Incidental Mutation 'R9238:Vmn2r50'
| ID |
700585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r50
|
| Ensembl Gene |
ENSMUSG00000094606 |
| Gene Name |
vomeronasal 2, receptor 50 |
| Synonyms |
EG434117 |
| MMRRC Submission |
068987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R9238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9781503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 414
(S414F)
|
| 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: S430F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: S430F
| 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: S414F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: S414F
| 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: 98.6%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
C |
A |
5: 137,653,622 (GRCm39) |
V365F |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,089,441 (GRCm38) |
N319I |
probably damaging |
Het |
| AY074887 |
C |
T |
9: 54,858,087 (GRCm39) |
V13M |
unknown |
Het |
| Boc |
T |
C |
16: 44,311,021 (GRCm39) |
T738A |
|
Het |
| C2cd5 |
A |
G |
6: 143,027,127 (GRCm39) |
V126A |
possibly damaging |
Het |
| Cdk9 |
A |
T |
2: 32,598,273 (GRCm39) |
L261Q |
possibly damaging |
Het |
| Chi3l1 |
T |
C |
1: 134,115,685 (GRCm39) |
L231P |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,399,027 (GRCm39) |
C604S |
probably null |
Het |
| Dop1a |
T |
C |
9: 86,415,027 (GRCm39) |
V1923A |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,546,018 (GRCm39) |
S230P |
probably benign |
Het |
| Eps15l1 |
T |
C |
8: 73,095,274 (GRCm39) |
E892G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,705,871 (GRCm39) |
T1133A |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,832,220 (GRCm39) |
I1518F |
possibly damaging |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,508 (GRCm39) |
C2580S |
probably damaging |
Het |
| Ino80b |
T |
A |
6: 83,102,314 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,009,889 (GRCm39) |
R1274G |
probably damaging |
Het |
| Lcn12 |
A |
G |
2: 25,382,273 (GRCm39) |
I144T |
possibly damaging |
Het |
| Lrrc37 |
G |
T |
11: 103,509,859 (GRCm39) |
P703Q |
unknown |
Het |
| Mroh5 |
T |
C |
15: 73,663,586 (GRCm39) |
N158S |
probably benign |
Het |
| Mtpap |
G |
T |
18: 4,396,439 (GRCm39) |
G577V |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,177 (GRCm39) |
V967A |
possibly damaging |
Het |
| Ndufa11 |
T |
C |
17: 57,028,112 (GRCm39) |
Y61H |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,144,530 (GRCm39) |
N602K |
probably damaging |
Het |
| Nubp1 |
C |
A |
16: 10,231,604 (GRCm39) |
T85K |
probably benign |
Het |
| Oosp3 |
A |
G |
19: 11,676,753 (GRCm39) |
I37M |
probably damaging |
Het |
| Optn |
A |
G |
2: 5,057,951 (GRCm39) |
S73P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,352 (GRCm39) |
I143T |
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,350,529 (GRCm39) |
T8A |
probably benign |
Het |
| Osmr |
T |
G |
15: 6,846,086 (GRCm39) |
I779L |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,190 (GRCm39) |
D370G |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,550,570 (GRCm39) |
S571P |
probably benign |
Het |
| Pgbd5 |
A |
G |
8: 125,106,930 (GRCm39) |
I204T |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,604,799 (GRCm39) |
I1172T |
possibly damaging |
Het |
| Plch1 |
T |
A |
3: 63,606,412 (GRCm39) |
H1164L |
possibly damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,099,954 (GRCm39) |
F156L |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,561,017 (GRCm39) |
E274G |
possibly damaging |
Het |
| Serpinb9 |
A |
G |
13: 33,199,479 (GRCm39) |
D258G |
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,265,733 (GRCm39) |
|
probably null |
Het |
| Slco1a7 |
G |
T |
6: 141,686,153 (GRCm39) |
T229K |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,447 (GRCm39) |
T1568N |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,461 (GRCm39) |
T316A |
probably benign |
Het |
| Tacc1 |
A |
T |
8: 25,672,634 (GRCm39) |
M198K |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,710,652 (GRCm39) |
F76S |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,687,082 (GRCm39) |
I288V |
possibly damaging |
Het |
| Zfp141 |
G |
A |
7: 42,125,111 (GRCm39) |
R454* |
probably null |
Het |
| Zscan22 |
T |
A |
7: 12,641,075 (GRCm39) |
C440S |
probably damaging |
Het |
| Zscan4-ps2 |
A |
T |
7: 11,251,339 (GRCm39) |
Q153L |
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 |
|
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 |
|
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'- TTCACATGCTCTGTATAAAACCACC -3'
(R):5'- TGAAGAGCAATTCATCCAATGC -3'
Sequencing Primer
(F):5'- GCTCTGTATAAAACCACCCATTTTC -3'
(R):5'- GCCTCATTTGATTGGCTAATGGAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation