Incidental Mutation 'IGL01060:Vmn2r56'
| ID |
51408 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn2r56
|
| Ensembl Gene |
ENSMUSG00000090762 |
| Gene Name |
vomeronasal 2, receptor 56 |
| Synonyms |
EG629079 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL01060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
12427787-12468785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12447016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 379
(I379F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163852]
|
| AlphaFold |
A0A3B2WBA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163852
AA Change: I379F
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129566
Gene: ENSMUSG00000090762
AA Change: I379F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
1.9e-55 |
PFAM |
|
Pfam:NCD3G
|
439 |
492 |
6.4e-20 |
PFAM |
|
Pfam:7tm_3
|
523 |
760 |
1.3e-53 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,148 (GRCm39) |
T3A |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,247,542 (GRCm39) |
S209T |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 26,007,806 (GRCm39) |
D281G |
probably damaging |
Het |
| Ccnb3 |
A |
T |
X: 6,846,513 (GRCm39) |
N1362K |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,368,918 (GRCm39) |
N1662S |
possibly damaging |
Het |
| Elp1 |
C |
T |
4: 56,784,537 (GRCm39) |
|
probably null |
Het |
| Ern2 |
T |
A |
7: 121,769,315 (GRCm39) |
R904W |
probably damaging |
Het |
| Fam120c |
C |
T |
X: 150,252,583 (GRCm39) |
P1045S |
probably benign |
Het |
| Gm12887 |
C |
T |
4: 121,473,610 (GRCm39) |
|
probably benign |
Het |
| Gpld1 |
G |
A |
13: 25,166,549 (GRCm39) |
G627S |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,769,315 (GRCm39) |
|
probably benign |
Het |
| Ltf |
A |
T |
9: 110,851,950 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
G |
T |
4: 132,974,613 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
G |
A |
13: 55,411,242 (GRCm39) |
G1431D |
probably damaging |
Het |
| Plekhm2 |
C |
T |
4: 141,369,956 (GRCm39) |
|
probably null |
Het |
| Popdc2 |
T |
A |
16: 38,194,327 (GRCm39) |
N249K |
probably damaging |
Het |
| Ppm1h |
A |
G |
10: 122,743,476 (GRCm39) |
D400G |
possibly damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,588,181 (GRCm39) |
S320T |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,788,793 (GRCm39) |
R42* |
probably null |
Het |
| Sap130 |
T |
C |
18: 31,848,496 (GRCm39) |
L967P |
probably damaging |
Het |
| Smyd2 |
T |
C |
1: 189,629,667 (GRCm39) |
E121G |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,426,413 (GRCm39) |
W144* |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,860,970 (GRCm39) |
V192A |
probably benign |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,802 (GRCm39) |
V114E |
probably damaging |
Het |
| Trim16 |
T |
C |
11: 62,711,530 (GRCm39) |
I67T |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,615,337 (GRCm39) |
D267G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,720,073 (GRCm39) |
|
probably benign |
Het |
| Zfp14 |
T |
C |
7: 29,737,510 (GRCm39) |
T492A |
probably damaging |
Het |
|
| Other mutations in Vmn2r56 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Vmn2r56
|
APN |
7 |
12,449,426 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01433:Vmn2r56
|
APN |
7 |
12,449,541 (GRCm39) |
missense |
probably benign |
|
|
IGL01859:Vmn2r56
|
APN |
7 |
12,449,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01874:Vmn2r56
|
APN |
7 |
12,449,602 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02208:Vmn2r56
|
APN |
7 |
12,449,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4445001:Vmn2r56
|
UTSW |
7 |
12,449,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0077:Vmn2r56
|
UTSW |
7 |
12,449,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0278:Vmn2r56
|
UTSW |
7 |
12,449,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0512:Vmn2r56
|
UTSW |
7 |
12,449,350 (GRCm39) |
missense |
probably benign |
|
|
R0658:Vmn2r56
|
UTSW |
7 |
12,444,235 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0789:Vmn2r56
|
UTSW |
7 |
12,466,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1534:Vmn2r56
|
UTSW |
7 |
12,427,954 (GRCm39) |
missense |
probably benign |
|
|
R1731:Vmn2r56
|
UTSW |
7 |
12,466,972 (GRCm39) |
missense |
probably benign |
|
|
R1817:Vmn2r56
|
UTSW |
7 |
12,449,542 (GRCm39) |
missense |
probably benign |
|
|
R2047:Vmn2r56
|
UTSW |
7 |
12,466,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Vmn2r56
|
UTSW |
7 |
12,446,890 (GRCm39) |
nonsense |
probably null |
|
|
R2160:Vmn2r56
|
UTSW |
7 |
12,428,146 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2449:Vmn2r56
|
UTSW |
7 |
12,428,082 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2877:Vmn2r56
|
UTSW |
7 |
12,444,954 (GRCm39) |
missense |
probably benign |
|
|
R2878:Vmn2r56
|
UTSW |
7 |
12,444,954 (GRCm39) |
missense |
probably benign |
|
|
R4910:Vmn2r56
|
UTSW |
7 |
12,449,462 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5072:Vmn2r56
|
UTSW |
7 |
12,427,983 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5340:Vmn2r56
|
UTSW |
7 |
12,449,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5697:Vmn2r56
|
UTSW |
7 |
12,449,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5798:Vmn2r56
|
UTSW |
7 |
12,446,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6166:Vmn2r56
|
UTSW |
7 |
12,427,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Vmn2r56
|
UTSW |
7 |
12,428,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Vmn2r56
|
UTSW |
7 |
12,427,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6751:Vmn2r56
|
UTSW |
7 |
12,428,719 (GRCm39) |
missense |
probably benign |
|
|
R6978:Vmn2r56
|
UTSW |
7 |
12,449,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7090:Vmn2r56
|
UTSW |
7 |
12,449,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7200:Vmn2r56
|
UTSW |
7 |
12,444,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Vmn2r56
|
UTSW |
7 |
12,449,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8222:Vmn2r56
|
UTSW |
7 |
12,444,960 (GRCm39) |
missense |
probably benign |
|
|
R8282:Vmn2r56
|
UTSW |
7 |
12,449,601 (GRCm39) |
nonsense |
probably null |
|
|
R8786:Vmn2r56
|
UTSW |
7 |
12,449,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Vmn2r56
|
UTSW |
7 |
12,428,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Vmn2r56
|
UTSW |
7 |
12,444,237 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
RF002:Vmn2r56
|
UTSW |
7 |
12,428,757 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-06-21 |
Incidental Mutation