Incidental Mutation 'R1467:Cr2'
| ID |
197566 |
| 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 |
039520-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1467 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
194819119-194859024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 194839817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 913
(G913R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082321]
[ENSMUST00000193356]
[ENSMUST00000193801]
[ENSMUST00000195120]
[ENSMUST00000210219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082321
AA Change: G537R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: G537R
| 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 |
noncoding transcript
Transcript: ENSMUST00000192604
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193356
AA Change: G240R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: G240R
| 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 |
probably damaging
Transcript: ENSMUST00000195120
AA Change: G537R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: G537R
| 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: ENSMUST00000195737
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210219
AA Change: G913R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8889 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.1%
- 10x: 95.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (104/105) |
| 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: 114 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930430O22Rik |
T |
C |
5: 115,574,234 (GRCm39) |
|
probably benign |
Het |
| A630010A05Rik |
C |
A |
16: 14,436,447 (GRCm39) |
L167I |
possibly damaging |
Het |
| Abca14 |
A |
T |
7: 119,815,405 (GRCm39) |
M218L |
possibly damaging |
Het |
| Abca15 |
C |
A |
7: 119,939,761 (GRCm39) |
|
probably null |
Het |
| Acod1 |
T |
C |
14: 103,292,003 (GRCm39) |
F176L |
probably benign |
Het |
| Actr5 |
A |
G |
2: 158,480,617 (GRCm39) |
H545R |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,088,396 (GRCm39) |
T472A |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,548,910 (GRCm39) |
K469R |
possibly damaging |
Het |
| Ambra1 |
A |
T |
2: 91,716,048 (GRCm39) |
Q853L |
probably damaging |
Het |
| Apol7e |
G |
T |
15: 77,601,966 (GRCm39) |
G188V |
probably damaging |
Het |
| Atg7 |
T |
A |
6: 114,835,943 (GRCm39) |
|
probably benign |
Het |
| AU018091 |
A |
T |
7: 3,214,089 (GRCm39) |
W43R |
probably benign |
Het |
| Baat |
A |
G |
4: 49,503,101 (GRCm39) |
V7A |
probably benign |
Het |
| Bcas1 |
C |
A |
2: 170,229,852 (GRCm39) |
Q249H |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,090,094 (GRCm39) |
V676D |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
| Brca1 |
A |
T |
11: 101,421,933 (GRCm39) |
|
probably benign |
Het |
| Btg3 |
A |
G |
16: 78,161,688 (GRCm39) |
|
probably null |
Het |
| CAAA01180111.1 |
C |
A |
9: 124,058,093 (GRCm39) |
V9L |
possibly damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,055,736 (GRCm39) |
N298S |
possibly damaging |
Het |
| Carf |
G |
A |
1: 60,167,152 (GRCm39) |
V127I |
possibly damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,884,433 (GRCm39) |
S916G |
probably damaging |
Het |
| Cers1 |
T |
C |
8: 70,775,819 (GRCm39) |
S274P |
possibly damaging |
Het |
| Ces4a |
T |
A |
8: 105,864,667 (GRCm39) |
V48E |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,805,625 (GRCm39) |
H1495L |
probably benign |
Het |
| Clec4e |
G |
A |
6: 123,262,420 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 115,612,898 (GRCm39) |
L11* |
probably null |
Het |
| Cul9 |
A |
G |
17: 46,836,299 (GRCm39) |
L1155P |
probably damaging |
Het |
| D130052B06Rik |
C |
T |
11: 33,573,622 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,957,071 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
A |
T |
9: 118,971,646 (GRCm39) |
D1278V |
probably damaging |
Het |
| Dmrt2 |
A |
G |
19: 25,650,970 (GRCm39) |
E52G |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,376,688 (GRCm39) |
K1491R |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,832,753 (GRCm39) |
V869A |
probably benign |
Het |
| Eef1d |
A |
T |
15: 75,767,770 (GRCm39) |
D206E |
probably damaging |
Het |
| Erbb2 |
C |
T |
11: 98,327,001 (GRCm39) |
Q1137* |
probably null |
Het |
| Ercc2 |
T |
A |
7: 19,119,811 (GRCm39) |
D157E |
probably benign |
Het |
| Eri1 |
A |
G |
8: 35,936,284 (GRCm39) |
*346Q |
probably null |
Het |
| Espl1 |
A |
G |
15: 102,228,293 (GRCm39) |
E1689G |
probably benign |
Het |
| Fap |
C |
T |
2: 62,347,964 (GRCm39) |
V539I |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,701,866 (GRCm39) |
F1871S |
probably benign |
Het |
| Gabpb1 |
T |
G |
2: 126,494,247 (GRCm39) |
Y126S |
probably damaging |
Het |
| Ganc |
A |
T |
2: 120,261,409 (GRCm39) |
|
probably benign |
Het |
| Gm9839 |
T |
A |
1: 32,559,594 (GRCm39) |
R163* |
probably null |
Het |
| Grm1 |
T |
C |
10: 10,595,702 (GRCm39) |
Y642C |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,024,841 (GRCm39) |
T327A |
possibly damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,099,027 (GRCm39) |
D212G |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
| Hoxb9 |
A |
G |
11: 96,162,764 (GRCm39) |
T133A |
probably benign |
Het |
| Insr |
A |
T |
8: 3,219,720 (GRCm39) |
V934E |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,545 (GRCm39) |
Q481* |
probably null |
Het |
| Kifap3 |
T |
C |
1: 163,656,689 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,925,047 (GRCm39) |
M1120K |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,547,368 (GRCm39) |
|
probably benign |
Het |
| Lrrc38 |
A |
T |
4: 143,096,450 (GRCm39) |
I254F |
probably damaging |
Het |
| Lyrm7 |
A |
G |
11: 54,741,215 (GRCm39) |
F40L |
probably damaging |
Het |
| Mfsd4b1 |
C |
T |
10: 39,878,631 (GRCm39) |
S422N |
possibly damaging |
Het |
| Mlh3 |
A |
T |
12: 85,284,374 (GRCm39) |
L1380* |
probably null |
Het |
| Mrpl24 |
C |
A |
3: 87,829,744 (GRCm39) |
A110D |
probably benign |
Het |
| Mrps14 |
T |
C |
1: 160,024,520 (GRCm39) |
V17A |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,755,322 (GRCm39) |
D340G |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,702,068 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,120,059 (GRCm39) |
Y3900C |
probably damaging |
Het |
| Neurod4 |
T |
C |
10: 130,106,473 (GRCm39) |
D267G |
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,319,452 (GRCm39) |
I536F |
possibly damaging |
Het |
| Nkg7 |
C |
T |
7: 43,086,857 (GRCm39) |
P44S |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,185 (GRCm39) |
V105A |
possibly damaging |
Het |
| Or4a67 |
T |
C |
2: 88,597,832 (GRCm39) |
I276V |
probably benign |
Het |
| P3h2 |
A |
T |
16: 25,784,618 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
A |
G |
11: 53,997,236 (GRCm39) |
|
probably benign |
Het |
| Pcif1 |
T |
C |
2: 164,731,058 (GRCm39) |
Y404H |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,480,289 (GRCm39) |
L2006Q |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,724,922 (GRCm39) |
S821T |
possibly damaging |
Het |
| Pde8b |
T |
A |
13: 95,170,680 (GRCm39) |
D662V |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,343,000 (GRCm39) |
P113S |
unknown |
Het |
| Pkd2l1 |
G |
T |
19: 44,142,648 (GRCm39) |
Q465K |
possibly damaging |
Het |
| Plch2 |
G |
T |
4: 155,068,189 (GRCm39) |
P1479Q |
probably benign |
Het |
| Plekhm3 |
A |
T |
1: 64,932,041 (GRCm39) |
I521N |
probably damaging |
Het |
| Pola2 |
A |
T |
19: 5,992,093 (GRCm39) |
Y526* |
probably null |
Het |
| Prdm14 |
C |
A |
1: 13,194,756 (GRCm39) |
|
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,217 (GRCm39) |
D284G |
probably damaging |
Het |
| Psme2b |
A |
G |
11: 48,836,467 (GRCm39) |
F160S |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
| Rbbp9 |
G |
T |
2: 144,385,777 (GRCm39) |
R163S |
possibly damaging |
Het |
| Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
| Rhou |
T |
C |
8: 124,388,029 (GRCm39) |
W254R |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,583,347 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
A |
G |
12: 51,478,281 (GRCm39) |
K498E |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,519,902 (GRCm39) |
Y1001H |
probably benign |
Het |
| Setx |
T |
A |
2: 29,048,917 (GRCm39) |
V1981E |
probably damaging |
Het |
| Sfxn1 |
T |
C |
13: 54,247,890 (GRCm39) |
I205T |
possibly damaging |
Het |
| Shld2 |
G |
T |
14: 33,990,619 (GRCm39) |
H96N |
possibly damaging |
Het |
| Slc5a2 |
T |
C |
7: 127,870,428 (GRCm39) |
|
probably benign |
Het |
| Speer1g |
C |
T |
5: 11,180,337 (GRCm39) |
H82Y |
probably damaging |
Het |
| Spock1 |
G |
A |
13: 57,577,182 (GRCm39) |
R416C |
possibly damaging |
Het |
| Spred2 |
A |
G |
11: 19,968,109 (GRCm39) |
I222V |
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,839,407 (GRCm39) |
T358S |
probably benign |
Het |
| Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,305,444 (GRCm39) |
S223P |
probably damaging |
Het |
| Tdpoz1 |
T |
A |
3: 93,578,637 (GRCm39) |
E49V |
probably benign |
Het |
| Tert |
A |
G |
13: 73,776,328 (GRCm39) |
T360A |
probably benign |
Het |
| Tspear |
A |
G |
10: 77,717,026 (GRCm39) |
Y567C |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,433,254 (GRCm39) |
Q2096R |
probably benign |
Het |
| Ttll5 |
A |
G |
12: 85,965,736 (GRCm39) |
|
probably null |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,028 (GRCm39) |
H326L |
probably damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,510,301 (GRCm39) |
F24S |
possibly damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,133 (GRCm39) |
I711F |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,341,134 (GRCm39) |
Q1537* |
probably null |
Het |
| Wdr64 |
G |
A |
1: 175,603,288 (GRCm39) |
V630I |
probably benign |
Het |
| Wnt6 |
G |
T |
1: 74,821,434 (GRCm39) |
W84L |
probably damaging |
Het |
| Zfp11 |
C |
A |
5: 129,735,254 (GRCm39) |
R69L |
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 |
|
R1511:Cr2
|
UTSW |
1 |
194,837,580 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1572:Cr2
|
UTSW |
1 |
194,845,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTCCATTTTCAACATGAACGTCTGTGC -3'
(R):5'- CCAAAATTCCTACTTTGGGTTGCGTC -3'
Sequencing Primer
(F):5'- AGCTGGGAGGGAAAGTTTAC -3'
(R):5'- agtgaagagataggagattggtg -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation