Incidental Mutation 'R6998:Vmn2r50'
| ID |
544343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r50
|
| Ensembl Gene |
ENSMUSG00000094606 |
| Gene Name |
vomeronasal 2, receptor 50 |
| Synonyms |
EG434117 |
| MMRRC Submission |
045010-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9771162-9787105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 9771684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 672
(R672S)
|
| 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: R688S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000074476
Gene: ENSMUSG00000094606
AA Change: R688S
| 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: R672S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000083478
Gene: ENSMUSG00000094606
AA Change: R672S
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,070,026 (GRCm39) |
R620G |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,029,026 (GRCm39) |
N259H |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,598,480 (GRCm39) |
R2* |
probably null |
Het |
| Akr1c21 |
A |
G |
13: 4,633,850 (GRCm39) |
I306M |
probably benign |
Het |
| Alg9 |
T |
A |
9: 50,700,921 (GRCm39) |
S230R |
possibly damaging |
Het |
| Armt1 |
T |
A |
10: 4,403,937 (GRCm39) |
C341S |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,078,628 (GRCm39) |
L29M |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,397,210 (GRCm39) |
T934I |
probably damaging |
Het |
| C1rl |
T |
C |
6: 124,485,861 (GRCm39) |
S411P |
probably damaging |
Het |
| Card14 |
A |
G |
11: 119,213,725 (GRCm39) |
E224G |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,883,111 (GRCm39) |
H1587R |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,332,120 (GRCm39) |
T963A |
possibly damaging |
Het |
| Cdk11b |
G |
A |
4: 155,732,800 (GRCm39) |
W546* |
probably null |
Het |
| Cyp8b1 |
T |
C |
9: 121,745,059 (GRCm39) |
N91S |
probably benign |
Het |
| Dab2 |
G |
T |
15: 6,454,130 (GRCm39) |
M213I |
possibly damaging |
Het |
| Decr1 |
A |
G |
4: 15,930,960 (GRCm39) |
V124A |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,748,687 (GRCm39) |
I411F |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,825,611 (GRCm39) |
I164V |
probably null |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Garem2 |
T |
C |
5: 30,319,168 (GRCm39) |
M210T |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Ighv1-52 |
C |
A |
12: 115,109,112 (GRCm39) |
A115S |
probably benign |
Het |
| Igkv6-13 |
A |
G |
6: 70,434,573 (GRCm39) |
S91P |
probably damaging |
Het |
| Ints8 |
T |
A |
4: 11,204,537 (GRCm39) |
E973V |
possibly damaging |
Het |
| Itga3 |
T |
C |
11: 94,942,288 (GRCm39) |
K972R |
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,478 (GRCm39) |
F339I |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,846,307 (GRCm39) |
M214V |
probably benign |
Het |
| Lgsn |
A |
T |
1: 31,243,274 (GRCm39) |
H452L |
probably benign |
Het |
| Limd2 |
C |
T |
11: 106,049,516 (GRCm39) |
G124D |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,270,755 (GRCm39) |
S993P |
probably damaging |
Het |
| Maml2 |
C |
T |
9: 13,532,481 (GRCm39) |
|
probably benign |
Het |
| Mbtd1 |
A |
T |
11: 93,815,438 (GRCm39) |
H342L |
probably damaging |
Het |
| Mfhas1 |
C |
A |
8: 36,058,510 (GRCm39) |
P995Q |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,372,451 (GRCm39) |
F3399S |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
| Odf2 |
G |
T |
2: 29,802,629 (GRCm39) |
A298S |
probably benign |
Het |
| Or11g7 |
A |
T |
14: 50,690,890 (GRCm39) |
Y127F |
probably benign |
Het |
| Or4s2b |
A |
T |
2: 88,508,852 (GRCm39) |
I218F |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,488 (GRCm39) |
M228K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,450,476 (GRCm39) |
D1124G |
probably benign |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 133,030,110 (GRCm39) |
I1457S |
probably benign |
Het |
| Pole2 |
T |
C |
12: 69,260,680 (GRCm39) |
T167A |
possibly damaging |
Het |
| Rfx7 |
T |
A |
9: 72,525,787 (GRCm39) |
S992R |
probably damaging |
Het |
| Ryr2 |
G |
T |
13: 11,727,052 (GRCm39) |
S2436R |
probably damaging |
Het |
| Sgo2a |
A |
G |
1: 58,055,799 (GRCm39) |
D661G |
probably damaging |
Het |
| Sh3glb2 |
T |
A |
2: 30,245,333 (GRCm39) |
T49S |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 39,932,499 (GRCm39) |
K354R |
possibly damaging |
Het |
| Slc6a6 |
C |
A |
6: 91,729,419 (GRCm39) |
T568K |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,050,633 (GRCm39) |
T2319A |
probably damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,233,454 (GRCm39) |
Y15N |
probably damaging |
Het |
| Thyn1 |
T |
C |
9: 26,917,738 (GRCm39) |
S160P |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,033,966 (GRCm39) |
D147E |
probably benign |
Het |
| Zfp663 |
A |
T |
2: 165,195,922 (GRCm39) |
I99N |
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 |
|
|
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'- AGTAACTGAGCCCTTGTTGCAC -3'
(R):5'- TGACACTCCTATTGTGAAGGCC -3'
Sequencing Primer
(F):5'- AGCCCTTGTTGCACACAATGATG -3'
(R):5'- CTCCTATTGTGAAGGCCAATAACAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation