Incidental Mutation 'R4423:Vmn2r57'
| ID |
327202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r57
|
| Ensembl Gene |
ENSMUSG00000066537 |
| Gene Name |
vomeronasal 2, receptor 57 |
| Synonyms |
EG269902 |
| MMRRC Submission |
041143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41076064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 483
(K483E)
|
| 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 |
probably damaging
Transcript: ENSMUST00000165029
AA Change: K483E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: K483E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
C |
A |
10: 100,441,495 (GRCm39) |
P100Q |
probably damaging |
Het |
| A630010A05Rik |
A |
G |
16: 14,436,577 (GRCm39) |
Y210C |
probably benign |
Het |
| Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
| Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
| Asgr2 |
G |
A |
11: 69,996,211 (GRCm39) |
V218I |
probably benign |
Het |
| Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
| Cfap144 |
A |
T |
11: 58,687,357 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
T |
A |
9: 114,446,988 (GRCm39) |
I363F |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,644,932 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
T |
14: 31,006,718 (GRCm39) |
G2199D |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,799,465 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,227,474 (GRCm39) |
I1689T |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,269,547 (GRCm39) |
F762S |
probably benign |
Het |
| Eif2b5 |
A |
G |
16: 20,320,469 (GRCm39) |
D195G |
probably benign |
Het |
| Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
| Far1 |
T |
A |
7: 113,139,805 (GRCm39) |
S84R |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Galnt15 |
A |
T |
14: 31,780,226 (GRCm39) |
I508F |
possibly damaging |
Het |
| Grik1 |
T |
C |
16: 87,720,088 (GRCm39) |
T745A |
probably benign |
Het |
| Hira |
A |
G |
16: 18,774,952 (GRCm39) |
D959G |
possibly damaging |
Het |
| Hsf5 |
T |
C |
11: 87,522,460 (GRCm39) |
L351P |
probably damaging |
Het |
| Icosl |
C |
T |
10: 77,907,707 (GRCm39) |
T89I |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,216,503 (GRCm39) |
N414K |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,298,562 (GRCm39) |
S1035P |
probably damaging |
Het |
| Lcp2 |
G |
T |
11: 34,028,226 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
T |
9: 109,896,662 (GRCm39) |
T631I |
probably damaging |
Het |
| Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,089,752 (GRCm39) |
K1221M |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,150,948 (GRCm39) |
T333A |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,412 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,662 (GRCm39) |
T165A |
probably benign |
Het |
| Plod2 |
T |
C |
9: 92,484,042 (GRCm39) |
L502S |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,103,375 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Prkcq |
T |
C |
2: 11,260,980 (GRCm39) |
I344T |
possibly damaging |
Het |
| Rbl1 |
A |
G |
2: 157,010,875 (GRCm39) |
|
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Sec62 |
T |
C |
3: 30,868,431 (GRCm39) |
M220T |
unknown |
Het |
| Shprh |
T |
G |
10: 11,062,262 (GRCm39) |
V1219G |
possibly damaging |
Het |
| Slc25a46 |
T |
C |
18: 31,742,651 (GRCm39) |
T72A |
probably benign |
Het |
| Slc4a2 |
G |
A |
5: 24,644,846 (GRCm39) |
W1040* |
probably null |
Het |
| Slc5a1 |
T |
C |
5: 33,312,018 (GRCm39) |
V470A |
possibly damaging |
Het |
| Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
| Trpm2 |
T |
C |
10: 77,770,902 (GRCm39) |
D678G |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,969,863 (GRCm39) |
K11E |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,925,861 (GRCm39) |
I234T |
probably benign |
Het |
| Wnk1 |
T |
A |
6: 119,903,387 (GRCm39) |
S2111C |
probably damaging |
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 |
|
|
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 |
|
R7126:Vmn2r57
|
UTSW |
7 |
41,049,218 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- GATTGACTGATACTGAATGAGTGTC -3'
(R):5'- TCCATCATGAGGTGATAAAAGACACAG -3'
Sequencing Primer
(F):5'- ACTGAATGAGTGTCCAATTAACAC -3'
(R):5'- TGAGGTGATAAAAGACACAGTTATTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation