Incidental Mutation 'R7126:Vmn2r57'
| ID |
552325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r57
|
| Ensembl Gene |
ENSMUSG00000066537 |
| Gene Name |
vomeronasal 2, receptor 57 |
| Synonyms |
EG269902 |
| MMRRC Submission |
045213-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R7126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41049218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 844
(S844P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094532]
[ENSMUST00000165029]
|
| AlphaFold |
L7N269 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094532
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165029
AA Change: S844P
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: S844P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
471 |
1.4e-44 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
2.7e-23 |
PFAM |
|
Pfam:7tm_3
|
600 |
835 |
1.8e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,535,988 (GRCm39) |
C85R |
unknown |
Het |
| 3110082I17Rik |
G |
T |
5: 139,347,005 (GRCm39) |
H153Q |
unknown |
Het |
| Acadsb |
T |
C |
7: 131,039,177 (GRCm39) |
I316T |
probably benign |
Het |
| Acsbg2 |
A |
T |
17: 57,153,633 (GRCm39) |
N523K |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,979,723 (GRCm39) |
P336S |
possibly damaging |
Het |
| Ankdd1b |
A |
G |
13: 96,566,370 (GRCm39) |
V277A |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,408,541 (GRCm39) |
Y2476C |
probably benign |
Het |
| Atg13 |
G |
A |
2: 91,510,765 (GRCm39) |
R321W |
probably damaging |
Het |
| B4galt2 |
A |
G |
4: 117,734,735 (GRCm39) |
F211S |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,464,119 (GRCm39) |
T913S |
possibly damaging |
Het |
| Btbd18 |
A |
T |
2: 84,496,546 (GRCm39) |
E61D |
possibly damaging |
Het |
| Btnl9 |
G |
T |
11: 49,060,082 (GRCm39) |
S555R |
probably damaging |
Het |
| Cbs |
T |
A |
17: 31,838,113 (GRCm39) |
M379L |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,741,853 (GRCm39) |
G1614D |
unknown |
Het |
| Cmya5 |
G |
A |
13: 93,226,448 (GRCm39) |
P2880L |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,473,292 (GRCm39) |
S729P |
probably damaging |
Het |
| Cox16 |
T |
A |
12: 81,518,940 (GRCm39) |
E70D |
probably benign |
Het |
| Cp |
A |
G |
3: 20,034,788 (GRCm39) |
H699R |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,678,209 (GRCm39) |
N56D |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,725,667 (GRCm39) |
Y707C |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,349,983 (GRCm39) |
E2555D |
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,729,154 (GRCm39) |
T6A |
unknown |
Het |
| Filip1 |
A |
G |
9: 79,805,577 (GRCm39) |
L59P |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,813,485 (GRCm39) |
N3268S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,014 (GRCm39) |
C457S |
probably benign |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
| Grep1 |
C |
T |
17: 23,939,538 (GRCm39) |
V8I |
probably benign |
Het |
| Grid2 |
T |
A |
6: 64,053,794 (GRCm39) |
V331E |
probably damaging |
Het |
| Inpp4a |
C |
A |
1: 37,413,353 (GRCm39) |
H123Q |
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,793,851 (GRCm39) |
Y260* |
probably null |
Het |
| Itpr2 |
G |
A |
6: 146,259,294 (GRCm39) |
Q628* |
probably null |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,759 (GRCm39) |
A453T |
probably damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,648 (GRCm39) |
T347A |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,477,073 (GRCm39) |
D874V |
probably benign |
Het |
| Klhl12 |
A |
G |
1: 134,395,521 (GRCm39) |
H161R |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,871 (GRCm39) |
E412G |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,573,132 (GRCm39) |
I95V |
probably damaging |
Het |
| Mme |
C |
T |
3: 63,276,322 (GRCm39) |
P700S |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,290,472 (GRCm39) |
V53A |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,468,439 (GRCm39) |
L210P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,552,512 (GRCm39) |
T4594A |
probably benign |
Het |
| Niban1 |
T |
A |
1: 151,590,318 (GRCm39) |
C537* |
probably null |
Het |
| Olfm5 |
A |
T |
7: 103,809,187 (GRCm39) |
C208S |
probably damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,887 (GRCm39) |
I139N |
possibly damaging |
Het |
| Or2ad1 |
A |
T |
13: 21,326,888 (GRCm39) |
L113H |
probably damaging |
Het |
| Or7a39 |
T |
C |
10: 78,715,411 (GRCm39) |
V135A |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Plin1 |
T |
C |
7: 79,376,412 (GRCm39) |
|
probably null |
Het |
| Prl7a1 |
C |
T |
13: 27,826,402 (GRCm39) |
|
probably null |
Het |
| Ptpn23 |
T |
C |
9: 110,217,812 (GRCm39) |
D711G |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,103,954 (GRCm39) |
I169N |
probably damaging |
Het |
| Scn7a |
G |
T |
2: 66,587,630 (GRCm39) |
H24Q |
possibly damaging |
Het |
| Scrt2 |
C |
T |
2: 151,935,006 (GRCm39) |
P53L |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,802,458 (GRCm39) |
I264L |
probably benign |
Het |
| Smarcd1 |
A |
T |
15: 99,607,206 (GRCm39) |
D393V |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 100,008,751 (GRCm39) |
N1960K |
probably benign |
Het |
| Ssb |
A |
G |
2: 69,696,845 (GRCm39) |
T62A |
possibly damaging |
Het |
| Taar7b |
T |
A |
10: 23,875,960 (GRCm39) |
Y42N |
possibly damaging |
Het |
| Terf1 |
A |
T |
1: 15,883,363 (GRCm39) |
I159L |
probably benign |
Het |
| Tff3 |
T |
G |
17: 31,346,410 (GRCm39) |
N54T |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,905,818 (GRCm39) |
L285P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,896,392 (GRCm39) |
Y283C |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,531,405 (GRCm39) |
C38R |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,960,648 (GRCm39) |
T647S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,960,133 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
T |
19: 18,831,397 (GRCm39) |
Q1421* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,284,982 (GRCm39) |
|
probably null |
Het |
| Vmn1r46 |
T |
G |
6: 89,953,976 (GRCm39) |
I275S |
possibly damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,088 (GRCm39) |
F282S |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,688,243 (GRCm39) |
C855G |
probably benign |
Het |
| Wdr31 |
T |
A |
4: 62,381,666 (GRCm39) |
Q55L |
probably benign |
Het |
|
| Other mutations in Vmn2r57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Vmn2r57
|
APN |
7 |
41,078,209 (GRCm39) |
missense |
probably benign |
|
|
IGL01108:Vmn2r57
|
APN |
7 |
41,077,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01112:Vmn2r57
|
APN |
7 |
41,074,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Vmn2r57
|
APN |
7 |
41,049,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01880:Vmn2r57
|
APN |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02117:Vmn2r57
|
APN |
7 |
41,049,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02500:Vmn2r57
|
APN |
7 |
41,077,650 (GRCm39) |
missense |
probably benign |
|
|
IGL02801:Vmn2r57
|
APN |
7 |
41,098,056 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02993:Vmn2r57
|
APN |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02996:Vmn2r57
|
APN |
7 |
41,049,165 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0008:Vmn2r57
|
UTSW |
7 |
41,050,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Vmn2r57
|
UTSW |
7 |
41,049,157 (GRCm39) |
splice site |
probably null |
|
|
R0305:Vmn2r57
|
UTSW |
7 |
41,076,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0469:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0510:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0847:Vmn2r57
|
UTSW |
7 |
41,078,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1025:Vmn2r57
|
UTSW |
7 |
41,077,228 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1081:Vmn2r57
|
UTSW |
7 |
41,077,635 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1479:Vmn2r57
|
UTSW |
7 |
41,077,254 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1579:Vmn2r57
|
UTSW |
7 |
41,049,548 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1764:Vmn2r57
|
UTSW |
7 |
41,050,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Vmn2r57
|
UTSW |
7 |
41,077,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Vmn2r57
|
UTSW |
7 |
41,098,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2197:Vmn2r57
|
UTSW |
7 |
41,078,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2242:Vmn2r57
|
UTSW |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2394:Vmn2r57
|
UTSW |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3937:Vmn2r57
|
UTSW |
7 |
41,077,554 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4193:Vmn2r57
|
UTSW |
7 |
41,077,663 (GRCm39) |
missense |
probably benign |
|
|
R4423:Vmn2r57
|
UTSW |
7 |
41,076,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Vmn2r57
|
UTSW |
7 |
41,049,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Vmn2r57
|
UTSW |
7 |
41,049,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Vmn2r57
|
UTSW |
7 |
41,078,086 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5084:Vmn2r57
|
UTSW |
7 |
41,075,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5177:Vmn2r57
|
UTSW |
7 |
41,049,664 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5192:Vmn2r57
|
UTSW |
7 |
41,077,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5289:Vmn2r57
|
UTSW |
7 |
41,049,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5745:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6051:Vmn2r57
|
UTSW |
7 |
41,097,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6155:Vmn2r57
|
UTSW |
7 |
41,078,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6248:Vmn2r57
|
UTSW |
7 |
41,049,284 (GRCm39) |
missense |
probably benign |
|
|
R6381:Vmn2r57
|
UTSW |
7 |
41,078,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7019:Vmn2r57
|
UTSW |
7 |
41,078,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7215:Vmn2r57
|
UTSW |
7 |
41,049,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7432:Vmn2r57
|
UTSW |
7 |
41,076,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7633:Vmn2r57
|
UTSW |
7 |
41,074,513 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7811:Vmn2r57
|
UTSW |
7 |
41,074,439 (GRCm39) |
nonsense |
probably null |
|
|
R8025:Vmn2r57
|
UTSW |
7 |
41,076,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8332:Vmn2r57
|
UTSW |
7 |
41,049,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8345:Vmn2r57
|
UTSW |
7 |
41,076,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8360:Vmn2r57
|
UTSW |
7 |
41,049,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Vmn2r57
|
UTSW |
7 |
41,077,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8758:Vmn2r57
|
UTSW |
7 |
41,078,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r57
|
UTSW |
7 |
41,049,571 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8985:Vmn2r57
|
UTSW |
7 |
41,049,259 (GRCm39) |
missense |
probably benign |
|
|
R9108:Vmn2r57
|
UTSW |
7 |
41,078,192 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9160:Vmn2r57
|
UTSW |
7 |
41,076,159 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9354:Vmn2r57
|
UTSW |
7 |
41,049,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9566:Vmn2r57
|
UTSW |
7 |
41,077,089 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9633:Vmn2r57
|
UTSW |
7 |
41,076,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,549 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Vmn2r57
|
UTSW |
7 |
41,077,395 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Vmn2r57
|
UTSW |
7 |
41,049,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACACAAAGTGAGATACTGTTACAG -3'
(R):5'- TGCCTGTCATTCAGCATGC -3'
Sequencing Primer
(F):5'- GTTACACTACAAAGAAACACTAAAGC -3'
(R):5'- GTCATTCAGCATGCAGGTATTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation