Incidental Mutation 'R9626:Vmn2r50'
ID |
725146 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r50
|
Ensembl Gene |
ENSMUSG00000094606 |
Gene Name |
vomeronasal 2, receptor 50 |
Synonyms |
EG434117 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R9626 (G1)
|
Quality Score |
153.008 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 9771960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 580
(C580*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074943]
[ENSMUST00000086298]
|
AlphaFold |
E9PW61 |
Predicted Effect |
probably null
Transcript: ENSMUST00000074943
AA Change: C596*
|
SMART Domains |
Protein: ENSMUSP00000074476 Gene: ENSMUSG00000094606 AA Change: C596*
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 null
Transcript: ENSMUST00000086298
AA Change: C580*
|
SMART Domains |
Protein: ENSMUSP00000083478 Gene: ENSMUSG00000094606 AA Change: C580*
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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,127,502 (GRCm39) |
N37I |
unknown |
Het |
Abca9 |
T |
A |
11: 110,011,606 (GRCm39) |
T1146S |
probably benign |
Het |
Acnat2 |
G |
A |
4: 49,380,179 (GRCm39) |
H400Y |
probably damaging |
Het |
Adgrd1 |
T |
C |
5: 129,275,721 (GRCm39) |
S768P |
probably damaging |
Het |
Arap2 |
T |
A |
5: 62,906,878 (GRCm39) |
H47L |
probably benign |
Het |
Atxn1 |
T |
A |
13: 45,710,796 (GRCm39) |
N712I |
possibly damaging |
Het |
Bri3bp |
T |
A |
5: 125,531,572 (GRCm39) |
S173T |
probably damaging |
Het |
Camta1 |
A |
T |
4: 151,168,287 (GRCm39) |
S254R |
probably damaging |
Het |
Card9 |
T |
C |
2: 26,247,294 (GRCm39) |
E285G |
probably benign |
Het |
Celf2 |
G |
A |
2: 6,590,835 (GRCm39) |
A320V |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,726,521 (GRCm39) |
I3250T |
probably damaging |
Het |
Cfap46 |
C |
T |
7: 139,230,805 (GRCm39) |
R941H |
|
Het |
Cntrob |
T |
C |
11: 69,202,167 (GRCm39) |
H475R |
possibly damaging |
Het |
Dcaf6 |
G |
A |
1: 165,227,264 (GRCm39) |
R288* |
probably null |
Het |
Ebna1bp2 |
G |
A |
4: 118,478,371 (GRCm39) |
|
probably benign |
Het |
Erich3 |
A |
T |
3: 154,444,730 (GRCm39) |
D302V |
probably benign |
Het |
Fbxo48 |
T |
A |
11: 16,904,333 (GRCm39) |
*162K |
probably null |
Het |
Fyttd1 |
T |
C |
16: 32,725,915 (GRCm39) |
L290S |
probably damaging |
Het |
Gcc1 |
T |
C |
6: 28,418,917 (GRCm39) |
D472G |
probably damaging |
Het |
Gjb4 |
C |
T |
4: 127,246,081 (GRCm39) |
|
probably benign |
Het |
Gm5157 |
G |
T |
7: 20,919,396 (GRCm39) |
T49K |
probably damaging |
Het |
Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
Hnrnpm |
G |
T |
17: 33,896,264 (GRCm39) |
D88E |
probably damaging |
Het |
Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
Hunk |
C |
T |
16: 90,272,791 (GRCm39) |
T365M |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,354,669 (GRCm39) |
D972G |
probably benign |
Het |
Mamdc4 |
A |
G |
2: 25,458,273 (GRCm39) |
L379P |
probably damaging |
Het |
Mcrs1 |
A |
G |
15: 99,146,353 (GRCm39) |
L179P |
probably damaging |
Het |
Mterf2 |
C |
T |
10: 84,956,295 (GRCm39) |
A110T |
probably benign |
Het |
Mucl1 |
A |
G |
15: 103,783,934 (GRCm39) |
S91P |
possibly damaging |
Het |
Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
Ndst4 |
A |
C |
3: 125,476,829 (GRCm39) |
D18A |
probably damaging |
Het |
Ndufv1 |
A |
T |
19: 4,058,064 (GRCm39) |
C382* |
probably null |
Het |
Npc1l1 |
T |
C |
11: 6,177,854 (GRCm39) |
K519E |
probably benign |
Het |
Nphs1 |
A |
G |
7: 30,166,991 (GRCm39) |
K747E |
probably benign |
Het |
Nubp2 |
C |
G |
17: 25,103,374 (GRCm39) |
|
probably null |
Het |
Odad2 |
G |
T |
18: 7,211,422 (GRCm39) |
C817* |
probably null |
Het |
Or13a19 |
T |
C |
7: 139,903,236 (GRCm39) |
V208A |
probably benign |
Het |
Or5b97 |
A |
T |
19: 12,878,600 (GRCm39) |
D181E |
possibly damaging |
Het |
Or7a36 |
T |
G |
10: 78,820,213 (GRCm39) |
D196E |
probably benign |
Het |
Or7a40 |
A |
G |
16: 16,491,491 (GRCm39) |
M118T |
probably damaging |
Het |
Or8b48 |
A |
G |
9: 38,492,977 (GRCm39) |
T135A |
probably benign |
Het |
Pcdhac2 |
T |
G |
18: 37,279,555 (GRCm39) |
L845R |
probably damaging |
Het |
Pcdhb14 |
A |
C |
18: 37,581,787 (GRCm39) |
T298P |
probably damaging |
Het |
Phldb2 |
A |
T |
16: 45,592,547 (GRCm39) |
L957Q |
possibly damaging |
Het |
Pole |
A |
G |
5: 110,459,959 (GRCm39) |
D1121G |
possibly damaging |
Het |
Ppp1r3g |
C |
A |
13: 36,153,612 (GRCm39) |
T344K |
probably benign |
Het |
Prpf8 |
A |
G |
11: 75,385,681 (GRCm39) |
K954R |
possibly damaging |
Het |
Prr15l |
C |
A |
11: 96,825,440 (GRCm39) |
Y23* |
probably null |
Het |
Sap18b |
A |
G |
8: 96,552,098 (GRCm39) |
E36G |
possibly damaging |
Het |
Slc46a2 |
A |
T |
4: 59,914,241 (GRCm39) |
F227L |
probably benign |
Het |
Spata13 |
C |
T |
14: 60,944,349 (GRCm39) |
P581S |
probably benign |
Het |
Spmip4 |
T |
A |
6: 50,550,930 (GRCm39) |
K506N |
|
Het |
Ssc5d |
C |
A |
7: 4,946,568 (GRCm39) |
T974K |
probably benign |
Het |
Tenm4 |
C |
A |
7: 96,545,345 (GRCm39) |
R2491S |
probably damaging |
Het |
Tex2 |
T |
C |
11: 106,437,579 (GRCm39) |
E697G |
unknown |
Het |
Tmem44 |
A |
T |
16: 30,366,226 (GRCm39) |
F67I |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,278,570 (GRCm39) |
D77G |
possibly damaging |
Het |
Ttc9 |
A |
G |
12: 81,710,301 (GRCm39) |
I198V |
probably benign |
Het |
Ttn |
C |
T |
2: 76,661,550 (GRCm39) |
V11942M |
unknown |
Het |
Uqcrc2 |
T |
A |
7: 120,237,118 (GRCm39) |
Y55* |
probably null |
Het |
Vmn1r160 |
A |
T |
7: 22,571,273 (GRCm39) |
M209L |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,793,758 (GRCm39) |
E34G |
probably benign |
Het |
Zmynd8 |
C |
T |
2: 165,654,268 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- GACACAGGTGGCTCTGTTAG -3'
(R):5'- CATTCTCAGCATCAAAGGCAGC -3'
Sequencing Primer
(F):5'- CTCTGTTAGGATGGCCAATGAAG -3'
(R):5'- CAGCATTGCAAGACTTCTTTCATTAC -3'
|
Posted On |
2022-09-12 |