Incidental Mutation 'R4299:Vmn2r12'
| ID |
323479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r12
|
| Ensembl Gene |
ENSMUSG00000090688 |
| Gene Name |
vomeronasal 2, receptor 12 |
| Synonyms |
Gm6769 |
| MMRRC Submission |
041087-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109233715-109245730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109239830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 244
(M244I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095922]
|
| AlphaFold |
L7N217 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095922
AA Change: M244I
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: M244I
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (76/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Akna |
A |
T |
4: 63,316,269 (GRCm39) |
D31E |
possibly damaging |
Het |
| Apbb2 |
A |
T |
5: 66,470,721 (GRCm39) |
H528Q |
probably damaging |
Het |
| Atp6v1g3 |
C |
A |
1: 138,211,462 (GRCm39) |
Y47* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
| C4b |
T |
C |
17: 34,950,118 (GRCm39) |
D1384G |
possibly damaging |
Het |
| Cbfa2t2 |
G |
A |
2: 154,365,848 (GRCm39) |
V353I |
probably damaging |
Het |
| Ccdc121 |
A |
G |
5: 31,644,870 (GRCm39) |
R208G |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,988,731 (GRCm39) |
I211T |
probably damaging |
Het |
| Cep170b |
T |
C |
12: 112,705,739 (GRCm39) |
S1166P |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crygs |
G |
A |
16: 22,624,161 (GRCm39) |
Q149* |
probably null |
Het |
| Cyp2c70 |
T |
C |
19: 40,172,372 (GRCm39) |
Q90R |
probably benign |
Het |
| Cyp3a41b |
T |
C |
5: 145,510,487 (GRCm39) |
Y129C |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,896,989 (GRCm39) |
T3645A |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,774,561 (GRCm39) |
D429N |
probably damaging |
Het |
| Dolk |
A |
T |
2: 30,175,200 (GRCm39) |
W282R |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,729,008 (GRCm39) |
|
probably null |
Het |
| Dysf |
A |
G |
6: 84,045,059 (GRCm39) |
T297A |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,620,717 (GRCm39) |
D142E |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,337,882 (GRCm39) |
N29K |
probably benign |
Het |
| Fxyd7 |
A |
T |
7: 30,744,407 (GRCm39) |
M36K |
probably benign |
Het |
| Gabbr1 |
C |
T |
17: 37,366,792 (GRCm39) |
R178* |
probably null |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Il1rapl1 |
A |
T |
X: 86,344,313 (GRCm39) |
I194N |
probably damaging |
Het |
| Kics2 |
C |
A |
10: 121,581,351 (GRCm39) |
H117Q |
probably benign |
Het |
| Klhl24 |
T |
C |
16: 19,925,754 (GRCm39) |
M94T |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,669,912 (GRCm39) |
I133N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,293,199 (GRCm39) |
I5381T |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,148 (GRCm39) |
L197P |
probably damaging |
Het |
| Mapkapk3 |
G |
A |
9: 107,134,648 (GRCm39) |
T296M |
probably damaging |
Het |
| Micall2 |
T |
C |
5: 139,695,226 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,654,164 (GRCm39) |
T1214A |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Neurl4 |
A |
C |
11: 69,799,887 (GRCm39) |
D1055A |
probably damaging |
Het |
| Nrbp1 |
T |
C |
5: 31,407,943 (GRCm39) |
|
probably null |
Het |
| Or13a20 |
T |
C |
7: 140,232,156 (GRCm39) |
V88A |
probably benign |
Het |
| Or1e21 |
A |
T |
11: 73,344,827 (GRCm39) |
D70E |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,437,202 (GRCm39) |
H94L |
probably benign |
Het |
| Or5j3 |
A |
T |
2: 86,128,585 (GRCm39) |
I142F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,878 (GRCm39) |
Y265* |
probably null |
Het |
| Or8b42 |
T |
G |
9: 38,342,108 (GRCm39) |
Y177D |
probably damaging |
Het |
| Or8d1b |
T |
A |
9: 38,887,055 (GRCm39) |
F28I |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,056,295 (GRCm39) |
S300P |
probably benign |
Het |
| Patj |
C |
A |
4: 98,565,558 (GRCm39) |
N1090K |
possibly damaging |
Het |
| Pde8a |
A |
G |
7: 80,977,783 (GRCm39) |
D692G |
probably benign |
Het |
| Ppa2 |
G |
T |
3: 133,073,603 (GRCm39) |
K220N |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,546,419 (GRCm39) |
K137E |
probably damaging |
Het |
| Ptgr3 |
A |
T |
18: 84,112,626 (GRCm39) |
I101F |
possibly damaging |
Het |
| Rad54b |
A |
G |
4: 11,597,865 (GRCm39) |
H250R |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rgs14 |
A |
G |
13: 55,531,566 (GRCm39) |
T497A |
probably damaging |
Het |
| Rpl13-ps3 |
T |
A |
14: 59,130,972 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
G |
9: 119,594,572 (GRCm39) |
I1274L |
probably damaging |
Het |
| Sco1 |
A |
T |
11: 66,946,626 (GRCm39) |
H133L |
possibly damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,694,521 (GRCm39) |
|
probably null |
Het |
| Smc2 |
C |
T |
4: 52,440,238 (GRCm39) |
|
probably benign |
Het |
| Spata18 |
T |
C |
5: 73,824,245 (GRCm39) |
I156T |
probably benign |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,674,640 (GRCm39) |
F48L |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
A |
T |
17: 25,334,230 (GRCm39) |
S6T |
possibly damaging |
Het |
| Tnfrsf11b |
T |
C |
15: 54,115,491 (GRCm39) |
M369V |
probably benign |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,283 (GRCm39) |
M66L |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,162,589 (GRCm39) |
L97* |
probably null |
Het |
| Xrcc5 |
T |
C |
1: 72,433,879 (GRCm39) |
*733Q |
probably null |
Het |
| Zfp1004 |
G |
A |
2: 150,032,653 (GRCm39) |
D17N |
probably damaging |
Het |
| Zfp516 |
G |
A |
18: 83,005,622 (GRCm39) |
G842D |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
probably null |
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 |
|
R2421: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 |
|
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'- GTGTGCAAAAGTGACAGTCCC -3'
(R):5'- CACACACTTGTCCCATGGTATG -3'
Sequencing Primer
(F):5'- TGACAGTCCCTTGGAAGAAATC -3'
(R):5'- CCATGGTATGGTCTCCTTGATGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation