Incidental Mutation 'R5244:Vmn2r101'
ID |
401081 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r101
|
Ensembl Gene |
ENSMUSG00000094892 |
Gene Name |
vomeronasal 2, receptor 101 |
Synonyms |
EG627576 |
MMRRC Submission |
042815-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5244 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
19797493-19832579 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19831788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 595
(S595P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131583
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171914]
|
AlphaFold |
E9PZS9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171914
AA Change: S595P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131583 Gene: ENSMUSG00000094892 AA Change: S595P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
82 |
466 |
1.6e-36 |
PFAM |
Pfam:NCD3G
|
509 |
562 |
6.4e-22 |
PFAM |
Pfam:7tm_3
|
595 |
830 |
1.4e-51 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
97% (63/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
G |
T |
9: 53,323,098 (GRCm39) |
G45W |
probably damaging |
Het |
Abca13 |
C |
T |
11: 9,225,081 (GRCm39) |
T520I |
probably benign |
Het |
Adamtsl3 |
C |
T |
7: 82,247,277 (GRCm39) |
P485L |
probably benign |
Het |
Bbof1 |
A |
C |
12: 84,476,847 (GRCm39) |
E492A |
possibly damaging |
Het |
Capn11 |
T |
C |
17: 45,944,818 (GRCm39) |
E483G |
probably damaging |
Het |
Cbs |
C |
T |
17: 31,836,134 (GRCm39) |
G438D |
probably damaging |
Het |
Chil6 |
A |
G |
3: 106,297,290 (GRCm39) |
Y284H |
probably damaging |
Het |
Cops4 |
C |
A |
5: 100,681,241 (GRCm39) |
Q131K |
probably benign |
Het |
Cul4a |
T |
C |
8: 13,196,566 (GRCm39) |
I740T |
probably damaging |
Het |
Cyfip1 |
C |
T |
7: 55,574,947 (GRCm39) |
T1066I |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,273,018 (GRCm39) |
L2382P |
probably damaging |
Het |
Ehd3 |
A |
T |
17: 74,136,995 (GRCm39) |
H388L |
probably benign |
Het |
Fam13a |
G |
T |
6: 58,930,459 (GRCm39) |
Y484* |
probably null |
Het |
Gm5117 |
A |
G |
8: 32,228,305 (GRCm39) |
|
noncoding transcript |
Het |
Gulp1 |
G |
A |
1: 44,827,613 (GRCm39) |
D260N |
probably damaging |
Het |
Hhipl1 |
T |
A |
12: 108,278,393 (GRCm39) |
N240K |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,259,451 (GRCm39) |
E2474D |
possibly damaging |
Het |
Ifi207 |
C |
T |
1: 173,557,503 (GRCm39) |
V412I |
probably benign |
Het |
Ighv9-4 |
T |
C |
12: 114,263,871 (GRCm39) |
I21V |
probably benign |
Het |
Kcnh1 |
A |
T |
1: 191,907,184 (GRCm39) |
T79S |
probably benign |
Het |
Kpna6 |
A |
G |
4: 129,549,221 (GRCm39) |
|
probably null |
Het |
Lnpk |
C |
T |
2: 74,362,232 (GRCm39) |
G262D |
probably damaging |
Het |
Lsm7 |
T |
C |
10: 80,688,907 (GRCm39) |
E66G |
probably benign |
Het |
Mbd3l1 |
T |
A |
9: 18,395,933 (GRCm39) |
C19* |
probably null |
Het |
Mfsd6l |
T |
A |
11: 68,448,001 (GRCm39) |
L284Q |
possibly damaging |
Het |
Naip5 |
C |
T |
13: 100,382,170 (GRCm39) |
V180I |
probably benign |
Het |
Or2ag1b |
T |
A |
7: 106,288,396 (GRCm39) |
I181F |
probably benign |
Het |
Or2j6 |
A |
T |
7: 139,980,051 (GRCm39) |
C303S |
probably benign |
Het |
Or4k39 |
T |
A |
2: 111,238,899 (GRCm39) |
|
noncoding transcript |
Het |
Or6d13 |
T |
A |
6: 116,518,187 (GRCm39) |
Y258N |
probably damaging |
Het |
Or7g22 |
A |
T |
9: 19,049,147 (GRCm39) |
N286I |
probably damaging |
Het |
Or8g20 |
T |
G |
9: 39,395,808 (GRCm39) |
H247P |
probably damaging |
Het |
Or8u10 |
C |
G |
2: 85,915,300 (GRCm39) |
A274P |
probably damaging |
Het |
Pck1 |
T |
A |
2: 172,996,656 (GRCm39) |
I190N |
possibly damaging |
Het |
Pfkfb3 |
T |
A |
2: 11,489,660 (GRCm39) |
I209F |
probably damaging |
Het |
Phc1 |
A |
G |
6: 122,298,938 (GRCm39) |
S677P |
probably damaging |
Het |
Pirb |
G |
A |
7: 3,719,062 (GRCm39) |
A609V |
probably benign |
Het |
Plag1 |
A |
T |
4: 3,903,887 (GRCm39) |
S435T |
probably benign |
Het |
Plscr2 |
C |
G |
9: 92,173,102 (GRCm39) |
L215V |
probably benign |
Het |
Pnma8a |
A |
G |
7: 16,695,248 (GRCm39) |
S368G |
probably damaging |
Het |
Polr2b |
A |
G |
5: 77,490,847 (GRCm39) |
|
probably benign |
Het |
Pthlh |
T |
C |
6: 147,158,651 (GRCm39) |
Y103C |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,422,556 (GRCm39) |
V1612A |
possibly damaging |
Het |
Rprd2 |
T |
A |
3: 95,697,494 (GRCm39) |
I85L |
possibly damaging |
Het |
Slc27a2 |
T |
C |
2: 126,420,775 (GRCm39) |
V422A |
probably benign |
Het |
Slc29a1 |
T |
C |
17: 45,899,339 (GRCm39) |
|
probably benign |
Het |
Slc36a4 |
A |
T |
9: 15,645,574 (GRCm39) |
I334F |
probably benign |
Het |
Slc4a10 |
T |
A |
2: 62,119,069 (GRCm39) |
S761R |
probably damaging |
Het |
Spa17 |
T |
A |
9: 37,523,285 (GRCm39) |
M1L |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stk19 |
A |
G |
17: 35,051,046 (GRCm39) |
L72P |
probably damaging |
Het |
Trhde |
T |
C |
10: 114,636,986 (GRCm39) |
M74V |
probably benign |
Het |
Trim37 |
C |
T |
11: 87,109,083 (GRCm39) |
H937Y |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,314,269 (GRCm39) |
L46P |
probably damaging |
Het |
Ttll4 |
T |
C |
1: 74,735,607 (GRCm39) |
V1005A |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,239,765 (GRCm39) |
T207A |
probably damaging |
Het |
Unc13c |
C |
T |
9: 73,433,233 (GRCm39) |
|
probably null |
Het |
Vmn1r221 |
T |
C |
13: 23,401,808 (GRCm39) |
|
noncoding transcript |
Het |
Wnt10a |
T |
C |
1: 74,842,454 (GRCm39) |
L310P |
probably damaging |
Het |
Yif1b |
G |
A |
7: 28,943,866 (GRCm39) |
A115T |
probably damaging |
Het |
Zfp219 |
C |
A |
14: 52,245,999 (GRCm39) |
R331L |
possibly damaging |
Het |
|
Other mutations in Vmn2r101 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01121:Vmn2r101
|
APN |
17 |
19,809,936 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02125:Vmn2r101
|
APN |
17 |
19,809,963 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02300:Vmn2r101
|
APN |
17 |
19,832,199 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02682:Vmn2r101
|
APN |
17 |
19,832,507 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02825:Vmn2r101
|
APN |
17 |
19,810,132 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02862:Vmn2r101
|
APN |
17 |
19,831,867 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Vmn2r101
|
APN |
17 |
19,831,666 (GRCm39) |
missense |
probably damaging |
0.99 |
R0371:Vmn2r101
|
UTSW |
17 |
19,810,394 (GRCm39) |
missense |
probably benign |
0.07 |
R0462:Vmn2r101
|
UTSW |
17 |
19,810,431 (GRCm39) |
missense |
probably benign |
0.04 |
R0492:Vmn2r101
|
UTSW |
17 |
19,809,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R0654:Vmn2r101
|
UTSW |
17 |
19,810,373 (GRCm39) |
missense |
probably benign |
0.01 |
R1120:Vmn2r101
|
UTSW |
17 |
19,797,723 (GRCm39) |
splice site |
probably benign |
|
R1323:Vmn2r101
|
UTSW |
17 |
19,832,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R1323:Vmn2r101
|
UTSW |
17 |
19,832,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Vmn2r101
|
UTSW |
17 |
19,832,184 (GRCm39) |
missense |
probably benign |
0.00 |
R2023:Vmn2r101
|
UTSW |
17 |
19,810,368 (GRCm39) |
nonsense |
probably null |
|
R2149:Vmn2r101
|
UTSW |
17 |
19,809,225 (GRCm39) |
missense |
probably benign |
0.00 |
R2350:Vmn2r101
|
UTSW |
17 |
19,810,045 (GRCm39) |
missense |
probably benign |
0.01 |
R2760:Vmn2r101
|
UTSW |
17 |
19,809,901 (GRCm39) |
missense |
probably benign |
0.14 |
R3085:Vmn2r101
|
UTSW |
17 |
19,809,077 (GRCm39) |
splice site |
probably null |
|
R3086:Vmn2r101
|
UTSW |
17 |
19,809,077 (GRCm39) |
splice site |
probably null |
|
R3719:Vmn2r101
|
UTSW |
17 |
19,809,811 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3771:Vmn2r101
|
UTSW |
17 |
19,809,919 (GRCm39) |
missense |
probably benign |
|
R3773:Vmn2r101
|
UTSW |
17 |
19,809,919 (GRCm39) |
missense |
probably benign |
|
R4225:Vmn2r101
|
UTSW |
17 |
19,831,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R4248:Vmn2r101
|
UTSW |
17 |
19,809,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R4290:Vmn2r101
|
UTSW |
17 |
19,832,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Vmn2r101
|
UTSW |
17 |
19,832,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4293:Vmn2r101
|
UTSW |
17 |
19,832,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4307:Vmn2r101
|
UTSW |
17 |
19,810,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R4721:Vmn2r101
|
UTSW |
17 |
19,832,287 (GRCm39) |
missense |
probably damaging |
0.99 |
R4829:Vmn2r101
|
UTSW |
17 |
19,832,229 (GRCm39) |
missense |
probably benign |
0.03 |
R5022:Vmn2r101
|
UTSW |
17 |
19,831,649 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5110:Vmn2r101
|
UTSW |
17 |
19,831,897 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5397:Vmn2r101
|
UTSW |
17 |
19,809,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R5875:Vmn2r101
|
UTSW |
17 |
19,809,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R5944:Vmn2r101
|
UTSW |
17 |
19,809,769 (GRCm39) |
missense |
probably benign |
0.00 |
R6216:Vmn2r101
|
UTSW |
17 |
19,811,267 (GRCm39) |
missense |
probably benign |
0.00 |
R6334:Vmn2r101
|
UTSW |
17 |
19,810,112 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6512:Vmn2r101
|
UTSW |
17 |
19,809,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R6607:Vmn2r101
|
UTSW |
17 |
19,832,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R6965:Vmn2r101
|
UTSW |
17 |
19,811,284 (GRCm39) |
missense |
probably benign |
0.00 |
R7101:Vmn2r101
|
UTSW |
17 |
19,809,350 (GRCm39) |
missense |
probably null |
0.14 |
R7183:Vmn2r101
|
UTSW |
17 |
19,832,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R7344:Vmn2r101
|
UTSW |
17 |
19,832,059 (GRCm39) |
missense |
probably benign |
0.38 |
R7375:Vmn2r101
|
UTSW |
17 |
19,831,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R7574:Vmn2r101
|
UTSW |
17 |
19,831,899 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7575:Vmn2r101
|
UTSW |
17 |
19,831,654 (GRCm39) |
missense |
probably benign |
0.01 |
R7592:Vmn2r101
|
UTSW |
17 |
19,811,443 (GRCm39) |
splice site |
probably null |
|
R7626:Vmn2r101
|
UTSW |
17 |
19,832,192 (GRCm39) |
nonsense |
probably null |
|
R7715:Vmn2r101
|
UTSW |
17 |
19,832,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R7730:Vmn2r101
|
UTSW |
17 |
19,831,950 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8078:Vmn2r101
|
UTSW |
17 |
19,810,507 (GRCm39) |
missense |
probably benign |
0.07 |
R8228:Vmn2r101
|
UTSW |
17 |
19,811,284 (GRCm39) |
missense |
probably benign |
0.00 |
R8283:Vmn2r101
|
UTSW |
17 |
19,832,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R8712:Vmn2r101
|
UTSW |
17 |
19,811,397 (GRCm39) |
missense |
probably benign |
0.24 |
R8765:Vmn2r101
|
UTSW |
17 |
19,809,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R9091:Vmn2r101
|
UTSW |
17 |
19,810,244 (GRCm39) |
missense |
probably benign |
|
R9092:Vmn2r101
|
UTSW |
17 |
19,809,807 (GRCm39) |
missense |
probably benign |
0.07 |
R9113:Vmn2r101
|
UTSW |
17 |
19,811,288 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9158:Vmn2r101
|
UTSW |
17 |
19,809,161 (GRCm39) |
missense |
probably benign |
0.00 |
R9168:Vmn2r101
|
UTSW |
17 |
19,809,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R9235:Vmn2r101
|
UTSW |
17 |
19,810,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R9270:Vmn2r101
|
UTSW |
17 |
19,810,244 (GRCm39) |
missense |
probably benign |
|
R9290:Vmn2r101
|
UTSW |
17 |
19,811,395 (GRCm39) |
missense |
probably benign |
0.05 |
R9296:Vmn2r101
|
UTSW |
17 |
19,810,047 (GRCm39) |
missense |
probably damaging |
0.98 |
R9602:Vmn2r101
|
UTSW |
17 |
19,831,780 (GRCm39) |
nonsense |
probably null |
|
R9706:Vmn2r101
|
UTSW |
17 |
19,809,925 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Vmn2r101
|
UTSW |
17 |
19,809,237 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACTCCTGTTTTCATGATAACC -3'
(R):5'- CTTTGGCCAACACAGTAGCAAG -3'
Sequencing Primer
(F):5'- CCTATATTTCTGACCAGATGTTTACC -3'
(R):5'- TAACTGCAAAGGTAGTCTGCTG -3'
|
Posted On |
2016-07-06 |