Incidental Mutation 'R6176:Vmn2r12'
ID |
487755 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r12
|
Ensembl Gene |
ENSMUSG00000090688 |
Gene Name |
vomeronasal 2, receptor 12 |
Synonyms |
Gm6769 |
MMRRC Submission |
044318-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R6176 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
109233715-109245730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109233866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 782
(Y782C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095922]
|
AlphaFold |
L7N217 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095922
AA Change: Y782C
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093612 Gene: ENSMUSG00000090688 AA Change: Y782C
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
T |
C |
4: 63,295,969 (GRCm39) |
Q966R |
probably benign |
Het |
Amn |
A |
G |
12: 111,240,590 (GRCm39) |
D74G |
possibly damaging |
Het |
Ank2 |
T |
A |
3: 126,739,120 (GRCm39) |
T2255S |
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Apaf1 |
A |
G |
10: 90,895,433 (GRCm39) |
|
probably null |
Het |
Asl |
T |
A |
5: 130,047,720 (GRCm39) |
H82L |
probably benign |
Het |
Atrn |
A |
G |
2: 130,788,011 (GRCm39) |
E271G |
probably benign |
Het |
B4galnt3 |
A |
G |
6: 120,201,125 (GRCm39) |
F184S |
probably damaging |
Het |
C1s2 |
T |
A |
6: 124,602,768 (GRCm39) |
H481L |
probably damaging |
Het |
Cav2 |
A |
G |
6: 17,286,918 (GRCm39) |
D58G |
possibly damaging |
Het |
Cc2d2a |
A |
T |
5: 43,866,455 (GRCm39) |
H755L |
probably benign |
Het |
Ccdc65 |
A |
G |
15: 98,606,433 (GRCm39) |
|
probably null |
Het |
Celsr3 |
A |
T |
9: 108,705,554 (GRCm39) |
Y679F |
probably damaging |
Het |
Cep135 |
A |
T |
5: 76,772,490 (GRCm39) |
Y625F |
probably benign |
Het |
Cfhr1 |
A |
G |
1: 139,478,654 (GRCm39) |
S58P |
probably damaging |
Het |
Clip4 |
T |
A |
17: 72,113,628 (GRCm39) |
C259* |
probably null |
Het |
Cyp2j12 |
T |
A |
4: 96,029,074 (GRCm39) |
Q69L |
probably damaging |
Het |
Dock3 |
G |
A |
9: 106,790,147 (GRCm39) |
T1484I |
probably benign |
Het |
Ecscr |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
18: 35,849,813 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,683,383 (GRCm39) |
I1604F |
probably benign |
Het |
Fam43b |
T |
C |
4: 138,122,522 (GRCm39) |
D266G |
probably damaging |
Het |
Fbxl13 |
T |
A |
5: 21,705,498 (GRCm39) |
I618F |
possibly damaging |
Het |
Gne |
C |
T |
4: 44,053,019 (GRCm39) |
|
probably benign |
Het |
Gnpat |
T |
A |
8: 125,605,593 (GRCm39) |
V321E |
probably damaging |
Het |
Gpatch8 |
G |
A |
11: 102,378,350 (GRCm39) |
A200V |
unknown |
Het |
Grid1 |
C |
A |
14: 35,284,504 (GRCm39) |
A749E |
probably benign |
Het |
Grip2 |
C |
T |
6: 91,756,832 (GRCm39) |
V540I |
probably benign |
Het |
Ice2 |
C |
T |
9: 69,324,354 (GRCm39) |
T759M |
probably damaging |
Het |
Jrk |
G |
T |
15: 74,578,189 (GRCm39) |
N365K |
possibly damaging |
Het |
Kank4 |
A |
G |
4: 98,653,791 (GRCm39) |
I879T |
probably damaging |
Het |
Krtap20-1 |
T |
A |
16: 88,812,288 (GRCm39) |
Y24* |
probably null |
Het |
Lao1 |
T |
A |
4: 118,819,197 (GRCm39) |
M1K |
probably null |
Het |
Mlf1 |
A |
G |
3: 67,291,927 (GRCm39) |
R31G |
probably damaging |
Het |
Nt5c3b |
T |
C |
11: 100,330,974 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
A |
G |
2: 119,460,902 (GRCm39) |
R132G |
probably benign |
Het |
Or11g1 |
A |
G |
14: 50,651,847 (GRCm39) |
Y282C |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or5w20 |
G |
A |
2: 87,727,280 (GRCm39) |
V254I |
probably benign |
Het |
Or8d2b |
A |
C |
9: 38,788,673 (GRCm39) |
D67A |
probably damaging |
Het |
Paqr9 |
G |
T |
9: 95,442,828 (GRCm39) |
V273L |
possibly damaging |
Het |
Pcdha9 |
A |
T |
18: 37,131,984 (GRCm39) |
D351V |
probably benign |
Het |
Pcdhga1 |
A |
G |
18: 37,797,282 (GRCm39) |
D762G |
probably benign |
Het |
Pde3a |
T |
A |
6: 141,444,615 (GRCm39) |
L1141Q |
possibly damaging |
Het |
Pga5 |
T |
A |
19: 10,649,149 (GRCm39) |
|
probably null |
Het |
Phldb3 |
C |
A |
7: 24,326,127 (GRCm39) |
R570S |
probably damaging |
Het |
Slc22a6 |
A |
C |
19: 8,599,161 (GRCm39) |
E264A |
probably damaging |
Het |
Slc49a4 |
C |
T |
16: 35,525,167 (GRCm39) |
M426I |
probably benign |
Het |
Slit1 |
T |
C |
19: 41,626,034 (GRCm39) |
K576R |
probably damaging |
Het |
Sox21 |
T |
C |
14: 118,473,040 (GRCm39) |
K3R |
possibly damaging |
Het |
Stk32c |
A |
T |
7: 138,700,691 (GRCm39) |
D297E |
probably benign |
Het |
Suclg1 |
T |
C |
6: 73,252,326 (GRCm39) |
V323A |
probably damaging |
Het |
Tas1r2 |
T |
G |
4: 139,396,199 (GRCm39) |
C513G |
probably damaging |
Het |
Tbc1d23 |
A |
G |
16: 56,992,152 (GRCm39) |
Y603H |
probably damaging |
Het |
Tbc1d31 |
T |
C |
15: 57,816,192 (GRCm39) |
V642A |
probably damaging |
Het |
Tle2 |
A |
T |
10: 81,423,168 (GRCm39) |
D486V |
probably damaging |
Het |
Tmem232 |
A |
G |
17: 65,792,867 (GRCm39) |
I110T |
probably damaging |
Het |
Tmem39b |
A |
G |
4: 129,586,894 (GRCm39) |
Y106H |
probably damaging |
Het |
Trpm4 |
T |
G |
7: 44,976,100 (GRCm39) |
N229T |
probably damaging |
Het |
Tspo |
A |
G |
15: 83,458,007 (GRCm39) |
T120A |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,371,851 (GRCm39) |
A767T |
probably damaging |
Het |
Usp53 |
G |
A |
3: 122,727,652 (GRCm39) |
Q977* |
probably null |
Het |
Vmn1r215 |
T |
A |
13: 23,260,528 (GRCm39) |
D189E |
probably damaging |
Het |
Vmn2r54 |
A |
G |
7: 12,349,908 (GRCm39) |
L558P |
probably damaging |
Het |
Zfp268 |
T |
A |
4: 145,350,628 (GRCm39) |
C688* |
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 |
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 |
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'- GCATGTTATCTTTGTACTTCTGCAG -3'
(R):5'- TCACTACTCCTGGGAGAAGGATG -3'
Sequencing Primer
(F):5'- GTACTTCTGCAGATTTGAATCTAGTC -3'
(R):5'- CCTCCCTTTATTGACAGAGATACAC -3'
|
Posted On |
2017-10-10 |