Incidental Mutation 'R2120:Vmn2r88'
ID |
231407 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r88
|
Ensembl Gene |
ENSMUSG00000000606 |
Gene Name |
vomeronasal 2, receptor 88 |
Synonyms |
V2r13, V2r3 |
MMRRC Submission |
040124-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R2120 (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 51650665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 126
(H126L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154310
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
AlphaFold |
L7N1W8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022438
AA Change: H126L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000022438 Gene: ENSMUSG00000000606 AA Change: H126L
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 |
unknown
Transcript: ENSMUST00000159674
AA Change: H126L
|
SMART Domains |
Protein: ENSMUSP00000125126 Gene: ENSMUSG00000000606 AA Change: H126L
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 |
unknown
Transcript: ENSMUST00000163019
AA Change: H101L
|
SMART Domains |
Protein: ENSMUSP00000124837 Gene: ENSMUSG00000000606 AA Change: H101L
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228139
AA Change: H126L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (86/86) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,259,013 (GRCm39) |
|
probably benign |
Het |
Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
Actrt2 |
C |
T |
4: 154,751,551 (GRCm39) |
R195Q |
probably benign |
Het |
Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
Ankrd65 |
A |
G |
4: 155,876,530 (GRCm39) |
T239A |
probably benign |
Het |
Ano7 |
G |
T |
1: 93,329,855 (GRCm39) |
|
probably benign |
Het |
Apc |
A |
T |
18: 34,409,654 (GRCm39) |
E198V |
probably damaging |
Het |
Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,495,457 (GRCm39) |
V583E |
probably damaging |
Het |
Bicral |
C |
T |
17: 47,135,741 (GRCm39) |
A490T |
probably benign |
Het |
C1rl |
C |
T |
6: 124,485,672 (GRCm39) |
P348S |
probably damaging |
Het |
Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
Cx3cr1 |
T |
A |
9: 119,880,749 (GRCm39) |
T218S |
probably damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
E2f4 |
A |
G |
8: 106,026,973 (GRCm39) |
Y179C |
probably damaging |
Het |
Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
Endod1 |
T |
C |
9: 14,268,949 (GRCm39) |
N179D |
probably benign |
Het |
Epc2 |
C |
T |
2: 49,437,621 (GRCm39) |
|
probably benign |
Het |
Ets2 |
G |
T |
16: 95,519,977 (GRCm39) |
R401L |
probably benign |
Het |
Fgd4 |
C |
T |
16: 16,243,692 (GRCm39) |
C614Y |
probably benign |
Het |
Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,342,086 (GRCm39) |
T1460S |
probably benign |
Het |
H2-M1 |
T |
G |
17: 36,980,929 (GRCm39) |
T336P |
possibly damaging |
Het |
Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
Ipo7 |
G |
T |
7: 109,648,838 (GRCm39) |
D704Y |
probably damaging |
Het |
Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
Jarid2 |
G |
T |
13: 45,059,812 (GRCm39) |
M681I |
probably benign |
Het |
Kif4-ps |
T |
C |
12: 101,113,956 (GRCm39) |
L695P |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,737,410 (GRCm39) |
|
probably benign |
Het |
Krt25 |
T |
C |
11: 99,212,023 (GRCm39) |
T205A |
probably benign |
Het |
Lif |
T |
C |
11: 4,219,051 (GRCm39) |
V110A |
possibly damaging |
Het |
Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
Ltbr |
A |
G |
6: 125,286,440 (GRCm39) |
S249P |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,819,653 (GRCm39) |
|
probably benign |
Het |
Med16 |
A |
T |
10: 79,738,916 (GRCm39) |
M290K |
possibly damaging |
Het |
Mov10l1 |
C |
A |
15: 88,891,830 (GRCm39) |
Q562K |
probably benign |
Het |
Msantd2 |
C |
T |
9: 37,434,227 (GRCm39) |
R357W |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
Mtmr6 |
T |
C |
14: 60,534,108 (GRCm39) |
F449L |
probably damaging |
Het |
Myt1l |
A |
T |
12: 29,833,618 (GRCm39) |
|
probably null |
Het |
Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
Or11g27 |
T |
C |
14: 50,771,403 (GRCm39) |
I178T |
probably damaging |
Het |
Or4k36 |
A |
G |
2: 111,145,844 (GRCm39) |
T7A |
probably benign |
Het |
Or6d13 |
A |
T |
6: 116,517,416 (GRCm39) |
M1L |
probably null |
Het |
Or8k22 |
G |
A |
2: 86,163,689 (GRCm39) |
R4C |
probably benign |
Het |
Patj |
T |
A |
4: 98,344,462 (GRCm39) |
D591E |
probably benign |
Het |
Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
Pitpnm2 |
G |
A |
5: 124,265,332 (GRCm39) |
P757L |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,603,584 (GRCm39) |
T662A |
probably benign |
Het |
Podn |
C |
T |
4: 107,880,558 (GRCm39) |
A31T |
probably damaging |
Het |
Prss37 |
G |
A |
6: 40,492,294 (GRCm39) |
R186* |
probably null |
Het |
Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
Rab3gap2 |
A |
T |
1: 184,993,564 (GRCm39) |
D782V |
possibly damaging |
Het |
Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
Reln |
G |
A |
5: 22,174,083 (GRCm39) |
H2007Y |
probably damaging |
Het |
Rhbdl2 |
T |
A |
4: 123,718,712 (GRCm39) |
I222K |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,865,582 (GRCm39) |
S582P |
probably damaging |
Het |
Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
Sars1 |
T |
C |
3: 108,341,472 (GRCm39) |
I114V |
probably benign |
Het |
Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
Sec14l1 |
C |
T |
11: 117,039,358 (GRCm39) |
|
probably benign |
Het |
Serpinb8 |
A |
G |
1: 107,533,617 (GRCm39) |
E224G |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Slco6c1 |
C |
T |
1: 96,993,808 (GRCm39) |
R645H |
possibly damaging |
Het |
Srgn |
T |
A |
10: 62,343,413 (GRCm39) |
|
probably benign |
Het |
Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Tada3 |
T |
C |
6: 113,347,976 (GRCm39) |
I263V |
possibly damaging |
Het |
Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
Tas2r115 |
T |
A |
6: 132,714,470 (GRCm39) |
R160S |
possibly damaging |
Het |
Trak1 |
T |
A |
9: 121,302,063 (GRCm39) |
*940R |
probably null |
Het |
Trp53bp2 |
A |
G |
1: 182,269,204 (GRCm39) |
M223V |
probably benign |
Het |
Ttc21b |
C |
T |
2: 66,057,098 (GRCm39) |
V625I |
probably benign |
Het |
Txnrd1 |
T |
A |
10: 82,723,067 (GRCm39) |
C421S |
possibly damaging |
Het |
Unc45a |
T |
C |
7: 79,989,846 (GRCm39) |
T8A |
probably benign |
Het |
Usp6nl |
T |
A |
2: 6,445,748 (GRCm39) |
V552E |
probably damaging |
Het |
Vmn2r115 |
T |
G |
17: 23,578,297 (GRCm39) |
L590R |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,826,616 (GRCm39) |
D1419G |
possibly damaging |
Het |
Vwa3a |
A |
G |
7: 120,391,641 (GRCm39) |
T776A |
probably benign |
Het |
Zfp580 |
T |
C |
7: 5,056,008 (GRCm39) |
Y123H |
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 |
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 |
R4609:Vmn2r88
|
UTSW |
14 |
51,655,531 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- CACTATGCCTTCTTTTAGAATTGCAGC -3'
(R):5'- GTAGCAGCACACTCACAAATGTG -3'
Sequencing Primer
(F):5'- GCCTTCTTTTAGAATTGCAGCAAGTG -3'
(R):5'- GCACACTCACAAATGTGTTCTC -3'
|
Posted On |
2014-09-18 |