Incidental Mutation 'R6103:Vmn2r52'
| ID |
485378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r52
|
| Ensembl Gene |
ENSMUSG00000091930 |
| Gene Name |
vomeronasal 2, receptor 52 |
| Synonyms |
EG384534 |
| MMRRC Submission |
044253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10158652-10176286 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10171400 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 171
(P171S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164918]
|
| AlphaFold |
L7N2B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164918
AA Change: P171S
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: P171S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
8.1e-29 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
1.5e-19 |
PFAM |
|
Pfam:7tm_3
|
596 |
833 |
1.1e-55 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 46,119,021 (GRCm38) |
S926P |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,245,881 (GRCm38) |
M2157K |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,913,251 (GRCm38) |
V636A |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,196,267 (GRCm38) |
Y51C |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,222,055 (GRCm38) |
T1568A |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,113,983 (GRCm38) |
S937T |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,454,429 (GRCm38) |
E340G |
probably damaging |
Het |
| Avpr1b |
C |
T |
1: 131,609,417 (GRCm38) |
P90S |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,396,489 (GRCm38) |
H159R |
probably damaging |
Het |
| Carmil3 |
A |
T |
14: 55,505,427 (GRCm38) |
T1185S |
probably benign |
Het |
| Casp2 |
A |
T |
6: 42,279,880 (GRCm38) |
R357S |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 110,018,007 (GRCm38) |
D47G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,698,314 (GRCm38) |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,878,304 (GRCm38) |
Y27C |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,924,576 (GRCm38) |
D1176V |
probably benign |
Het |
| Cpd |
A |
T |
11: 76,799,799 (GRCm38) |
S844T |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 115,111,667 (GRCm38) |
L380P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,825,581 (GRCm38) |
V376A |
probably benign |
Het |
| Enam |
T |
A |
5: 88,502,328 (GRCm38) |
N565K |
probably damaging |
Het |
| Fam110c |
G |
A |
12: 31,074,795 (GRCm38) |
W252* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,149,522 (GRCm38) |
I39N |
probably damaging |
Het |
| Fgb |
T |
C |
3: 83,043,863 (GRCm38) |
D281G |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,549,788 (GRCm38) |
T2048S |
probably benign |
Het |
| Fut8 |
A |
T |
12: 77,331,947 (GRCm38) |
|
probably benign |
Het |
| Glmp |
T |
C |
3: 88,328,031 (GRCm38) |
S238P |
probably benign |
Het |
| Gm35315 |
T |
A |
5: 110,078,271 (GRCm38) |
Y434F |
probably damaging |
Het |
| Gnpnat1 |
A |
G |
14: 45,383,399 (GRCm38) |
F71S |
probably damaging |
Het |
| Gpnmb |
A |
G |
6: 49,042,886 (GRCm38) |
R64G |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,166,204 (GRCm38) |
F275S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,093,126 (GRCm38) |
C1314S |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,489,849 (GRCm38) |
I127T |
possibly damaging |
Het |
| Mmd2 |
A |
G |
5: 142,567,863 (GRCm38) |
|
probably null |
Het |
| Ms4a3 |
A |
T |
19: 11,639,218 (GRCm38) |
V20D |
possibly damaging |
Het |
| Mtres1 |
A |
T |
10: 43,532,920 (GRCm38) |
Y76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,618,743 (GRCm38) |
E272G |
probably damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,108,713 (GRCm38) |
G292S |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,135,743 (GRCm38) |
Y1475N |
possibly damaging |
Het |
| Obp2a |
G |
A |
2: 25,700,151 (GRCm38) |
E21K |
probably damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,841,432 (GRCm38) |
Y120H |
probably damaging |
Het |
| Osbpl10 |
T |
A |
9: 115,061,872 (GRCm38) |
Y109* |
probably null |
Het |
| Plcd1 |
A |
T |
9: 119,072,041 (GRCm38) |
W749R |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,400,706 (GRCm38) |
E718G |
possibly damaging |
Het |
| Rbm4 |
C |
T |
19: 4,787,919 (GRCm38) |
R295H |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,994,649 (GRCm38) |
P44L |
unknown |
Het |
| Setdb2 |
T |
C |
14: 59,409,532 (GRCm38) |
|
probably null |
Het |
| Slc25a18 |
C |
A |
6: 120,789,438 (GRCm38) |
L131I |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,234,465 (GRCm38) |
H221R |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,150,883 (GRCm38) |
W757R |
probably damaging |
Het |
| Tmem183a |
C |
A |
1: 134,348,146 (GRCm38) |
V331L |
probably benign |
Het |
| Try10 |
C |
A |
6: 41,356,550 (GRCm38) |
H76Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,918,255 (GRCm38) |
H4150L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,415,369 (GRCm38) |
T450A |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,541,062 (GRCm38) |
V34D |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,912,085 (GRCm38) |
P125L |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 127,050,576 (GRCm38) |
V71A |
probably benign |
Het |
|
| Other mutations in Vmn2r52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Vmn2r52
|
APN |
7 |
10,169,096 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL00328:Vmn2r52
|
APN |
7 |
10,171,417 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL00980:Vmn2r52
|
APN |
7 |
10,171,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01468:Vmn2r52
|
APN |
7 |
10,158,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01660:Vmn2r52
|
APN |
7 |
10,159,180 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02215:Vmn2r52
|
APN |
7 |
10,171,102 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03030:Vmn2r52
|
APN |
7 |
10,158,872 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL03212:Vmn2r52
|
APN |
7 |
10,159,547 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
FR4589:Vmn2r52
|
UTSW |
7 |
10,159,020 (GRCm38) |
missense |
probably damaging |
0.97 |
|
PIT4283001:Vmn2r52
|
UTSW |
7 |
10,170,829 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0184:Vmn2r52
|
UTSW |
7 |
10,159,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0190:Vmn2r52
|
UTSW |
7 |
10,171,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0240:Vmn2r52
|
UTSW |
7 |
10,159,400 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0240:Vmn2r52
|
UTSW |
7 |
10,159,400 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0257:Vmn2r52
|
UTSW |
7 |
10,171,055 (GRCm38) |
nonsense |
probably null |
|
|
R0310:Vmn2r52
|
UTSW |
7 |
10,159,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1831:Vmn2r52
|
UTSW |
7 |
10,159,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1862:Vmn2r52
|
UTSW |
7 |
10,173,406 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2484:Vmn2r52
|
UTSW |
7 |
10,169,131 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2510:Vmn2r52
|
UTSW |
7 |
10,170,868 (GRCm38) |
missense |
probably benign |
|
|
R3625:Vmn2r52
|
UTSW |
7 |
10,159,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3803:Vmn2r52
|
UTSW |
7 |
10,173,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4013:Vmn2r52
|
UTSW |
7 |
10,170,676 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4283:Vmn2r52
|
UTSW |
7 |
10,170,638 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4324:Vmn2r52
|
UTSW |
7 |
10,171,013 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4578:Vmn2r52
|
UTSW |
7 |
10,170,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4806:Vmn2r52
|
UTSW |
7 |
10,159,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5083:Vmn2r52
|
UTSW |
7 |
10,159,465 (GRCm38) |
nonsense |
probably null |
|
|
R5249:Vmn2r52
|
UTSW |
7 |
10,176,270 (GRCm38) |
missense |
probably benign |
|
|
R5306:Vmn2r52
|
UTSW |
7 |
10,170,745 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5332:Vmn2r52
|
UTSW |
7 |
10,169,125 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5617:Vmn2r52
|
UTSW |
7 |
10,170,934 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5643:Vmn2r52
|
UTSW |
7 |
10,171,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5749:Vmn2r52
|
UTSW |
7 |
10,159,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5763:Vmn2r52
|
UTSW |
7 |
10,171,304 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6148:Vmn2r52
|
UTSW |
7 |
10,171,163 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6356:Vmn2r52
|
UTSW |
7 |
10,168,999 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6412:Vmn2r52
|
UTSW |
7 |
10,171,009 (GRCm38) |
missense |
probably benign |
|
|
R6657:Vmn2r52
|
UTSW |
7 |
10,159,163 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6997:Vmn2r52
|
UTSW |
7 |
10,169,071 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7395:Vmn2r52
|
UTSW |
7 |
10,170,817 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7621:Vmn2r52
|
UTSW |
7 |
10,173,347 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7691:Vmn2r52
|
UTSW |
7 |
10,159,182 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7852:Vmn2r52
|
UTSW |
7 |
10,158,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7908:Vmn2r52
|
UTSW |
7 |
10,162,950 (GRCm38) |
missense |
probably benign |
|
|
R7909:Vmn2r52
|
UTSW |
7 |
10,162,950 (GRCm38) |
missense |
probably benign |
|
|
R7912:Vmn2r52
|
UTSW |
7 |
10,162,950 (GRCm38) |
missense |
probably benign |
|
|
R7913:Vmn2r52
|
UTSW |
7 |
10,162,950 (GRCm38) |
missense |
probably benign |
|
|
R7938:Vmn2r52
|
UTSW |
7 |
10,159,373 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8884:Vmn2r52
|
UTSW |
7 |
10,158,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9003:Vmn2r52
|
UTSW |
7 |
10,171,254 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9140:Vmn2r52
|
UTSW |
7 |
10,158,716 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9141:Vmn2r52
|
UTSW |
7 |
10,171,404 (GRCm38) |
nonsense |
probably null |
|
|
R9500:Vmn2r52
|
UTSW |
7 |
10,171,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9562:Vmn2r52
|
UTSW |
7 |
10,159,549 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9564:Vmn2r52
|
UTSW |
7 |
10,171,255 (GRCm38) |
missense |
probably benign |
0.15 |
|
R9565:Vmn2r52
|
UTSW |
7 |
10,159,549 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9597:Vmn2r52
|
UTSW |
7 |
10,170,792 (GRCm38) |
nonsense |
probably null |
|
|
R9743:Vmn2r52
|
UTSW |
7 |
10,170,679 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
Z1176:Vmn2r52
|
UTSW |
7 |
10,171,200 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1177:Vmn2r52
|
UTSW |
7 |
10,169,190 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATATGTGAAAATGTGAGAGATTCC -3'
(R):5'- GTTAAGGAGCTAAGCTTTCAGTTAC -3'
Sequencing Primer
(F):5'- CAAAGGCAAAGCAAATTTCCTTG -3'
(R):5'- GGAGCTAAGCTTTCAGTTACTATTAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation