Incidental Mutation 'R1177:Or10d4'
| ID |
100067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10d4
|
| Ensembl Gene |
ENSMUSG00000064110 |
| Gene Name |
olfactory receptor family 10 subfamily D member 4 |
| Synonyms |
MOR224-13, GA_x6K02T2PVTD-33365879-33366814, Olfr963, MOR224-7P |
| MMRRC Submission |
039249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1177 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
39580355-39581290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39580937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 195
(R195G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073433]
[ENSMUST00000215649]
|
| AlphaFold |
Q7TRA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073433
AA Change: R195G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000073139
Gene: ENSMUSG00000064110
AA Change: R195G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
304 |
1.7e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
2.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215649
AA Change: R195G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 94.9%
- 20x: 87.7%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs7 |
A |
T |
3: 36,664,329 (GRCm39) |
|
probably null |
Het |
| Bivm |
G |
A |
1: 44,182,123 (GRCm39) |
V444I |
probably benign |
Het |
| Cers4 |
A |
G |
8: 4,566,931 (GRCm39) |
I78V |
probably null |
Het |
| Chgb |
A |
G |
2: 132,635,390 (GRCm39) |
Y444C |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,791,509 (GRCm39) |
V1161A |
unknown |
Het |
| Dpp6 |
A |
G |
5: 27,868,471 (GRCm39) |
D478G |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,902 (GRCm39) |
V274A |
probably damaging |
Het |
| Fkrp |
T |
C |
7: 16,544,452 (GRCm39) |
E470G |
probably damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,754,702 (GRCm39) |
I159T |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,671,577 (GRCm39) |
Q955L |
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,232,968 (GRCm39) |
S1115P |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,756,927 (GRCm39) |
F1048S |
probably damaging |
Het |
| Mthfd1l |
A |
C |
10: 3,935,661 (GRCm39) |
K212T |
possibly damaging |
Het |
| Myo5b |
G |
A |
18: 74,777,143 (GRCm39) |
R401H |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,563,572 (GRCm39) |
S531N |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,998,547 (GRCm39) |
V884A |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,740,091 (GRCm39) |
M161K |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,109,310 (GRCm39) |
T1618A |
probably benign |
Het |
| Or2b4 |
A |
T |
17: 38,116,843 (GRCm39) |
E269V |
probably benign |
Het |
| Or4c105 |
A |
G |
2: 88,647,704 (GRCm39) |
Y63C |
probably benign |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,582 (GRCm39) |
A115T |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,623 (GRCm39) |
R840G |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,259,879 (GRCm39) |
Q629L |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,196,646 (GRCm39) |
|
probably null |
Het |
| Spag1 |
A |
T |
15: 36,234,913 (GRCm39) |
T859S |
probably benign |
Het |
| Sv2c |
G |
T |
13: 96,126,271 (GRCm39) |
A327E |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tlr2 |
A |
G |
3: 83,746,041 (GRCm39) |
I14T |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,065,028 (GRCm39) |
V1688A |
possibly damaging |
Het |
| Zfhx4 |
ACCTCCTCCTCCTCCTCCTCC |
ACCTCCTCCTCCTCCTCC |
3: 5,465,891 (GRCm39) |
|
probably benign |
Het |
| Zfp94 |
T |
C |
7: 24,002,953 (GRCm39) |
Y163C |
probably damaging |
Het |
|
| Other mutations in Or10d4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02043:Or10d4
|
APN |
9 |
39,580,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03007:Or10d4
|
APN |
9 |
39,580,767 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1378:Or10d4
|
UTSW |
9 |
39,580,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Or10d4
|
UTSW |
9 |
39,581,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2016:Or10d4
|
UTSW |
9 |
39,580,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Or10d4
|
UTSW |
9 |
39,580,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2393:Or10d4
|
UTSW |
9 |
39,580,569 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5464:Or10d4
|
UTSW |
9 |
39,581,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Or10d4
|
UTSW |
9 |
39,581,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5935:Or10d4
|
UTSW |
9 |
39,580,386 (GRCm39) |
missense |
probably benign |
|
|
R7756:Or10d4
|
UTSW |
9 |
39,580,371 (GRCm39) |
missense |
probably benign |
|
|
R7758:Or10d4
|
UTSW |
9 |
39,580,371 (GRCm39) |
missense |
probably benign |
|
|
R7775:Or10d4
|
UTSW |
9 |
39,580,534 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7778:Or10d4
|
UTSW |
9 |
39,580,534 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8695:Or10d4
|
UTSW |
9 |
39,580,376 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8921:Or10d4
|
UTSW |
9 |
39,580,737 (GRCm39) |
nonsense |
probably null |
|
|
R9133:Or10d4
|
UTSW |
9 |
39,580,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9487:Or10d4
|
UTSW |
9 |
39,580,611 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation