Incidental Mutation 'IGL03122:Or2n1d'
| ID |
409995 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2n1d
|
| Ensembl Gene |
ENSMUSG00000096840 |
| Gene Name |
olfactory receptor family 2 subfamily N member 1D |
| Synonyms |
Olfr136, MOR256-7, GA_x6K02T2PSCP-2779375-2780313 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL03122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
38646050-38646988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38646192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 48
(V48A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077203]
[ENSMUST00000208525]
[ENSMUST00000208539]
[ENSMUST00000214035]
[ENSMUST00000216963]
|
| AlphaFold |
Q8VG72 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077203
AA Change: V48A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000076443
Gene: ENSMUSG00000096840
AA Change: V48A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.6e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7.1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208525
AA Change: V48A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208539
AA Change: V48A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214035
AA Change: V48A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216963
AA Change: V48A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
G |
A |
16: 56,590,725 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,866,902 (GRCm39) |
D719G |
probably benign |
Het |
| Amph |
C |
T |
13: 19,287,113 (GRCm39) |
T274M |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,414 (GRCm39) |
D396E |
possibly damaging |
Het |
| Atpaf1 |
T |
C |
4: 115,648,475 (GRCm39) |
I164T |
probably damaging |
Het |
| Avpr1b |
C |
A |
1: 131,528,257 (GRCm39) |
P260Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,189,305 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,741,963 (GRCm39) |
I449V |
probably damaging |
Het |
| Ccdc24 |
A |
G |
4: 117,728,942 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,798,243 (GRCm39) |
Q84R |
possibly damaging |
Het |
| Cenpk |
C |
A |
13: 104,378,885 (GRCm39) |
Q134K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,438,007 (GRCm39) |
N373D |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,751 (GRCm39) |
S1042T |
unknown |
Het |
| Cry2 |
G |
A |
2: 92,243,640 (GRCm39) |
R439C |
probably damaging |
Het |
| Dip2a |
G |
T |
10: 76,110,880 (GRCm39) |
D1138E |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,089,018 (GRCm39) |
S205P |
possibly damaging |
Het |
| Echdc2 |
T |
A |
4: 108,022,777 (GRCm39) |
S18T |
probably benign |
Het |
| Efcab2 |
T |
A |
1: 178,265,042 (GRCm39) |
V36E |
probably damaging |
Het |
| Galk1 |
A |
T |
11: 115,901,065 (GRCm39) |
|
probably null |
Het |
| Hoxc11 |
A |
T |
15: 102,863,390 (GRCm39) |
N144Y |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,305,884 (GRCm39) |
C824S |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,663 (GRCm39) |
S401G |
probably benign |
Het |
| Kcnn1 |
T |
G |
8: 71,307,724 (GRCm39) |
D106A |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,943,959 (GRCm39) |
N754S |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,478,439 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,659 (GRCm39) |
C395G |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,461 (GRCm39) |
M71K |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,801 (GRCm39) |
M211V |
probably benign |
Het |
| Or9q1 |
A |
G |
19: 13,805,014 (GRCm39) |
S249P |
possibly damaging |
Het |
| Scel |
A |
G |
14: 103,836,842 (GRCm39) |
R477G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,732,894 (GRCm39) |
S984P |
probably damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,782,040 (GRCm38) |
|
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,872 (GRCm39) |
S65P |
probably damaging |
Het |
| Tnip2 |
T |
C |
5: 34,661,095 (GRCm39) |
E119G |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,381,782 (GRCm39) |
L310M |
possibly damaging |
Het |
|
| Other mutations in Or2n1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Or2n1d
|
APN |
17 |
38,646,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01787:Or2n1d
|
APN |
17 |
38,646,470 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02480:Or2n1d
|
APN |
17 |
38,646,314 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02603:Or2n1d
|
APN |
17 |
38,646,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Or2n1d
|
UTSW |
17 |
38,646,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB019:Or2n1d
|
UTSW |
17 |
38,646,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0295:Or2n1d
|
UTSW |
17 |
38,646,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Or2n1d
|
UTSW |
17 |
38,646,735 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1874:Or2n1d
|
UTSW |
17 |
38,646,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3436:Or2n1d
|
UTSW |
17 |
38,646,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3437:Or2n1d
|
UTSW |
17 |
38,646,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Or2n1d
|
UTSW |
17 |
38,646,731 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4715:Or2n1d
|
UTSW |
17 |
38,646,731 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4716:Or2n1d
|
UTSW |
17 |
38,646,731 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4878:Or2n1d
|
UTSW |
17 |
38,646,518 (GRCm39) |
missense |
probably benign |
|
|
R5296:Or2n1d
|
UTSW |
17 |
38,646,347 (GRCm39) |
nonsense |
probably null |
|
|
R5370:Or2n1d
|
UTSW |
17 |
38,646,335 (GRCm39) |
nonsense |
probably null |
|
|
R5413:Or2n1d
|
UTSW |
17 |
38,646,515 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5988:Or2n1d
|
UTSW |
17 |
38,646,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Or2n1d
|
UTSW |
17 |
38,646,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6550:Or2n1d
|
UTSW |
17 |
38,646,896 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7395:Or2n1d
|
UTSW |
17 |
38,646,755 (GRCm39) |
nonsense |
probably null |
|
|
R7417:Or2n1d
|
UTSW |
17 |
38,646,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7746:Or2n1d
|
UTSW |
17 |
38,646,285 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7747:Or2n1d
|
UTSW |
17 |
38,646,285 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7821:Or2n1d
|
UTSW |
17 |
38,646,855 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7932:Or2n1d
|
UTSW |
17 |
38,646,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8409:Or2n1d
|
UTSW |
17 |
38,646,197 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8911:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8912:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8913:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8914:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8968:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9006:Or2n1d
|
UTSW |
17 |
38,646,723 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9044:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9110:Or2n1d
|
UTSW |
17 |
38,646,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Or2n1d
|
UTSW |
17 |
38,646,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9279:Or2n1d
|
UTSW |
17 |
38,646,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9289:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9295:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9317:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9318:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9348:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9409:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9410:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9411:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9412:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9413:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9512:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9522:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9524:Or2n1d
|
UTSW |
17 |
38,646,540 (GRCm39) |
nonsense |
probably null |
|
|
R9547:Or2n1d
|
UTSW |
17 |
38,646,341 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9580:Or2n1d
|
UTSW |
17 |
38,646,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
V5088:Or2n1d
|
UTSW |
17 |
38,646,050 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
Z1176:Or2n1d
|
UTSW |
17 |
38,646,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation