Incidental Mutation 'R3832:Vmn2r17'
ID |
274049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r17
|
Ensembl Gene |
ENSMUSG00000091879 |
Gene Name |
vomeronasal 2, receptor 17 |
Synonyms |
EG384221 |
MMRRC Submission |
040887-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R3832 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
109567879-109601253 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109576262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 378
(W378R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171841]
|
AlphaFold |
E9PYF5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171841
AA Change: W378R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131450 Gene: ENSMUSG00000091879 AA Change: W378R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
76 |
465 |
7e-26 |
PFAM |
Pfam:NCD3G
|
508 |
562 |
3.5e-18 |
PFAM |
Pfam:7tm_3
|
593 |
830 |
4.8e-55 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
A |
C |
15: 94,229,339 (GRCm39) |
C927G |
probably damaging |
Het |
Afdn |
T |
A |
17: 14,116,436 (GRCm39) |
D190E |
probably benign |
Het |
Aldh1a7 |
T |
C |
19: 20,685,602 (GRCm39) |
Y316C |
probably damaging |
Het |
Arhgef38 |
T |
C |
3: 132,912,686 (GRCm39) |
R118G |
possibly damaging |
Het |
Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
Cacna1i |
T |
C |
15: 80,240,388 (GRCm39) |
F370S |
probably damaging |
Het |
Cacnb2 |
A |
T |
2: 14,986,236 (GRCm39) |
I338F |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,526,097 (GRCm39) |
M238V |
probably damaging |
Het |
Ccdc3 |
A |
G |
2: 5,233,953 (GRCm39) |
N259S |
probably benign |
Het |
Cep55 |
A |
G |
19: 38,041,560 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
T |
C |
10: 76,546,951 (GRCm39) |
D757G |
unknown |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cyb5d2 |
G |
T |
11: 72,686,349 (GRCm39) |
S80R |
possibly damaging |
Het |
Cyfip2 |
T |
C |
11: 46,152,333 (GRCm39) |
D485G |
probably benign |
Het |
Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
Erich3 |
G |
A |
3: 154,467,998 (GRCm39) |
V817M |
probably damaging |
Het |
Gdf6 |
T |
C |
4: 9,844,568 (GRCm39) |
S31P |
probably benign |
Het |
Gtsf1 |
T |
C |
15: 103,333,902 (GRCm39) |
I25V |
probably damaging |
Het |
Hephl1 |
T |
C |
9: 14,981,044 (GRCm39) |
E796G |
probably damaging |
Het |
Iglv2 |
A |
T |
16: 19,079,593 (GRCm39) |
M1K |
probably null |
Het |
Kif26b |
GAAA |
GAA |
1: 178,744,181 (GRCm39) |
|
probably null |
Het |
Klhl28 |
C |
A |
12: 64,998,195 (GRCm39) |
G433V |
probably damaging |
Het |
Lipn |
T |
C |
19: 34,046,933 (GRCm39) |
|
probably null |
Het |
Lypd10 |
T |
A |
7: 24,413,712 (GRCm39) |
S243T |
probably benign |
Het |
Mapk7 |
A |
G |
11: 61,380,680 (GRCm39) |
S641P |
possibly damaging |
Het |
Med22 |
A |
G |
2: 26,800,379 (GRCm39) |
S17P |
probably damaging |
Het |
Or14c44 |
A |
T |
7: 86,062,401 (GRCm39) |
Y277F |
probably damaging |
Het |
Or14j5 |
T |
C |
17: 38,162,071 (GRCm39) |
V196A |
probably benign |
Het |
Otud1 |
G |
C |
2: 19,662,951 (GRCm39) |
A27P |
possibly damaging |
Het |
Pcdhga6 |
A |
T |
18: 37,841,479 (GRCm39) |
N400Y |
probably damaging |
Het |
Pdgfd |
T |
C |
9: 6,359,762 (GRCm39) |
S278P |
probably damaging |
Het |
Pdzd7 |
A |
T |
19: 45,028,693 (GRCm39) |
V150E |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,165,667 (GRCm39) |
S754G |
probably benign |
Het |
Phf14 |
A |
G |
6: 11,933,873 (GRCm39) |
|
probably null |
Het |
Phlpp1 |
G |
A |
1: 106,320,327 (GRCm39) |
E1441K |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,214,733 (GRCm39) |
|
probably null |
Het |
Pikfyve |
G |
A |
1: 65,283,579 (GRCm39) |
V739I |
probably damaging |
Het |
Plcg1 |
T |
G |
2: 160,596,357 (GRCm39) |
M651R |
possibly damaging |
Het |
Prex2 |
T |
C |
1: 11,226,588 (GRCm39) |
|
probably benign |
Het |
Pus3 |
G |
C |
9: 35,477,874 (GRCm39) |
G369R |
probably benign |
Het |
Rab11fip1 |
G |
A |
8: 27,642,774 (GRCm39) |
T675I |
probably benign |
Het |
Scarf1 |
T |
C |
11: 75,406,078 (GRCm39) |
C121R |
probably damaging |
Het |
Sco1 |
T |
C |
11: 66,944,605 (GRCm39) |
V76A |
probably damaging |
Het |
Slc39a8 |
T |
A |
3: 135,554,894 (GRCm39) |
C113S |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
Snd1 |
G |
T |
6: 28,531,403 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,960,292 (GRCm39) |
S182G |
probably damaging |
Het |
Tecta |
A |
C |
9: 42,250,329 (GRCm39) |
F1816C |
probably damaging |
Het |
Tekt1 |
T |
C |
11: 72,245,645 (GRCm39) |
N170S |
probably benign |
Het |
Trim47 |
T |
C |
11: 115,998,783 (GRCm39) |
T279A |
probably benign |
Het |
Ttll4 |
A |
G |
1: 74,725,550 (GRCm39) |
K653E |
probably damaging |
Het |
Vcam1 |
T |
C |
3: 115,908,140 (GRCm39) |
T641A |
possibly damaging |
Het |
Vmn1r16 |
A |
G |
6: 57,300,212 (GRCm39) |
F137L |
probably benign |
Het |
Zfp777 |
T |
C |
6: 48,021,149 (GRCm39) |
T158A |
probably benign |
Het |
Zp1 |
T |
C |
19: 10,893,888 (GRCm39) |
D439G |
probably damaging |
Het |
|
Other mutations in Vmn2r17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00325:Vmn2r17
|
APN |
5 |
109,575,858 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01457:Vmn2r17
|
APN |
5 |
109,600,898 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01527:Vmn2r17
|
APN |
5 |
109,601,006 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01693:Vmn2r17
|
APN |
5 |
109,600,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01738:Vmn2r17
|
APN |
5 |
109,577,364 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01767:Vmn2r17
|
APN |
5 |
109,567,903 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01932:Vmn2r17
|
APN |
5 |
109,574,916 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01970:Vmn2r17
|
APN |
5 |
109,575,813 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02009:Vmn2r17
|
APN |
5 |
109,600,714 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02365:Vmn2r17
|
APN |
5 |
109,601,175 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02385:Vmn2r17
|
APN |
5 |
109,582,247 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02457:Vmn2r17
|
APN |
5 |
109,601,012 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02646:Vmn2r17
|
APN |
5 |
109,600,946 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02741:Vmn2r17
|
APN |
5 |
109,568,077 (GRCm39) |
missense |
probably benign |
|
IGL03213:Vmn2r17
|
APN |
5 |
109,582,256 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03216:Vmn2r17
|
APN |
5 |
109,600,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03342:Vmn2r17
|
APN |
5 |
109,575,782 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03408:Vmn2r17
|
APN |
5 |
109,577,238 (GRCm39) |
splice site |
probably benign |
|
R0349:Vmn2r17
|
UTSW |
5 |
109,576,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R0418:Vmn2r17
|
UTSW |
5 |
109,600,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R0800:Vmn2r17
|
UTSW |
5 |
109,575,192 (GRCm39) |
splice site |
probably benign |
|
R0836:Vmn2r17
|
UTSW |
5 |
109,575,822 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1715:Vmn2r17
|
UTSW |
5 |
109,576,110 (GRCm39) |
missense |
probably benign |
0.00 |
R1738:Vmn2r17
|
UTSW |
5 |
109,576,377 (GRCm39) |
missense |
probably benign |
0.10 |
R1801:Vmn2r17
|
UTSW |
5 |
109,576,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Vmn2r17
|
UTSW |
5 |
109,600,352 (GRCm39) |
missense |
probably damaging |
0.98 |
R2060:Vmn2r17
|
UTSW |
5 |
109,575,075 (GRCm39) |
missense |
probably benign |
0.00 |
R2192:Vmn2r17
|
UTSW |
5 |
109,582,144 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2315:Vmn2r17
|
UTSW |
5 |
109,575,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R2374:Vmn2r17
|
UTSW |
5 |
109,575,104 (GRCm39) |
missense |
probably benign |
|
R3612:Vmn2r17
|
UTSW |
5 |
109,577,463 (GRCm39) |
missense |
probably benign |
0.00 |
R4273:Vmn2r17
|
UTSW |
5 |
109,600,832 (GRCm39) |
missense |
probably benign |
0.44 |
R4494:Vmn2r17
|
UTSW |
5 |
109,576,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R4597:Vmn2r17
|
UTSW |
5 |
109,577,428 (GRCm39) |
missense |
probably benign |
0.01 |
R4675:Vmn2r17
|
UTSW |
5 |
109,575,049 (GRCm39) |
missense |
probably benign |
0.00 |
R4701:Vmn2r17
|
UTSW |
5 |
109,575,849 (GRCm39) |
missense |
probably damaging |
0.99 |
R4754:Vmn2r17
|
UTSW |
5 |
109,600,715 (GRCm39) |
missense |
probably damaging |
0.99 |
R4841:Vmn2r17
|
UTSW |
5 |
109,582,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R4842:Vmn2r17
|
UTSW |
5 |
109,582,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Vmn2r17
|
UTSW |
5 |
109,574,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R4902:Vmn2r17
|
UTSW |
5 |
109,601,220 (GRCm39) |
missense |
probably benign |
0.14 |
R4989:Vmn2r17
|
UTSW |
5 |
109,575,739 (GRCm39) |
missense |
probably benign |
0.07 |
R5101:Vmn2r17
|
UTSW |
5 |
109,576,217 (GRCm39) |
missense |
probably damaging |
0.99 |
R5109:Vmn2r17
|
UTSW |
5 |
109,577,342 (GRCm39) |
missense |
probably benign |
0.06 |
R5123:Vmn2r17
|
UTSW |
5 |
109,575,774 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5474:Vmn2r17
|
UTSW |
5 |
109,582,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R5485:Vmn2r17
|
UTSW |
5 |
109,567,972 (GRCm39) |
missense |
probably benign |
0.06 |
R5611:Vmn2r17
|
UTSW |
5 |
109,576,030 (GRCm39) |
missense |
probably damaging |
0.97 |
R5652:Vmn2r17
|
UTSW |
5 |
109,577,430 (GRCm39) |
missense |
probably benign |
0.10 |
R5717:Vmn2r17
|
UTSW |
5 |
109,575,140 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5735:Vmn2r17
|
UTSW |
5 |
109,600,716 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5766:Vmn2r17
|
UTSW |
5 |
109,575,139 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6645:Vmn2r17
|
UTSW |
5 |
109,576,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R6786:Vmn2r17
|
UTSW |
5 |
109,575,695 (GRCm39) |
missense |
probably benign |
0.30 |
R6821:Vmn2r17
|
UTSW |
5 |
109,577,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R6979:Vmn2r17
|
UTSW |
5 |
109,576,265 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6984:Vmn2r17
|
UTSW |
5 |
109,600,533 (GRCm39) |
missense |
probably benign |
0.10 |
R7269:Vmn2r17
|
UTSW |
5 |
109,576,337 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7509:Vmn2r17
|
UTSW |
5 |
109,575,695 (GRCm39) |
missense |
probably benign |
0.30 |
R7736:Vmn2r17
|
UTSW |
5 |
109,600,757 (GRCm39) |
missense |
probably benign |
0.05 |
R7789:Vmn2r17
|
UTSW |
5 |
109,600,831 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7814:Vmn2r17
|
UTSW |
5 |
109,575,739 (GRCm39) |
missense |
probably benign |
0.07 |
R7847:Vmn2r17
|
UTSW |
5 |
109,568,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R7863:Vmn2r17
|
UTSW |
5 |
109,568,035 (GRCm39) |
missense |
probably benign |
|
R7893:Vmn2r17
|
UTSW |
5 |
109,575,944 (GRCm39) |
missense |
probably benign |
0.05 |
R8234:Vmn2r17
|
UTSW |
5 |
109,601,235 (GRCm39) |
missense |
probably benign |
0.01 |
R8382:Vmn2r17
|
UTSW |
5 |
109,576,387 (GRCm39) |
missense |
probably benign |
0.01 |
R8435:Vmn2r17
|
UTSW |
5 |
109,576,172 (GRCm39) |
missense |
probably benign |
0.01 |
R8465:Vmn2r17
|
UTSW |
5 |
109,600,691 (GRCm39) |
missense |
probably damaging |
0.99 |
R8555:Vmn2r17
|
UTSW |
5 |
109,600,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R8900:Vmn2r17
|
UTSW |
5 |
109,575,863 (GRCm39) |
missense |
probably benign |
0.25 |
R9293:Vmn2r17
|
UTSW |
5 |
109,600,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R9308:Vmn2r17
|
UTSW |
5 |
109,600,505 (GRCm39) |
missense |
probably damaging |
0.98 |
R9378:Vmn2r17
|
UTSW |
5 |
109,575,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9597:Vmn2r17
|
UTSW |
5 |
109,575,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACTGTCACTTTTGCACACC -3'
(R):5'- GGGCCATTTATAAGACAACATTGC -3'
Sequencing Primer
(F):5'- GTCACTTTTGCACACCACAATGG -3'
(R):5'- TGAAATGTAAGAACCTTTACCTGCTG -3'
|
Posted On |
2015-04-02 |