Incidental Mutation 'R2421:Vmn2r12'
| ID |
249282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r12
|
| Ensembl Gene |
ENSMUSG00000090688 |
| Gene Name |
vomeronasal 2, receptor 12 |
| Synonyms |
Gm6769 |
| MMRRC Submission |
040383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2421 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109233715-109245730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109234398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 605
(Y605H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095922]
|
| AlphaFold |
L7N217 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095922
AA Change: Y605H
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: Y605H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
466 |
8.8e-30 |
PFAM |
|
Pfam:NCD3G
|
505 |
559 |
1.7e-18 |
PFAM |
|
Pfam:7tm_3
|
591 |
827 |
3.9e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (81/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,831,034 (GRCm39) |
S1007P |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,386,166 (GRCm39) |
L1118Q |
probably damaging |
Het |
| Adgre4 |
A |
G |
17: 56,085,872 (GRCm39) |
E57G |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,687 (GRCm39) |
S1036G |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,818,034 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,646,722 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,793,646 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,856,585 (GRCm39) |
V874D |
probably damaging |
Het |
| Arhgap39 |
T |
A |
15: 76,609,346 (GRCm39) |
T1025S |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,912,302 (GRCm39) |
C519S |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,416,225 (GRCm39) |
V1512M |
possibly damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,168,643 (GRCm39) |
T449A |
probably benign |
Het |
| Atxn2 |
A |
T |
5: 121,940,142 (GRCm39) |
|
probably null |
Het |
| Birc6 |
T |
A |
17: 74,967,609 (GRCm39) |
L301Q |
probably damaging |
Het |
| Camk2d |
A |
G |
3: 126,574,064 (GRCm39) |
D157G |
probably damaging |
Het |
| Ccdc122 |
T |
C |
14: 77,329,103 (GRCm39) |
|
probably benign |
Het |
| Ccdc137 |
G |
A |
11: 120,353,090 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
A |
C |
5: 108,376,454 (GRCm39) |
E1298D |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,647,996 (GRCm39) |
|
probably benign |
Het |
| Coq10b |
G |
A |
1: 55,092,136 (GRCm39) |
A35T |
probably benign |
Het |
| Cracdl |
C |
A |
1: 37,652,556 (GRCm39) |
V1084L |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,927,652 (GRCm39) |
I47V |
probably benign |
Het |
| Csgalnact1 |
A |
T |
8: 68,914,160 (GRCm39) |
I15N |
probably benign |
Het |
| Dcp1b |
A |
G |
6: 119,192,227 (GRCm39) |
Q381R |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,462,021 (GRCm39) |
S127P |
probably benign |
Het |
| Dnal1 |
C |
T |
12: 84,183,480 (GRCm39) |
Q80* |
probably null |
Het |
| Dtd2 |
A |
G |
12: 52,046,638 (GRCm39) |
V67A |
probably benign |
Het |
| Gart |
A |
G |
16: 91,439,928 (GRCm39) |
|
probably null |
Het |
| Gm17421 |
T |
A |
12: 113,333,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6327 |
T |
C |
16: 12,577,958 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
T |
C |
13: 50,054,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr107 |
G |
A |
2: 31,075,541 (GRCm39) |
G351S |
probably damaging |
Het |
| H2-M10.5 |
A |
G |
17: 37,085,891 (GRCm39) |
I308V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,877 (GRCm39) |
L159Q |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,855,699 (GRCm39) |
E704G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,057,548 (GRCm39) |
M541L |
probably benign |
Het |
| Lenep |
G |
A |
3: 89,309,881 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
C |
2: 40,772,145 (GRCm39) |
|
probably benign |
Het |
| Ly6g6e |
G |
A |
17: 35,297,122 (GRCm39) |
R121Q |
probably benign |
Het |
| Lyn |
C |
T |
4: 3,748,787 (GRCm39) |
A255V |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,723,621 (GRCm39) |
I2519K |
probably damaging |
Het |
| Mmaa |
T |
A |
8: 80,008,061 (GRCm39) |
R59W |
probably damaging |
Het |
| Ms4a4b |
A |
G |
19: 11,432,061 (GRCm39) |
I61V |
possibly damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,486,218 (GRCm39) |
E298G |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,824 (GRCm39) |
L81P |
possibly damaging |
Het |
| Or13a1 |
T |
A |
6: 116,470,674 (GRCm39) |
C35S |
probably benign |
Het |
| Or4c114 |
T |
C |
2: 88,905,336 (GRCm39) |
Y33C |
possibly damaging |
Het |
| Or5k15 |
T |
C |
16: 58,710,328 (GRCm39) |
E85G |
probably benign |
Het |
| Or5k8 |
T |
C |
16: 58,644,709 (GRCm39) |
D121G |
probably damaging |
Het |
| Pef1 |
C |
A |
4: 130,021,110 (GRCm39) |
C221* |
probably null |
Het |
| Plekhg1 |
G |
A |
10: 3,908,048 (GRCm39) |
M988I |
probably benign |
Het |
| Pnliprp1 |
T |
A |
19: 58,732,517 (GRCm39) |
I460N |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,255,138 (GRCm39) |
N239S |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,912 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
A |
15: 10,319,343 (GRCm39) |
W91R |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,478,856 (GRCm39) |
|
probably null |
Het |
| Ptprt |
T |
A |
2: 162,119,960 (GRCm39) |
|
probably benign |
Het |
| Pttg1ip2 |
T |
C |
5: 5,505,912 (GRCm39) |
Y123C |
probably benign |
Het |
| Rbm12b2 |
T |
C |
4: 12,095,127 (GRCm39) |
F662S |
possibly damaging |
Het |
| Rgs6 |
C |
A |
12: 83,163,057 (GRCm39) |
T421K |
possibly damaging |
Het |
| Ryr2 |
T |
G |
13: 11,606,123 (GRCm39) |
Q4486H |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,556,646 (GRCm39) |
|
probably benign |
Het |
| Smc1a |
A |
G |
X: 150,830,971 (GRCm39) |
|
probably benign |
Het |
| Synrg |
A |
G |
11: 83,900,050 (GRCm39) |
E674G |
probably damaging |
Het |
| Syt9 |
G |
A |
7: 107,035,988 (GRCm39) |
R335K |
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,868,415 (GRCm39) |
N322S |
probably damaging |
Het |
| Tfb2m |
C |
A |
1: 179,361,231 (GRCm39) |
W252C |
possibly damaging |
Het |
| Tmub2 |
T |
A |
11: 102,178,581 (GRCm39) |
D161E |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Tyw1 |
A |
T |
5: 130,298,101 (GRCm39) |
H214L |
probably damaging |
Het |
| Tyw5 |
A |
G |
1: 57,435,907 (GRCm39) |
I82T |
possibly damaging |
Het |
| Uba6 |
A |
G |
5: 86,280,475 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,838,829 (GRCm39) |
Y674C |
probably damaging |
Het |
| Vangl2 |
T |
C |
1: 171,835,526 (GRCm39) |
Y382C |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,097 (GRCm39) |
R242S |
probably benign |
Het |
| Vps13a |
T |
G |
19: 16,737,035 (GRCm39) |
I101L |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,415,385 (GRCm39) |
F792I |
probably damaging |
Het |
| Wdhd1 |
G |
A |
14: 47,496,041 (GRCm39) |
H608Y |
probably benign |
Het |
| Wdr48 |
T |
A |
9: 119,731,470 (GRCm39) |
I56K |
probably damaging |
Het |
| Xpo4 |
T |
C |
14: 57,866,960 (GRCm39) |
D194G |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,785,110 (GRCm39) |
M479T |
possibly damaging |
Het |
| Zfp821 |
T |
A |
8: 110,436,165 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
A |
G |
14: 20,769,525 (GRCm39) |
Y1237C |
probably damaging |
Het |
|
| Other mutations in Vmn2r12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Vmn2r12
|
APN |
5 |
109,245,541 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01096:Vmn2r12
|
APN |
5 |
109,234,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Vmn2r12
|
APN |
5 |
109,239,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Vmn2r12
|
APN |
5 |
109,240,893 (GRCm39) |
nonsense |
probably null |
|
|
IGL01762:Vmn2r12
|
APN |
5 |
109,234,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01860:Vmn2r12
|
APN |
5 |
109,240,025 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02269:Vmn2r12
|
APN |
5 |
109,234,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Vmn2r12
|
APN |
5 |
109,233,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Vmn2r12
|
APN |
5 |
109,238,351 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03265:Vmn2r12
|
APN |
5 |
109,239,936 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0396:Vmn2r12
|
UTSW |
5 |
109,240,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0497:Vmn2r12
|
UTSW |
5 |
109,239,755 (GRCm39) |
nonsense |
probably null |
|
|
R0529:Vmn2r12
|
UTSW |
5 |
109,240,714 (GRCm39) |
missense |
probably benign |
|
|
R0715:Vmn2r12
|
UTSW |
5 |
109,238,373 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0742:Vmn2r12
|
UTSW |
5 |
109,234,281 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0894:Vmn2r12
|
UTSW |
5 |
109,235,716 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1173:Vmn2r12
|
UTSW |
5 |
109,240,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1174:Vmn2r12
|
UTSW |
5 |
109,240,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1259:Vmn2r12
|
UTSW |
5 |
109,239,763 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1349:Vmn2r12
|
UTSW |
5 |
109,234,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1388:Vmn2r12
|
UTSW |
5 |
109,240,840 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1549:Vmn2r12
|
UTSW |
5 |
109,240,696 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1766:Vmn2r12
|
UTSW |
5 |
109,239,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Vmn2r12
|
UTSW |
5 |
109,239,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1885:Vmn2r12
|
UTSW |
5 |
109,239,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2159:Vmn2r12
|
UTSW |
5 |
109,239,340 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2420:Vmn2r12
|
UTSW |
5 |
109,234,398 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2422:Vmn2r12
|
UTSW |
5 |
109,234,398 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2937:Vmn2r12
|
UTSW |
5 |
109,239,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Vmn2r12
|
UTSW |
5 |
109,239,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Vmn2r12
|
UTSW |
5 |
109,238,370 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4061:Vmn2r12
|
UTSW |
5 |
109,240,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4063:Vmn2r12
|
UTSW |
5 |
109,240,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4090:Vmn2r12
|
UTSW |
5 |
109,239,412 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4297:Vmn2r12
|
UTSW |
5 |
109,239,830 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4298:Vmn2r12
|
UTSW |
5 |
109,239,830 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4299:Vmn2r12
|
UTSW |
5 |
109,239,830 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4304:Vmn2r12
|
UTSW |
5 |
109,233,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4306:Vmn2r12
|
UTSW |
5 |
109,233,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4307:Vmn2r12
|
UTSW |
5 |
109,233,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Vmn2r12
|
UTSW |
5 |
109,233,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Vmn2r12
|
UTSW |
5 |
109,234,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Vmn2r12
|
UTSW |
5 |
109,234,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4900:Vmn2r12
|
UTSW |
5 |
109,240,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4929:Vmn2r12
|
UTSW |
5 |
109,239,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Vmn2r12
|
UTSW |
5 |
109,239,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Vmn2r12
|
UTSW |
5 |
109,238,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5431:Vmn2r12
|
UTSW |
5 |
109,239,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5527:Vmn2r12
|
UTSW |
5 |
109,234,483 (GRCm39) |
nonsense |
probably null |
|
|
R5639:Vmn2r12
|
UTSW |
5 |
109,240,666 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5753:Vmn2r12
|
UTSW |
5 |
109,239,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5797:Vmn2r12
|
UTSW |
5 |
109,233,736 (GRCm39) |
nonsense |
probably null |
|
|
R6142:Vmn2r12
|
UTSW |
5 |
109,240,763 (GRCm39) |
missense |
probably benign |
|
|
R6162:Vmn2r12
|
UTSW |
5 |
109,234,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6176:Vmn2r12
|
UTSW |
5 |
109,233,866 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6853:Vmn2r12
|
UTSW |
5 |
109,240,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Vmn2r12
|
UTSW |
5 |
109,245,655 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7341:Vmn2r12
|
UTSW |
5 |
109,239,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7341:Vmn2r12
|
UTSW |
5 |
109,234,113 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7383:Vmn2r12
|
UTSW |
5 |
109,240,684 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7740:Vmn2r12
|
UTSW |
5 |
109,239,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Vmn2r12
|
UTSW |
5 |
109,233,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7861:Vmn2r12
|
UTSW |
5 |
109,235,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Vmn2r12
|
UTSW |
5 |
109,234,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8128:Vmn2r12
|
UTSW |
5 |
109,239,747 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8175:Vmn2r12
|
UTSW |
5 |
109,238,349 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8234:Vmn2r12
|
UTSW |
5 |
109,234,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8771:Vmn2r12
|
UTSW |
5 |
109,239,952 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8947:Vmn2r12
|
UTSW |
5 |
109,234,522 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8991:Vmn2r12
|
UTSW |
5 |
109,234,033 (GRCm39) |
nonsense |
probably null |
|
|
R9116:Vmn2r12
|
UTSW |
5 |
109,233,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Vmn2r12
|
UTSW |
5 |
109,240,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9153:Vmn2r12
|
UTSW |
5 |
109,234,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Vmn2r12
|
UTSW |
5 |
109,234,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9375:Vmn2r12
|
UTSW |
5 |
109,233,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Vmn2r12
|
UTSW |
5 |
109,239,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9587:Vmn2r12
|
UTSW |
5 |
109,239,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Vmn2r12
|
UTSW |
5 |
109,240,646 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Vmn2r12
|
UTSW |
5 |
109,239,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCCAGGAGTAGTGAGCTTG -3'
(R):5'- ACAGTGTGTGAGGTGTCCAG -3'
Sequencing Primer
(F):5'- CCATGAGCACAGTTATTGTTTTAGCC -3'
(R):5'- GTGTCCAGATGATAAGTATGCCAAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation