Incidental Mutation 'R1572:Cr2'
| ID |
170814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr2
|
| Ensembl Gene |
ENSMUSG00000026616 |
| Gene Name |
complement receptor 2 |
| Synonyms |
C3DR, CD21, Cr-2, Cr1, Cr-1, CD35 |
| MMRRC Submission |
039611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1572 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
194819119-194859024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 194845622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 111
(H111L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043104]
[ENSMUST00000082321]
[ENSMUST00000193356]
[ENSMUST00000193801]
[ENSMUST00000195120]
[ENSMUST00000210219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043104
|
| SMART Domains |
Protein: ENSMUSP00000044261
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
2 |
58 |
5.04e-7 |
SMART |
|
CCP
|
63 |
120 |
3.58e-12 |
SMART |
|
CCP
|
125 |
191 |
1.2e-13 |
SMART |
|
CCP
|
197 |
252 |
2.73e-17 |
SMART |
|
CCP
|
256 |
311 |
1.01e-15 |
SMART |
|
Blast:CCP
|
316 |
347 |
2e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082321
AA Change: H111L
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: H111L
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
1.01e-11 |
SMART |
|
CCP
|
91 |
147 |
9.1e-14 |
SMART |
|
CCP
|
155 |
211 |
1.9e-16 |
SMART |
|
CCP
|
216 |
272 |
1.6e-9 |
SMART |
|
CCP
|
277 |
343 |
1.01e-11 |
SMART |
|
CCP
|
352 |
407 |
1.2e-13 |
SMART |
|
CCP
|
411 |
467 |
2.34e-16 |
SMART |
|
CCP
|
472 |
523 |
1.24e0 |
SMART |
|
CCP
|
528 |
594 |
4.48e-13 |
SMART |
|
CCP
|
603 |
658 |
1.95e-13 |
SMART |
|
CCP
|
718 |
778 |
1.75e-15 |
SMART |
|
CCP
|
787 |
842 |
2.06e-12 |
SMART |
|
CCP
|
850 |
906 |
7.92e-14 |
SMART |
|
CCP
|
911 |
967 |
1.29e-13 |
SMART |
|
transmembrane domain
|
975 |
997 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193356
|
| SMART Domains |
Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
1 |
46 |
1.2e-1 |
SMART |
|
CCP
|
55 |
110 |
5.9e-16 |
SMART |
|
CCP
|
114 |
170 |
1.1e-18 |
SMART |
|
CCP
|
175 |
226 |
6.1e-3 |
SMART |
|
CCP
|
231 |
297 |
2.2e-15 |
SMART |
|
CCP
|
306 |
361 |
9.4e-16 |
SMART |
|
CCP
|
421 |
481 |
8.3e-18 |
SMART |
|
CCP
|
490 |
545 |
1e-14 |
SMART |
|
CCP
|
553 |
609 |
4e-16 |
SMART |
|
CCP
|
614 |
670 |
6.2e-16 |
SMART |
|
transmembrane domain
|
678 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193801
|
| SMART Domains |
Protein: ENSMUSP00000141276
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194149
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195120
AA Change: H111L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: H111L
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
4.9e-14 |
SMART |
|
CCP
|
91 |
147 |
4.5e-16 |
SMART |
|
CCP
|
155 |
211 |
9.1e-19 |
SMART |
|
CCP
|
216 |
272 |
8e-12 |
SMART |
|
CCP
|
277 |
343 |
5e-14 |
SMART |
|
CCP
|
352 |
407 |
5.9e-16 |
SMART |
|
CCP
|
411 |
467 |
1.1e-18 |
SMART |
|
CCP
|
472 |
523 |
6.1e-3 |
SMART |
|
CCP
|
528 |
594 |
2.2e-15 |
SMART |
|
CCP
|
603 |
658 |
9.4e-16 |
SMART |
|
CCP
|
718 |
778 |
8.3e-18 |
SMART |
|
CCP
|
787 |
842 |
1e-14 |
SMART |
|
CCP
|
850 |
906 |
4e-16 |
SMART |
|
CCP
|
911 |
967 |
6.2e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195347
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210219
AA Change: H487L
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.3130 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 92.9%
- 20x: 80.7%
|
| Validation Efficiency |
97% (130/134) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
G |
A |
9: 50,651,973 (GRCm39) |
T85M |
probably damaging |
Het |
| Actn1 |
A |
G |
12: 80,219,731 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,870,570 (GRCm39) |
S603T |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,910,851 (GRCm39) |
Y39C |
probably benign |
Het |
| Ankmy2 |
T |
C |
12: 36,236,941 (GRCm39) |
|
probably null |
Het |
| Anxa13 |
A |
T |
15: 58,220,655 (GRCm39) |
|
noncoding transcript |
Het |
| Aoc1 |
T |
C |
6: 48,882,720 (GRCm39) |
S221P |
possibly damaging |
Het |
| Arhgef10 |
C |
A |
8: 15,041,211 (GRCm39) |
A770D |
possibly damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,982,065 (GRCm39) |
D707G |
probably benign |
Het |
| Arhgef3 |
G |
A |
14: 27,123,692 (GRCm39) |
R444H |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,548,271 (GRCm39) |
I11V |
probably benign |
Het |
| Atp2b1 |
A |
G |
10: 98,830,537 (GRCm39) |
M333V |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,932,841 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ccdc87 |
T |
A |
19: 4,890,341 (GRCm39) |
S278T |
probably benign |
Het |
| Ccn3 |
T |
A |
15: 54,612,648 (GRCm39) |
M219K |
possibly damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,846,560 (GRCm39) |
Y777* |
probably null |
Het |
| Chaf1b |
G |
A |
16: 93,698,118 (GRCm39) |
G463D |
possibly damaging |
Het |
| Chrna4 |
T |
C |
2: 180,671,100 (GRCm39) |
T219A |
possibly damaging |
Het |
| Clcnkb |
T |
G |
4: 141,134,406 (GRCm39) |
T584P |
possibly damaging |
Het |
| Clptm1l |
T |
C |
13: 73,755,866 (GRCm39) |
S161P |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,777 (GRCm39) |
E1437G |
possibly damaging |
Het |
| Col13a1 |
A |
T |
10: 61,702,205 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
C |
1: 45,385,128 (GRCm39) |
S82P |
possibly damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,116,482 (GRCm39) |
M383K |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,375,974 (GRCm39) |
S1522G |
possibly damaging |
Het |
| Cul3 |
T |
C |
1: 80,260,506 (GRCm39) |
D281G |
possibly damaging |
Het |
| Cyp2c70 |
T |
G |
19: 40,172,426 (GRCm39) |
K72T |
probably benign |
Het |
| Cyp39a1 |
A |
T |
17: 43,991,020 (GRCm39) |
I110F |
probably damaging |
Het |
| Cyp46a1 |
T |
A |
12: 108,318,198 (GRCm39) |
M203K |
probably null |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,024 (GRCm39) |
V436D |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,422,766 (GRCm39) |
D324G |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,567,041 (GRCm39) |
N1274S |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,632,631 (GRCm39) |
V1166I |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,714 (GRCm39) |
V1554A |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,726,641 (GRCm39) |
|
probably null |
Het |
| Egfem1 |
A |
T |
3: 29,702,420 (GRCm39) |
N223I |
probably benign |
Het |
| Egr2 |
T |
C |
10: 67,375,805 (GRCm39) |
S147P |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,034,933 (GRCm39) |
T408A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,883,908 (GRCm38) |
D378G |
probably damaging |
Het |
| Foxj2 |
T |
A |
6: 122,810,220 (GRCm39) |
M193K |
probably benign |
Het |
| Gm6327 |
A |
G |
16: 12,578,020 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7694 |
T |
C |
1: 170,130,335 (GRCm39) |
H21R |
probably benign |
Het |
| Gpr107 |
A |
G |
2: 31,057,037 (GRCm39) |
D43G |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,406,678 (GRCm39) |
Y679* |
probably null |
Het |
| Grin2c |
G |
A |
11: 115,146,900 (GRCm39) |
P432S |
possibly damaging |
Het |
| H2-M10.1 |
A |
G |
17: 36,636,625 (GRCm39) |
F60L |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,439,941 (GRCm39) |
D1147G |
possibly damaging |
Het |
| Idua |
G |
T |
5: 108,828,455 (GRCm39) |
A223S |
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,314,419 (GRCm39) |
Q7R |
probably benign |
Het |
| Itgad |
T |
A |
7: 127,802,406 (GRCm39) |
V986E |
probably damaging |
Het |
| Itsn2 |
G |
A |
12: 4,700,044 (GRCm39) |
R670H |
probably benign |
Het |
| Kdm4a |
T |
C |
4: 117,996,146 (GRCm39) |
E961G |
possibly damaging |
Het |
| Klra5 |
T |
A |
6: 129,883,585 (GRCm39) |
I91L |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,910,176 (GRCm39) |
T525A |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,221,932 (GRCm39) |
F1536L |
probably benign |
Het |
| Lmod1 |
T |
A |
1: 135,291,671 (GRCm39) |
D175E |
probably benign |
Het |
| Lonrf1 |
A |
C |
8: 36,701,126 (GRCm39) |
D361E |
probably benign |
Het |
| Lrrc19 |
T |
C |
4: 94,526,666 (GRCm39) |
Y297C |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,873,431 (GRCm39) |
E1787G |
possibly damaging |
Het |
| Mpp2 |
G |
A |
11: 101,951,374 (GRCm39) |
A452V |
probably benign |
Het |
| Msh2 |
T |
C |
17: 88,026,080 (GRCm39) |
V686A |
possibly damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,317,193 (GRCm39) |
Q15* |
probably null |
Het |
| Mtnr1b |
A |
T |
9: 15,774,438 (GRCm39) |
I207N |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,855,480 (GRCm39) |
T1207A |
probably benign |
Het |
| Nin |
A |
T |
12: 70,085,524 (GRCm39) |
V1569D |
probably damaging |
Het |
| Nrcam |
T |
A |
12: 44,584,147 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,394,782 (GRCm39) |
H897Q |
probably damaging |
Het |
| Or10g9 |
A |
G |
9: 39,912,490 (GRCm39) |
F11S |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,371 (GRCm39) |
N301K |
probably benign |
Het |
| Or2w2 |
T |
A |
13: 21,758,480 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,208 (GRCm39) |
K234N |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,588,320 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
G |
A |
19: 5,735,375 (GRCm39) |
R484* |
probably null |
Het |
| Pdxk |
A |
G |
10: 78,283,814 (GRCm39) |
Y127H |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,129,754 (GRCm39) |
V442E |
probably benign |
Het |
| Phlpp1 |
G |
A |
1: 106,320,519 (GRCm39) |
D1505N |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,417,664 (GRCm39) |
T2496A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,406,869 (GRCm39) |
T2369A |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,485,120 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,905,263 (GRCm39) |
M617K |
possibly damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prkch |
T |
A |
12: 73,696,131 (GRCm39) |
|
probably null |
Het |
| Prr12 |
G |
A |
7: 44,678,224 (GRCm39) |
H1974Y |
unknown |
Het |
| Prr16 |
A |
G |
18: 51,436,042 (GRCm39) |
I174V |
probably benign |
Het |
| Prss45 |
A |
T |
9: 110,667,497 (GRCm39) |
T39S |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,445,515 (GRCm39) |
D161E |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,113 (GRCm39) |
D345G |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,288,119 (GRCm39) |
|
probably benign |
Het |
| Rasgrp3 |
A |
G |
17: 75,807,729 (GRCm39) |
H262R |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,327,437 (GRCm39) |
I1809N |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,761,616 (GRCm39) |
L3177P |
probably damaging |
Het |
| Scyl2 |
C |
A |
10: 89,486,818 (GRCm39) |
R230L |
probably damaging |
Het |
| Sfxn2 |
T |
C |
19: 46,570,915 (GRCm39) |
|
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,674,639 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
C |
13: 59,876,005 (GRCm39) |
H510R |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,872,780 (GRCm39) |
N1109K |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,927,024 (GRCm39) |
V863M |
possibly damaging |
Het |
| Sult3a2 |
A |
G |
10: 33,657,973 (GRCm39) |
S47P |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,682,028 (GRCm39) |
N2518S |
possibly damaging |
Het |
| Tex21 |
G |
T |
12: 76,253,665 (GRCm39) |
P416Q |
probably benign |
Het |
| Tex38 |
T |
C |
4: 115,637,503 (GRCm39) |
N100S |
probably benign |
Het |
| Thsd4 |
A |
C |
9: 60,301,836 (GRCm39) |
|
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,331,572 (GRCm39) |
V723A |
probably damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,887,717 (GRCm39) |
V30A |
probably benign |
Het |
| Uba3 |
A |
G |
6: 97,162,298 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,765,800 (GRCm39) |
|
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,143,013 (GRCm39) |
I165L |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,822,125 (GRCm39) |
T268S |
possibly damaging |
Het |
| Wfdc3 |
T |
C |
2: 164,586,114 (GRCm39) |
|
probably benign |
Het |
| Zfp282 |
T |
A |
6: 47,869,801 (GRCm39) |
L282Q |
probably damaging |
Het |
| Zfp422 |
A |
T |
6: 116,603,745 (GRCm39) |
C85S |
probably damaging |
Het |
| Zfp790 |
A |
T |
7: 29,527,564 (GRCm39) |
Q83L |
probably benign |
Het |
|
| Other mutations in Cr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Cr2
|
APN |
1 |
194,836,559 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01326:Cr2
|
APN |
1 |
194,823,529 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01358:Cr2
|
APN |
1 |
194,842,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01410:Cr2
|
APN |
1 |
194,845,542 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01468:Cr2
|
APN |
1 |
194,850,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Cr2
|
APN |
1 |
194,837,528 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01810:Cr2
|
APN |
1 |
194,841,903 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01843:Cr2
|
APN |
1 |
194,833,222 (GRCm39) |
splice site |
probably benign |
|
|
IGL02332:Cr2
|
APN |
1 |
194,842,630 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02934:Cr2
|
APN |
1 |
194,836,633 (GRCm39) |
splice site |
probably benign |
|
|
IGL02938:Cr2
|
APN |
1 |
194,848,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Cr2
|
APN |
1 |
194,848,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03327:Cr2
|
APN |
1 |
194,852,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Cr2
|
APN |
1 |
194,852,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pillar
|
UTSW |
1 |
194,838,196 (GRCm39) |
nonsense |
probably null |
|
|
PIT4354001:Cr2
|
UTSW |
1 |
194,848,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Cr2
|
UTSW |
1 |
194,839,760 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0128:Cr2
|
UTSW |
1 |
194,848,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0130:Cr2
|
UTSW |
1 |
194,848,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0380:Cr2
|
UTSW |
1 |
194,839,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Cr2
|
UTSW |
1 |
194,842,667 (GRCm39) |
splice site |
probably benign |
|
|
R0605:Cr2
|
UTSW |
1 |
194,845,904 (GRCm39) |
splice site |
probably benign |
|
|
R0626:Cr2
|
UTSW |
1 |
194,853,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1135:Cr2
|
UTSW |
1 |
194,839,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Cr2
|
UTSW |
1 |
194,851,561 (GRCm39) |
splice site |
probably null |
|
|
R1422:Cr2
|
UTSW |
1 |
194,853,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1467:Cr2
|
UTSW |
1 |
194,839,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Cr2
|
UTSW |
1 |
194,839,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Cr2
|
UTSW |
1 |
194,837,580 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1714:Cr2
|
UTSW |
1 |
194,833,994 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1748:Cr2
|
UTSW |
1 |
194,838,213 (GRCm39) |
nonsense |
probably null |
|
|
R1761:Cr2
|
UTSW |
1 |
194,837,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1824:Cr2
|
UTSW |
1 |
194,839,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Cr2
|
UTSW |
1 |
194,837,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1990:Cr2
|
UTSW |
1 |
194,836,458 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1991:Cr2
|
UTSW |
1 |
194,836,458 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1992:Cr2
|
UTSW |
1 |
194,836,458 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2191:Cr2
|
UTSW |
1 |
194,845,689 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2276:Cr2
|
UTSW |
1 |
194,839,676 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2277:Cr2
|
UTSW |
1 |
194,839,676 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3548:Cr2
|
UTSW |
1 |
194,838,196 (GRCm39) |
nonsense |
probably null |
|
|
R3743:Cr2
|
UTSW |
1 |
194,832,274 (GRCm39) |
splice site |
probably benign |
|
|
R3941:Cr2
|
UTSW |
1 |
194,848,122 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3963:Cr2
|
UTSW |
1 |
194,842,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Cr2
|
UTSW |
1 |
194,838,636 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4484:Cr2
|
UTSW |
1 |
194,836,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Cr2
|
UTSW |
1 |
194,853,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4791:Cr2
|
UTSW |
1 |
194,838,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Cr2
|
UTSW |
1 |
194,845,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Cr2
|
UTSW |
1 |
194,845,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4874:Cr2
|
UTSW |
1 |
194,858,878 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4885:Cr2
|
UTSW |
1 |
194,841,039 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4889:Cr2
|
UTSW |
1 |
194,858,893 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5154:Cr2
|
UTSW |
1 |
194,841,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Cr2
|
UTSW |
1 |
194,823,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Cr2
|
UTSW |
1 |
194,839,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Cr2
|
UTSW |
1 |
194,836,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Cr2
|
UTSW |
1 |
194,842,065 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5929:Cr2
|
UTSW |
1 |
194,853,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6237:Cr2
|
UTSW |
1 |
194,839,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6299:Cr2
|
UTSW |
1 |
194,850,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Cr2
|
UTSW |
1 |
194,850,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Cr2
|
UTSW |
1 |
194,852,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6618:Cr2
|
UTSW |
1 |
194,839,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6684:Cr2
|
UTSW |
1 |
194,853,329 (GRCm39) |
nonsense |
probably null |
|
|
R6720:Cr2
|
UTSW |
1 |
194,837,508 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6866:Cr2
|
UTSW |
1 |
194,833,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Cr2
|
UTSW |
1 |
194,853,454 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7057:Cr2
|
UTSW |
1 |
194,833,918 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7117:Cr2
|
UTSW |
1 |
194,842,909 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7200:Cr2
|
UTSW |
1 |
194,845,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7209:Cr2
|
UTSW |
1 |
194,851,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Cr2
|
UTSW |
1 |
194,837,594 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7414:Cr2
|
UTSW |
1 |
194,832,344 (GRCm39) |
missense |
probably benign |
|
|
R7453:Cr2
|
UTSW |
1 |
194,847,565 (GRCm39) |
splice site |
probably null |
|
|
R7479:Cr2
|
UTSW |
1 |
194,840,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7480:Cr2
|
UTSW |
1 |
194,836,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Cr2
|
UTSW |
1 |
194,851,648 (GRCm39) |
nonsense |
probably null |
|
|
R7666:Cr2
|
UTSW |
1 |
194,836,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Cr2
|
UTSW |
1 |
194,833,975 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7923:Cr2
|
UTSW |
1 |
194,850,995 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8396:Cr2
|
UTSW |
1 |
194,840,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Cr2
|
UTSW |
1 |
194,845,850 (GRCm39) |
missense |
probably benign |
|
|
R8517:Cr2
|
UTSW |
1 |
194,838,207 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8773:Cr2
|
UTSW |
1 |
194,840,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Cr2
|
UTSW |
1 |
194,839,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Cr2
|
UTSW |
1 |
194,851,581 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8938:Cr2
|
UTSW |
1 |
194,853,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9027:Cr2
|
UTSW |
1 |
194,834,029 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9045:Cr2
|
UTSW |
1 |
194,837,680 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9116:Cr2
|
UTSW |
1 |
194,840,977 (GRCm39) |
nonsense |
probably null |
|
|
R9137:Cr2
|
UTSW |
1 |
194,850,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9476:Cr2
|
UTSW |
1 |
194,840,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9497:Cr2
|
UTSW |
1 |
194,850,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9510:Cr2
|
UTSW |
1 |
194,840,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9752:Cr2
|
UTSW |
1 |
194,823,575 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9799:Cr2
|
UTSW |
1 |
194,842,988 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0028:Cr2
|
UTSW |
1 |
194,832,290 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0066:Cr2
|
UTSW |
1 |
194,848,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Cr2
|
UTSW |
1 |
194,836,461 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCAACAAATGGTCTGCCCATAC -3'
(R):5'- GCTACCGCCTCATTGGAGAAAAGG -3'
Sequencing Primer
(F):5'- TGGTCTGCCCATACATGGAAG -3'
(R):5'- GCCTCATTGGAGAAAAGGCTATC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation