Incidental Mutation 'R5175:Vmn2r50'
| ID |
399140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r50
|
| Ensembl Gene |
ENSMUSG00000094606 |
| Gene Name |
vomeronasal 2, receptor 50 |
| Synonyms |
EG434117 |
| MMRRC Submission |
042755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5175 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9771644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 686
(I686F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074943]
[ENSMUST00000086298]
|
| AlphaFold |
E9PW61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074943
AA Change: I702F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: I702F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
1.4e-32 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
2.9e-20 |
PFAM |
|
Pfam:7tm_3
|
597 |
833 |
1.3e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086298
AA Change: I686F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: I686F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
452 |
7e-31 |
PFAM |
|
Pfam:NCD3G
|
496 |
549 |
5.3e-19 |
PFAM |
|
Pfam:7tm_3
|
579 |
818 |
3.9e-78 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr2 |
A |
C |
11: 20,030,114 (GRCm39) |
M215R |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,996,067 (GRCm39) |
I354K |
possibly damaging |
Het |
| Angel2 |
T |
A |
1: 190,673,081 (GRCm39) |
C72* |
probably null |
Het |
| Ank2 |
T |
A |
3: 126,797,673 (GRCm39) |
H679L |
probably damaging |
Het |
| Anks1 |
A |
T |
17: 28,261,562 (GRCm39) |
Q694L |
probably damaging |
Het |
| Aox3 |
C |
T |
1: 58,211,487 (GRCm39) |
P1015S |
probably benign |
Het |
| Arhgap35 |
C |
A |
7: 16,296,524 (GRCm39) |
R847L |
probably damaging |
Het |
| Bag4 |
C |
A |
8: 26,258,379 (GRCm39) |
C316F |
probably damaging |
Het |
| Camkv |
T |
A |
9: 107,824,581 (GRCm39) |
I258N |
probably damaging |
Het |
| Cpt1c |
G |
A |
7: 44,620,781 (GRCm39) |
A28V |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,452 (GRCm39) |
M219K |
possibly damaging |
Het |
| Dclk1 |
G |
T |
3: 55,154,648 (GRCm39) |
R26L |
possibly damaging |
Het |
| Diras2 |
A |
T |
13: 52,662,007 (GRCm39) |
I100N |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,448,550 (GRCm39) |
N4204K |
probably damaging |
Het |
| Dnase1l3 |
T |
A |
14: 7,987,386 (GRCm38) |
K55* |
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,084,468 (GRCm39) |
T819A |
probably damaging |
Het |
| Elfn2 |
A |
T |
15: 78,558,073 (GRCm39) |
L158H |
probably damaging |
Het |
| Erp44 |
T |
C |
4: 48,196,823 (GRCm39) |
T367A |
probably benign |
Het |
| Fasn |
A |
T |
11: 120,707,195 (GRCm39) |
D843E |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,493,631 (GRCm39) |
Y20C |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,422,126 (GRCm39) |
G108E |
probably damaging |
Het |
| Fndc7 |
C |
T |
3: 108,776,482 (GRCm39) |
V520I |
probably benign |
Het |
| Gm17019 |
A |
G |
5: 15,082,817 (GRCm39) |
W46R |
possibly damaging |
Het |
| Gorab |
G |
T |
1: 163,214,214 (GRCm39) |
Q239K |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,543,438 (GRCm39) |
T76A |
probably benign |
Het |
| Hnrnpll |
A |
C |
17: 80,341,499 (GRCm39) |
C513W |
possibly damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,467,824 (GRCm39) |
L170P |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,386,106 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
T |
C |
3: 89,516,746 (GRCm39) |
F385S |
probably damaging |
Het |
| Kif18a |
T |
G |
2: 109,133,323 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,741,547 (GRCm39) |
K559R |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,524 (GRCm39) |
C113R |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,387,649 (GRCm39) |
N535S |
probably damaging |
Het |
| Myh15 |
T |
G |
16: 48,889,789 (GRCm39) |
W127G |
possibly damaging |
Het |
| Npsr1 |
A |
G |
9: 24,046,111 (GRCm39) |
R77G |
probably benign |
Het |
| Nub1 |
T |
A |
5: 24,907,446 (GRCm39) |
S376R |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,062,254 (GRCm39) |
V228A |
probably benign |
Het |
| Or4d10c |
G |
A |
19: 12,065,926 (GRCm39) |
P77S |
probably damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,771 (GRCm39) |
I216N |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,301 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or9i2 |
G |
A |
19: 13,815,680 (GRCm39) |
P286S |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,125,879 (GRCm39) |
L97P |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,504,684 (GRCm39) |
Y831H |
probably damaging |
Het |
| Plcz1 |
T |
G |
6: 139,985,389 (GRCm39) |
I51L |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,915,516 (GRCm39) |
|
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,777,713 (GRCm39) |
S124T |
probably benign |
Het |
| Prkag1 |
A |
C |
15: 98,713,596 (GRCm39) |
V33G |
possibly damaging |
Het |
| Rab25 |
T |
A |
3: 88,450,728 (GRCm39) |
Y57F |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,545 (GRCm39) |
I638V |
probably benign |
Het |
| Rest |
C |
A |
5: 77,416,219 (GRCm39) |
D144E |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,505,151 (GRCm39) |
D260G |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,560,467 (GRCm39) |
V425A |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,863,086 (GRCm39) |
M15K |
probably damaging |
Het |
| Slc22a17 |
A |
G |
14: 55,144,748 (GRCm39) |
L555P |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,595,719 (GRCm39) |
D282G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,748,284 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
C |
T |
5: 77,164,317 (GRCm39) |
P107S |
probably benign |
Het |
| Srcin1 |
A |
G |
11: 97,464,703 (GRCm39) |
W15R |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,870,860 (GRCm39) |
T259A |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,938,465 (GRCm39) |
F741S |
probably damaging |
Het |
| Vasp |
C |
A |
7: 18,998,594 (GRCm39) |
M54I |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,153 (GRCm39) |
H273L |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,877,915 (GRCm39) |
E494G |
probably benign |
Het |
| Zfp788 |
A |
G |
7: 41,298,753 (GRCm39) |
E443G |
probably damaging |
Het |
|
| Other mutations in Vmn2r50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01536:Vmn2r50
|
APN |
7 |
9,771,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01739:Vmn2r50
|
APN |
7 |
9,771,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Vmn2r50
|
APN |
7 |
9,787,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02358:Vmn2r50
|
APN |
7 |
9,787,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02871:Vmn2r50
|
APN |
7 |
9,781,714 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02962:Vmn2r50
|
APN |
7 |
9,784,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03187:Vmn2r50
|
APN |
7 |
9,771,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Vmn2r50
|
APN |
7 |
9,779,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4651001:Vmn2r50
|
UTSW |
7 |
9,771,659 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0530:Vmn2r50
|
UTSW |
7 |
9,781,644 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1291:Vmn2r50
|
UTSW |
7 |
9,771,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1438:Vmn2r50
|
UTSW |
7 |
9,784,062 (GRCm39) |
nonsense |
probably null |
|
|
R1713:Vmn2r50
|
UTSW |
7 |
9,771,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Vmn2r50
|
UTSW |
7 |
9,781,605 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1750:Vmn2r50
|
UTSW |
7 |
9,786,915 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1918:Vmn2r50
|
UTSW |
7 |
9,781,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2435:Vmn2r50
|
UTSW |
7 |
9,787,026 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2511:Vmn2r50
|
UTSW |
7 |
9,781,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3795:Vmn2r50
|
UTSW |
7 |
9,771,851 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4156:Vmn2r50
|
UTSW |
7 |
9,774,309 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4332:Vmn2r50
|
UTSW |
7 |
9,786,922 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4399:Vmn2r50
|
UTSW |
7 |
9,781,834 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4411:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4412:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4413:Vmn2r50
|
UTSW |
7 |
9,784,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4645:Vmn2r50
|
UTSW |
7 |
9,771,162 (GRCm39) |
makesense |
probably null |
|
|
R5151:Vmn2r50
|
UTSW |
7 |
9,786,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5291:Vmn2r50
|
UTSW |
7 |
9,781,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Vmn2r50
|
UTSW |
7 |
9,781,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5559:Vmn2r50
|
UTSW |
7 |
9,771,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Vmn2r50
|
UTSW |
7 |
9,784,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5711:Vmn2r50
|
UTSW |
7 |
9,774,299 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5759:Vmn2r50
|
UTSW |
7 |
9,781,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Vmn2r50
|
UTSW |
7 |
9,783,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6394:Vmn2r50
|
UTSW |
7 |
9,774,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6995:Vmn2r50
|
UTSW |
7 |
9,779,964 (GRCm39) |
nonsense |
probably null |
|
|
R6998:Vmn2r50
|
UTSW |
7 |
9,771,684 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7019:Vmn2r50
|
UTSW |
7 |
9,784,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7027:Vmn2r50
|
UTSW |
7 |
9,781,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Vmn2r50
|
UTSW |
7 |
9,787,010 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7343:Vmn2r50
|
UTSW |
7 |
9,784,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7554:Vmn2r50
|
UTSW |
7 |
9,784,066 (GRCm39) |
missense |
probably null |
0.00 |
|
R7704:Vmn2r50
|
UTSW |
7 |
9,781,665 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7768:Vmn2r50
|
UTSW |
7 |
9,771,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7773:Vmn2r50
|
UTSW |
7 |
9,771,562 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7975:Vmn2r50
|
UTSW |
7 |
9,771,272 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7987:Vmn2r50
|
UTSW |
7 |
9,772,016 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7996:Vmn2r50
|
UTSW |
7 |
9,781,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8062:Vmn2r50
|
UTSW |
7 |
9,774,240 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8396:Vmn2r50
|
UTSW |
7 |
9,781,639 (GRCm39) |
nonsense |
probably null |
|
|
R8466:Vmn2r50
|
UTSW |
7 |
9,783,997 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8985:Vmn2r50
|
UTSW |
7 |
9,779,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Vmn2r50
|
UTSW |
7 |
9,772,061 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9155:Vmn2r50
|
UTSW |
7 |
9,781,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9238:Vmn2r50
|
UTSW |
7 |
9,781,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9576:Vmn2r50
|
UTSW |
7 |
9,771,190 (GRCm39) |
missense |
probably benign |
|
|
R9626:Vmn2r50
|
UTSW |
7 |
9,771,960 (GRCm39) |
nonsense |
probably null |
|
|
R9631:Vmn2r50
|
UTSW |
7 |
9,786,990 (GRCm39) |
nonsense |
probably null |
|
|
X0067:Vmn2r50
|
UTSW |
7 |
9,786,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Vmn2r50
|
UTSW |
7 |
9,780,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Vmn2r50
|
UTSW |
7 |
9,771,427 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCAGGCAGATTCTTGGC -3'
(R):5'- TCTTCATTGGCCATCCTAACAG -3'
Sequencing Primer
(F):5'- TGAAGCTTCCAAGTGCCAG -3'
(R):5'- TAACAGAGCCACCTGTGTCTTAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation