Incidental Mutation 'R4609:Vmn2r88'
| ID |
344543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r13, V2r3 |
| MMRRC Submission |
041820-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R4609 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51655531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 580
(D580V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022438
AA Change: D589V
PolyPhen 2
Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: D589V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
|
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159674
AA Change: D580V
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: D580V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
|
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
|
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163019
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228139
AA Change: D581V
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
C |
15: 85,378,370 (GRCm39) |
D91G |
unknown |
Het |
| Adam10 |
T |
C |
9: 70,647,425 (GRCm39) |
Y42H |
probably damaging |
Het |
| Baiap3 |
A |
T |
17: 25,469,235 (GRCm39) |
C183S |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bmp1 |
C |
T |
14: 70,715,406 (GRCm39) |
V910M |
probably benign |
Het |
| Brdt |
G |
A |
5: 107,507,802 (GRCm39) |
A677T |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,587,578 (GRCm39) |
M304K |
probably damaging |
Het |
| Car9 |
A |
T |
4: 43,507,267 (GRCm39) |
D71V |
possibly damaging |
Het |
| Chml |
A |
T |
1: 175,514,723 (GRCm39) |
Y399* |
probably null |
Het |
| Cilk1 |
T |
A |
9: 78,075,071 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,430,765 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
G |
A |
1: 99,700,572 (GRCm39) |
|
probably null |
Het |
| Cpvl |
A |
T |
6: 53,951,605 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
G |
A |
1: 93,096,516 (GRCm39) |
V24M |
possibly damaging |
Het |
| Cxcl16 |
T |
C |
11: 70,346,255 (GRCm39) |
Y226C |
probably damaging |
Het |
| Dio3 |
G |
T |
12: 110,246,444 (GRCm39) |
R260L |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,353,796 (GRCm39) |
L724P |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,495,816 (GRCm39) |
F3214V |
possibly damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,295,999 (GRCm39) |
Y223* |
probably null |
Het |
| Dpysl4 |
T |
C |
7: 138,678,537 (GRCm39) |
V499A |
probably damaging |
Het |
| Ets2 |
A |
T |
16: 95,512,818 (GRCm39) |
K101N |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,323,341 (GRCm39) |
Y200* |
probably null |
Het |
| Fem1c |
A |
T |
18: 46,639,015 (GRCm39) |
I329N |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,037,431 (GRCm39) |
I384T |
probably damaging |
Het |
| Gm8919 |
T |
C |
3: 11,724,530 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q5 |
A |
T |
17: 35,616,056 (GRCm39) |
H206L |
probably benign |
Het |
| Hexa |
T |
C |
9: 59,464,602 (GRCm39) |
F164S |
probably benign |
Het |
| Hk1 |
G |
T |
10: 62,194,194 (GRCm39) |
|
probably benign |
Het |
| Itih4 |
G |
A |
14: 30,623,626 (GRCm39) |
G915R |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,475,292 (GRCm39) |
|
probably null |
Het |
| Krtap10-4 |
A |
T |
10: 77,662,630 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
T |
3: 51,763,013 (GRCm39) |
H650Q |
probably damaging |
Het |
| Mief1 |
C |
A |
15: 80,132,454 (GRCm39) |
P112Q |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,661,856 (GRCm39) |
E472G |
probably benign |
Het |
| Nap1l1 |
T |
A |
10: 111,328,741 (GRCm39) |
Y223* |
probably null |
Het |
| Nfix |
A |
T |
8: 85,453,119 (GRCm39) |
W312R |
probably damaging |
Het |
| Nfkbie |
A |
T |
17: 45,869,510 (GRCm39) |
N155I |
probably damaging |
Het |
| Nlgn2 |
A |
T |
11: 69,724,912 (GRCm39) |
M118K |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,173 (GRCm39) |
Y299F |
probably benign |
Het |
| Nnt |
T |
C |
13: 119,494,072 (GRCm39) |
I556V |
possibly damaging |
Het |
| Oasl2 |
A |
T |
5: 115,037,857 (GRCm39) |
I85F |
possibly damaging |
Het |
| Ogg1 |
A |
C |
6: 113,305,393 (GRCm39) |
T69P |
probably damaging |
Het |
| Olfml2a |
G |
T |
2: 38,847,733 (GRCm39) |
V431L |
probably damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,102 (GRCm39) |
H228R |
possibly damaging |
Het |
| Or5p79 |
A |
T |
7: 108,221,711 (GRCm39) |
M231L |
probably benign |
Het |
| Palb2 |
G |
T |
7: 121,723,946 (GRCm39) |
A601E |
probably benign |
Het |
| Pcdhb20 |
G |
A |
18: 37,638,849 (GRCm39) |
M458I |
probably benign |
Het |
| Pde11a |
T |
C |
2: 76,121,585 (GRCm39) |
D332G |
possibly damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,908,964 (GRCm39) |
E347K |
unknown |
Het |
| Pou2af1 |
G |
A |
9: 51,149,525 (GRCm39) |
V206I |
possibly damaging |
Het |
| Prr16 |
A |
G |
18: 51,251,139 (GRCm39) |
D46G |
possibly damaging |
Het |
| Pus1 |
A |
G |
5: 110,928,184 (GRCm39) |
M1T |
probably null |
Het |
| Pygm |
T |
A |
19: 6,441,439 (GRCm39) |
V566D |
possibly damaging |
Het |
| Rb1 |
T |
A |
14: 73,499,954 (GRCm39) |
|
probably benign |
Het |
| Rhoj |
A |
T |
12: 75,446,980 (GRCm39) |
K200* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,328,521 (GRCm39) |
I1985V |
possibly damaging |
Het |
| Septin11 |
G |
T |
5: 93,310,113 (GRCm39) |
M305I |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,653,153 (GRCm39) |
Y383C |
probably damaging |
Het |
| Sfpq |
G |
C |
4: 126,915,404 (GRCm39) |
Q65H |
unknown |
Het |
| Skic8 |
A |
G |
9: 54,635,463 (GRCm39) |
V46A |
probably benign |
Het |
| Stard3nl |
G |
T |
13: 19,554,434 (GRCm39) |
A180E |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,801,066 (GRCm39) |
N1094S |
probably benign |
Het |
| Trf |
C |
T |
9: 103,089,184 (GRCm39) |
A554T |
possibly damaging |
Het |
| Trmt13 |
T |
C |
3: 116,388,476 (GRCm39) |
|
probably benign |
Het |
| Tubb3 |
A |
G |
8: 124,147,658 (GRCm39) |
D197G |
probably damaging |
Het |
| Ube2e3 |
A |
G |
2: 78,749,056 (GRCm39) |
H135R |
probably damaging |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,204 (GRCm39) |
M1L |
possibly damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,677 (GRCm39) |
I91N |
possibly damaging |
Het |
| Vps33b |
A |
G |
7: 79,940,866 (GRCm39) |
Y593C |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,385,885 (GRCm39) |
T622A |
possibly damaging |
Het |
| Wdr3 |
C |
T |
3: 100,047,516 (GRCm39) |
R853Q |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,845,572 (GRCm39) |
T1104A |
probably benign |
Het |
| Yipf1 |
G |
A |
4: 107,201,880 (GRCm39) |
|
probably null |
Het |
| Zbtb17 |
A |
G |
4: 141,193,809 (GRCm39) |
D651G |
probably damaging |
Het |
| Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,344,055 (GRCm39) |
M390K |
probably benign |
Het |
| Zfp462 |
C |
T |
4: 55,011,889 (GRCm39) |
T1285M |
probably damaging |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,655,437 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
|
IGL02483:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,655,830 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,651,597 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,651,959 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,655,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,656,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,654,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,650,487 (GRCm39) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,655,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,655,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,650,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,651,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,651,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,656,146 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,651,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,656,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,651,435 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,650,647 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4091:Vmn2r88
|
UTSW |
14 |
51,652,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,650,746 (GRCm39) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,655,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,655,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,656,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,655,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,650,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,650,796 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4720:Vmn2r88
|
UTSW |
14 |
51,650,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,650,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,648,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,651,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,655,606 (GRCm39) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,652,826 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,651,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,651,426 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,656,100 (GRCm39) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,651,253 (GRCm39) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,655,776 (GRCm39) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,651,712 (GRCm39) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,648,315 (GRCm39) |
splice site |
probably null |
|
|
R7611:Vmn2r88
|
UTSW |
14 |
51,651,454 (GRCm39) |
missense |
|
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,655,446 (GRCm39) |
missense |
|
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,655,906 (GRCm39) |
missense |
|
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7811:Vmn2r88
|
UTSW |
14 |
51,656,160 (GRCm39) |
missense |
|
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7957:Vmn2r88
|
UTSW |
14 |
51,650,589 (GRCm39) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,651,564 (GRCm39) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,650,530 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,651,523 (GRCm39) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,656,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8916:Vmn2r88
|
UTSW |
14 |
51,648,593 (GRCm39) |
missense |
|
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,655,983 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,650,624 (GRCm39) |
missense |
|
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,651,490 (GRCm39) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,648,329 (GRCm39) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,656,197 (GRCm39) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,648,641 (GRCm39) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,651,189 (GRCm39) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,650,584 (GRCm39) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,651,289 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,644 (GRCm39) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,503 (GRCm39) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,650,658 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATGGAATAGATGCTCAACACC -3'
(R):5'- AGGAGACCTGGTTTGGATGTCC -3'
Sequencing Primer
(F):5'- GCCAGCAGATATGGAACA -3'
(R):5'- TGGATGTCCAATGAAGAGCAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation