Incidental Mutation 'R5389:Vmn2r12'
| ID |
425464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r12
|
| Ensembl Gene |
ENSMUSG00000090688 |
| Gene Name |
vomeronasal 2, receptor 12 |
| Synonyms |
Gm6769 |
| MMRRC Submission |
042961-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5389 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109233715-109245730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109238261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 493
(Y493F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095922]
|
| AlphaFold |
L7N217 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095922
AA Change: Y493F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093612
Gene: ENSMUSG00000090688
AA Change: Y493F
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,638,795 (GRCm39) |
V398A |
probably benign |
Het |
| A430033K04Rik |
T |
A |
5: 138,644,559 (GRCm39) |
V148E |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,485,536 (GRCm39) |
Q1446L |
possibly damaging |
Het |
| Anks6 |
A |
T |
4: 47,038,900 (GRCm39) |
|
probably benign |
Het |
| Arrb2 |
T |
C |
11: 70,329,484 (GRCm39) |
S265P |
probably damaging |
Het |
| Baiap2 |
T |
C |
11: 119,887,496 (GRCm39) |
S264P |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,329,103 (GRCm39) |
V938A |
probably damaging |
Het |
| Cavin4 |
G |
T |
4: 48,663,907 (GRCm39) |
V96F |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 134,965,149 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
C |
A |
1: 93,143,363 (GRCm39) |
Q1322K |
probably benign |
Het |
| Cryzl2 |
T |
A |
1: 157,289,546 (GRCm39) |
C61* |
probably null |
Het |
| Dazl |
T |
C |
17: 50,595,718 (GRCm39) |
I56V |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,456,904 (GRCm39) |
D890V |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,986,140 (GRCm39) |
E1165* |
probably null |
Het |
| Dnmt3l |
T |
A |
10: 77,892,665 (GRCm39) |
|
probably null |
Het |
| Elp2 |
A |
G |
18: 24,739,960 (GRCm39) |
N62S |
possibly damaging |
Het |
| Entr1 |
T |
C |
2: 26,275,559 (GRCm39) |
D244G |
probably damaging |
Het |
| Fam216b |
T |
A |
14: 78,322,503 (GRCm39) |
H26L |
possibly damaging |
Het |
| Fbxw25 |
T |
A |
9: 109,481,954 (GRCm39) |
Q244L |
possibly damaging |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
T |
C |
7: 106,197,442 (GRCm39) |
|
noncoding transcript |
Het |
| Igf2r |
T |
C |
17: 12,944,303 (GRCm39) |
Y400C |
probably damaging |
Het |
| Iqcc |
A |
G |
4: 129,512,413 (GRCm39) |
F20L |
probably benign |
Het |
| Klhl5 |
T |
A |
5: 65,298,625 (GRCm39) |
L135M |
possibly damaging |
Het |
| Klk1b16 |
A |
T |
7: 43,790,412 (GRCm39) |
M196L |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,858,719 (GRCm39) |
M489T |
possibly damaging |
Het |
| Mctp2 |
G |
T |
7: 71,863,835 (GRCm39) |
R343S |
possibly damaging |
Het |
| Nbas |
T |
A |
12: 13,584,578 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
A |
T |
7: 4,343,932 (GRCm39) |
M177L |
probably benign |
Het |
| Net1 |
C |
T |
13: 3,936,170 (GRCm39) |
E305K |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,985,000 (GRCm39) |
F375L |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,358,163 (GRCm39) |
I1687L |
probably benign |
Het |
| Obsl1 |
A |
T |
1: 75,479,905 (GRCm39) |
|
probably benign |
Het |
| Or2ag16 |
A |
T |
7: 106,352,290 (GRCm39) |
F102I |
probably damaging |
Het |
| Or2t46 |
C |
G |
11: 58,471,825 (GRCm39) |
L52V |
possibly damaging |
Het |
| Or51v14 |
G |
T |
7: 103,260,797 (GRCm39) |
Y254* |
probably null |
Het |
| Or5g23 |
A |
G |
2: 85,438,627 (GRCm39) |
F209S |
probably benign |
Het |
| Or5j3 |
G |
A |
2: 86,128,561 (GRCm39) |
V134M |
possibly damaging |
Het |
| Or5p79 |
A |
C |
7: 108,221,924 (GRCm39) |
I302L |
probably damaging |
Het |
| Orai1 |
A |
T |
5: 123,167,564 (GRCm39) |
M246L |
probably benign |
Het |
| Pcdhga12 |
G |
A |
18: 37,899,785 (GRCm39) |
A206T |
probably damaging |
Het |
| Plxdc2 |
C |
A |
2: 16,654,998 (GRCm39) |
T199K |
probably damaging |
Het |
| Prkd1 |
T |
A |
12: 50,389,920 (GRCm39) |
I819F |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 56,964,121 (GRCm39) |
|
probably benign |
Het |
| Rabl6 |
T |
C |
2: 25,478,666 (GRCm39) |
E255G |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,286,099 (GRCm39) |
|
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,115,699 (GRCm39) |
M282V |
possibly damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,686,193 (GRCm39) |
F216L |
probably benign |
Het |
| Slco2b1 |
A |
G |
7: 99,335,132 (GRCm39) |
I216T |
probably damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,916,309 (GRCm39) |
|
noncoding transcript |
Het |
| Slco6d1 |
A |
T |
1: 98,371,369 (GRCm39) |
I285F |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Sp9 |
C |
A |
2: 73,104,641 (GRCm39) |
N398K |
probably damaging |
Het |
| Sycp2 |
A |
C |
2: 178,019,495 (GRCm39) |
|
probably null |
Het |
| Tbc1d23 |
T |
C |
16: 57,019,291 (GRCm39) |
D219G |
probably damaging |
Het |
| Tdpoz3 |
A |
G |
3: 93,734,179 (GRCm39) |
R285G |
probably benign |
Het |
| Trim2 |
T |
A |
3: 84,074,960 (GRCm39) |
Q694L |
probably null |
Het |
| Trim23 |
T |
A |
13: 104,328,541 (GRCm39) |
V293D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,665,183 (GRCm39) |
|
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,046,708 (GRCm39) |
I753N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Yme1l1 |
G |
A |
2: 23,083,246 (GRCm39) |
G571R |
probably damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,149 (GRCm39) |
C198S |
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 |
|
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 |
|
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'- GCTGTAAGTATAGTCACAAGGAATCAG -3'
(R):5'- GTCTTCCATGCTGAAATCCAGG -3'
Sequencing Primer
(F):5'- GGTCTTTGCTCCATATAACCAGAAGG -3'
(R):5'- CCAGGATATTTACTAACCCTTTTGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation