Incidental Mutation 'R0530:Vmn2r50'
| ID |
155843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r50
|
| Ensembl Gene |
ENSMUSG00000094606 |
| Gene Name |
vomeronasal 2, receptor 50 |
| Synonyms |
EG434117 |
| MMRRC Submission |
038722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R0530 (G1)
|
| Quality Score |
70 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9781644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 367
(M367K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074943]
[ENSMUST00000086298]
|
| AlphaFold |
E9PW61 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074943
AA Change: M383K
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: M383K
| 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 |
possibly damaging
Transcript: ENSMUST00000086298
AA Change: M367K
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: M367K
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,083,920 (GRCm39) |
W617R |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,568 (GRCm39) |
C219S |
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,555,450 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,946,149 (GRCm39) |
|
probably benign |
Het |
| Ckap2 |
A |
G |
8: 22,665,988 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
C |
A |
5: 123,778,594 (GRCm39) |
R443L |
probably damaging |
Het |
| Clmp |
A |
G |
9: 40,672,302 (GRCm39) |
D44G |
probably benign |
Het |
| Cntnap2 |
G |
A |
6: 46,506,839 (GRCm39) |
Q304* |
probably null |
Het |
| Cst7 |
A |
T |
2: 150,412,435 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
A |
T |
9: 111,311,789 (GRCm39) |
Y677F |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,548,869 (GRCm39) |
N562K |
probably damaging |
Het |
| Elmod1 |
A |
T |
9: 53,833,260 (GRCm39) |
Y182N |
probably damaging |
Het |
| Fzd10 |
T |
C |
5: 128,679,077 (GRCm39) |
F266L |
probably damaging |
Het |
| Gm8258 |
A |
G |
5: 104,923,952 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9742 |
T |
A |
13: 8,080,041 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
T |
C |
1: 93,358,039 (GRCm39) |
|
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,196,627 (GRCm39) |
S597P |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,481,153 (GRCm39) |
I80F |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,970,700 (GRCm39) |
N1192S |
probably benign |
Het |
| Ldha |
G |
A |
7: 46,503,417 (GRCm39) |
V270M |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,931,891 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,769,256 (GRCm39) |
F954I |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,963,877 (GRCm39) |
N823S |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,419,895 (GRCm39) |
N2480K |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,977 (GRCm39) |
K121E |
probably benign |
Het |
| Neurl1b |
T |
A |
17: 26,660,519 (GRCm39) |
|
probably null |
Het |
| Nnt |
C |
A |
13: 119,531,257 (GRCm39) |
L163F |
probably damaging |
Het |
| Or10v5 |
A |
G |
19: 11,805,556 (GRCm39) |
V278A |
probably benign |
Het |
| Otog |
A |
G |
7: 45,947,668 (GRCm39) |
T2274A |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,459,848 (GRCm39) |
R561Q |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,269,264 (GRCm39) |
F453L |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,235,972 (GRCm39) |
|
probably null |
Het |
| Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
| Prdx6b |
A |
G |
2: 80,123,659 (GRCm39) |
N156S |
probably damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,968,417 (GRCm39) |
S586G |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,618,053 (GRCm39) |
N253K |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,052,608 (GRCm39) |
V809D |
possibly damaging |
Het |
| Slc2a8 |
C |
T |
2: 32,863,696 (GRCm39) |
A449T |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,701,939 (GRCm39) |
I116V |
probably null |
Het |
| Synj2 |
T |
A |
17: 6,058,380 (GRCm39) |
S58R |
possibly damaging |
Het |
| Tafa3 |
T |
C |
3: 104,679,487 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,965,831 (GRCm39) |
V463A |
probably damaging |
Het |
| Uchl5 |
T |
C |
1: 143,670,082 (GRCm39) |
V105A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,333,600 (GRCm39) |
|
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,667 (GRCm39) |
S148P |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,632,570 (GRCm39) |
|
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,013,635 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
A |
G |
7: 29,229,545 (GRCm39) |
|
noncoding transcript |
Het |
| Ythdc2 |
T |
A |
18: 44,983,465 (GRCm39) |
M544K |
probably damaging |
Het |
| Zpld2 |
A |
G |
4: 133,930,221 (GRCm39) |
I28T |
probably benign |
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 |
|
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 |
|
|
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'- AAGCAGTGAGAACTGGCTCCTTTC -3'
(R):5'- TCTCTATCAGATGGCCCCAAAGGAC -3'
Sequencing Primer
(F):5'- AGAACTGGCTCCTTTCCCATTG -3'
(R):5'- TTCAGAATGTGGGAACCTCC -3'
|
| Posted On |
2014-02-07 |
Incidental Mutation