Incidental Mutation 'R2877:Vmn2r76'
| ID |
260607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r76
|
| Ensembl Gene |
ENSMUSG00000091239 |
| Gene Name |
vomeronasal 2, receptor 76 |
| Synonyms |
|
| MMRRC Submission |
040465-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R2877 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85874414-85895409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85875201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 592
(C592F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165771]
|
| AlphaFold |
E9Q3F5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165771
AA Change: C592F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127309
Gene: ENSMUSG00000091239
AA Change: C592F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
78 |
470 |
1.2e-29 |
PFAM |
|
low complexity region
|
476 |
489 |
N/A |
INTRINSIC |
|
Pfam:NCD3G
|
513 |
565 |
3.7e-22 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
1.4e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (66/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
C |
5: 109,886,811 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,241,889 (GRCm39) |
L1251F |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,689,755 (GRCm39) |
M384K |
probably damaging |
Het |
| Adss1 |
A |
C |
12: 112,600,623 (GRCm39) |
K197N |
probably damaging |
Het |
| Alg11 |
A |
G |
8: 22,555,374 (GRCm39) |
N170D |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,608,559 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
T |
C |
5: 122,566,219 (GRCm39) |
Y43H |
probably benign |
Het |
| Anxa10 |
T |
A |
8: 62,513,373 (GRCm39) |
I255F |
probably damaging |
Het |
| Atg2b |
A |
T |
12: 105,630,268 (GRCm39) |
Y374* |
probably null |
Het |
| Axl |
T |
A |
7: 25,465,949 (GRCm39) |
M563L |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,422,055 (GRCm39) |
E1108G |
probably damaging |
Het |
| Casp1 |
T |
C |
9: 5,303,110 (GRCm39) |
M188T |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,251,998 (GRCm39) |
C87* |
probably null |
Het |
| Col6a3 |
G |
A |
1: 90,703,321 (GRCm39) |
T2475I |
unknown |
Het |
| Creb3l4 |
A |
T |
3: 90,149,615 (GRCm39) |
S83R |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,011,612 (GRCm39) |
E278K |
possibly damaging |
Het |
| Dync1li2 |
A |
C |
8: 105,156,047 (GRCm39) |
Y265D |
probably damaging |
Het |
| Eif3f |
G |
A |
7: 108,534,019 (GRCm39) |
|
probably null |
Het |
| Eipr1 |
C |
T |
12: 28,810,091 (GRCm39) |
T22I |
possibly damaging |
Het |
| Fbxo48 |
A |
G |
11: 16,903,382 (GRCm39) |
K3E |
possibly damaging |
Het |
| Fbxw13 |
A |
G |
9: 109,010,534 (GRCm39) |
F368S |
probably damaging |
Het |
| Fbxw19 |
A |
T |
9: 109,315,038 (GRCm39) |
W175R |
probably damaging |
Het |
| Fibcd1 |
G |
A |
2: 31,728,678 (GRCm39) |
P60S |
probably benign |
Het |
| Foxa3 |
A |
T |
7: 18,748,805 (GRCm39) |
M107K |
probably benign |
Het |
| Foxj2 |
G |
A |
6: 122,819,791 (GRCm39) |
D560N |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,289,757 (GRCm39) |
R181G |
possibly damaging |
Het |
| Gpr25 |
C |
T |
1: 136,188,553 (GRCm39) |
G20D |
possibly damaging |
Het |
| Grin1 |
A |
G |
2: 25,187,641 (GRCm39) |
V594A |
probably damaging |
Het |
| Itpripl1 |
A |
G |
2: 126,983,534 (GRCm39) |
V196A |
probably benign |
Het |
| Kcns1 |
A |
G |
2: 164,006,682 (GRCm39) |
I427T |
probably damaging |
Het |
| Kiz |
T |
C |
2: 146,731,476 (GRCm39) |
V322A |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,777,200 (GRCm39) |
|
noncoding transcript |
Het |
| Naa16 |
A |
G |
14: 79,580,738 (GRCm39) |
M592T |
probably benign |
Het |
| Naa80 |
A |
T |
9: 107,460,367 (GRCm39) |
E87D |
possibly damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,955,783 (GRCm39) |
|
probably null |
Het |
| Nebl |
C |
A |
2: 17,439,740 (GRCm39) |
D178Y |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,549,988 (GRCm39) |
N99I |
possibly damaging |
Het |
| Nuak1 |
T |
C |
10: 84,211,209 (GRCm39) |
D293G |
possibly damaging |
Het |
| Or5b123 |
A |
T |
19: 13,596,996 (GRCm39) |
I157F |
probably damaging |
Het |
| Or5m9b |
T |
C |
2: 85,905,675 (GRCm39) |
M197T |
possibly damaging |
Het |
| Palb2 |
A |
G |
7: 121,713,652 (GRCm39) |
V877A |
probably damaging |
Het |
| Rassf6 |
C |
T |
5: 90,754,664 (GRCm39) |
V205I |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,159,860 (GRCm39) |
Y398H |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,448,041 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
C |
A |
10: 57,685,181 (GRCm39) |
T317K |
probably damaging |
Het |
| Speer4e1 |
C |
T |
5: 14,987,130 (GRCm39) |
V92M |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,047,605 (GRCm39) |
I4009V |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,154,571 (GRCm39) |
L1474F |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,351,535 (GRCm39) |
E325G |
unknown |
Het |
| Trpc4 |
T |
C |
3: 54,198,761 (GRCm39) |
S562P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,567,409 (GRCm39) |
D27828G |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,089,105 (GRCm39) |
D258G |
probably benign |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,731 (GRCm39) |
H257R |
probably benign |
Het |
| Vmn2r56 |
A |
C |
7: 12,444,954 (GRCm39) |
M433R |
probably benign |
Het |
| Zcchc8 |
C |
T |
5: 123,838,766 (GRCm39) |
V591I |
probably benign |
Het |
| Znhit6 |
G |
C |
3: 145,282,409 (GRCm39) |
G96A |
probably benign |
Het |
|
| Other mutations in Vmn2r76 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Vmn2r76
|
APN |
7 |
85,877,925 (GRCm39) |
missense |
probably benign |
|
|
IGL01374:Vmn2r76
|
APN |
7 |
85,874,857 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01419:Vmn2r76
|
APN |
7 |
85,874,910 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01627:Vmn2r76
|
APN |
7 |
85,874,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Vmn2r76
|
APN |
7 |
85,879,406 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01957:Vmn2r76
|
APN |
7 |
85,877,925 (GRCm39) |
missense |
probably benign |
|
|
IGL02214:Vmn2r76
|
APN |
7 |
85,879,138 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02489:Vmn2r76
|
APN |
7 |
85,878,071 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02543:Vmn2r76
|
APN |
7 |
85,879,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02579:Vmn2r76
|
APN |
7 |
85,877,961 (GRCm39) |
nonsense |
probably null |
|
|
IGL02598:Vmn2r76
|
APN |
7 |
85,877,879 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02720:Vmn2r76
|
APN |
7 |
85,874,914 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02745:Vmn2r76
|
APN |
7 |
85,879,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03393:Vmn2r76
|
APN |
7 |
85,879,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0483:Vmn2r76
|
UTSW |
7 |
85,874,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Vmn2r76
|
UTSW |
7 |
85,877,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0528:Vmn2r76
|
UTSW |
7 |
85,879,506 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0601:Vmn2r76
|
UTSW |
7 |
85,875,323 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0662:Vmn2r76
|
UTSW |
7 |
85,879,578 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0883:Vmn2r76
|
UTSW |
7 |
85,877,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1532:Vmn2r76
|
UTSW |
7 |
85,879,454 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1694:Vmn2r76
|
UTSW |
7 |
85,879,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1696:Vmn2r76
|
UTSW |
7 |
85,880,464 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2135:Vmn2r76
|
UTSW |
7 |
85,880,219 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2151:Vmn2r76
|
UTSW |
7 |
85,879,692 (GRCm39) |
missense |
probably benign |
|
|
R2181:Vmn2r76
|
UTSW |
7 |
85,874,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2268:Vmn2r76
|
UTSW |
7 |
85,879,707 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3155:Vmn2r76
|
UTSW |
7 |
85,874,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Vmn2r76
|
UTSW |
7 |
85,874,763 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3799:Vmn2r76
|
UTSW |
7 |
85,875,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3825:Vmn2r76
|
UTSW |
7 |
85,880,415 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4058:Vmn2r76
|
UTSW |
7 |
85,879,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4237:Vmn2r76
|
UTSW |
7 |
85,879,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4404:Vmn2r76
|
UTSW |
7 |
85,877,511 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4796:Vmn2r76
|
UTSW |
7 |
85,879,652 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4838:Vmn2r76
|
UTSW |
7 |
85,874,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Vmn2r76
|
UTSW |
7 |
85,877,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5268:Vmn2r76
|
UTSW |
7 |
85,875,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Vmn2r76
|
UTSW |
7 |
85,874,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Vmn2r76
|
UTSW |
7 |
85,874,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Vmn2r76
|
UTSW |
7 |
85,875,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Vmn2r76
|
UTSW |
7 |
85,875,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5664:Vmn2r76
|
UTSW |
7 |
85,895,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5818:Vmn2r76
|
UTSW |
7 |
85,879,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6093:Vmn2r76
|
UTSW |
7 |
85,877,469 (GRCm39) |
nonsense |
probably null |
|
|
R6651:Vmn2r76
|
UTSW |
7 |
85,878,059 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6741:Vmn2r76
|
UTSW |
7 |
85,879,560 (GRCm39) |
missense |
probably benign |
|
|
R6750:Vmn2r76
|
UTSW |
7 |
85,875,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Vmn2r76
|
UTSW |
7 |
85,874,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7136:Vmn2r76
|
UTSW |
7 |
85,877,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7524:Vmn2r76
|
UTSW |
7 |
85,879,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7524:Vmn2r76
|
UTSW |
7 |
85,874,577 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7611:Vmn2r76
|
UTSW |
7 |
85,879,388 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7833:Vmn2r76
|
UTSW |
7 |
85,877,892 (GRCm39) |
missense |
probably benign |
|
|
R8002:Vmn2r76
|
UTSW |
7 |
85,879,271 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8021:Vmn2r76
|
UTSW |
7 |
85,874,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8023:Vmn2r76
|
UTSW |
7 |
85,879,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8250:Vmn2r76
|
UTSW |
7 |
85,875,231 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8428:Vmn2r76
|
UTSW |
7 |
85,874,479 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8874:Vmn2r76
|
UTSW |
7 |
85,877,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Vmn2r76
|
UTSW |
7 |
85,879,170 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9357:Vmn2r76
|
UTSW |
7 |
85,880,428 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1176:Vmn2r76
|
UTSW |
7 |
85,895,271 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTGAGAATATGTGGTTGTCCAATG -3'
(R):5'- GCTTCCATAAGAAAGGTCAATTTGG -3'
Sequencing Primer
(F):5'- ATGTGGTTGTCCAATGAATAGCAG -3'
(R):5'- TGTTTCAAGTGCCCAGAT -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation