Incidental Mutation 'R1761:Cr2'
| ID |
192741 |
| 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 |
039793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
194819119-194859024 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 194837431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082321]
[ENSMUST00000193356]
[ENSMUST00000193801]
[ENSMUST00000195120]
[ENSMUST00000210219]
[ENSMUST00000210219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000082321
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
| 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 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: ENSMUST00000193436
|
| 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 null
Transcript: ENSMUST00000195120
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
| 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 null
Transcript: ENSMUST00000210219
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210219
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
| Acan |
T |
A |
7: 78,743,833 (GRCm39) |
Y621* |
probably null |
Het |
| Aig1 |
T |
C |
10: 13,566,328 (GRCm39) |
Y152C |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,232,488 (GRCm39) |
|
probably null |
Het |
| Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
| Cbx5 |
T |
C |
15: 103,121,607 (GRCm39) |
D10G |
possibly damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,763,873 (GRCm39) |
I445V |
probably benign |
Het |
| Cdk4 |
T |
A |
10: 126,900,546 (GRCm39) |
|
probably benign |
Het |
| Chil6 |
A |
G |
3: 106,301,654 (GRCm39) |
F149L |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 10,172,059 (GRCm39) |
T42A |
probably benign |
Het |
| Cpn2 |
A |
T |
16: 30,079,014 (GRCm39) |
I229N |
probably damaging |
Het |
| Cpne8 |
A |
G |
15: 90,532,821 (GRCm39) |
V62A |
probably damaging |
Het |
| Crnn |
A |
T |
3: 93,055,958 (GRCm39) |
H248L |
probably benign |
Het |
| Csn1s1 |
A |
G |
5: 87,826,894 (GRCm39) |
S254G |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,494,128 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,971,177 (GRCm39) |
L220P |
probably benign |
Het |
| Fam110a |
T |
C |
2: 151,812,125 (GRCm39) |
E215G |
probably benign |
Het |
| Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,941,638 (GRCm39) |
V177A |
possibly damaging |
Het |
| Fzd8 |
C |
T |
18: 9,213,643 (GRCm39) |
R242C |
probably damaging |
Het |
| Gimap5 |
A |
T |
6: 48,730,195 (GRCm39) |
Q255L |
probably damaging |
Het |
| Gm4787 |
A |
G |
12: 81,423,950 (GRCm39) |
L736S |
probably benign |
Het |
| Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
| Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
| Gpr179 |
A |
C |
11: 97,225,932 (GRCm39) |
S2074R |
probably benign |
Het |
| Hddc2 |
G |
T |
10: 31,202,135 (GRCm39) |
D161Y |
probably damaging |
Het |
| Hlcs |
T |
C |
16: 94,068,866 (GRCm39) |
D265G |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,241,984 (GRCm39) |
I573F |
possibly damaging |
Het |
| Il1b |
T |
C |
2: 129,207,101 (GRCm39) |
K220E |
probably damaging |
Het |
| Il5 |
T |
C |
11: 53,614,557 (GRCm39) |
I66T |
probably damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
| Klra1 |
A |
T |
6: 130,349,836 (GRCm39) |
Y201N |
probably damaging |
Het |
| Lmf2 |
A |
G |
15: 89,236,916 (GRCm39) |
V442A |
possibly damaging |
Het |
| Mcm2 |
T |
C |
6: 88,866,770 (GRCm39) |
I412M |
possibly damaging |
Het |
| Mlkl |
T |
A |
8: 112,060,355 (GRCm39) |
L18F |
possibly damaging |
Het |
| Mug2 |
C |
A |
6: 122,051,664 (GRCm39) |
H949N |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,275,091 (GRCm39) |
F51L |
probably damaging |
Het |
| Or52j3 |
T |
G |
7: 102,836,325 (GRCm39) |
C172W |
probably damaging |
Het |
| Or7d10 |
A |
T |
9: 19,832,445 (GRCm39) |
*313C |
probably null |
Het |
| Or8k18 |
T |
G |
2: 86,085,383 (GRCm39) |
Y218S |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,803,800 (GRCm39) |
E322G |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,342,438 (GRCm39) |
Y182H |
probably benign |
Het |
| Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
| Ptdss1 |
T |
C |
13: 67,104,476 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,584,040 (GRCm39) |
I154F |
probably damaging |
Het |
| Scgn |
A |
T |
13: 24,143,689 (GRCm39) |
F225Y |
probably damaging |
Het |
| Sec61b |
T |
C |
4: 47,480,137 (GRCm39) |
C58R |
possibly damaging |
Het |
| Slc25a46 |
G |
T |
18: 31,740,315 (GRCm39) |
Q96K |
possibly damaging |
Het |
| Spmip6 |
G |
A |
4: 41,507,223 (GRCm39) |
P109L |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,659,382 (GRCm39) |
F1173L |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,134,017 (GRCm39) |
C893S |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,380,641 (GRCm39) |
E509G |
probably damaging |
Het |
| Timm10b |
C |
T |
7: 105,332,915 (GRCm39) |
R897* |
probably null |
Het |
| Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,849,617 (GRCm39) |
I541V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
| Vgll3 |
A |
T |
16: 65,636,614 (GRCm39) |
D310V |
probably damaging |
Het |
| Vmac |
A |
G |
17: 57,022,788 (GRCm39) |
L74P |
probably damaging |
Het |
| Zbtb1 |
A |
T |
12: 76,432,595 (GRCm39) |
K194* |
probably null |
Het |
| Zfp429 |
A |
G |
13: 67,544,195 (GRCm39) |
M76T |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,460 (GRCm39) |
C230S |
possibly damaging |
Het |
| Zfp980 |
A |
G |
4: 145,428,612 (GRCm39) |
Y447C |
probably damaging |
Het |
| Zfp985 |
A |
G |
4: 147,668,502 (GRCm39) |
T457A |
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 |
|
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 |
|
|
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'- TGAAGCTGCACCTCACTAGCAAG -3'
(R):5'- CTAACTCATTGCCCCGATCCAGAAG -3'
Sequencing Primer
(F):5'- GAAGGTCAGCTTCATTCTTCATTAC -3'
(R):5'- GATCCAGAAGTCAAACATGGTTAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation