Incidental Mutation 'R2938:Vmn2r12'
| ID |
256102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r12
|
| Ensembl Gene |
ENSMUSG00000090688 |
| Gene Name |
vomeronasal 2, receptor 12 |
| Synonyms |
Gm6769 |
| MMRRC Submission |
040515-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2938 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109233715-109245730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 109239397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 389
(E389K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095922]
|
| AlphaFold |
L7N217 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095922
AA Change: E389K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: E389K
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
T |
A |
2: 166,736,653 (GRCm39) |
I1775K |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,864,836 (GRCm39) |
M933K |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 65,910,550 (GRCm39) |
H427Q |
possibly damaging |
Het |
| Bace2 |
T |
C |
16: 97,213,388 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
G |
2: 24,496,540 (GRCm39) |
V125A |
probably benign |
Het |
| Cbarp |
T |
C |
10: 79,967,603 (GRCm39) |
D539G |
probably damaging |
Het |
| Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,805,980 (GRCm39) |
L296* |
probably null |
Het |
| Cd40 |
G |
C |
2: 164,911,622 (GRCm39) |
V191L |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,801,586 (GRCm39) |
I217V |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdr1 |
T |
G |
X: 60,228,968 (GRCm39) |
D66A |
unknown |
Het |
| Cela3b |
A |
G |
4: 137,150,574 (GRCm39) |
I208T |
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,520,788 (GRCm39) |
Q375L |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,995 (GRCm39) |
Q221L |
possibly damaging |
Het |
| Cstl1 |
T |
A |
2: 148,592,977 (GRCm39) |
I44N |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 33,058,965 (GRCm39) |
|
probably null |
Het |
| Dthd1 |
A |
G |
5: 63,000,300 (GRCm39) |
I541V |
probably benign |
Het |
| Eml6 |
G |
A |
11: 29,783,049 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,222,900 (GRCm39) |
T1000S |
probably benign |
Het |
| Gimap8 |
A |
T |
6: 48,635,730 (GRCm39) |
R498S |
possibly damaging |
Het |
| Glis1 |
A |
G |
4: 107,489,488 (GRCm39) |
N692D |
possibly damaging |
Het |
| Gpr83 |
A |
G |
9: 14,776,167 (GRCm39) |
T163A |
probably benign |
Het |
| Hmgcr |
G |
A |
13: 96,799,576 (GRCm39) |
L173F |
probably damaging |
Het |
| Htr2b |
T |
A |
1: 86,030,177 (GRCm39) |
I173F |
possibly damaging |
Het |
| Ifna11 |
T |
C |
4: 88,738,530 (GRCm39) |
L112P |
probably damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,654 (GRCm39) |
K170E |
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,220,635 (GRCm39) |
M31L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,326,695 (GRCm39) |
N2815S |
probably damaging |
Het |
| Man1c1 |
A |
G |
4: 134,430,263 (GRCm39) |
I173T |
possibly damaging |
Het |
| Man2b2 |
A |
G |
5: 36,978,330 (GRCm39) |
I318T |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,752,033 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,795,803 (GRCm39) |
S1315T |
probably damaging |
Het |
| Nsun5 |
C |
T |
5: 135,404,317 (GRCm39) |
Q375* |
probably null |
Het |
| Opcml |
A |
G |
9: 27,702,682 (GRCm39) |
M1V |
probably null |
Het |
| Or4d5 |
A |
T |
9: 40,012,039 (GRCm39) |
I249K |
probably benign |
Het |
| Or5m3 |
T |
C |
2: 85,838,357 (GRCm39) |
M79T |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,484 (GRCm39) |
F26Y |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,328 (GRCm39) |
I232T |
possibly damaging |
Het |
| Pdss1 |
T |
A |
2: 22,796,799 (GRCm39) |
|
probably null |
Het |
| Pfkfb2 |
G |
A |
1: 130,633,147 (GRCm39) |
T202I |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,277,731 (GRCm39) |
F242Y |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,280,625 (GRCm39) |
T437A |
probably benign |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rbm10 |
T |
C |
X: 20,513,934 (GRCm39) |
L429P |
possibly damaging |
Het |
| Saraf |
A |
G |
8: 34,635,735 (GRCm39) |
N346D |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,618 (GRCm39) |
D93G |
probably damaging |
Het |
| Sgcg |
A |
T |
14: 61,467,074 (GRCm39) |
F175L |
probably damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,282,789 (GRCm39) |
D449G |
probably benign |
Het |
| Slc9a3 |
T |
C |
13: 74,269,788 (GRCm39) |
I52T |
possibly damaging |
Het |
| Tcf7 |
A |
T |
11: 52,173,610 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
A |
G |
5: 65,083,251 (GRCm39) |
V442A |
probably damaging |
Het |
| Tmub1 |
A |
G |
5: 24,650,922 (GRCm39) |
*261Q |
probably null |
Het |
| Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,649,561 (GRCm39) |
D670G |
probably damaging |
Het |
| Vamp5 |
A |
G |
6: 72,346,323 (GRCm39) |
V91A |
probably benign |
Het |
| Vmn1r35 |
A |
T |
6: 66,655,950 (GRCm39) |
M73K |
possibly damaging |
Het |
| Wdsub1 |
T |
C |
2: 59,703,630 (GRCm39) |
T112A |
possibly damaging |
Het |
| Xpo4 |
G |
T |
14: 57,841,897 (GRCm39) |
Q473K |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,909,130 (GRCm39) |
I797T |
probably damaging |
Het |
| Zfp808 |
G |
A |
13: 62,319,032 (GRCm39) |
V67M |
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 |
|
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 |
|
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'- GGGTCCATTTAAAAGATCCCATTG -3'
(R):5'- TGTCACTTTTGCACACCATG -3'
Sequencing Primer
(F):5'- AAAAGATCCCATTGATATATCTGAGC -3'
(R):5'- GCTAACTTTAGGAATTTCTTGCAAAC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation