Incidental Mutation 'R5279:Vmn2r104'
ID |
404142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r104
|
Ensembl Gene |
ENSMUSG00000090315 |
Gene Name |
vomeronasal 2, receptor 104 |
Synonyms |
V2r7 |
MMRRC Submission |
042839-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R5279 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
20249687-20268467 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20262146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 328
(H328L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
AlphaFold |
E9Q2J5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168050
AA Change: H328L
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000129895 Gene: ENSMUSG00000090315 AA Change: H328L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
85 |
457 |
4e-38 |
PFAM |
Pfam:NCD3G
|
512 |
565 |
2.1e-20 |
PFAM |
Pfam:7tm_3
|
598 |
833 |
1.7e-52 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
C |
A |
17: 24,508,388 (GRCm39) |
G1049V |
probably damaging |
Het |
Afdn |
G |
A |
17: 14,109,214 (GRCm39) |
R1579H |
probably damaging |
Het |
Ankrd28 |
T |
A |
14: 31,456,963 (GRCm39) |
N386Y |
probably damaging |
Het |
Atf7ip |
T |
A |
6: 136,580,377 (GRCm39) |
Y1100* |
probably null |
Het |
Atp9b |
T |
A |
18: 80,956,073 (GRCm39) |
E3V |
probably damaging |
Het |
AW554918 |
T |
G |
18: 25,308,488 (GRCm39) |
D60E |
possibly damaging |
Het |
Baz2b |
G |
T |
2: 59,762,496 (GRCm39) |
Q927K |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,957,042 (GRCm39) |
R3659G |
probably damaging |
Het |
C8a |
T |
G |
4: 104,703,185 (GRCm39) |
N291H |
probably damaging |
Het |
Calcoco1 |
G |
A |
15: 102,619,420 (GRCm39) |
L390F |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,739,028 (GRCm39) |
D894G |
probably damaging |
Het |
Cdc20 |
A |
G |
4: 118,290,711 (GRCm39) |
Y430H |
probably damaging |
Het |
Cdc6 |
A |
T |
11: 98,803,088 (GRCm39) |
I316F |
probably damaging |
Het |
Ceacam23 |
T |
A |
7: 17,607,214 (GRCm39) |
|
noncoding transcript |
Het |
Cenpu |
T |
A |
8: 47,031,945 (GRCm39) |
|
probably null |
Het |
Csmd2 |
T |
A |
4: 128,350,707 (GRCm39) |
V1592D |
probably benign |
Het |
Csmd3 |
G |
T |
15: 48,655,340 (GRCm39) |
|
probably null |
Het |
Dnah7c |
T |
C |
1: 46,558,429 (GRCm39) |
F512L |
probably benign |
Het |
Fam136a |
T |
A |
6: 86,343,686 (GRCm39) |
L61Q |
probably damaging |
Het |
Fpgs |
A |
C |
2: 32,582,779 (GRCm39) |
|
probably benign |
Het |
Fzd4 |
G |
A |
7: 89,056,881 (GRCm39) |
M309I |
probably benign |
Het |
Gad2 |
A |
G |
2: 22,563,969 (GRCm39) |
T391A |
probably benign |
Het |
Gm11563 |
A |
T |
11: 99,549,539 (GRCm39) |
S72T |
unknown |
Het |
Gon4l |
A |
G |
3: 88,794,944 (GRCm39) |
I716V |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,457,273 (GRCm39) |
V128A |
probably damaging |
Het |
Kat6a |
CGCAGCAGCAGCAGCAGCA |
CGCAGCAGCAGCA |
8: 23,429,664 (GRCm39) |
|
probably benign |
Het |
Lrrc9 |
T |
A |
12: 72,542,368 (GRCm39) |
D1063E |
possibly damaging |
Het |
Lyst |
T |
A |
13: 13,823,387 (GRCm39) |
L1453* |
probably null |
Het |
Mcm3ap |
T |
C |
10: 76,343,373 (GRCm39) |
V1755A |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,314,869 (GRCm39) |
S985P |
probably damaging |
Het |
Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
Nr2c2ap |
G |
A |
8: 70,584,653 (GRCm39) |
D42N |
probably damaging |
Het |
Ntn1 |
A |
G |
11: 68,276,538 (GRCm39) |
S137P |
probably benign |
Het |
Pard3 |
T |
C |
8: 128,186,867 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,430,015 (GRCm39) |
D1210E |
probably damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,827,774 (GRCm39) |
L74P |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,573,022 (GRCm39) |
|
probably null |
Het |
Pdia3 |
T |
C |
2: 121,244,484 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
A |
T |
1: 65,235,858 (GRCm39) |
R177* |
probably null |
Het |
Pklr |
A |
G |
3: 89,050,566 (GRCm39) |
E409G |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,463,376 (GRCm39) |
Y154H |
probably damaging |
Het |
Psmc3 |
T |
A |
2: 90,884,667 (GRCm39) |
D6E |
probably benign |
Het |
Ptpru |
T |
A |
4: 131,547,334 (GRCm39) |
N205I |
possibly damaging |
Het |
Rbm6 |
T |
C |
9: 107,655,213 (GRCm39) |
E1006G |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,154,922 (GRCm39) |
V642A |
probably benign |
Het |
Rnf8 |
T |
A |
17: 29,845,680 (GRCm39) |
H104Q |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Rpa1 |
T |
C |
11: 75,204,170 (GRCm39) |
N269S |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,757,857 (GRCm39) |
M519T |
probably benign |
Het |
Snx30 |
A |
G |
4: 59,885,070 (GRCm39) |
S237G |
probably benign |
Het |
Spx |
A |
G |
6: 142,359,766 (GRCm39) |
N36S |
probably damaging |
Het |
Stard7 |
T |
C |
2: 127,137,416 (GRCm39) |
Y289H |
probably damaging |
Het |
Sugp2 |
T |
C |
8: 70,709,757 (GRCm39) |
|
probably benign |
Het |
Susd4 |
C |
T |
1: 182,715,043 (GRCm39) |
T288I |
probably damaging |
Het |
Tceanc2 |
T |
A |
4: 107,034,826 (GRCm39) |
|
probably null |
Het |
Tm4sf4 |
T |
G |
3: 57,341,159 (GRCm39) |
V97G |
probably benign |
Het |
Tmtc1 |
C |
T |
6: 148,256,629 (GRCm39) |
|
probably benign |
Het |
Trappc11 |
C |
T |
8: 47,958,339 (GRCm39) |
|
probably benign |
Het |
Triobp |
G |
T |
15: 78,878,591 (GRCm39) |
V398F |
possibly damaging |
Het |
Ttll9 |
T |
A |
2: 152,804,464 (GRCm39) |
S2T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,731,320 (GRCm39) |
|
probably benign |
Het |
Tyw3 |
A |
G |
3: 154,300,108 (GRCm39) |
C80R |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,242,621 (GRCm39) |
V1177A |
possibly damaging |
Het |
Vmn1r65 |
A |
G |
7: 6,011,754 (GRCm39) |
V160A |
probably damaging |
Het |
Vmn2r65 |
A |
C |
7: 84,589,849 (GRCm39) |
I689S |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,731,129 (GRCm39) |
Y1068H |
probably damaging |
Het |
Xpo4 |
C |
A |
14: 57,850,866 (GRCm39) |
S346I |
probably benign |
Het |
Zc3h3 |
T |
A |
15: 75,711,439 (GRCm39) |
T341S |
probably benign |
Het |
Zxdc |
T |
C |
6: 90,347,419 (GRCm39) |
M260T |
possibly damaging |
Het |
|
Other mutations in Vmn2r104 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Vmn2r104
|
APN |
17 |
20,258,501 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01098:Vmn2r104
|
APN |
17 |
20,268,358 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01333:Vmn2r104
|
APN |
17 |
20,263,055 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01527:Vmn2r104
|
APN |
17 |
20,263,158 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01773:Vmn2r104
|
APN |
17 |
20,260,930 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01939:Vmn2r104
|
APN |
17 |
20,250,187 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02121:Vmn2r104
|
APN |
17 |
20,262,056 (GRCm39) |
nonsense |
probably null |
|
IGL02305:Vmn2r104
|
APN |
17 |
20,263,118 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02374:Vmn2r104
|
APN |
17 |
20,263,048 (GRCm39) |
missense |
probably benign |
0.34 |
IGL03260:Vmn2r104
|
APN |
17 |
20,263,083 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03366:Vmn2r104
|
APN |
17 |
20,249,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R0091:Vmn2r104
|
UTSW |
17 |
20,262,075 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0125:Vmn2r104
|
UTSW |
17 |
20,250,069 (GRCm39) |
missense |
probably damaging |
0.98 |
R0257:Vmn2r104
|
UTSW |
17 |
20,249,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R0381:Vmn2r104
|
UTSW |
17 |
20,268,264 (GRCm39) |
nonsense |
probably null |
|
R0709:Vmn2r104
|
UTSW |
17 |
20,263,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R0786:Vmn2r104
|
UTSW |
17 |
20,262,987 (GRCm39) |
missense |
probably benign |
|
R1575:Vmn2r104
|
UTSW |
17 |
20,262,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Vmn2r104
|
UTSW |
17 |
20,262,497 (GRCm39) |
missense |
probably damaging |
0.97 |
R1932:Vmn2r104
|
UTSW |
17 |
20,261,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R1956:Vmn2r104
|
UTSW |
17 |
20,262,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R2203:Vmn2r104
|
UTSW |
17 |
20,250,083 (GRCm39) |
missense |
probably benign |
0.05 |
R2205:Vmn2r104
|
UTSW |
17 |
20,250,083 (GRCm39) |
missense |
probably benign |
0.05 |
R2859:Vmn2r104
|
UTSW |
17 |
20,268,455 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3701:Vmn2r104
|
UTSW |
17 |
20,249,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R3834:Vmn2r104
|
UTSW |
17 |
20,250,183 (GRCm39) |
missense |
probably benign |
0.02 |
R4151:Vmn2r104
|
UTSW |
17 |
20,250,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R4470:Vmn2r104
|
UTSW |
17 |
20,262,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R4625:Vmn2r104
|
UTSW |
17 |
20,268,443 (GRCm39) |
missense |
probably benign |
0.00 |
R4754:Vmn2r104
|
UTSW |
17 |
20,261,030 (GRCm39) |
nonsense |
probably null |
|
R4911:Vmn2r104
|
UTSW |
17 |
20,250,288 (GRCm39) |
missense |
probably benign |
0.00 |
R5270:Vmn2r104
|
UTSW |
17 |
20,258,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R5311:Vmn2r104
|
UTSW |
17 |
20,250,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R5370:Vmn2r104
|
UTSW |
17 |
20,250,450 (GRCm39) |
missense |
probably damaging |
0.97 |
R5461:Vmn2r104
|
UTSW |
17 |
20,250,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R5683:Vmn2r104
|
UTSW |
17 |
20,260,981 (GRCm39) |
nonsense |
probably null |
|
R5795:Vmn2r104
|
UTSW |
17 |
20,250,372 (GRCm39) |
missense |
probably benign |
0.02 |
R5795:Vmn2r104
|
UTSW |
17 |
20,250,544 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5970:Vmn2r104
|
UTSW |
17 |
20,249,733 (GRCm39) |
missense |
probably benign |
0.01 |
R5983:Vmn2r104
|
UTSW |
17 |
20,261,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R5992:Vmn2r104
|
UTSW |
17 |
20,249,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R6066:Vmn2r104
|
UTSW |
17 |
20,258,573 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6156:Vmn2r104
|
UTSW |
17 |
20,261,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R6182:Vmn2r104
|
UTSW |
17 |
20,250,507 (GRCm39) |
missense |
probably benign |
0.16 |
R6245:Vmn2r104
|
UTSW |
17 |
20,261,829 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6333:Vmn2r104
|
UTSW |
17 |
20,249,848 (GRCm39) |
missense |
probably benign |
0.30 |
R6573:Vmn2r104
|
UTSW |
17 |
20,262,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7101:Vmn2r104
|
UTSW |
17 |
20,250,358 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7123:Vmn2r104
|
UTSW |
17 |
20,261,088 (GRCm39) |
missense |
probably benign |
0.12 |
R7485:Vmn2r104
|
UTSW |
17 |
20,249,737 (GRCm39) |
missense |
probably benign |
0.01 |
R7514:Vmn2r104
|
UTSW |
17 |
20,249,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R7634:Vmn2r104
|
UTSW |
17 |
20,261,971 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7958:Vmn2r104
|
UTSW |
17 |
20,262,988 (GRCm39) |
missense |
probably benign |
|
R8031:Vmn2r104
|
UTSW |
17 |
20,263,048 (GRCm39) |
missense |
probably benign |
0.34 |
R8094:Vmn2r104
|
UTSW |
17 |
20,250,483 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8191:Vmn2r104
|
UTSW |
17 |
20,250,465 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8308:Vmn2r104
|
UTSW |
17 |
20,261,040 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8691:Vmn2r104
|
UTSW |
17 |
20,262,110 (GRCm39) |
missense |
probably damaging |
0.98 |
R8795:Vmn2r104
|
UTSW |
17 |
20,262,988 (GRCm39) |
missense |
probably benign |
|
R8900:Vmn2r104
|
UTSW |
17 |
20,261,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R8913:Vmn2r104
|
UTSW |
17 |
20,249,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R9180:Vmn2r104
|
UTSW |
17 |
20,263,087 (GRCm39) |
missense |
probably benign |
0.00 |
R9199:Vmn2r104
|
UTSW |
17 |
20,262,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R9282:Vmn2r104
|
UTSW |
17 |
20,261,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R9303:Vmn2r104
|
UTSW |
17 |
20,268,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9305:Vmn2r104
|
UTSW |
17 |
20,268,439 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9322:Vmn2r104
|
UTSW |
17 |
20,263,087 (GRCm39) |
missense |
probably benign |
0.00 |
R9325:Vmn2r104
|
UTSW |
17 |
20,268,433 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9414:Vmn2r104
|
UTSW |
17 |
20,250,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R9785:Vmn2r104
|
UTSW |
17 |
20,268,409 (GRCm39) |
missense |
probably benign |
|
RF007:Vmn2r104
|
UTSW |
17 |
20,268,302 (GRCm39) |
missense |
probably benign |
0.36 |
Z1177:Vmn2r104
|
UTSW |
17 |
20,250,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCATTGTAAATGTTTGTGCTCTC -3'
(R):5'- AAATGATCCCAGCCACATGG -3'
Sequencing Primer
(F):5'- TGACAACATCAAATATGAAACTGGG -3'
(R):5'- GCCACATGGACCTCATATTTTACTAG -3'
|
Posted On |
2016-07-22 |