Incidental Mutation 'R1990:Cr2'
| ID |
224818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr2
|
| Ensembl Gene |
ENSMUSG00000026616 |
| Gene Name |
complement receptor 2 |
| Synonyms |
C3DR, CD21, Cr-1, Cr1, CD35, Cr-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R1990 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
195136811-195176716 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 195154150 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1278
(P1278S)
|
| 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 benign
Transcript: ENSMUST00000082321
AA Change: P902S
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: P902S
| 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
AA Change: P605S
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: P605S
| 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 benign
Transcript: ENSMUST00000195120
AA Change: P902S
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: P902S
| 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 |
possibly damaging
Transcript: ENSMUST00000210219
AA Change: P1278S
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1743 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 138,065,658 (GRCm38) |
R203* |
probably null |
Het |
| Acp6 |
T |
C |
3: 97,175,738 (GRCm38) |
L355P |
probably damaging |
Het |
| Aebp2 |
T |
C |
6: 140,633,738 (GRCm38) |
S234P |
probably damaging |
Het |
| Anapc7 |
A |
G |
5: 122,439,504 (GRCm38) |
D374G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,001,039 (GRCm38) |
I1088F |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,132,436 (GRCm38) |
V92A |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,293,142 (GRCm38) |
Y575H |
probably damaging |
Het |
| Asxl2 |
G |
T |
12: 3,484,558 (GRCm38) |
G252* |
probably null |
Het |
| Atl1 |
A |
T |
12: 69,963,328 (GRCm38) |
K556M |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,162,264 (GRCm38) |
V206A |
probably benign |
Het |
| Bcas1 |
A |
T |
2: 170,370,477 (GRCm38) |
D383E |
possibly damaging |
Het |
| Bmx |
A |
G |
X: 164,232,196 (GRCm38) |
W257R |
probably benign |
Het |
| Bpifb6 |
T |
C |
2: 153,905,350 (GRCm38) |
|
probably null |
Het |
| Cacna1b |
G |
A |
2: 24,732,306 (GRCm38) |
P222L |
probably damaging |
Het |
| Cand1 |
A |
G |
10: 119,210,067 (GRCm38) |
S978P |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,637,881 (GRCm38) |
Y175N |
possibly damaging |
Het |
| Caps2 |
G |
A |
10: 112,200,686 (GRCm38) |
A384T |
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,721,045 (GRCm38) |
Y223* |
probably null |
Het |
| Cd81 |
G |
T |
7: 143,067,201 (GRCm38) |
G206* |
probably null |
Het |
| Cd84 |
A |
G |
1: 171,872,750 (GRCm38) |
T145A |
possibly damaging |
Het |
| Cdkn2aip |
G |
T |
8: 47,712,176 (GRCm38) |
N167K |
probably benign |
Het |
| Ceacam14 |
T |
A |
7: 17,815,365 (GRCm38) |
L227* |
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,757,880 (GRCm38) |
D725V |
probably damaging |
Het |
| Cldn34a |
A |
T |
X: 152,563,845 (GRCm38) |
H171L |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 77,081,154 (GRCm38) |
I114V |
unknown |
Het |
| Cp |
A |
G |
3: 19,979,013 (GRCm38) |
D667G |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,405,048 (GRCm38) |
Y452H |
possibly damaging |
Het |
| Cyp4f13 |
T |
A |
17: 32,925,568 (GRCm38) |
H318L |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,731,751 (GRCm38) |
A524V |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 131,058,288 (GRCm38) |
N527S |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 28,154,360 (GRCm38) |
D1583V |
probably damaging |
Het |
| Fgb |
G |
T |
3: 83,044,253 (GRCm38) |
Y256* |
probably null |
Het |
| Frmd3 |
T |
A |
4: 74,187,439 (GRCm38) |
S441T |
probably damaging |
Het |
| Glp1r |
T |
A |
17: 30,930,748 (GRCm38) |
C329S |
possibly damaging |
Het |
| Gm13757 |
A |
G |
2: 88,446,689 (GRCm38) |
L83P |
probably damaging |
Het |
| Gm14190 |
G |
T |
11: 99,690,605 (GRCm38) |
Q46K |
unknown |
Het |
| Golt1b |
T |
A |
6: 142,392,354 (GRCm38) |
F17Y |
probably damaging |
Het |
| Gsdmc |
A |
G |
15: 63,801,899 (GRCm38) |
I179T |
probably benign |
Het |
| Gsdmc2 |
T |
A |
15: 63,828,237 (GRCm38) |
M229L |
probably benign |
Het |
| Gulp1 |
A |
C |
1: 44,766,114 (GRCm38) |
N121T |
possibly damaging |
Het |
| Ift122 |
T |
A |
6: 115,924,367 (GRCm38) |
F1037I |
probably damaging |
Het |
| Ildr1 |
A |
T |
16: 36,716,206 (GRCm38) |
Y199F |
probably damaging |
Het |
| Ints2 |
T |
A |
11: 86,248,934 (GRCm38) |
H278L |
possibly damaging |
Het |
| Invs |
T |
C |
4: 48,392,599 (GRCm38) |
V271A |
possibly damaging |
Het |
| Kcnj2 |
T |
C |
11: 111,072,883 (GRCm38) |
I367T |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,161,770 (GRCm38) |
S1115P |
probably damaging |
Het |
| Lce1k |
A |
T |
3: 92,806,818 (GRCm38) |
C20S |
unknown |
Het |
| Lcmt2 |
C |
A |
2: 121,140,281 (GRCm38) |
R107L |
probably benign |
Het |
| Letm1 |
A |
AG |
5: 33,769,515 (GRCm38) |
|
probably null |
Het |
| Lrrc9 |
A |
C |
12: 72,497,861 (GRCm38) |
R71S |
probably damaging |
Het |
| Mcc |
C |
A |
18: 44,491,315 (GRCm38) |
E213* |
probably null |
Het |
| Mis18bp1 |
T |
C |
12: 65,158,694 (GRCm38) |
T235A |
probably benign |
Het |
| Mta2 |
C |
T |
19: 8,942,332 (GRCm38) |
|
probably benign |
Het |
| Nebl |
T |
A |
2: 17,452,510 (GRCm38) |
I80F |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,860,764 (GRCm38) |
T467A |
probably benign |
Het |
| Nexn |
A |
T |
3: 152,252,939 (GRCm38) |
F106I |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 109,039,775 (GRCm38) |
Y282* |
probably null |
Het |
| Nxf3 |
G |
A |
X: 136,075,834 (GRCm38) |
P380S |
possibly damaging |
Het |
| Oma1 |
C |
T |
4: 103,321,774 (GRCm38) |
T208I |
probably damaging |
Het |
| Or1a1 |
T |
C |
11: 74,196,163 (GRCm38) |
V220A |
probably damaging |
Het |
| Or4c31 |
A |
G |
2: 88,461,342 (GRCm38) |
M1V |
probably null |
Het |
| Or4d10c |
C |
A |
19: 12,088,256 (GRCm38) |
V179F |
probably damaging |
Het |
| Or51a42 |
A |
T |
7: 104,059,128 (GRCm38) |
I158N |
possibly damaging |
Het |
| Or52l1 |
A |
T |
7: 105,181,014 (GRCm38) |
C115S |
probably damaging |
Het |
| Or5p66 |
C |
A |
7: 108,286,359 (GRCm38) |
G256* |
probably null |
Het |
| Or5p70 |
A |
G |
7: 108,395,834 (GRCm38) |
Y238C |
probably benign |
Het |
| Panx2 |
A |
T |
15: 89,069,738 (GRCm38) |
Y632F |
possibly damaging |
Het |
| Pdia4 |
T |
C |
6: 47,796,655 (GRCm38) |
T587A |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,074,662 (GRCm38) |
L1426Q |
probably null |
Het |
| Pigk |
T |
A |
3: 152,744,494 (GRCm38) |
Y212N |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,654,268 (GRCm38) |
Y395F |
probably damaging |
Het |
| Prl3b1 |
C |
T |
13: 27,245,792 (GRCm38) |
T71I |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,942,429 (GRCm38) |
E929G |
possibly damaging |
Het |
| Rabl3 |
T |
C |
16: 37,563,717 (GRCm38) |
I162T |
probably benign |
Het |
| Rasgrf2 |
T |
A |
13: 92,035,965 (GRCm38) |
T188S |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 57,910,286 (GRCm38) |
I601V |
possibly damaging |
Het |
| Slc25a42 |
A |
T |
8: 70,191,869 (GRCm38) |
I60N |
probably benign |
Het |
| Slc2a3 |
C |
T |
6: 122,736,735 (GRCm38) |
G173S |
probably damaging |
Het |
| Slc46a3 |
G |
A |
5: 147,886,594 (GRCm38) |
T146M |
probably damaging |
Het |
| Specc1 |
C |
A |
11: 62,029,294 (GRCm38) |
P7T |
possibly damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,423,810 (GRCm38) |
D229G |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,451,050 (GRCm38) |
I154T |
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,748,890 (GRCm38) |
|
probably null |
Het |
| Stxbp6 |
A |
T |
12: 44,855,857 (GRCm38) |
C210* |
probably null |
Het |
| Tagap1 |
C |
T |
17: 6,956,886 (GRCm38) |
R137Q |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,271,303 (GRCm38) |
Y1163C |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,549,470 (GRCm38) |
L1367R |
probably damaging |
Het |
| Tnnt3 |
C |
T |
7: 142,511,525 (GRCm38) |
R131C |
possibly damaging |
Het |
| Tpx2 |
T |
A |
2: 152,890,624 (GRCm38) |
M606K |
probably benign |
Het |
| Trim46 |
A |
T |
3: 89,237,701 (GRCm38) |
Y489N |
probably damaging |
Het |
| Ttc28 |
C |
T |
5: 111,276,322 (GRCm38) |
S1485L |
probably benign |
Het |
| Txnl1 |
T |
C |
18: 63,679,514 (GRCm38) |
T70A |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,692,549 (GRCm38) |
L3053P |
probably damaging |
Het |
| Wars1 |
G |
T |
12: 108,888,433 (GRCm38) |
N18K |
possibly damaging |
Het |
| Wnt8a |
A |
G |
18: 34,544,884 (GRCm38) |
D115G |
probably damaging |
Het |
| Xndc1 |
T |
A |
7: 102,073,191 (GRCm38) |
V21E |
probably damaging |
Het |
| Zfp493 |
T |
A |
13: 67,786,269 (GRCm38) |
C114S |
probably damaging |
Het |
|
| Other mutations in Cr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Cr2
|
APN |
1 |
195,154,251 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL01326:Cr2
|
APN |
1 |
195,141,221 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL01358:Cr2
|
APN |
1 |
195,159,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01410:Cr2
|
APN |
1 |
195,163,234 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01468:Cr2
|
APN |
1 |
195,168,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01608:Cr2
|
APN |
1 |
195,155,220 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01810:Cr2
|
APN |
1 |
195,159,595 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01843:Cr2
|
APN |
1 |
195,150,914 (GRCm38) |
splice site |
probably benign |
|
|
IGL02332:Cr2
|
APN |
1 |
195,160,322 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02934:Cr2
|
APN |
1 |
195,154,325 (GRCm38) |
splice site |
probably benign |
|
|
IGL02938:Cr2
|
APN |
1 |
195,166,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03149:Cr2
|
APN |
1 |
195,166,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03327:Cr2
|
APN |
1 |
195,169,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03346:Cr2
|
APN |
1 |
195,169,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Pillar
|
UTSW |
1 |
195,155,888 (GRCm38) |
nonsense |
probably null |
|
|
PIT4354001:Cr2
|
UTSW |
1 |
195,166,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Cr2
|
UTSW |
1 |
195,157,452 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0128:Cr2
|
UTSW |
1 |
195,166,231 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0130:Cr2
|
UTSW |
1 |
195,166,231 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0380:Cr2
|
UTSW |
1 |
195,157,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0538:Cr2
|
UTSW |
1 |
195,160,359 (GRCm38) |
splice site |
probably benign |
|
|
R0605:Cr2
|
UTSW |
1 |
195,163,596 (GRCm38) |
splice site |
probably benign |
|
|
R0626:Cr2
|
UTSW |
1 |
195,171,111 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1135:Cr2
|
UTSW |
1 |
195,157,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:Cr2
|
UTSW |
1 |
195,169,253 (GRCm38) |
splice site |
probably null |
|
|
R1422:Cr2
|
UTSW |
1 |
195,171,125 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1467:Cr2
|
UTSW |
1 |
195,157,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Cr2
|
UTSW |
1 |
195,157,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1511:Cr2
|
UTSW |
1 |
195,155,272 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1572:Cr2
|
UTSW |
1 |
195,163,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1714:Cr2
|
UTSW |
1 |
195,151,686 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1748:Cr2
|
UTSW |
1 |
195,155,905 (GRCm38) |
nonsense |
probably null |
|
|
R1761:Cr2
|
UTSW |
1 |
195,155,123 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1824:Cr2
|
UTSW |
1 |
195,157,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1893:Cr2
|
UTSW |
1 |
195,155,187 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1991:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1992:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2191:Cr2
|
UTSW |
1 |
195,163,381 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2276:Cr2
|
UTSW |
1 |
195,157,368 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2277:Cr2
|
UTSW |
1 |
195,157,368 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3548:Cr2
|
UTSW |
1 |
195,155,888 (GRCm38) |
nonsense |
probably null |
|
|
R3743:Cr2
|
UTSW |
1 |
195,149,966 (GRCm38) |
splice site |
probably benign |
|
|
R3941:Cr2
|
UTSW |
1 |
195,165,814 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3963:Cr2
|
UTSW |
1 |
195,159,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4211:Cr2
|
UTSW |
1 |
195,156,328 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4484:Cr2
|
UTSW |
1 |
195,154,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4546:Cr2
|
UTSW |
1 |
195,171,041 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4791:Cr2
|
UTSW |
1 |
195,155,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Cr2
|
UTSW |
1 |
195,163,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4802:Cr2
|
UTSW |
1 |
195,163,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4874:Cr2
|
UTSW |
1 |
195,176,570 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4885:Cr2
|
UTSW |
1 |
195,158,731 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4889:Cr2
|
UTSW |
1 |
195,176,585 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5154:Cr2
|
UTSW |
1 |
195,159,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5574:Cr2
|
UTSW |
1 |
195,141,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5594:Cr2
|
UTSW |
1 |
195,157,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5645:Cr2
|
UTSW |
1 |
195,154,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5700:Cr2
|
UTSW |
1 |
195,159,757 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5929:Cr2
|
UTSW |
1 |
195,171,111 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6237:Cr2
|
UTSW |
1 |
195,157,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6299:Cr2
|
UTSW |
1 |
195,168,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6368:Cr2
|
UTSW |
1 |
195,168,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6406:Cr2
|
UTSW |
1 |
195,169,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6618:Cr2
|
UTSW |
1 |
195,157,379 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6684:Cr2
|
UTSW |
1 |
195,171,021 (GRCm38) |
nonsense |
probably null |
|
|
R6720:Cr2
|
UTSW |
1 |
195,155,200 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6866:Cr2
|
UTSW |
1 |
195,151,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6915:Cr2
|
UTSW |
1 |
195,171,146 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7057:Cr2
|
UTSW |
1 |
195,151,610 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7117:Cr2
|
UTSW |
1 |
195,160,601 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7200:Cr2
|
UTSW |
1 |
195,163,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7209:Cr2
|
UTSW |
1 |
195,168,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7350:Cr2
|
UTSW |
1 |
195,155,286 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7414:Cr2
|
UTSW |
1 |
195,150,036 (GRCm38) |
missense |
probably benign |
|
|
R7453:Cr2
|
UTSW |
1 |
195,165,257 (GRCm38) |
splice site |
probably null |
|
|
R7479:Cr2
|
UTSW |
1 |
195,158,410 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7480:Cr2
|
UTSW |
1 |
195,154,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7570:Cr2
|
UTSW |
1 |
195,169,340 (GRCm38) |
nonsense |
probably null |
|
|
R7666:Cr2
|
UTSW |
1 |
195,154,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7921:Cr2
|
UTSW |
1 |
195,151,667 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7923:Cr2
|
UTSW |
1 |
195,168,687 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8396:Cr2
|
UTSW |
1 |
195,158,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8503:Cr2
|
UTSW |
1 |
195,163,542 (GRCm38) |
missense |
probably benign |
|
|
R8517:Cr2
|
UTSW |
1 |
195,155,899 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8773:Cr2
|
UTSW |
1 |
195,158,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8849:Cr2
|
UTSW |
1 |
195,157,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8896:Cr2
|
UTSW |
1 |
195,169,273 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8938:Cr2
|
UTSW |
1 |
195,171,116 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9027:Cr2
|
UTSW |
1 |
195,151,721 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9045:Cr2
|
UTSW |
1 |
195,155,372 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9116:Cr2
|
UTSW |
1 |
195,158,669 (GRCm38) |
nonsense |
probably null |
|
|
R9137:Cr2
|
UTSW |
1 |
195,168,332 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9476:Cr2
|
UTSW |
1 |
195,158,108 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9497:Cr2
|
UTSW |
1 |
195,168,435 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9510:Cr2
|
UTSW |
1 |
195,158,108 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9752:Cr2
|
UTSW |
1 |
195,141,267 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9799:Cr2
|
UTSW |
1 |
195,160,680 (GRCm38) |
missense |
probably benign |
0.02 |
|
X0028:Cr2
|
UTSW |
1 |
195,149,982 (GRCm38) |
missense |
probably benign |
0.09 |
|
X0066:Cr2
|
UTSW |
1 |
195,166,321 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Cr2
|
UTSW |
1 |
195,154,153 (GRCm38) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGATGTTTGTCAAATGCAC -3'
(R):5'- AAGCTTCTTTAGGGTGTCAGTCTC -3'
Sequencing Primer
(F):5'- ACAATAGGGTCACTATAGCAA -3'
(R):5'- AGGGTGTCAGTCTCCATCCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation