Incidental Mutation 'R2159:Vmn2r12'
ID |
235038 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r12
|
Ensembl Gene |
ENSMUSG00000090688 |
Gene Name |
vomeronasal 2, receptor 12 |
Synonyms |
Gm6769 |
MMRRC Submission |
040162-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R2159 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
109233715-109245730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109239340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 408
(I408F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095922]
|
AlphaFold |
L7N217 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095922
AA Change: I408F
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000093612 Gene: ENSMUSG00000090688 AA Change: I408F
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
G |
A |
12: 81,607,241 (GRCm39) |
P174S |
probably benign |
Het |
Aida |
C |
T |
1: 183,103,234 (GRCm39) |
P185S |
probably benign |
Het |
Alg11 |
T |
G |
8: 22,555,861 (GRCm39) |
I374R |
probably benign |
Het |
Ano9 |
T |
C |
7: 140,688,030 (GRCm39) |
I229V |
probably benign |
Het |
Apob |
A |
T |
12: 8,060,081 (GRCm39) |
L2821F |
probably benign |
Het |
Atp10b |
C |
T |
11: 43,042,680 (GRCm39) |
T80I |
possibly damaging |
Het |
BC024139 |
T |
C |
15: 76,005,688 (GRCm39) |
H478R |
probably damaging |
Het |
Btbd1 |
A |
T |
7: 81,450,804 (GRCm39) |
D325E |
possibly damaging |
Het |
Camk2a |
G |
A |
18: 61,090,257 (GRCm39) |
C199Y |
probably damaging |
Het |
Casp3 |
A |
G |
8: 47,087,323 (GRCm39) |
D90G |
probably damaging |
Het |
Ccnt2 |
A |
G |
1: 127,702,891 (GRCm39) |
H71R |
probably benign |
Het |
Cdk2ap1 |
G |
A |
5: 124,486,667 (GRCm39) |
R65* |
probably null |
Het |
Cebpb |
G |
T |
2: 167,531,173 (GRCm39) |
A78S |
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,682,606 (GRCm39) |
F1613L |
unknown |
Het |
Cpd |
T |
C |
11: 76,688,467 (GRCm39) |
D935G |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cwc27 |
A |
G |
13: 104,940,837 (GRCm39) |
I174T |
probably damaging |
Het |
Cyp21a1 |
C |
A |
17: 35,021,378 (GRCm39) |
R331L |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,252,691 (GRCm39) |
T795A |
probably benign |
Het |
Eif2ak2 |
A |
G |
17: 79,181,447 (GRCm39) |
V100A |
possibly damaging |
Het |
Foxa3 |
A |
G |
7: 18,748,109 (GRCm39) |
V339A |
probably benign |
Het |
Gp2 |
T |
C |
7: 119,051,507 (GRCm39) |
D236G |
probably benign |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Gzmd |
T |
A |
14: 56,368,153 (GRCm39) |
H102L |
probably damaging |
Het |
Klk1b1 |
A |
T |
7: 43,619,857 (GRCm39) |
I139F |
probably damaging |
Het |
Lcmt2 |
G |
A |
2: 120,969,766 (GRCm39) |
P439L |
probably damaging |
Het |
Loxl4 |
C |
T |
19: 42,588,446 (GRCm39) |
A570T |
probably damaging |
Het |
Mga |
T |
A |
2: 119,750,124 (GRCm39) |
H674Q |
probably damaging |
Het |
Mybpc3 |
A |
T |
2: 90,955,715 (GRCm39) |
K583M |
probably damaging |
Het |
Ncoa6 |
G |
T |
2: 155,249,633 (GRCm39) |
P1224T |
probably damaging |
Het |
Nostrin |
A |
G |
2: 69,011,266 (GRCm39) |
|
probably null |
Het |
Or13e8 |
T |
C |
4: 43,697,110 (GRCm39) |
H21R |
probably benign |
Het |
Or4c3 |
A |
T |
2: 89,851,882 (GRCm39) |
V176E |
probably damaging |
Het |
Oxsr1 |
A |
C |
9: 119,133,880 (GRCm39) |
D58E |
possibly damaging |
Het |
Parm1 |
A |
G |
5: 91,760,923 (GRCm39) |
Y265C |
probably damaging |
Het |
Phf10 |
C |
T |
17: 15,172,926 (GRCm39) |
E304K |
probably damaging |
Het |
Prmt5 |
T |
C |
14: 54,752,795 (GRCm39) |
T139A |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptp4a3 |
A |
G |
15: 73,623,865 (GRCm39) |
T32A |
probably benign |
Het |
Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
Rad51ap2 |
T |
C |
12: 11,507,752 (GRCm39) |
L558S |
possibly damaging |
Het |
Rapgef4 |
A |
G |
2: 72,005,225 (GRCm39) |
D80G |
probably damaging |
Het |
Sec24a |
T |
G |
11: 51,603,177 (GRCm39) |
H757P |
probably damaging |
Het |
Sema4d |
T |
C |
13: 51,874,571 (GRCm39) |
N129D |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,531,251 (GRCm39) |
T323A |
probably benign |
Het |
Setd1a |
G |
A |
7: 127,384,661 (GRCm39) |
R504H |
possibly damaging |
Het |
Sftpb |
T |
C |
6: 72,286,770 (GRCm39) |
C226R |
probably damaging |
Het |
Sp8 |
T |
C |
12: 118,812,441 (GRCm39) |
S99P |
possibly damaging |
Het |
Srgap3 |
A |
G |
6: 112,748,339 (GRCm39) |
F438L |
probably damaging |
Het |
Stim2 |
T |
C |
5: 54,267,156 (GRCm39) |
Y365H |
probably damaging |
Het |
Stk36 |
A |
G |
1: 74,673,896 (GRCm39) |
Q1263R |
probably benign |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Troap |
G |
T |
15: 98,975,467 (GRCm39) |
A184S |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,729,671 (GRCm39) |
|
probably benign |
Het |
Vmn2r108 |
C |
A |
17: 20,689,363 (GRCm39) |
A531S |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,950,169 (GRCm39) |
E226V |
probably benign |
Het |
Vmo1 |
A |
G |
11: 70,404,608 (GRCm39) |
F131S |
probably benign |
Het |
Vwf |
T |
C |
6: 125,603,304 (GRCm39) |
F885L |
probably damaging |
Het |
Wdpcp |
A |
T |
11: 21,807,476 (GRCm39) |
M618L |
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,070,715 (GRCm39) |
E1072G |
probably benign |
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 |
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 |
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'- AGATTCATTAGGGAGATTTGCAGTG -3'
(R):5'- AACATTTCTGAGTCTATACTGCAGTGG -3'
Sequencing Primer
(F):5'- TTAGGGAGATTTGCAGTGTAGAAATC -3'
(R):5'- CTGAGTCTATACTGCAGTGGAATTC -3'
|
Posted On |
2014-10-01 |