Incidental Mutation 'R0128:Cr2'
ID |
60490 |
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 |
038413-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R0128 (G1)
|
Quality Score |
214 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
194819119-194859024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 194848539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 328
(V328D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043104]
[ENSMUST00000082321]
[ENSMUST00000193801]
[ENSMUST00000195120]
[ENSMUST00000210219]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043104
AA Change: V308D
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044261 Gene: ENSMUSG00000026616 AA Change: V308D
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
|
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 |
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 benign
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: ENSMUST00000195347
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210219
AA Change: V328D
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195722
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.6%
- 10x: 93.0%
- 20x: 79.3%
|
Validation Efficiency |
99% (84/85) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,552,602 (GRCm39) |
|
probably benign |
Het |
Abcd4 |
T |
G |
12: 84,659,126 (GRCm39) |
Q210P |
possibly damaging |
Het |
Ablim2 |
G |
A |
5: 35,966,520 (GRCm39) |
|
probably benign |
Het |
Acte1 |
G |
T |
7: 143,445,492 (GRCm39) |
G178C |
probably damaging |
Het |
Actl6b |
A |
G |
5: 137,553,327 (GRCm39) |
N113S |
probably benign |
Het |
Actn3 |
A |
T |
19: 4,921,643 (GRCm39) |
V179E |
probably damaging |
Het |
Aff4 |
C |
A |
11: 53,306,293 (GRCm39) |
T1145N |
probably damaging |
Het |
Ankrd42 |
G |
A |
7: 92,241,067 (GRCm39) |
Q431* |
probably null |
Het |
Anxa9 |
A |
G |
3: 95,209,733 (GRCm39) |
S129P |
probably benign |
Het |
Arfgef2 |
T |
G |
2: 166,677,639 (GRCm39) |
I88S |
probably damaging |
Het |
Asap3 |
C |
A |
4: 135,961,915 (GRCm39) |
N285K |
probably damaging |
Het |
Atp6v0a2 |
A |
G |
5: 124,790,248 (GRCm39) |
N477S |
probably damaging |
Het |
Atp7b |
C |
T |
8: 22,518,188 (GRCm39) |
E205K |
possibly damaging |
Het |
Atp8b5 |
T |
A |
4: 43,369,715 (GRCm39) |
|
probably null |
Het |
C87436 |
G |
A |
6: 86,446,809 (GRCm39) |
G533D |
probably damaging |
Het |
Ccdc138 |
T |
A |
10: 58,364,182 (GRCm39) |
I314N |
probably damaging |
Het |
Ccs |
A |
G |
19: 4,875,654 (GRCm39) |
F237S |
probably damaging |
Het |
Ccz1 |
T |
G |
5: 143,946,112 (GRCm39) |
|
probably benign |
Het |
Cdcp2 |
C |
T |
4: 106,963,904 (GRCm39) |
|
probably benign |
Het |
Chd1 |
A |
G |
17: 17,613,829 (GRCm39) |
N531S |
probably damaging |
Het |
Clptm1 |
A |
T |
7: 19,368,932 (GRCm39) |
F476I |
probably damaging |
Het |
Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
Cped1 |
T |
A |
6: 22,121,038 (GRCm39) |
Y373N |
probably benign |
Het |
D630045J12Rik |
A |
T |
6: 38,126,706 (GRCm39) |
|
probably benign |
Het |
Dcdc2a |
A |
T |
13: 25,371,655 (GRCm39) |
|
probably benign |
Het |
Dlg1 |
G |
T |
16: 31,676,883 (GRCm39) |
|
probably null |
Het |
Epb41l5 |
A |
C |
1: 119,477,632 (GRCm39) |
V705G |
possibly damaging |
Het |
Ergic3 |
C |
A |
2: 155,853,060 (GRCm39) |
R43S |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,901,951 (GRCm38) |
V938A |
probably damaging |
Het |
Frmd4a |
T |
C |
2: 4,608,903 (GRCm39) |
Y928H |
probably damaging |
Het |
Fyn |
C |
T |
10: 39,387,978 (GRCm39) |
T78M |
probably benign |
Het |
Gdap2 |
A |
G |
3: 100,109,311 (GRCm39) |
T443A |
probably damaging |
Het |
Ghrl |
A |
T |
6: 113,694,129 (GRCm39) |
|
probably benign |
Het |
Gm4787 |
T |
A |
12: 81,424,521 (GRCm39) |
K546* |
probably null |
Het |
Gm6576 |
C |
G |
15: 27,026,086 (GRCm39) |
|
noncoding transcript |
Het |
Got1 |
C |
T |
19: 43,512,816 (GRCm39) |
D27N |
probably benign |
Het |
Gucy2c |
C |
T |
6: 136,681,247 (GRCm39) |
V946I |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,487,306 (GRCm39) |
Y3434H |
possibly damaging |
Het |
Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,448,170 (GRCm39) |
|
probably benign |
Het |
Kctd1 |
G |
A |
18: 15,107,237 (GRCm39) |
P743S |
probably benign |
Het |
Klhl23 |
T |
C |
2: 69,664,310 (GRCm39) |
V553A |
probably damaging |
Het |
Krt24 |
T |
C |
11: 99,171,093 (GRCm39) |
D495G |
probably damaging |
Het |
L3hypdh |
C |
T |
12: 72,123,917 (GRCm39) |
|
probably null |
Het |
Lipo3 |
C |
T |
19: 33,534,506 (GRCm39) |
|
probably null |
Het |
Lman2l |
G |
T |
1: 36,463,945 (GRCm39) |
S171* |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,401,520 (GRCm39) |
D378G |
probably damaging |
Het |
Map3k4 |
T |
A |
17: 12,466,950 (GRCm39) |
D1104V |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,438,587 (GRCm39) |
V15A |
probably benign |
Het |
Narf |
C |
T |
11: 121,141,662 (GRCm39) |
R356C |
probably damaging |
Het |
Nebl |
T |
A |
2: 17,397,834 (GRCm39) |
Q487H |
possibly damaging |
Het |
Olfm5 |
G |
A |
7: 103,810,133 (GRCm39) |
A76V |
probably benign |
Het |
Or1j11 |
T |
A |
2: 36,312,299 (GRCm39) |
D296E |
probably benign |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,788 (GRCm39) |
I301F |
probably damaging |
Het |
Or5ak22 |
T |
A |
2: 85,230,305 (GRCm39) |
S191C |
probably damaging |
Het |
Or8k40 |
T |
C |
2: 86,584,231 (GRCm39) |
M284V |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,727,389 (GRCm39) |
Y160* |
probably null |
Het |
Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
Paxip1 |
C |
T |
5: 27,949,183 (GRCm39) |
|
probably benign |
Het |
Pclo |
A |
G |
5: 14,729,811 (GRCm39) |
|
probably benign |
Het |
Pdcd11 |
G |
A |
19: 47,108,301 (GRCm39) |
V1223I |
probably benign |
Het |
Pde6c |
T |
C |
19: 38,157,813 (GRCm39) |
|
probably benign |
Het |
Prr12 |
A |
G |
7: 44,699,463 (GRCm39) |
|
probably benign |
Het |
Prss39 |
T |
A |
1: 34,541,281 (GRCm39) |
|
probably benign |
Het |
Samd5 |
A |
G |
10: 9,550,683 (GRCm39) |
W9R |
probably damaging |
Het |
Sfr1 |
A |
G |
19: 47,723,457 (GRCm39) |
*320W |
probably null |
Het |
Sft2d1rt |
A |
G |
11: 45,943,120 (GRCm39) |
M1T |
probably null |
Het |
Sh3bp4 |
A |
G |
1: 89,073,036 (GRCm39) |
N628S |
possibly damaging |
Het |
Sim1 |
A |
T |
10: 50,784,057 (GRCm39) |
I104F |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,665,693 (GRCm39) |
M519V |
probably benign |
Het |
Smcp |
T |
A |
3: 92,491,827 (GRCm39) |
T7S |
unknown |
Het |
Sp4 |
A |
G |
12: 118,264,551 (GRCm39) |
|
probably benign |
Het |
Spag9 |
T |
A |
11: 93,984,365 (GRCm39) |
I327N |
probably damaging |
Het |
Thbs4 |
G |
T |
13: 92,890,918 (GRCm39) |
H850N |
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,928,680 (GRCm39) |
S478T |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,054,693 (GRCm39) |
|
probably benign |
Het |
Vmn2r85 |
A |
G |
10: 130,255,054 (GRCm39) |
|
probably benign |
Het |
Wrap73 |
A |
G |
4: 154,226,957 (GRCm39) |
D19G |
possibly damaging |
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 |
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 |
|
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'- AACCTCTGCCCCAAGCTGGAGATTAG -3'
(R):5'- AACACATGGCCTTCCAAAGTGTGAC -3'
Sequencing Primer
(F):5'- actgctccctctccacc -3'
(R):5'- GCCTTCCAAAGTGTGACACATTG -3'
|
Posted On |
2013-07-24 |