Incidental Mutation 'R7975:Vmn2r50'
| ID |
650842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r50
|
| Ensembl Gene |
ENSMUSG00000094606 |
| Gene Name |
vomeronasal 2, receptor 50 |
| Synonyms |
EG434117 |
| MMRRC Submission |
046018-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R7975 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9771272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 810
(I810V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074943]
[ENSMUST00000086298]
|
| AlphaFold |
E9PW61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074943
AA Change: I826V
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: I826V
| 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 benign
Transcript: ENSMUST00000086298
AA Change: I810V
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: I810V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
T |
C |
10: 88,952,847 (GRCm39) |
I60V |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,216,286 (GRCm39) |
M381K |
probably null |
Het |
| Aox1 |
T |
A |
1: 58,348,187 (GRCm39) |
I635K |
probably benign |
Het |
| Bdp1 |
C |
T |
13: 100,156,884 (GRCm39) |
C2436Y |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,973,620 (GRCm39) |
R2565G |
possibly damaging |
Het |
| Brd2 |
A |
T |
17: 34,334,424 (GRCm39) |
I245N |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,325,515 (GRCm39) |
V258M |
probably damaging |
Het |
| Ccar2 |
C |
G |
14: 70,380,918 (GRCm39) |
C324S |
possibly damaging |
Het |
| Cd209b |
A |
T |
8: 3,975,948 (GRCm39) |
I71N |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,111,928 (GRCm39) |
I729F |
unknown |
Het |
| Celf1 |
T |
G |
2: 90,831,423 (GRCm39) |
V84G |
probably damaging |
Het |
| Cgn |
G |
T |
3: 94,671,836 (GRCm39) |
A965E |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,632,604 (GRCm39) |
E249G |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,841 (GRCm39) |
H629R |
|
Het |
| Cyp2j8 |
T |
C |
4: 96,358,776 (GRCm39) |
N381S |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,179,169 (GRCm39) |
D343G |
probably damaging |
Het |
| Fhl5 |
T |
A |
4: 25,214,730 (GRCm39) |
I16F |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,989,781 (GRCm39) |
F143S |
probably damaging |
Het |
| Gbp10 |
C |
T |
5: 105,368,967 (GRCm39) |
G291R |
probably benign |
Het |
| Gm28168 |
T |
C |
1: 117,875,820 (GRCm39) |
Y150H |
probably benign |
Het |
| Gm3543 |
T |
C |
14: 41,802,122 (GRCm39) |
M121V |
probably benign |
Het |
| Gramd2b |
A |
G |
18: 56,618,451 (GRCm39) |
T220A |
probably benign |
Het |
| Gstcd |
A |
G |
3: 132,777,863 (GRCm39) |
L316P |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,282,532 (GRCm39) |
G3424D |
probably benign |
Het |
| Ifi209 |
C |
T |
1: 173,468,722 (GRCm39) |
S184F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,286,948 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
G |
A |
3: 105,366,310 (GRCm39) |
R60H |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,098,911 (GRCm39) |
C1400R |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,670,796 (GRCm39) |
P794L |
probably damaging |
Het |
| Lgals4 |
A |
G |
7: 28,540,346 (GRCm39) |
I214V |
probably benign |
Het |
| Lipo4 |
A |
T |
19: 33,490,028 (GRCm39) |
L158Q |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,066,453 (GRCm39) |
Y58H |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,994,990 (GRCm39) |
S479P |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,127,920 (GRCm39) |
D132V |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,727,666 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,050,678 (GRCm39) |
H6660L |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,360,966 (GRCm39) |
V263E |
probably damaging |
Het |
| Oas1h |
G |
A |
5: 121,009,890 (GRCm39) |
V322M |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,019 (GRCm39) |
Y203* |
probably null |
Het |
| Or2m13 |
T |
A |
16: 19,226,301 (GRCm39) |
D155V |
probably damaging |
Het |
| Or4a15 |
C |
T |
2: 89,193,413 (GRCm39) |
R120H |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,212,705 (GRCm39) |
D1121V |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,537,465 (GRCm39) |
S352P |
probably damaging |
Het |
| Piezo1 |
C |
A |
8: 123,222,504 (GRCm39) |
R915L |
|
Het |
| R3hcc1 |
T |
C |
14: 69,944,593 (GRCm39) |
D7G |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,458,589 (GRCm39) |
K429E |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,501,286 (GRCm39) |
F166S |
probably benign |
Het |
| Scn9a |
T |
G |
2: 66,314,597 (GRCm39) |
N1707T |
probably damaging |
Het |
| Sec23ip |
T |
C |
7: 128,364,201 (GRCm39) |
F493S |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,077,982 (GRCm39) |
I257F |
possibly damaging |
Het |
| Smarcal1 |
T |
A |
1: 72,652,150 (GRCm39) |
D637E |
probably benign |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,639,814 (GRCm39) |
F990L |
probably benign |
Het |
| Spata31h1 |
C |
T |
10: 82,119,823 (GRCm39) |
A4396T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,981,786 (GRCm39) |
T844A |
probably benign |
Het |
| Tph1 |
G |
A |
7: 46,306,678 (GRCm39) |
R145C |
probably damaging |
Het |
| Ubap2l |
G |
A |
3: 89,946,076 (GRCm39) |
|
probably null |
Het |
| Vmn2r59 |
T |
C |
7: 41,693,199 (GRCm39) |
D467G |
probably damaging |
Het |
| Zfp618 |
T |
A |
4: 63,049,352 (GRCm39) |
N417K |
possibly 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 |
|
R5175:Vmn2r50
|
UTSW |
7 |
9,771,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CATCACTAGAGCAACCAGTGAG -3'
(R):5'- TTGGCCAAGAATCTGCCTG -3'
Sequencing Primer
(F):5'- CCAGTGAGAGTGATTCTAAAACTG -3'
(R):5'- TCTGCCTGACACATTCAATGAAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation