Incidental Mutation 'R9155:Vmn2r50'
| ID |
695301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r50
|
| Ensembl Gene |
ENSMUSG00000094606 |
| Gene Name |
vomeronasal 2, receptor 50 |
| Synonyms |
EG434117 |
| MMRRC Submission |
068941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9155 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9781571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 391
(H391Q)
|
| 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: H407Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: H407Q
| 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: H391Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: H391Q
| 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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
G |
5: 107,691,811 (GRCm39) |
E34G |
probably damaging |
Het |
| Aldh1a3 |
A |
T |
7: 66,058,867 (GRCm39) |
L157* |
probably null |
Het |
| Asic2 |
T |
A |
11: 80,784,872 (GRCm39) |
T356S |
probably benign |
Het |
| Ate1 |
T |
C |
7: 129,996,463 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,350,423 (GRCm39) |
Q474L |
|
Het |
| Calhm6 |
T |
C |
10: 34,002,363 (GRCm39) |
E240G |
probably damaging |
Het |
| Carf |
C |
A |
1: 60,189,842 (GRCm39) |
T689K |
possibly damaging |
Het |
| Carmil2 |
A |
G |
8: 106,412,922 (GRCm39) |
D6G |
probably benign |
Het |
| Ccnd2 |
A |
C |
6: 127,127,663 (GRCm39) |
V25G |
probably damaging |
Het |
| Ccnk |
T |
A |
12: 108,159,978 (GRCm39) |
F153L |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,249,485 (GRCm39) |
G808E |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 43,954,317 (GRCm39) |
R212Q |
probably damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,384 (GRCm39) |
W749R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,738,301 (GRCm39) |
T1073S |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,952,209 (GRCm39) |
D563V |
probably benign |
Het |
| Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
C |
16: 3,914,346 (GRCm39) |
H1292Q |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,449,051 (GRCm39) |
G2737W |
|
Het |
| Ddrgk1 |
T |
C |
2: 130,500,227 (GRCm39) |
Y223C |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,796 (GRCm39) |
Q589R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,907,475 (GRCm39) |
D4336G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,938 (GRCm39) |
Q140L |
possibly damaging |
Het |
| Ergic3 |
A |
G |
2: 155,850,780 (GRCm39) |
Y83C |
probably damaging |
Het |
| Fam171a2 |
A |
T |
11: 102,329,497 (GRCm39) |
S421T |
probably benign |
Het |
| Fndc3a |
T |
A |
14: 72,921,162 (GRCm39) |
H4L |
possibly damaging |
Het |
| Gid8 |
T |
A |
2: 180,359,756 (GRCm39) |
Y213* |
probably null |
Het |
| Hephl1 |
G |
T |
9: 15,000,375 (GRCm39) |
H292Q |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,314,414 (GRCm39) |
Y443C |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,746,788 (GRCm39) |
R168H |
probably benign |
Het |
| Hus1 |
A |
G |
11: 8,956,056 (GRCm39) |
I159T |
probably damaging |
Het |
| Inha |
A |
G |
1: 75,486,133 (GRCm39) |
T143A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,016,089 (GRCm39) |
C766F |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,666,563 (GRCm39) |
E628G |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,120,571 (GRCm39) |
H221R |
probably benign |
Het |
| Llgl1 |
A |
G |
11: 60,597,934 (GRCm39) |
E351G |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,202,508 (GRCm39) |
Y253C |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,291,713 (GRCm39) |
R3489* |
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,050,640 (GRCm39) |
N704S |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,235,693 (GRCm39) |
N995S |
probably benign |
Het |
| Mga |
T |
C |
2: 119,757,013 (GRCm39) |
C1077R |
probably damaging |
Het |
| Muc21 |
G |
A |
17: 35,932,131 (GRCm39) |
P685L |
unknown |
Het |
| Ndufv1 |
A |
T |
19: 4,059,912 (GRCm39) |
C142S |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,429,660 (GRCm39) |
L226P |
probably damaging |
Het |
| Nsd1 |
C |
T |
13: 55,361,253 (GRCm39) |
R74W |
probably damaging |
Het |
| Or12k8 |
A |
C |
2: 36,975,016 (GRCm39) |
M248R |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,255,791 (GRCm39) |
T99A |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,224 (GRCm39) |
M59L |
probably damaging |
Het |
| Or5b99 |
G |
A |
19: 12,976,428 (GRCm39) |
C26Y |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,379 (GRCm39) |
D182V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,691 (GRCm39) |
V812A |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,386,419 (GRCm39) |
C193S |
possibly damaging |
Het |
| Rbbp5 |
C |
A |
1: 132,422,023 (GRCm39) |
P308T |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,148,380 (GRCm39) |
T607A |
probably null |
Het |
| Secisbp2l |
G |
A |
2: 125,617,623 (GRCm39) |
P18L |
probably damaging |
Het |
| Slc27a4 |
G |
A |
2: 29,701,294 (GRCm39) |
G362S |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,672,571 (GRCm39) |
Y36H |
probably damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,447 (GRCm39) |
Y251C |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,296 (GRCm39) |
V373A |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,881,184 (GRCm39) |
V107E |
probably damaging |
Het |
| Them7 |
A |
G |
2: 105,209,124 (GRCm39) |
Y148C |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,625,937 (GRCm39) |
V15041I |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,754,615 (GRCm39) |
V751A |
possibly damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,196,343 (GRCm39) |
R309* |
probably null |
Het |
| Vmn2r10 |
A |
T |
5: 109,144,212 (GRCm39) |
D579E |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,207 (GRCm39) |
Q435R |
probably null |
Het |
| Zbtb44 |
A |
T |
9: 30,965,309 (GRCm39) |
I240F |
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 |
|
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 |
|
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'- GCTCTGTATAAAACCACCCATTTTC -3'
(R):5'- TACAGACTTGGTTCCATCTCAG -3'
Sequencing Primer
(F):5'- AAAACCACCCATTTTCATTTCTAGTC -3'
(R):5'- TGGTTCCATCTCAGAAGCAAAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation