Incidental Mutation 'R1511:Cr2'
| ID |
168268 |
| 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 |
039558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R1511 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
194819119-194859024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 194837580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 797
(K797Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141538
(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: K797Q
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: K797Q
| 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: K500Q
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: K500Q
| 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 |
possibly damaging
Transcript: ENSMUST00000195120
AA Change: K797Q
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: K797Q
| 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 benign
Transcript: ENSMUST00000210219
AA Change: K1173Q
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.7%
|
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
C |
A |
5: 125,592,041 (GRCm39) |
N576K |
probably benign |
Het |
| Abca5 |
G |
T |
11: 110,190,804 (GRCm39) |
L769M |
probably damaging |
Het |
| Abca5 |
T |
A |
11: 110,190,812 (GRCm39) |
H766L |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,177,896 (GRCm39) |
I191T |
probably damaging |
Het |
| Agps |
A |
T |
2: 75,697,123 (GRCm39) |
E314D |
probably damaging |
Het |
| Agxt |
G |
A |
1: 93,063,490 (GRCm39) |
G131R |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,632,758 (GRCm39) |
T326A |
probably benign |
Het |
| Aldoart2 |
T |
A |
12: 55,613,062 (GRCm39) |
I329N |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,896,047 (GRCm39) |
I342V |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,369,081 (GRCm39) |
S68P |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| AU022252 |
C |
T |
4: 119,085,294 (GRCm39) |
R71Q |
possibly damaging |
Het |
| Baz1b |
T |
C |
5: 135,246,636 (GRCm39) |
L695P |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,792,368 (GRCm39) |
S587T |
probably benign |
Het |
| Cep76 |
T |
C |
18: 67,758,028 (GRCm39) |
M421V |
probably benign |
Het |
| Clk2 |
A |
G |
3: 89,076,010 (GRCm39) |
D60G |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,439,128 (GRCm39) |
T6K |
probably damaging |
Het |
| Cluap1 |
T |
A |
16: 3,737,422 (GRCm39) |
D180E |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,606,834 (GRCm39) |
I530V |
probably benign |
Het |
| Cpt1a |
T |
C |
19: 3,415,788 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
C |
A |
16: 59,374,475 (GRCm39) |
V2260L |
probably benign |
Het |
| Csnk1a1 |
T |
A |
18: 61,718,321 (GRCm39) |
|
probably benign |
Het |
| Cxcr1 |
T |
C |
1: 74,231,929 (GRCm39) |
D31G |
probably benign |
Het |
| Cyp2a5 |
G |
T |
7: 26,535,361 (GRCm39) |
D108Y |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,227,538 (GRCm39) |
V376A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,186,278 (GRCm39) |
V462A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,474,647 (GRCm39) |
K357R |
possibly damaging |
Het |
| Eml6 |
T |
A |
11: 29,768,374 (GRCm39) |
H771L |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 33,965,717 (GRCm39) |
I370T |
probably benign |
Het |
| Esp36 |
A |
T |
17: 38,728,172 (GRCm39) |
N79K |
possibly damaging |
Het |
| Fam229b |
A |
G |
10: 38,994,915 (GRCm39) |
*81Q |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,037,225 (GRCm39) |
Y3626H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,148,205 (GRCm39) |
F2681Y |
probably benign |
Het |
| Gad1-ps |
A |
G |
10: 99,281,331 (GRCm39) |
|
noncoding transcript |
Het |
| Galm |
C |
A |
17: 80,490,696 (GRCm39) |
N284K |
probably damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,316,446 (GRCm39) |
S735T |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,553,848 (GRCm39) |
S207T |
probably benign |
Het |
| Il33 |
C |
T |
19: 29,932,615 (GRCm39) |
R159C |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,382,148 (GRCm39) |
N106S |
possibly damaging |
Het |
| Kif21b |
G |
T |
1: 136,097,062 (GRCm39) |
|
probably null |
Het |
| Kirrel2 |
A |
G |
7: 30,155,923 (GRCm39) |
C42R |
probably damaging |
Het |
| Letm1 |
A |
C |
5: 33,909,899 (GRCm39) |
C378W |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,791 (GRCm39) |
K160N |
probably benign |
Het |
| Lrrtm3 |
A |
G |
10: 63,924,804 (GRCm39) |
I121T |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,327,534 (GRCm39) |
V79E |
probably damaging |
Het |
| Mmp8 |
T |
G |
9: 7,566,279 (GRCm39) |
D378E |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,977,827 (GRCm39) |
E145G |
probably damaging |
Het |
| Mrps2 |
C |
T |
2: 28,359,676 (GRCm39) |
L178F |
probably damaging |
Het |
| Mzb1 |
A |
G |
18: 35,780,875 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
T |
C |
2: 80,383,759 (GRCm39) |
D135G |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,830,242 (GRCm39) |
F623L |
possibly damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,112,772 (GRCm39) |
D143V |
probably damaging |
Het |
| Or14a260 |
T |
C |
7: 85,985,553 (GRCm39) |
D17G |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,592 (GRCm39) |
M296V |
probably null |
Het |
| Or4b1d |
A |
G |
2: 89,968,748 (GRCm39) |
V245A |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,001,281 (GRCm39) |
S92P |
probably damaging |
Het |
| Or4f58 |
A |
G |
2: 111,851,749 (GRCm39) |
V150A |
probably benign |
Het |
| Or52b4i |
T |
C |
7: 102,191,332 (GRCm39) |
L63P |
probably damaging |
Het |
| Or8b44 |
A |
G |
9: 38,410,114 (GRCm39) |
I50V |
probably benign |
Het |
| Or8g17 |
T |
C |
9: 38,930,321 (GRCm39) |
D172G |
probably benign |
Het |
| Parp14 |
T |
G |
16: 35,677,594 (GRCm39) |
E791D |
probably benign |
Het |
| Pcdh8 |
C |
T |
14: 80,006,829 (GRCm39) |
R578H |
possibly damaging |
Het |
| Phrf1 |
T |
A |
7: 140,839,714 (GRCm39) |
|
probably benign |
Het |
| Polr3b |
C |
A |
10: 84,516,249 (GRCm39) |
H626N |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,087,720 (GRCm39) |
T58A |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,132,460 (GRCm39) |
V33D |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,743,907 (GRCm39) |
Y176H |
probably damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,124,742 (GRCm39) |
Y343C |
probably damaging |
Het |
| Rabac1 |
C |
T |
7: 24,671,555 (GRCm39) |
V122M |
probably damaging |
Het |
| Rasef |
G |
T |
4: 73,653,985 (GRCm39) |
Q561K |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,037,554 (GRCm39) |
S198P |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,939,456 (GRCm39) |
M272K |
probably damaging |
Het |
| Rexo1 |
T |
G |
10: 80,385,884 (GRCm39) |
K391N |
possibly damaging |
Het |
| Rnf43 |
T |
C |
11: 87,622,173 (GRCm39) |
S384P |
probably benign |
Het |
| Rpsa |
A |
T |
9: 119,960,066 (GRCm39) |
I210F |
possibly damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,247,016 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,357,157 (GRCm39) |
D1048V |
probably benign |
Het |
| Sec11a |
T |
C |
7: 80,577,482 (GRCm39) |
|
probably null |
Het |
| Sidt2 |
A |
G |
9: 45,861,387 (GRCm39) |
V19A |
probably damaging |
Het |
| Snx14 |
G |
A |
9: 88,280,417 (GRCm39) |
Q522* |
probably null |
Het |
| Stx1b |
A |
G |
7: 127,414,144 (GRCm39) |
L74S |
probably damaging |
Het |
| Tm7sf3 |
A |
T |
6: 146,511,376 (GRCm39) |
M371K |
probably benign |
Het |
| Tmem115 |
T |
C |
9: 107,412,174 (GRCm39) |
V166A |
probably benign |
Het |
| Traf5 |
T |
A |
1: 191,731,912 (GRCm39) |
T310S |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,342,448 (GRCm39) |
K619E |
probably benign |
Het |
| Trmt10a |
T |
A |
3: 137,857,945 (GRCm39) |
|
probably null |
Het |
| Txk |
A |
C |
5: 72,865,014 (GRCm39) |
I287R |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,344 (GRCm39) |
D452G |
probably damaging |
Het |
| Ube2f |
G |
A |
1: 91,190,023 (GRCm39) |
|
probably null |
Het |
| Ubtfl1 |
T |
G |
9: 18,321,489 (GRCm39) |
I339R |
probably benign |
Het |
| Upf1 |
A |
G |
8: 70,791,155 (GRCm39) |
I529T |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,823 (GRCm39) |
D248G |
possibly damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,771 (GRCm39) |
T149S |
probably benign |
Het |
| Vmn1r83 |
C |
T |
7: 12,055,197 (GRCm39) |
V287I |
possibly damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,915,496 (GRCm39) |
R485* |
probably null |
Het |
| Vmn2r130 |
A |
G |
17: 23,282,775 (GRCm39) |
T152A |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,840,121 (GRCm39) |
F2448L |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,841,719 (GRCm39) |
N2583S |
probably benign |
Het |
| Wscd1 |
C |
T |
11: 71,679,501 (GRCm39) |
P458L |
probably damaging |
Het |
| Xylt2 |
T |
A |
11: 94,561,259 (GRCm39) |
D168V |
probably damaging |
Het |
| Zdhhc2 |
A |
G |
8: 40,921,013 (GRCm39) |
T306A |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,819,771 (GRCm39) |
D1097E |
possibly damaging |
Het |
| Zfp93 |
T |
A |
7: 23,975,156 (GRCm39) |
C380* |
probably null |
Het |
| Zfp960 |
T |
A |
17: 17,308,518 (GRCm39) |
C411S |
probably damaging |
Het |
| Zmynd15 |
T |
A |
11: 70,355,619 (GRCm39) |
V430E |
probably 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 |
|
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 |
|
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'- TGAAGCTGCACCTCACTAGCAAG -3'
(R):5'- CACAGGCATGATGGCAAAGCAC -3'
Sequencing Primer
(F):5'- ATCACCATTTCAGGTAATCTTGC -3'
(R):5'- TTGGGAGAGAAAAGTTTGCAGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation