Incidental Mutation 'R2113:Frem2'
ID |
232747 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frem2
|
Ensembl Gene |
ENSMUSG00000037016 |
Gene Name |
Fras1 related extracellular matrix protein 2 |
Synonyms |
8430406N05Rik, ne, 6030440P17Rik, b2b1562Clo, my |
MMRRC Submission |
040117-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2113 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
53421359-53564776 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 53560343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1388
(T1388I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091137]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091137
AA Change: T1388I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088670 Gene: ENSMUSG00000037016 AA Change: T1388I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
Pfam:Cadherin_3
|
249 |
388 |
4.3e-9 |
PFAM |
Pfam:Cadherin_3
|
376 |
532 |
3e-34 |
PFAM |
Pfam:Cadherin_3
|
516 |
665 |
7.5e-24 |
PFAM |
Pfam:Cadherin_3
|
632 |
798 |
1.6e-21 |
PFAM |
Pfam:Cadherin_3
|
763 |
910 |
1.2e-25 |
PFAM |
Pfam:Cadherin_3
|
879 |
1027 |
5.1e-18 |
PFAM |
Pfam:Cadherin_3
|
1015 |
1159 |
2.2e-20 |
PFAM |
CA
|
1202 |
1293 |
4.8e-1 |
SMART |
Pfam:Cadherin_3
|
1392 |
1503 |
9.8e-24 |
PFAM |
Pfam:Cadherin_3
|
1504 |
1612 |
6.2e-28 |
PFAM |
Pfam:Cadherin_3
|
1613 |
1743 |
5.3e-20 |
PFAM |
Calx_beta
|
1748 |
1847 |
1.5e-5 |
SMART |
Calx_beta
|
1860 |
1971 |
9.47e-12 |
SMART |
Calx_beta
|
1985 |
2092 |
1.65e-11 |
SMART |
Calx_beta
|
2105 |
2209 |
1.99e-5 |
SMART |
Calx_beta
|
2227 |
2331 |
6.9e-14 |
SMART |
transmembrane domain
|
3103 |
3125 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199323
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014] PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 127 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
C |
A |
12: 84,655,790 (GRCm39) |
G295* |
probably null |
Het |
Acad9 |
T |
C |
3: 36,128,525 (GRCm39) |
Y129H |
probably damaging |
Het |
Actn4 |
C |
T |
7: 28,597,549 (GRCm39) |
G608D |
probably benign |
Het |
Adcyap1r1 |
T |
A |
6: 55,458,100 (GRCm39) |
N300K |
probably damaging |
Het |
Adh5 |
A |
G |
3: 138,157,245 (GRCm39) |
I269V |
probably benign |
Het |
Afap1l2 |
G |
A |
19: 56,901,821 (GRCm39) |
A842V |
possibly damaging |
Het |
AI429214 |
A |
T |
8: 37,461,154 (GRCm39) |
K101* |
probably null |
Het |
Alg10b |
T |
A |
15: 90,109,860 (GRCm39) |
W58R |
probably damaging |
Het |
Alpk2 |
C |
T |
18: 65,438,754 (GRCm39) |
E1347K |
probably benign |
Het |
Amotl2 |
G |
T |
9: 102,601,922 (GRCm39) |
E389* |
probably null |
Het |
Ap5m1 |
G |
A |
14: 49,323,705 (GRCm39) |
R465Q |
probably damaging |
Het |
Apoa1 |
A |
C |
9: 46,140,512 (GRCm39) |
S48R |
probably damaging |
Het |
Asb1 |
T |
C |
1: 91,471,950 (GRCm39) |
L34P |
probably damaging |
Het |
Atg14 |
C |
T |
14: 47,788,781 (GRCm39) |
A191T |
probably damaging |
Het |
Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
Atrnl1 |
C |
T |
19: 57,744,048 (GRCm39) |
Q1217* |
probably null |
Het |
Bltp2 |
T |
C |
11: 78,159,598 (GRCm39) |
V549A |
probably benign |
Het |
Bsn |
A |
T |
9: 107,992,085 (GRCm39) |
H1222Q |
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,945,552 (GRCm39) |
V169E |
probably damaging |
Het |
Cbx4 |
C |
T |
11: 118,972,718 (GRCm39) |
G219E |
probably damaging |
Het |
Ccdc136 |
C |
T |
6: 29,413,031 (GRCm39) |
T406I |
possibly damaging |
Het |
Celsr3 |
A |
T |
9: 108,715,669 (GRCm39) |
Y2117F |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,411,299 (GRCm39) |
Q295L |
probably damaging |
Het |
Ces1b |
A |
G |
8: 93,794,783 (GRCm39) |
V272A |
probably benign |
Het |
Cgn |
A |
T |
3: 94,687,116 (GRCm39) |
V62D |
probably damaging |
Het |
Ckap4 |
T |
G |
10: 84,369,387 (GRCm39) |
Q115P |
possibly damaging |
Het |
Clec10a |
T |
C |
11: 70,060,650 (GRCm39) |
|
probably null |
Het |
Clmn |
A |
T |
12: 104,747,067 (GRCm39) |
S827T |
probably benign |
Het |
Cntn4 |
T |
C |
6: 106,466,658 (GRCm39) |
S187P |
probably damaging |
Het |
Cntnap5a |
A |
T |
1: 116,116,095 (GRCm39) |
I526F |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,202,140 (GRCm39) |
Q329R |
probably benign |
Het |
Col1a1 |
T |
A |
11: 94,839,188 (GRCm39) |
S979T |
unknown |
Het |
Crat |
T |
A |
2: 30,292,654 (GRCm39) |
Y606F |
probably benign |
Het |
Cyp2c29 |
G |
T |
19: 39,318,708 (GRCm39) |
C396F |
probably damaging |
Het |
Cyp2d34 |
G |
T |
15: 82,501,817 (GRCm39) |
P231Q |
probably damaging |
Het |
Ddi2 |
A |
T |
4: 141,430,591 (GRCm39) |
|
probably null |
Het |
Dicer1 |
A |
T |
12: 104,679,473 (GRCm39) |
H501Q |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,488,098 (GRCm39) |
I1001V |
probably damaging |
Het |
Dnase2a |
T |
A |
8: 85,637,500 (GRCm39) |
C301S |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,584,280 (GRCm39) |
D142V |
probably damaging |
Het |
Dpp8 |
G |
A |
9: 64,971,150 (GRCm39) |
C590Y |
probably benign |
Het |
Dst |
T |
A |
1: 34,314,317 (GRCm39) |
M6707K |
probably damaging |
Het |
Duox1 |
T |
C |
2: 122,167,735 (GRCm39) |
V1006A |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,596,420 (GRCm39) |
S1623P |
probably damaging |
Het |
Ehmt1 |
A |
T |
2: 24,694,015 (GRCm39) |
D1011E |
probably damaging |
Het |
Epc2 |
T |
A |
2: 49,422,235 (GRCm39) |
D376E |
probably benign |
Het |
Eps8 |
C |
A |
6: 137,514,633 (GRCm39) |
|
probably null |
Het |
F11 |
T |
C |
8: 45,699,869 (GRCm39) |
T406A |
probably benign |
Het |
Fat3 |
T |
G |
9: 15,911,082 (GRCm39) |
D1640A |
probably damaging |
Het |
Fbxo15 |
A |
T |
18: 84,977,230 (GRCm39) |
R47S |
probably benign |
Het |
Fbxo28 |
A |
T |
1: 182,157,490 (GRCm39) |
V109E |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,665,323 (GRCm39) |
S931R |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,697,185 (GRCm39) |
D9G |
probably damaging |
Het |
Fstl3 |
C |
A |
10: 79,617,012 (GRCm39) |
T185N |
probably damaging |
Het |
Glo1 |
A |
T |
17: 30,823,014 (GRCm39) |
Y49* |
probably null |
Het |
Gtsf2 |
T |
C |
15: 103,348,100 (GRCm39) |
M137V |
probably benign |
Het |
Gzmk |
C |
T |
13: 113,310,489 (GRCm39) |
G110S |
probably benign |
Het |
Hdac9 |
G |
T |
12: 34,439,331 (GRCm39) |
S428R |
probably damaging |
Het |
Hnrnpul1 |
G |
A |
7: 25,432,694 (GRCm39) |
T456I |
possibly damaging |
Het |
Ino80 |
T |
A |
2: 119,284,565 (GRCm39) |
H172L |
probably damaging |
Het |
Itgb8 |
A |
C |
12: 119,154,347 (GRCm39) |
L230R |
probably damaging |
Het |
Klf9 |
C |
T |
19: 23,142,052 (GRCm39) |
R171W |
probably damaging |
Het |
Kmt2b |
G |
T |
7: 30,282,812 (GRCm39) |
P1050Q |
probably damaging |
Het |
Krt15 |
A |
T |
11: 100,026,484 (GRCm39) |
F67L |
unknown |
Het |
Maml3 |
T |
A |
3: 51,598,077 (GRCm39) |
Y223F |
probably damaging |
Het |
Mcm9 |
C |
T |
10: 53,491,943 (GRCm39) |
|
probably null |
Het |
Mettl3 |
A |
G |
14: 52,532,441 (GRCm39) |
*104Q |
probably null |
Het |
Msrb3 |
T |
A |
10: 120,687,985 (GRCm39) |
D30V |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,457,512 (GRCm39) |
T1562A |
probably damaging |
Het |
Nat14 |
T |
C |
7: 4,927,038 (GRCm39) |
V70A |
possibly damaging |
Het |
Nbeal2 |
T |
C |
9: 110,454,474 (GRCm39) |
T2685A |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,469,327 (GRCm39) |
D128G |
probably damaging |
Het |
Nfam1 |
T |
A |
15: 82,899,202 (GRCm39) |
K155* |
probably null |
Het |
Noc4l |
A |
T |
5: 110,798,425 (GRCm39) |
M255K |
possibly damaging |
Het |
Nolc1 |
GCA |
GCAACA |
19: 46,069,800 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
CAG |
CAGGAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
Nprl2 |
T |
C |
9: 107,422,511 (GRCm39) |
S334P |
probably benign |
Het |
Nsrp1 |
A |
G |
11: 76,937,396 (GRCm39) |
S267P |
probably benign |
Het |
Ntn4 |
A |
T |
10: 93,480,701 (GRCm39) |
M142L |
probably damaging |
Het |
Nup188 |
T |
A |
2: 30,194,113 (GRCm39) |
C139* |
probably null |
Het |
Nup210l |
A |
T |
3: 90,098,281 (GRCm39) |
N1411I |
possibly damaging |
Het |
Or10g1 |
A |
G |
14: 52,647,753 (GRCm39) |
L192P |
probably damaging |
Het |
Or5ak24 |
T |
G |
2: 85,260,430 (GRCm39) |
T248P |
probably damaging |
Het |
Pard3 |
A |
T |
8: 128,115,018 (GRCm39) |
T579S |
probably damaging |
Het |
Pcnx3 |
G |
T |
19: 5,721,584 (GRCm39) |
D1071E |
possibly damaging |
Het |
Pi4k2a |
T |
A |
19: 42,103,510 (GRCm39) |
I340N |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,703,185 (GRCm39) |
D917V |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,106,066 (GRCm39) |
F821Y |
probably damaging |
Het |
Ptgfrn |
C |
T |
3: 100,984,625 (GRCm39) |
R189H |
probably benign |
Het |
Ptpn18 |
T |
A |
1: 34,510,742 (GRCm39) |
S235R |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,044,460 (GRCm39) |
|
probably null |
Het |
Rbp3 |
T |
G |
14: 33,678,014 (GRCm39) |
I654S |
probably benign |
Het |
Rimbp3 |
T |
C |
16: 17,027,539 (GRCm39) |
L321P |
probably benign |
Het |
Rims2 |
T |
A |
15: 39,374,722 (GRCm39) |
M1028K |
probably benign |
Het |
Ruvbl1 |
T |
A |
6: 88,460,003 (GRCm39) |
V221D |
probably damaging |
Het |
Ruvbl2 |
A |
T |
7: 45,073,527 (GRCm39) |
|
probably null |
Het |
Scn7a |
C |
T |
2: 66,506,312 (GRCm39) |
D1526N |
probably damaging |
Het |
Scnn1a |
T |
C |
6: 125,314,774 (GRCm39) |
F218S |
possibly damaging |
Het |
Sh3tc2 |
T |
A |
18: 62,146,176 (GRCm39) |
M1185K |
probably damaging |
Het |
Slain1 |
C |
A |
14: 103,888,282 (GRCm39) |
D67E |
possibly damaging |
Het |
Snx33 |
T |
C |
9: 56,833,724 (GRCm39) |
D115G |
probably benign |
Het |
Sowaha |
G |
A |
11: 53,369,789 (GRCm39) |
R316C |
probably damaging |
Het |
Spata17 |
A |
T |
1: 186,830,108 (GRCm39) |
F309I |
possibly damaging |
Het |
Spmip7 |
G |
A |
11: 11,440,293 (GRCm39) |
|
probably null |
Het |
Ssrp1 |
G |
T |
2: 84,873,350 (GRCm39) |
|
probably null |
Het |
St6gal1 |
C |
G |
16: 23,147,167 (GRCm39) |
T225S |
probably damaging |
Het |
Sulf1 |
C |
G |
1: 12,918,398 (GRCm39) |
F38L |
probably damaging |
Het |
Tbc1d7 |
G |
A |
13: 43,306,562 (GRCm39) |
T138M |
probably damaging |
Het |
Tdpoz4 |
T |
A |
3: 93,704,351 (GRCm39) |
M216K |
probably damaging |
Het |
Tmem200a |
A |
G |
10: 25,869,220 (GRCm39) |
S350P |
probably damaging |
Het |
Tnpo3 |
A |
T |
6: 29,551,871 (GRCm39) |
D903E |
probably benign |
Het |
Trpc4ap |
A |
T |
2: 155,499,856 (GRCm39) |
I222N |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,781,021 (GRCm39) |
Y3261N |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,542,954 (GRCm39) |
V33344A |
possibly damaging |
Het |
Uchl4 |
A |
T |
9: 64,142,818 (GRCm39) |
T100S |
probably damaging |
Het |
Uxs1 |
A |
G |
1: 43,810,933 (GRCm39) |
Y97H |
probably damaging |
Het |
Vmn1r192 |
A |
T |
13: 22,371,800 (GRCm39) |
V140D |
possibly damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
Vmn2r88 |
T |
C |
14: 51,655,651 (GRCm39) |
L621P |
probably damaging |
Het |
Vps45 |
A |
T |
3: 95,954,365 (GRCm39) |
M174K |
probably benign |
Het |
Wdr72 |
A |
T |
9: 74,052,454 (GRCm39) |
M162L |
probably benign |
Het |
Wdr81 |
T |
A |
11: 75,344,461 (GRCm39) |
M269L |
probably benign |
Het |
Zfp53 |
A |
G |
17: 21,728,713 (GRCm39) |
T249A |
probably benign |
Het |
Zfp758 |
T |
C |
17: 22,580,626 (GRCm39) |
S22P |
probably benign |
Het |
Zfp780b |
T |
C |
7: 27,663,298 (GRCm39) |
D419G |
possibly damaging |
Het |
Zfp934 |
A |
T |
13: 62,666,507 (GRCm39) |
Y45N |
probably damaging |
Het |
|
Other mutations in Frem2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00895:Frem2
|
APN |
3 |
53,493,016 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00911:Frem2
|
APN |
3 |
53,479,883 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01322:Frem2
|
APN |
3 |
53,448,459 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01330:Frem2
|
APN |
3 |
53,562,662 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01406:Frem2
|
APN |
3 |
53,433,317 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01556:Frem2
|
APN |
3 |
53,442,702 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01580:Frem2
|
APN |
3 |
53,562,596 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01606:Frem2
|
APN |
3 |
53,561,012 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01611:Frem2
|
APN |
3 |
53,563,130 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01648:Frem2
|
APN |
3 |
53,443,153 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01663:Frem2
|
APN |
3 |
53,424,434 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01665:Frem2
|
APN |
3 |
53,457,083 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01670:Frem2
|
APN |
3 |
53,564,358 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01960:Frem2
|
APN |
3 |
53,429,725 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02175:Frem2
|
APN |
3 |
53,563,020 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02201:Frem2
|
APN |
3 |
53,427,061 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02202:Frem2
|
APN |
3 |
53,562,220 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02427:Frem2
|
APN |
3 |
53,443,184 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02457:Frem2
|
APN |
3 |
53,428,470 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02638:Frem2
|
APN |
3 |
53,458,767 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02801:Frem2
|
APN |
3 |
53,559,596 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03023:Frem2
|
APN |
3 |
53,563,049 (GRCm39) |
missense |
probably benign |
0.40 |
IGL03169:Frem2
|
APN |
3 |
53,429,713 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03238:Frem2
|
APN |
3 |
53,563,682 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03251:Frem2
|
APN |
3 |
53,479,729 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03273:Frem2
|
APN |
3 |
53,444,930 (GRCm39) |
nonsense |
probably null |
|
IGL03343:Frem2
|
APN |
3 |
53,559,674 (GRCm39) |
missense |
probably damaging |
1.00 |
Biosimilar
|
UTSW |
3 |
53,561,744 (GRCm39) |
missense |
probably benign |
0.01 |
Fruit_stripe
|
UTSW |
3 |
53,444,910 (GRCm39) |
missense |
probably benign |
0.21 |
PIT4366001:Frem2
|
UTSW |
3 |
53,560,622 (GRCm39) |
missense |
probably damaging |
0.98 |
R0019:Frem2
|
UTSW |
3 |
53,431,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R0092:Frem2
|
UTSW |
3 |
53,497,217 (GRCm39) |
missense |
probably benign |
0.03 |
R0108:Frem2
|
UTSW |
3 |
53,555,382 (GRCm39) |
missense |
probably benign |
0.03 |
R0115:Frem2
|
UTSW |
3 |
53,563,629 (GRCm39) |
missense |
probably damaging |
0.99 |
R0118:Frem2
|
UTSW |
3 |
53,442,664 (GRCm39) |
nonsense |
probably null |
|
R0374:Frem2
|
UTSW |
3 |
53,561,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R0437:Frem2
|
UTSW |
3 |
53,560,436 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0531:Frem2
|
UTSW |
3 |
53,427,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Frem2
|
UTSW |
3 |
53,424,281 (GRCm39) |
missense |
probably damaging |
0.97 |
R0564:Frem2
|
UTSW |
3 |
53,563,530 (GRCm39) |
missense |
probably damaging |
0.97 |
R0586:Frem2
|
UTSW |
3 |
53,555,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R0726:Frem2
|
UTSW |
3 |
53,427,047 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0925:Frem2
|
UTSW |
3 |
53,561,394 (GRCm39) |
missense |
probably benign |
|
R1233:Frem2
|
UTSW |
3 |
53,455,199 (GRCm39) |
missense |
probably damaging |
0.98 |
R1302:Frem2
|
UTSW |
3 |
53,562,959 (GRCm39) |
missense |
probably benign |
0.00 |
R1333:Frem2
|
UTSW |
3 |
53,457,152 (GRCm39) |
missense |
probably benign |
0.26 |
R1446:Frem2
|
UTSW |
3 |
53,562,017 (GRCm39) |
missense |
probably benign |
0.31 |
R1523:Frem2
|
UTSW |
3 |
53,562,828 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1539:Frem2
|
UTSW |
3 |
53,561,631 (GRCm39) |
missense |
probably benign |
0.19 |
R1543:Frem2
|
UTSW |
3 |
53,479,876 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1597:Frem2
|
UTSW |
3 |
53,561,940 (GRCm39) |
missense |
probably benign |
0.19 |
R1600:Frem2
|
UTSW |
3 |
53,455,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R1678:Frem2
|
UTSW |
3 |
53,427,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Frem2
|
UTSW |
3 |
53,561,373 (GRCm39) |
missense |
probably benign |
|
R1696:Frem2
|
UTSW |
3 |
53,563,463 (GRCm39) |
nonsense |
probably null |
|
R1758:Frem2
|
UTSW |
3 |
53,560,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R1857:Frem2
|
UTSW |
3 |
53,562,294 (GRCm39) |
missense |
probably benign |
0.10 |
R1869:Frem2
|
UTSW |
3 |
53,442,617 (GRCm39) |
missense |
probably benign |
0.04 |
R1921:Frem2
|
UTSW |
3 |
53,560,916 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1973:Frem2
|
UTSW |
3 |
53,559,653 (GRCm39) |
missense |
probably benign |
0.01 |
R2045:Frem2
|
UTSW |
3 |
53,443,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R2152:Frem2
|
UTSW |
3 |
53,424,450 (GRCm39) |
nonsense |
probably null |
|
R2164:Frem2
|
UTSW |
3 |
53,444,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R2181:Frem2
|
UTSW |
3 |
53,482,008 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2201:Frem2
|
UTSW |
3 |
53,423,994 (GRCm39) |
missense |
probably benign |
|
R2221:Frem2
|
UTSW |
3 |
53,424,278 (GRCm39) |
missense |
probably benign |
0.00 |
R2255:Frem2
|
UTSW |
3 |
53,559,935 (GRCm39) |
missense |
probably damaging |
0.96 |
R2280:Frem2
|
UTSW |
3 |
53,479,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R3196:Frem2
|
UTSW |
3 |
53,444,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R3716:Frem2
|
UTSW |
3 |
53,479,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R3807:Frem2
|
UTSW |
3 |
53,560,870 (GRCm39) |
missense |
probably benign |
0.22 |
R3820:Frem2
|
UTSW |
3 |
53,424,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R3821:Frem2
|
UTSW |
3 |
53,559,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R3977:Frem2
|
UTSW |
3 |
53,559,491 (GRCm39) |
missense |
probably benign |
0.00 |
R3979:Frem2
|
UTSW |
3 |
53,559,491 (GRCm39) |
missense |
probably benign |
0.00 |
R4014:Frem2
|
UTSW |
3 |
53,559,774 (GRCm39) |
missense |
probably benign |
0.01 |
R4127:Frem2
|
UTSW |
3 |
53,433,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R4195:Frem2
|
UTSW |
3 |
53,446,689 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4196:Frem2
|
UTSW |
3 |
53,446,689 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4374:Frem2
|
UTSW |
3 |
53,452,923 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4427:Frem2
|
UTSW |
3 |
53,446,583 (GRCm39) |
critical splice donor site |
probably null |
|
R4428:Frem2
|
UTSW |
3 |
53,561,759 (GRCm39) |
missense |
probably benign |
0.40 |
R4559:Frem2
|
UTSW |
3 |
53,561,742 (GRCm39) |
missense |
probably benign |
0.01 |
R4600:Frem2
|
UTSW |
3 |
53,455,228 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4602:Frem2
|
UTSW |
3 |
53,455,228 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4610:Frem2
|
UTSW |
3 |
53,455,228 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4611:Frem2
|
UTSW |
3 |
53,455,228 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4661:Frem2
|
UTSW |
3 |
53,562,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R4678:Frem2
|
UTSW |
3 |
53,451,792 (GRCm39) |
missense |
probably benign |
0.00 |
R4689:Frem2
|
UTSW |
3 |
53,455,056 (GRCm39) |
missense |
probably benign |
0.43 |
R4740:Frem2
|
UTSW |
3 |
53,443,240 (GRCm39) |
missense |
probably benign |
0.04 |
R4748:Frem2
|
UTSW |
3 |
53,448,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Frem2
|
UTSW |
3 |
53,424,162 (GRCm39) |
missense |
probably benign |
|
R4809:Frem2
|
UTSW |
3 |
53,561,316 (GRCm39) |
missense |
probably benign |
0.01 |
R4930:Frem2
|
UTSW |
3 |
53,563,736 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4971:Frem2
|
UTSW |
3 |
53,446,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Frem2
|
UTSW |
3 |
53,442,617 (GRCm39) |
missense |
probably benign |
0.37 |
R5202:Frem2
|
UTSW |
3 |
53,458,767 (GRCm39) |
missense |
probably benign |
0.41 |
R5221:Frem2
|
UTSW |
3 |
53,493,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R5231:Frem2
|
UTSW |
3 |
53,429,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R5268:Frem2
|
UTSW |
3 |
53,560,575 (GRCm39) |
missense |
probably damaging |
0.96 |
R5480:Frem2
|
UTSW |
3 |
53,563,928 (GRCm39) |
nonsense |
probably null |
|
R5637:Frem2
|
UTSW |
3 |
53,560,358 (GRCm39) |
missense |
probably damaging |
0.97 |
R5664:Frem2
|
UTSW |
3 |
53,559,911 (GRCm39) |
missense |
probably benign |
0.33 |
R5698:Frem2
|
UTSW |
3 |
53,559,926 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5744:Frem2
|
UTSW |
3 |
53,563,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R5754:Frem2
|
UTSW |
3 |
53,444,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R5808:Frem2
|
UTSW |
3 |
53,559,984 (GRCm39) |
missense |
probably damaging |
0.96 |
R5840:Frem2
|
UTSW |
3 |
53,555,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R5874:Frem2
|
UTSW |
3 |
53,444,910 (GRCm39) |
missense |
probably benign |
0.21 |
R6050:Frem2
|
UTSW |
3 |
53,560,433 (GRCm39) |
missense |
probably damaging |
0.99 |
R6103:Frem2
|
UTSW |
3 |
53,457,209 (GRCm39) |
missense |
probably benign |
0.00 |
R6149:Frem2
|
UTSW |
3 |
53,458,762 (GRCm39) |
missense |
probably damaging |
0.98 |
R6182:Frem2
|
UTSW |
3 |
53,555,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R6191:Frem2
|
UTSW |
3 |
53,562,701 (GRCm39) |
missense |
probably benign |
0.10 |
R6245:Frem2
|
UTSW |
3 |
53,563,245 (GRCm39) |
missense |
probably benign |
0.00 |
R6252:Frem2
|
UTSW |
3 |
53,479,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R6393:Frem2
|
UTSW |
3 |
53,493,061 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6416:Frem2
|
UTSW |
3 |
53,479,799 (GRCm39) |
missense |
probably benign |
0.01 |
R6595:Frem2
|
UTSW |
3 |
53,457,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R6665:Frem2
|
UTSW |
3 |
53,562,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R6708:Frem2
|
UTSW |
3 |
53,492,922 (GRCm39) |
missense |
probably benign |
0.00 |
R6751:Frem2
|
UTSW |
3 |
53,561,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R6787:Frem2
|
UTSW |
3 |
53,561,744 (GRCm39) |
missense |
probably benign |
0.01 |
R6913:Frem2
|
UTSW |
3 |
53,424,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R6916:Frem2
|
UTSW |
3 |
53,455,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R7017:Frem2
|
UTSW |
3 |
53,427,023 (GRCm39) |
missense |
probably benign |
0.02 |
R7083:Frem2
|
UTSW |
3 |
53,444,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R7108:Frem2
|
UTSW |
3 |
53,560,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R7133:Frem2
|
UTSW |
3 |
53,479,760 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7326:Frem2
|
UTSW |
3 |
53,562,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R7341:Frem2
|
UTSW |
3 |
53,561,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Frem2
|
UTSW |
3 |
53,479,701 (GRCm39) |
splice site |
probably null |
|
R7487:Frem2
|
UTSW |
3 |
53,561,970 (GRCm39) |
missense |
probably benign |
0.40 |
R7495:Frem2
|
UTSW |
3 |
53,424,258 (GRCm39) |
missense |
probably benign |
0.13 |
R7542:Frem2
|
UTSW |
3 |
53,560,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7636:Frem2
|
UTSW |
3 |
53,560,668 (GRCm39) |
missense |
probably benign |
0.00 |
R7703:Frem2
|
UTSW |
3 |
53,429,589 (GRCm39) |
missense |
probably benign |
0.01 |
R7750:Frem2
|
UTSW |
3 |
53,431,103 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7849:Frem2
|
UTSW |
3 |
53,479,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R7922:Frem2
|
UTSW |
3 |
53,560,725 (GRCm39) |
missense |
probably damaging |
0.98 |
R8008:Frem2
|
UTSW |
3 |
53,560,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R8051:Frem2
|
UTSW |
3 |
53,442,776 (GRCm39) |
missense |
probably benign |
0.04 |
R8052:Frem2
|
UTSW |
3 |
53,457,064 (GRCm39) |
missense |
probably benign |
0.02 |
R8176:Frem2
|
UTSW |
3 |
53,562,761 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8220:Frem2
|
UTSW |
3 |
53,563,928 (GRCm39) |
nonsense |
probably null |
|
R8397:Frem2
|
UTSW |
3 |
53,560,562 (GRCm39) |
missense |
probably benign |
0.00 |
R8410:Frem2
|
UTSW |
3 |
53,446,598 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8697:Frem2
|
UTSW |
3 |
53,433,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R9134:Frem2
|
UTSW |
3 |
53,562,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R9183:Frem2
|
UTSW |
3 |
53,427,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R9260:Frem2
|
UTSW |
3 |
53,560,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R9267:Frem2
|
UTSW |
3 |
53,564,504 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
R9299:Frem2
|
UTSW |
3 |
53,563,980 (GRCm39) |
missense |
probably benign |
0.37 |
R9378:Frem2
|
UTSW |
3 |
53,559,410 (GRCm39) |
missense |
probably damaging |
0.99 |
R9444:Frem2
|
UTSW |
3 |
53,560,265 (GRCm39) |
missense |
probably benign |
0.10 |
R9459:Frem2
|
UTSW |
3 |
53,560,907 (GRCm39) |
missense |
probably benign |
|
R9487:Frem2
|
UTSW |
3 |
53,560,905 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9728:Frem2
|
UTSW |
3 |
53,564,052 (GRCm39) |
missense |
probably benign |
0.00 |
R9759:Frem2
|
UTSW |
3 |
53,562,918 (GRCm39) |
missense |
possibly damaging |
0.76 |
Z1177:Frem2
|
UTSW |
3 |
53,563,028 (GRCm39) |
missense |
probably benign |
0.31 |
Z1177:Frem2
|
UTSW |
3 |
53,442,587 (GRCm39) |
missense |
probably null |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGAAAACTAAGTTCTCATCAGGGC -3'
(R):5'- AGTCCTAATGGCAACCGATC -3'
Sequencing Primer
(F):5'- ATCAGGGCTGTTCAAGTCAC -3'
(R):5'- TGGCAACCGATCTAGACTCTGATG -3'
|
Posted On |
2014-09-18 |