Incidental Mutation 'R7789:Vmn2r17'
ID |
599724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r17
|
Ensembl Gene |
ENSMUSG00000091879 |
Gene Name |
vomeronasal 2, receptor 17 |
Synonyms |
EG384221 |
MMRRC Submission |
045845-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R7789 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
109567879-109601253 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109600831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 710
(C710S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171841]
|
AlphaFold |
E9PYF5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171841
AA Change: C710S
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000131450 Gene: ENSMUSG00000091879 AA Change: C710S
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 |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
A |
16: 4,682,175 (GRCm39) |
E163K |
probably benign |
Het |
Adam34 |
T |
A |
8: 44,105,488 (GRCm39) |
R52S |
probably benign |
Het |
Adcy8 |
A |
T |
15: 64,743,623 (GRCm39) |
C328* |
probably null |
Het |
Ankrd26 |
G |
T |
6: 118,504,760 (GRCm39) |
S716R |
possibly damaging |
Het |
Ankrd26 |
G |
T |
6: 118,504,759 (GRCm39) |
H717N |
probably damaging |
Het |
Ankrd40 |
C |
A |
11: 94,225,535 (GRCm39) |
P189T |
probably damaging |
Het |
Anln |
A |
G |
9: 22,263,333 (GRCm39) |
S113P |
|
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Asxl1 |
C |
T |
2: 153,241,943 (GRCm39) |
T832I |
probably benign |
Het |
Bicd2 |
C |
T |
13: 49,533,135 (GRCm39) |
R574C |
probably damaging |
Het |
Boll |
T |
C |
1: 55,399,826 (GRCm39) |
|
probably null |
Het |
Casr |
A |
G |
16: 36,315,653 (GRCm39) |
F806L |
probably damaging |
Het |
Casz1 |
C |
A |
4: 149,013,863 (GRCm39) |
N142K |
probably benign |
Het |
Cbl |
C |
T |
9: 44,074,764 (GRCm39) |
D433N |
probably damaging |
Het |
Ceacam14 |
T |
A |
7: 17,548,096 (GRCm39) |
V62D |
probably damaging |
Het |
Chst10 |
T |
C |
1: 38,923,532 (GRCm39) |
N18S |
probably benign |
Het |
Cyp2j6 |
C |
T |
4: 96,433,953 (GRCm39) |
R119H |
probably benign |
Het |
Cyp4a14 |
C |
G |
4: 115,352,107 (GRCm39) |
V102L |
probably benign |
Het |
Dnajb3 |
A |
T |
1: 88,133,399 (GRCm39) |
M1K |
probably null |
Het |
Dnajc6 |
A |
T |
4: 101,475,729 (GRCm39) |
K534M |
possibly damaging |
Het |
Dnase2a |
T |
C |
8: 85,635,505 (GRCm39) |
|
probably null |
Het |
Dock10 |
A |
G |
1: 80,536,930 (GRCm39) |
I985T |
possibly damaging |
Het |
Emsy |
G |
T |
7: 98,270,696 (GRCm39) |
P436Q |
probably damaging |
Het |
Enpp1 |
A |
T |
10: 24,529,981 (GRCm39) |
|
probably null |
Het |
Erc1 |
T |
A |
6: 119,750,670 (GRCm39) |
R353* |
probably null |
Het |
Fbn2 |
T |
A |
18: 58,172,385 (GRCm39) |
D2140V |
probably benign |
Het |
Fgfr1 |
T |
A |
8: 26,052,329 (GRCm39) |
Y218* |
probably null |
Het |
Fhod1 |
C |
T |
8: 106,056,740 (GRCm39) |
R1045H |
probably damaging |
Het |
Focad |
G |
T |
4: 88,147,643 (GRCm39) |
L427F |
unknown |
Het |
Gbf1 |
T |
A |
19: 46,242,441 (GRCm39) |
L144M |
probably damaging |
Het |
Glmn |
T |
G |
5: 107,696,941 (GRCm39) |
N592T |
probably benign |
Het |
Golgb1 |
C |
G |
16: 36,695,761 (GRCm39) |
P87A |
unknown |
Het |
H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
Insyn2b |
T |
A |
11: 34,352,537 (GRCm39) |
M193K |
probably benign |
Het |
Itga9 |
T |
G |
9: 118,487,564 (GRCm39) |
F216V |
possibly damaging |
Het |
Klhl18 |
T |
C |
9: 110,268,076 (GRCm39) |
D149G |
unknown |
Het |
Lcat |
C |
T |
8: 106,668,857 (GRCm39) |
V114M |
probably benign |
Het |
Lrrc8c |
C |
A |
5: 105,755,066 (GRCm39) |
N280K |
probably damaging |
Het |
Mettl8 |
T |
C |
2: 70,796,806 (GRCm39) |
Y283C |
probably damaging |
Het |
Mgat4a |
A |
T |
1: 37,529,360 (GRCm39) |
I173K |
probably damaging |
Het |
Mmp1a |
T |
C |
9: 7,475,266 (GRCm39) |
V345A |
possibly damaging |
Het |
Mok |
T |
A |
12: 110,778,261 (GRCm39) |
H215L |
probably damaging |
Het |
Mphosph9 |
C |
G |
5: 124,453,650 (GRCm39) |
E221Q |
probably damaging |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
Myom1 |
A |
G |
17: 71,424,431 (GRCm39) |
T1525A |
probably benign |
Het |
Nap1l1 |
C |
T |
10: 111,326,317 (GRCm39) |
S143L |
probably benign |
Het |
Or1af1 |
C |
T |
2: 37,109,672 (GRCm39) |
T57I |
probably benign |
Het |
Or2j6 |
A |
T |
7: 139,980,610 (GRCm39) |
Y116* |
probably null |
Het |
Or52d1 |
T |
A |
7: 103,756,195 (GRCm39) |
S236R |
probably damaging |
Het |
Or7g29 |
G |
T |
9: 19,286,361 (GRCm39) |
T272K |
probably benign |
Het |
Plbd2 |
T |
C |
5: 120,623,819 (GRCm39) |
S568G |
probably damaging |
Het |
Plxna4 |
T |
A |
6: 32,183,168 (GRCm39) |
|
probably null |
Het |
Plxnc1 |
T |
A |
10: 94,630,339 (GRCm39) |
E1520V |
probably damaging |
Het |
Ppil3 |
G |
A |
1: 58,473,538 (GRCm39) |
T104I |
possibly damaging |
Het |
Ptprm |
A |
T |
17: 67,402,534 (GRCm39) |
V118E |
probably damaging |
Het |
Rimbp2 |
T |
C |
5: 128,851,399 (GRCm39) |
D849G |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,361,045 (GRCm39) |
|
probably null |
Het |
Sema3f |
T |
A |
9: 107,582,631 (GRCm39) |
K37N |
probably benign |
Het |
Sh3glb1 |
G |
T |
3: 144,397,892 (GRCm39) |
|
probably null |
Het |
Sh3rf3 |
A |
G |
10: 58,922,637 (GRCm39) |
D571G |
probably benign |
Het |
Sipa1l3 |
T |
C |
7: 29,077,150 (GRCm39) |
Y874C |
probably damaging |
Het |
Smchd1 |
G |
A |
17: 71,782,296 (GRCm39) |
|
probably benign |
Het |
Snrnp70 |
A |
T |
7: 45,026,045 (GRCm39) |
Y441* |
probably null |
Het |
Ssrp1 |
C |
T |
2: 84,871,525 (GRCm39) |
R316W |
probably damaging |
Het |
Syt10 |
A |
T |
15: 89,711,101 (GRCm39) |
V144E |
probably damaging |
Het |
Tdrd12 |
A |
G |
7: 35,188,117 (GRCm39) |
L562P |
|
Het |
Trim68 |
T |
C |
7: 102,333,676 (GRCm39) |
D2G |
possibly damaging |
Het |
Trub2 |
T |
A |
2: 29,667,920 (GRCm39) |
H240L |
probably damaging |
Het |
Tssc4 |
A |
G |
7: 142,623,515 (GRCm39) |
|
probably null |
Het |
Usp7 |
T |
A |
16: 8,516,675 (GRCm39) |
Q539L |
probably benign |
Het |
Vmn2r99 |
G |
T |
17: 19,614,079 (GRCm39) |
V600F |
possibly damaging |
Het |
Vps13d |
C |
T |
4: 144,826,635 (GRCm39) |
V2879M |
|
Het |
Vrtn |
T |
A |
12: 84,697,080 (GRCm39) |
M610K |
probably benign |
Het |
Xpo4 |
T |
C |
14: 57,850,806 (GRCm39) |
E366G |
probably benign |
Het |
Zyg11a |
G |
A |
4: 108,040,845 (GRCm39) |
P703S |
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 |
R3832:Vmn2r17
|
UTSW |
5 |
109,576,262 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ATCCTACAGCAGACCACATTTG -3'
(R):5'- TGCTGAACGTTAGGAACTTGGC -3'
Sequencing Primer
(F):5'- CATTTGGAGTATTTTTCACAGTAGCC -3'
(R):5'- GCTTCATTGAATCTGTCAGGAAG -3'
|
Posted On |
2019-11-26 |