Incidental Mutation 'R9246:Vmn2r112'
| ID |
701329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r112
|
| Ensembl Gene |
ENSMUSG00000094921 |
| Gene Name |
vomeronasal 2, receptor 112 |
| Synonyms |
EG628185 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R9246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22820129-22838114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22824088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 448
(V448I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097381]
|
| AlphaFold |
L7N221 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097381
AA Change: V448I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000094994
Gene: ENSMUSG00000094921
AA Change: V448I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
471 |
2.8e-32 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
5.8e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
6.5e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,279,961 (GRCm39) |
T314I |
probably benign |
Het |
| Abca7 |
G |
A |
10: 79,838,535 (GRCm39) |
S603N |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,786,882 (GRCm39) |
F168L |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,774,289 (GRCm39) |
T764A |
probably benign |
Het |
| Acot4 |
A |
C |
12: 84,090,097 (GRCm39) |
I265L |
probably benign |
Het |
| Adrb2 |
C |
A |
18: 62,312,226 (GRCm39) |
A200S |
probably damaging |
Het |
| Atp2c2 |
G |
T |
8: 120,456,989 (GRCm39) |
R197L |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,156,664 (GRCm39) |
T121A |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,804,016 (GRCm39) |
S2051R |
probably benign |
Het |
| Card10 |
T |
C |
15: 78,673,036 (GRCm39) |
E547G |
possibly damaging |
Het |
| Cbln1 |
A |
T |
8: 88,197,048 (GRCm39) |
I139N |
probably damaging |
Het |
| Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
| Cdh16 |
C |
T |
8: 105,344,602 (GRCm39) |
D510N |
probably benign |
Het |
| Cdh2 |
G |
A |
18: 16,781,654 (GRCm39) |
Q146* |
probably null |
Het |
| Cdhr1 |
T |
G |
14: 36,801,654 (GRCm39) |
K763T |
possibly damaging |
Het |
| Cfl1 |
G |
C |
19: 5,543,634 (GRCm39) |
G204R |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,113,866 (GRCm39) |
V64E |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,430,956 (GRCm39) |
P1649S |
unknown |
Het |
| Ctnna1 |
T |
A |
18: 35,356,562 (GRCm39) |
N410K |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,937,162 (GRCm39) |
F845S |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,571,934 (GRCm39) |
N802K |
possibly damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,949,204 (GRCm39) |
S492P |
probably damaging |
Het |
| Fhit |
C |
A |
14: 10,421,494 (GRCm38) |
|
probably null |
Het |
| Fzd2 |
A |
T |
11: 102,496,749 (GRCm39) |
I398F |
possibly damaging |
Het |
| Gm9195 |
A |
G |
14: 72,710,314 (GRCm39) |
S457P |
probably benign |
Het |
| Gnao1 |
A |
G |
8: 94,676,967 (GRCm39) |
K211E |
|
Het |
| Gzme |
T |
C |
14: 56,356,198 (GRCm39) |
D100G |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,562,319 (GRCm39) |
T249A |
probably benign |
Het |
| Hoxd4 |
G |
A |
2: 74,558,747 (GRCm39) |
C190Y |
possibly damaging |
Het |
| Hr |
T |
A |
14: 70,808,915 (GRCm39) |
V1097E |
probably damaging |
Het |
| Iqca1l |
T |
G |
5: 24,753,969 (GRCm39) |
E430A |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,941,480 (GRCm39) |
K524* |
probably null |
Het |
| Kif18a |
A |
G |
2: 109,163,819 (GRCm39) |
T723A |
probably benign |
Het |
| Kif1a |
A |
G |
1: 93,005,501 (GRCm39) |
V91A |
probably damaging |
Het |
| Krtap19-2 |
AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA |
AAAGCCTCCA |
16: 88,670,859 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,710,959 (GRCm39) |
V1559M |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,565,242 (GRCm39) |
V47A |
possibly damaging |
Het |
| Msto1 |
A |
T |
3: 88,819,411 (GRCm39) |
I160N |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,364,215 (GRCm39) |
Q2509K |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Or1ad8 |
T |
A |
11: 50,897,891 (GRCm39) |
F31I |
probably damaging |
Het |
| Or2ag2b |
C |
T |
7: 106,417,938 (GRCm39) |
T216I |
probably benign |
Het |
| Or52ad1 |
C |
T |
7: 102,995,908 (GRCm39) |
V76I |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,686 (GRCm39) |
|
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,222 (GRCm39) |
M136K |
probably damaging |
Het |
| Pik3c3 |
C |
A |
18: 30,466,364 (GRCm39) |
A805D |
probably damaging |
Het |
| Pnn |
A |
G |
12: 59,116,929 (GRCm39) |
Q167R |
probably damaging |
Het |
| Pogk |
G |
T |
1: 166,226,380 (GRCm39) |
H590Q |
probably damaging |
Het |
| Prkcd |
A |
G |
14: 30,327,432 (GRCm39) |
L251P |
probably damaging |
Het |
| Prrc1 |
T |
A |
18: 57,496,208 (GRCm39) |
V53E |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,345,522 (GRCm39) |
F856S |
unknown |
Het |
| Rnf31 |
G |
A |
14: 55,833,698 (GRCm39) |
A569T |
probably benign |
Het |
| Robo1 |
T |
A |
16: 72,769,178 (GRCm39) |
D532E |
probably benign |
Het |
| Sh2d6 |
T |
A |
6: 72,497,594 (GRCm39) |
K3* |
probably null |
Het |
| Slc22a27 |
T |
C |
19: 7,874,209 (GRCm39) |
T289A |
probably benign |
Het |
| Speg |
T |
C |
1: 75,361,498 (GRCm39) |
S171P |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,770,329 (GRCm39) |
F622I |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,679,586 (GRCm39) |
D589G |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,255,706 (GRCm39) |
I2391M |
probably benign |
Het |
| Sytl2 |
A |
G |
7: 90,007,384 (GRCm39) |
M49V |
probably benign |
Het |
| Tmem185b |
T |
C |
1: 119,454,368 (GRCm39) |
V43A |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 20,993,590 (GRCm39) |
M499K |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,593 (GRCm39) |
S159R |
possibly damaging |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,628 (GRCm39) |
Y103C |
probably damaging |
Het |
| Vmn1r65 |
C |
T |
7: 6,011,769 (GRCm39) |
C155Y |
possibly damaging |
Het |
| Zfp592 |
A |
T |
7: 80,691,529 (GRCm39) |
D1236V |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,803,132 (GRCm39) |
V568A |
possibly damaging |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,346,320 (GRCm39) |
I147F |
probably damaging |
Het |
|
| Other mutations in Vmn2r112 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Vmn2r112
|
APN |
17 |
22,837,917 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01021:Vmn2r112
|
APN |
17 |
22,837,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01122:Vmn2r112
|
APN |
17 |
22,821,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01360:Vmn2r112
|
APN |
17 |
22,837,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01536:Vmn2r112
|
APN |
17 |
22,824,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Vmn2r112
|
APN |
17 |
22,838,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02465:Vmn2r112
|
APN |
17 |
22,833,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4576001:Vmn2r112
|
UTSW |
17 |
22,833,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0278:Vmn2r112
|
UTSW |
17 |
22,821,987 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0328:Vmn2r112
|
UTSW |
17 |
22,824,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0583:Vmn2r112
|
UTSW |
17 |
22,837,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:Vmn2r112
|
UTSW |
17 |
22,833,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1080:Vmn2r112
|
UTSW |
17 |
22,837,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1245:Vmn2r112
|
UTSW |
17 |
22,822,228 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1321:Vmn2r112
|
UTSW |
17 |
22,837,500 (GRCm39) |
nonsense |
probably null |
|
|
R1381:Vmn2r112
|
UTSW |
17 |
22,837,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Vmn2r112
|
UTSW |
17 |
22,821,825 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1519:Vmn2r112
|
UTSW |
17 |
22,837,884 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1572:Vmn2r112
|
UTSW |
17 |
22,822,125 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1590:Vmn2r112
|
UTSW |
17 |
22,833,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1640:Vmn2r112
|
UTSW |
17 |
22,824,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2221:Vmn2r112
|
UTSW |
17 |
22,820,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2223:Vmn2r112
|
UTSW |
17 |
22,820,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2310:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2312:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2337:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2339:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2340:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2341:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2342:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2401:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2860:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2861:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2926:Vmn2r112
|
UTSW |
17 |
22,833,984 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3236:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3237:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3977:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3979:Vmn2r112
|
UTSW |
17 |
22,822,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4168:Vmn2r112
|
UTSW |
17 |
22,822,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4256:Vmn2r112
|
UTSW |
17 |
22,837,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4386:Vmn2r112
|
UTSW |
17 |
22,820,303 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4912:Vmn2r112
|
UTSW |
17 |
22,822,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4947:Vmn2r112
|
UTSW |
17 |
22,821,860 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5446:Vmn2r112
|
UTSW |
17 |
22,837,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Vmn2r112
|
UTSW |
17 |
22,838,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6351:Vmn2r112
|
UTSW |
17 |
22,820,259 (GRCm39) |
missense |
probably benign |
|
|
R6384:Vmn2r112
|
UTSW |
17 |
22,824,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6390:Vmn2r112
|
UTSW |
17 |
22,824,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6401:Vmn2r112
|
UTSW |
17 |
22,822,532 (GRCm39) |
nonsense |
probably null |
|
|
R6405:Vmn2r112
|
UTSW |
17 |
22,837,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Vmn2r112
|
UTSW |
17 |
22,822,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6648:Vmn2r112
|
UTSW |
17 |
22,837,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Vmn2r112
|
UTSW |
17 |
22,820,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R6653:Vmn2r112
|
UTSW |
17 |
22,820,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R6654:Vmn2r112
|
UTSW |
17 |
22,822,450 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6700:Vmn2r112
|
UTSW |
17 |
22,822,462 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6993:Vmn2r112
|
UTSW |
17 |
22,822,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7052:Vmn2r112
|
UTSW |
17 |
22,821,507 (GRCm39) |
missense |
probably benign |
|
|
R7454:Vmn2r112
|
UTSW |
17 |
22,822,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7763:Vmn2r112
|
UTSW |
17 |
22,822,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Vmn2r112
|
UTSW |
17 |
22,822,375 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8177:Vmn2r112
|
UTSW |
17 |
22,822,594 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8263:Vmn2r112
|
UTSW |
17 |
22,824,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8395:Vmn2r112
|
UTSW |
17 |
22,837,587 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8492:Vmn2r112
|
UTSW |
17 |
22,821,470 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8889:Vmn2r112
|
UTSW |
17 |
22,837,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Vmn2r112
|
UTSW |
17 |
22,837,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Vmn2r112
|
UTSW |
17 |
22,820,213 (GRCm39) |
missense |
probably benign |
|
|
R9273:Vmn2r112
|
UTSW |
17 |
22,837,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Vmn2r112
|
UTSW |
17 |
22,822,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Vmn2r112
|
UTSW |
17 |
22,822,479 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9406:Vmn2r112
|
UTSW |
17 |
22,824,223 (GRCm39) |
nonsense |
probably null |
|
|
R9432:Vmn2r112
|
UTSW |
17 |
22,821,233 (GRCm39) |
missense |
|
|
|
R9728:Vmn2r112
|
UTSW |
17 |
22,824,108 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Vmn2r112
|
UTSW |
17 |
22,824,059 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACACTATACTTTTGTTCAGCC -3'
(R):5'- ATTCGTATAATTAGGCTGAACCCAC -3'
Sequencing Primer
(F):5'- GTTCAGCCGTTGAATTTCACTG -3'
(R):5'- TAATTAGGCTGAACCCACCTGTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation