Incidental Mutation 'R3746:Vmn2r76'
| ID |
309807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r76
|
| Ensembl Gene |
ENSMUSG00000091239 |
| Gene Name |
vomeronasal 2, receptor 76 |
| Synonyms |
|
| MMRRC Submission |
040732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R3746 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85874414-85895409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85874763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 738
(V738A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165771]
|
| AlphaFold |
E9Q3F5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165771
AA Change: V738A
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127309
Gene: ENSMUSG00000091239
AA Change: V738A
| 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: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abcb5 |
T |
C |
12: 118,838,355 (GRCm39) |
D1069G |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,752,537 (GRCm39) |
V345M |
probably damaging |
Het |
| Cln6 |
A |
G |
9: 62,754,284 (GRCm39) |
I109V |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,713,162 (GRCm39) |
F1604Y |
probably benign |
Het |
| Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,651,509 (GRCm39) |
D674V |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
| Eif3g |
G |
A |
9: 20,805,993 (GRCm39) |
R295C |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,206,963 (GRCm39) |
K998E |
probably damaging |
Het |
| Fam171b |
A |
T |
2: 83,709,944 (GRCm39) |
T539S |
probably damaging |
Het |
| Fer1l4 |
G |
T |
2: 155,876,968 (GRCm39) |
H1159N |
probably benign |
Het |
| Fsip1 |
A |
G |
2: 118,063,531 (GRCm39) |
C313R |
probably damaging |
Het |
| Gm37240 |
T |
G |
3: 84,426,919 (GRCm39) |
N168T |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,053,138 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv20-101-2 |
A |
T |
6: 68,451,942 (GRCm39) |
I66L |
possibly damaging |
Het |
| Irf3 |
T |
C |
7: 44,648,297 (GRCm39) |
F54S |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
| Map3k21 |
A |
G |
8: 126,661,839 (GRCm39) |
K479E |
probably damaging |
Het |
| Mpdz |
A |
C |
4: 81,281,384 (GRCm39) |
V609G |
probably damaging |
Het |
| Opcml |
G |
A |
9: 28,812,826 (GRCm39) |
V173M |
possibly damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,770,477 (GRCm39) |
Y985F |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,219,377 (GRCm39) |
F1084L |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,128,524 (GRCm39) |
*4060Q |
probably null |
Het |
| Plekhn1 |
T |
C |
4: 156,310,051 (GRCm39) |
T88A |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
| Rmdn2 |
T |
A |
17: 79,977,981 (GRCm39) |
|
probably null |
Het |
| Selenom |
A |
G |
11: 3,467,132 (GRCm39) |
E137G |
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,570,380 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,400,878 (GRCm39) |
|
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Trim63 |
G |
A |
4: 134,042,665 (GRCm39) |
C44Y |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,934,116 (GRCm39) |
R207G |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
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 |
|
R2877:Vmn2r76
|
UTSW |
7 |
85,875,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3155:Vmn2r76
|
UTSW |
7 |
85,874,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAAGGCCTTTCCATTGGTGC -3'
(R):5'- ACAATTACTGTAGTACTGGCCTTC -3'
Sequencing Primer
(F):5'- CCATTGGTGCTATGATAGACAGG -3'
(R):5'- CAGGTTCACTCTTCCTAGTAAAAGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation