Incidental Mutation 'R8002:Vmn2r76'
| ID |
616410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r76
|
| Ensembl Gene |
ENSMUSG00000091239 |
| Gene Name |
vomeronasal 2, receptor 76 |
| Synonyms |
|
| MMRRC Submission |
046042-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R8002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
85874414-85895409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85879271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 343
(N343S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165771]
|
| AlphaFold |
E9Q3F5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165771
AA Change: N343S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000127309
Gene: ENSMUSG00000091239
AA Change: N343S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
C |
T |
7: 119,172,480 (GRCm39) |
R133C |
possibly damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,683 (GRCm39) |
E220G |
probably benign |
Het |
| Alx3 |
T |
A |
3: 107,508,055 (GRCm39) |
L188* |
probably null |
Het |
| Arhgef2 |
A |
T |
3: 88,554,117 (GRCm39) |
I969F |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,646,823 (GRCm39) |
V350A |
probably benign |
Het |
| Atp1a3 |
C |
A |
7: 24,700,096 (GRCm39) |
G88V |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,741,609 (GRCm39) |
T360A |
probably benign |
Het |
| Casp1 |
C |
A |
9: 5,303,164 (GRCm39) |
T206K |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,311,656 (GRCm39) |
E214G |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,525,343 (GRCm39) |
E477G |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,311,285 (GRCm39) |
R1409S |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,832,241 (GRCm39) |
D977G |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,528,232 (GRCm39) |
F342I |
probably damaging |
Het |
| Crot |
A |
C |
5: 9,043,599 (GRCm39) |
S8A |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,881 (GRCm39) |
H67R |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,020,679 (GRCm39) |
L1230H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,035,558 (GRCm39) |
D24N |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,384,716 (GRCm39) |
T282A |
possibly damaging |
Het |
| Gm13199 |
A |
G |
2: 5,867,458 (GRCm39) |
S13P |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,276,130 (GRCm39) |
D1139V |
probably benign |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
| Jtb |
T |
C |
3: 90,141,251 (GRCm39) |
S76P |
probably benign |
Het |
| Klk1b27 |
T |
A |
7: 43,705,445 (GRCm39) |
D172E |
probably benign |
Het |
| Lpcat4 |
G |
A |
2: 112,074,699 (GRCm39) |
V307I |
probably benign |
Het |
| Ltn1 |
A |
C |
16: 87,212,835 (GRCm39) |
S575R |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,723,878 (GRCm39) |
T287A |
probably benign |
Het |
| Marco |
T |
G |
1: 120,422,509 (GRCm39) |
I58L |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,655 (GRCm39) |
|
probably null |
Het |
| Or11h7 |
A |
T |
14: 50,891,314 (GRCm39) |
I207F |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,537,954 (GRCm39) |
T1215I |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,769,249 (GRCm39) |
C27S |
probably benign |
Het |
| Pla2g10 |
A |
T |
16: 13,542,912 (GRCm39) |
M125K |
unknown |
Het |
| Rfx4 |
A |
C |
10: 84,676,721 (GRCm39) |
M204L |
probably damaging |
Het |
| Septin1 |
T |
C |
7: 126,815,074 (GRCm39) |
D209G |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,597,969 (GRCm39) |
D159G |
probably benign |
Het |
| Sptbn4 |
C |
A |
7: 27,117,417 (GRCm39) |
S444I |
possibly damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Stard6 |
T |
A |
18: 70,633,597 (GRCm39) |
D201E |
possibly damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,102 (GRCm39) |
T309A |
probably damaging |
Het |
| Tdrd6 |
C |
A |
17: 43,940,710 (GRCm39) |
A113S |
probably damaging |
Het |
| Tigd2 |
T |
G |
6: 59,187,494 (GRCm39) |
N120K |
probably damaging |
Het |
| Tomm70a |
A |
G |
16: 56,957,097 (GRCm39) |
N224S |
probably damaging |
Het |
| Tspo |
T |
C |
15: 83,455,640 (GRCm39) |
V9A |
probably benign |
Het |
| Vmn1r21 |
T |
A |
6: 57,821,199 (GRCm39) |
I82L |
probably benign |
Het |
| Vmn2r103 |
T |
A |
17: 20,019,511 (GRCm39) |
C532S |
probably damaging |
Het |
| Wdr62 |
T |
C |
7: 29,951,785 (GRCm39) |
K665E |
probably damaging |
Het |
| Xpc |
T |
A |
6: 91,469,287 (GRCm39) |
N820I |
probably damaging |
Het |
| Zfp418 |
A |
G |
7: 7,184,873 (GRCm39) |
T279A |
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 |
|
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 |
|
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 |
|
|
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'- TGGGCTACAGCATACACAGC -3'
(R):5'- GGAGACAAAGATTCTCTTCTACAAG -3'
Sequencing Primer
(F):5'- CAGCATACACAGCATTGTATAGG -3'
(R):5'- CTACAAGTGATTTTTAGACTGTGGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation