Incidental Mutation 'IGL02161:Vmn2r44'
| ID |
282462 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn2r44
|
| Ensembl Gene |
ENSMUSG00000094098 |
| Gene Name |
vomeronasal 2, receptor 44 |
| Synonyms |
EG434113 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL02161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
8370459-8386237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8380814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 360
(Y360N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166499]
|
| AlphaFold |
L7N2E1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166499
AA Change: Y360N
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132467
Gene: ENSMUSG00000094098
AA Change: Y360N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
2.5e-34 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
3.8e-20 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
5.7e-55 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,838,490 (GRCm39) |
V1024D |
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,400,154 (GRCm39) |
M262L |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,932,498 (GRCm39) |
T1135A |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,726,623 (GRCm39) |
Y2177* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,855,832 (GRCm39) |
H214P |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,375,674 (GRCm39) |
|
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,778,000 (GRCm39) |
T149I |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,436,569 (GRCm39) |
R942S |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,761,302 (GRCm39) |
A941V |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,957,654 (GRCm39) |
Q471R |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,408,426 (GRCm39) |
V380I |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,648,432 (GRCm39) |
Q857L |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,745,702 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
C |
A |
9: 15,908,346 (GRCm39) |
R2552I |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,908,347 (GRCm39) |
R2552* |
probably null |
Het |
| Fbln7 |
A |
T |
2: 128,731,711 (GRCm39) |
K166I |
probably benign |
Het |
| Glrx2 |
C |
T |
1: 143,615,421 (GRCm39) |
S8L |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,846 (GRCm39) |
I630L |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,458,377 (GRCm39) |
W423R |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,550,245 (GRCm39) |
E468G |
probably damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,059,762 (GRCm39) |
S566P |
probably benign |
Het |
| Lemd2 |
A |
G |
17: 27,409,625 (GRCm39) |
S509P |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,602,875 (GRCm39) |
F221S |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,101,441 (GRCm39) |
F370S |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,698,797 (GRCm39) |
V255L |
possibly damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,555 (GRCm39) |
S596T |
possibly damaging |
Het |
| Prkcq |
G |
T |
2: 11,281,887 (GRCm39) |
S472I |
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,235,940 (GRCm39) |
|
probably benign |
Het |
| Rnd3 |
C |
T |
2: 51,024,088 (GRCm39) |
V164M |
probably benign |
Het |
| Rtn4rl1 |
G |
A |
11: 75,156,666 (GRCm39) |
R366Q |
probably damaging |
Het |
| Sesn2 |
A |
T |
4: 132,224,229 (GRCm39) |
I393N |
probably damaging |
Het |
| St8sia2 |
T |
C |
7: 73,626,430 (GRCm39) |
N46S |
probably benign |
Het |
| Svopl |
A |
G |
6: 38,013,750 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
C |
T |
2: 61,635,583 (GRCm39) |
Q178* |
probably null |
Het |
| Vax2 |
T |
C |
6: 83,714,885 (GRCm39) |
S267P |
probably damaging |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,298 (GRCm39) |
Y143* |
probably null |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,123 (GRCm39) |
S375P |
possibly damaging |
Het |
| Zc3h6 |
G |
A |
2: 128,835,146 (GRCm39) |
S94N |
possibly damaging |
Het |
|
| Other mutations in Vmn2r44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Vmn2r44
|
APN |
7 |
8,383,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01723:Vmn2r44
|
APN |
7 |
8,380,915 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01767:Vmn2r44
|
APN |
7 |
8,383,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02299:Vmn2r44
|
APN |
7 |
8,380,815 (GRCm39) |
missense |
probably benign |
|
|
IGL02418:Vmn2r44
|
APN |
7 |
8,380,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02829:Vmn2r44
|
APN |
7 |
8,380,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02851:Vmn2r44
|
APN |
7 |
8,386,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03080:Vmn2r44
|
APN |
7 |
8,386,244 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1471:Vmn2r44
|
UTSW |
7 |
8,380,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Vmn2r44
|
UTSW |
7 |
8,383,122 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1932:Vmn2r44
|
UTSW |
7 |
8,370,981 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2354:Vmn2r44
|
UTSW |
7 |
8,373,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4009:Vmn2r44
|
UTSW |
7 |
8,380,987 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4130:Vmn2r44
|
UTSW |
7 |
8,370,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Vmn2r44
|
UTSW |
7 |
8,370,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Vmn2r44
|
UTSW |
7 |
8,383,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4887:Vmn2r44
|
UTSW |
7 |
8,380,985 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4888:Vmn2r44
|
UTSW |
7 |
8,380,985 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5484:Vmn2r44
|
UTSW |
7 |
8,383,123 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6110:Vmn2r44
|
UTSW |
7 |
8,381,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Vmn2r44
|
UTSW |
7 |
8,373,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6526:Vmn2r44
|
UTSW |
7 |
8,381,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7083:Vmn2r44
|
UTSW |
7 |
8,381,369 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7087:Vmn2r44
|
UTSW |
7 |
8,381,366 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7115:Vmn2r44
|
UTSW |
7 |
8,370,527 (GRCm39) |
nonsense |
probably null |
|
|
R7125:Vmn2r44
|
UTSW |
7 |
8,370,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Vmn2r44
|
UTSW |
7 |
8,380,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Vmn2r44
|
UTSW |
7 |
8,370,538 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7494:Vmn2r44
|
UTSW |
7 |
8,386,122 (GRCm39) |
nonsense |
probably null |
|
|
R7766:Vmn2r44
|
UTSW |
7 |
8,371,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7777:Vmn2r44
|
UTSW |
7 |
8,381,314 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8184:Vmn2r44
|
UTSW |
7 |
8,371,227 (GRCm39) |
nonsense |
probably null |
|
|
R8674:Vmn2r44
|
UTSW |
7 |
8,380,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r44
|
UTSW |
7 |
8,370,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Vmn2r44
|
UTSW |
7 |
8,381,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Vmn2r44
|
UTSW |
7 |
8,370,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Vmn2r44
|
UTSW |
7 |
8,381,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Vmn2r44
|
UTSW |
7 |
8,371,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Vmn2r44
|
UTSW |
7 |
8,370,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation