Incidental Mutation 'R1801:Vmn2r17'
| ID |
203124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r17
|
| Ensembl Gene |
ENSMUSG00000091879 |
| Gene Name |
vomeronasal 2, receptor 17 |
| Synonyms |
EG384221 |
| MMRRC Submission |
039831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1801 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
109567879-109601253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109576344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 405
(T405K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171841]
|
| AlphaFold |
E9PYF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171841
AA Change: T405K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131450
Gene: ENSMUSG00000091879
AA Change: T405K
| 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 |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,230 (GRCm39) |
E362G |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,157,637 (GRCm39) |
M1307V |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,078,954 (GRCm39) |
C423* |
probably null |
Het |
| Adamts9 |
A |
G |
6: 92,840,357 (GRCm39) |
V1142A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,082,096 (GRCm39) |
N525S |
probably damaging |
Het |
| Bpifa2 |
T |
C |
2: 153,853,424 (GRCm39) |
|
probably null |
Het |
| C7 |
C |
T |
15: 5,041,503 (GRCm39) |
V468I |
possibly damaging |
Het |
| Carf |
A |
T |
1: 60,180,664 (GRCm39) |
H362L |
possibly damaging |
Het |
| Ccdc171 |
A |
C |
4: 83,465,132 (GRCm39) |
I37L |
probably benign |
Het |
| Ccdc182 |
T |
C |
11: 88,185,016 (GRCm39) |
L32P |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,711,825 (GRCm39) |
D1678V |
possibly damaging |
Het |
| Col7a1 |
A |
T |
9: 108,790,065 (GRCm39) |
Y920F |
unknown |
Het |
| Cpsf3 |
T |
C |
12: 21,363,791 (GRCm39) |
V627A |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,941 (GRCm39) |
M640T |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,411,283 (GRCm39) |
D543G |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,123 (GRCm39) |
N2972D |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,813,857 (GRCm39) |
D304G |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,026,705 (GRCm39) |
V1232A |
possibly damaging |
Het |
| Ezr |
T |
C |
17: 7,009,771 (GRCm39) |
T358A |
possibly damaging |
Het |
| Filip1 |
A |
G |
9: 79,723,128 (GRCm39) |
S1164P |
probably damaging |
Het |
| Gmip |
T |
C |
8: 70,267,127 (GRCm39) |
V341A |
probably benign |
Het |
| Gnb3 |
A |
C |
6: 124,812,599 (GRCm39) |
F286V |
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 186,958,028 (GRCm39) |
S128T |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,813 (GRCm39) |
R231G |
possibly damaging |
Het |
| Hip1r |
G |
A |
5: 124,136,871 (GRCm39) |
R613Q |
probably benign |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,206 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,517,625 (GRCm39) |
D275V |
probably damaging |
Het |
| Il4 |
G |
T |
11: 53,509,365 (GRCm39) |
H23Q |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,809,053 (GRCm39) |
Y749C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,506,578 (GRCm39) |
K275R |
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,416,808 (GRCm39) |
R510L |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,628,689 (GRCm39) |
Y345C |
probably damaging |
Het |
| Med15 |
T |
C |
16: 17,498,599 (GRCm39) |
T98A |
possibly damaging |
Het |
| Mmp1a |
T |
A |
9: 7,475,391 (GRCm39) |
Y387N |
probably damaging |
Het |
| Myrf |
C |
A |
19: 10,191,555 (GRCm39) |
V928L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,662,325 (GRCm39) |
K134E |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 90,250,356 (GRCm39) |
D305V |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,889,147 (GRCm39) |
S7542A |
unknown |
Het |
| Or4a27 |
T |
A |
2: 88,559,608 (GRCm39) |
I112F |
probably damaging |
Het |
| Pak4 |
G |
A |
7: 28,264,615 (GRCm39) |
R96C |
probably damaging |
Het |
| Pde6b |
A |
T |
5: 108,575,713 (GRCm39) |
D691V |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,221,601 (GRCm39) |
E171G |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,387,740 (GRCm39) |
V873I |
possibly damaging |
Het |
| Plb1 |
A |
T |
5: 32,450,587 (GRCm39) |
D376V |
probably damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,913,904 (GRCm39) |
Y1209H |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,393,885 (GRCm39) |
C263R |
probably damaging |
Het |
| Psma2 |
A |
T |
13: 14,798,190 (GRCm39) |
Y104F |
probably benign |
Het |
| Ptger4 |
T |
A |
15: 5,272,281 (GRCm39) |
M113L |
possibly damaging |
Het |
| Rgs10 |
T |
G |
7: 128,006,201 (GRCm39) |
D17A |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,592,090 (GRCm39) |
S189P |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,610,167 (GRCm39) |
S655G |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,106,756 (GRCm39) |
|
probably null |
Het |
| Sema4a |
C |
T |
3: 88,344,056 (GRCm39) |
D732N |
probably benign |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,177 (GRCm39) |
D378G |
probably benign |
Het |
| Sh3gl3 |
C |
T |
7: 81,933,327 (GRCm39) |
T230I |
possibly damaging |
Het |
| Slc28a2b |
C |
T |
2: 122,352,133 (GRCm39) |
R324C |
possibly damaging |
Het |
| Slc5a1 |
A |
T |
5: 33,304,297 (GRCm39) |
Q299L |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,939,606 (GRCm39) |
H681N |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,689,360 (GRCm39) |
S10P |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,016,639 (GRCm39) |
|
probably null |
Het |
| Syna |
A |
G |
5: 134,588,943 (GRCm39) |
V2A |
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,141,089 (GRCm39) |
Y299* |
probably null |
Het |
| Tenm3 |
C |
A |
8: 48,729,291 (GRCm39) |
V1572L |
probably benign |
Het |
| Tent4b |
T |
G |
8: 88,977,416 (GRCm39) |
V406G |
probably benign |
Het |
| Trp53rka |
A |
G |
2: 165,333,533 (GRCm39) |
S119P |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,179,874 (GRCm39) |
|
probably null |
Het |
| Uchl4 |
T |
A |
9: 64,142,757 (GRCm39) |
D79E |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,998,564 (GRCm39) |
L228P |
probably damaging |
Het |
| Xrcc4 |
T |
G |
13: 90,140,698 (GRCm39) |
E170D |
probably damaging |
Het |
| Zfp945 |
T |
C |
17: 23,070,736 (GRCm39) |
T388A |
probably damaging |
Het |
| Zfp947 |
G |
A |
17: 22,365,443 (GRCm39) |
A77V |
probably benign |
Het |
| Zkscan5 |
G |
A |
5: 145,157,015 (GRCm39) |
G433R |
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 |
|
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 |
|
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'- ACATTTCTCAGACTATGCAGGAGTG -3'
(R):5'- AACTCACTGGTGTCCACAC -3'
Sequencing Primer
(F):5'- CACATTGGAATGGACAGC -3'
(R):5'- TCTCCTATTAAATGTTATCCTTGTGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation