Incidental Mutation 'R4152:Vmn2r66'
| ID |
314950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r66
|
| Ensembl Gene |
ENSMUSG00000094950 |
| Gene Name |
vomeronasal 2, receptor 66 |
| Synonyms |
F830104D24Rik |
| MMRRC Submission |
040996-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4152 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
84643853-84661228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84654800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 503
(D503G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124773]
|
| AlphaFold |
A0A3B2W842 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124773
AA Change: D503G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000122645
Gene: ENSMUSG00000094950
AA Change: D503G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
463 |
5e-31 |
PFAM |
|
Pfam:NCD3G
|
507 |
559 |
6e-21 |
PFAM |
|
Pfam:7tm_3
|
589 |
827 |
3.8e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (45/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,183,752 (GRCm39) |
M31R |
possibly damaging |
Het |
| Akap6 |
A |
C |
12: 53,187,190 (GRCm39) |
S1535R |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,127,765 (GRCm39) |
I137T |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,812,857 (GRCm39) |
S36G |
probably damaging |
Het |
| Clcn4 |
T |
C |
7: 7,297,833 (GRCm39) |
N67D |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,267,227 (GRCm39) |
|
probably null |
Het |
| Crem |
G |
T |
18: 3,288,055 (GRCm39) |
N179K |
probably damaging |
Het |
| Fam78b |
T |
C |
1: 166,906,369 (GRCm39) |
M176T |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,322 (GRCm39) |
H2036Q |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,751,413 (GRCm39) |
|
probably null |
Het |
| Gm6483 |
T |
C |
8: 19,737,926 (GRCm39) |
|
noncoding transcript |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,789,973 (GRCm39) |
F81S |
probably benign |
Het |
| Lpgat1 |
C |
A |
1: 191,451,600 (GRCm39) |
Y36* |
probably null |
Het |
| Mavs |
A |
G |
2: 131,088,528 (GRCm39) |
D444G |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nemp2 |
A |
G |
1: 52,680,210 (GRCm39) |
S145G |
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Or7g20 |
T |
A |
9: 18,946,816 (GRCm39) |
Y132* |
probably null |
Het |
| Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,823,514 (GRCm39) |
C92* |
probably null |
Het |
| Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
| Phf3 |
C |
T |
1: 30,870,539 (GRCm39) |
V116I |
probably benign |
Het |
| Prl8a2 |
T |
C |
13: 27,534,985 (GRCm39) |
Y86H |
possibly damaging |
Het |
| Rab4b |
T |
C |
7: 26,875,551 (GRCm39) |
|
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,439,449 (GRCm39) |
|
probably benign |
Het |
| Sim1 |
G |
A |
10: 50,859,950 (GRCm39) |
C604Y |
probably damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,696 (GRCm39) |
L251* |
probably null |
Het |
| Slit3 |
A |
G |
11: 35,589,147 (GRCm39) |
N1234S |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Snx31 |
T |
C |
15: 36,525,785 (GRCm39) |
N305D |
probably benign |
Het |
| St14 |
T |
C |
9: 31,001,802 (GRCm39) |
I768V |
probably benign |
Het |
| Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
| Tlr6 |
A |
C |
5: 65,110,555 (GRCm39) |
F784C |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,836,427 (GRCm39) |
V701A |
probably benign |
Het |
| Tspan15 |
A |
T |
10: 62,025,621 (GRCm39) |
M197K |
possibly damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vegfb |
T |
C |
19: 6,963,446 (GRCm39) |
Y106C |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,730 (GRCm39) |
Q588L |
probably damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,488,913 (GRCm39) |
V161A |
probably benign |
Het |
|
| Other mutations in Vmn2r66 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Vmn2r66
|
APN |
7 |
84,656,299 (GRCm39) |
missense |
probably benign |
|
|
IGL01562:Vmn2r66
|
APN |
7 |
84,656,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01689:Vmn2r66
|
APN |
7 |
84,657,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02237:Vmn2r66
|
APN |
7 |
84,643,908 (GRCm39) |
missense |
probably benign |
|
|
IGL02415:Vmn2r66
|
APN |
7 |
84,656,020 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02439:Vmn2r66
|
APN |
7 |
84,654,455 (GRCm39) |
splice site |
probably benign |
|
|
IGL02545:Vmn2r66
|
APN |
7 |
84,655,798 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02708:Vmn2r66
|
APN |
7 |
84,655,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02794:Vmn2r66
|
APN |
7 |
84,644,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02885:Vmn2r66
|
APN |
7 |
84,644,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02975:Vmn2r66
|
APN |
7 |
84,656,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03027:Vmn2r66
|
APN |
7 |
84,644,777 (GRCm39) |
splice site |
probably benign |
|
|
IGL03081:Vmn2r66
|
APN |
7 |
84,657,138 (GRCm39) |
missense |
probably benign |
|
|
PIT4131001:Vmn2r66
|
UTSW |
7 |
84,644,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Vmn2r66
|
UTSW |
7 |
84,654,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Vmn2r66
|
UTSW |
7 |
84,656,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0557:Vmn2r66
|
UTSW |
7 |
84,643,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Vmn2r66
|
UTSW |
7 |
84,644,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0883:Vmn2r66
|
UTSW |
7 |
84,657,070 (GRCm39) |
missense |
probably benign |
|
|
R1159:Vmn2r66
|
UTSW |
7 |
84,644,613 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1168:Vmn2r66
|
UTSW |
7 |
84,656,062 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1172:Vmn2r66
|
UTSW |
7 |
84,654,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1175:Vmn2r66
|
UTSW |
7 |
84,654,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1538:Vmn2r66
|
UTSW |
7 |
84,644,166 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1658:Vmn2r66
|
UTSW |
7 |
84,656,955 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1937:Vmn2r66
|
UTSW |
7 |
84,644,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1989:Vmn2r66
|
UTSW |
7 |
84,661,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2698:Vmn2r66
|
UTSW |
7 |
84,644,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2890:Vmn2r66
|
UTSW |
7 |
84,661,027 (GRCm39) |
splice site |
probably null |
|
|
R3686:Vmn2r66
|
UTSW |
7 |
84,644,397 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4500:Vmn2r66
|
UTSW |
7 |
84,657,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Vmn2r66
|
UTSW |
7 |
84,644,296 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4656:Vmn2r66
|
UTSW |
7 |
84,661,204 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4668:Vmn2r66
|
UTSW |
7 |
84,643,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4942:Vmn2r66
|
UTSW |
7 |
84,656,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Vmn2r66
|
UTSW |
7 |
84,656,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5223:Vmn2r66
|
UTSW |
7 |
84,657,093 (GRCm39) |
missense |
probably benign |
|
|
R5377:Vmn2r66
|
UTSW |
7 |
84,656,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5512:Vmn2r66
|
UTSW |
7 |
84,657,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Vmn2r66
|
UTSW |
7 |
84,654,951 (GRCm39) |
nonsense |
probably null |
|
|
R5749:Vmn2r66
|
UTSW |
7 |
84,655,979 (GRCm39) |
nonsense |
probably null |
|
|
R6131:Vmn2r66
|
UTSW |
7 |
84,644,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Vmn2r66
|
UTSW |
7 |
84,644,766 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6509:Vmn2r66
|
UTSW |
7 |
84,656,054 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6930:Vmn2r66
|
UTSW |
7 |
84,661,216 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6992:Vmn2r66
|
UTSW |
7 |
84,654,436 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7015:Vmn2r66
|
UTSW |
7 |
84,644,766 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7302:Vmn2r66
|
UTSW |
7 |
84,654,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7516:Vmn2r66
|
UTSW |
7 |
84,661,176 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7763:Vmn2r66
|
UTSW |
7 |
84,654,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7814:Vmn2r66
|
UTSW |
7 |
84,656,472 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8077:Vmn2r66
|
UTSW |
7 |
84,656,093 (GRCm39) |
missense |
probably benign |
|
|
R8307:Vmn2r66
|
UTSW |
7 |
84,656,270 (GRCm39) |
missense |
probably benign |
|
|
R8315:Vmn2r66
|
UTSW |
7 |
84,643,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8490:Vmn2r66
|
UTSW |
7 |
84,654,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8511:Vmn2r66
|
UTSW |
7 |
84,656,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8781:Vmn2r66
|
UTSW |
7 |
84,644,355 (GRCm39) |
nonsense |
probably null |
|
|
R8812:Vmn2r66
|
UTSW |
7 |
84,654,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9203:Vmn2r66
|
UTSW |
7 |
84,654,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9277:Vmn2r66
|
UTSW |
7 |
84,661,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCACTGAAAGACCTCATTTAAG -3'
(R):5'- TCCTGCTGGAGAACTAGTCATC -3'
Sequencing Primer
(F):5'- ATATCTAGGACTCTGTAAAGTC -3'
(R):5'- CTGCTGGAGAACTAGTCATCATGAAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation