Incidental Mutation 'R9315:Or4d5'
| ID |
705847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4d5
|
| Ensembl Gene |
ENSMUSG00000045812 |
| Gene Name |
olfactory receptor family 4 subfamily D member 5 |
| Synonyms |
Olfr984, MOR239-6, GA_x6K02T2PVTD-33799484-33798540 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R9315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40011840-40012784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40012270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 172
(D172G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056795]
[ENSMUST00000213858]
[ENSMUST00000214856]
[ENSMUST00000217536]
|
| AlphaFold |
Q8VFN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056795
AA Change: D172G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000060787
Gene: ENSMUSG00000045812
AA Change: D172G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
1.3e-42 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
6e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213858
AA Change: D172G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214856
AA Change: D172G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217536
AA Change: D172G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,265,576 (GRCm39) |
R153H |
possibly damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,398,360 (GRCm39) |
S1730L |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,287 (GRCm39) |
E509G |
probably damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,213,670 (GRCm39) |
A30S |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,263,214 (GRCm39) |
S109P |
probably damaging |
Het |
| Coa7 |
T |
A |
4: 108,195,581 (GRCm39) |
L170Q |
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,540,544 (GRCm39) |
I1334N |
unknown |
Het |
| Col6a3 |
A |
G |
1: 90,738,979 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
A |
G |
4: 96,420,035 (GRCm39) |
I232T |
probably benign |
Het |
| Ddx52 |
T |
A |
11: 83,837,033 (GRCm39) |
S175T |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,143,341 (GRCm39) |
S434F |
probably benign |
Het |
| Epn1 |
T |
C |
7: 5,096,339 (GRCm39) |
V211A |
probably benign |
Het |
| Fads2b |
C |
A |
2: 85,319,188 (GRCm39) |
K371N |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,285,548 (GRCm39) |
N429S |
probably benign |
Het |
| Ifng |
A |
T |
10: 118,278,588 (GRCm39) |
D83V |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,156,840 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
| Ldlr |
T |
A |
9: 21,644,782 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,760,911 (GRCm39) |
V4992A |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,248,969 (GRCm39) |
C168* |
probably null |
Het |
| Msantd5f3 |
A |
T |
4: 73,575,280 (GRCm39) |
R320* |
probably null |
Het |
| Mug1 |
T |
A |
6: 121,850,730 (GRCm39) |
V742D |
possibly damaging |
Het |
| Mxd1 |
T |
C |
6: 86,627,926 (GRCm39) |
D204G |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,801,811 (GRCm39) |
A1322D |
possibly damaging |
Het |
| Nepn |
T |
A |
10: 52,267,869 (GRCm39) |
I45N |
probably benign |
Het |
| Or13a22 |
T |
C |
7: 140,072,935 (GRCm39) |
I128T |
probably damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,495 (GRCm39) |
C167* |
probably null |
Het |
| Paip1 |
A |
G |
13: 119,586,516 (GRCm39) |
E271G |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,119 (GRCm39) |
N444S |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,488,921 (GRCm39) |
T705A |
possibly damaging |
Het |
| Pik3r1 |
A |
G |
13: 101,894,166 (GRCm39) |
M1T |
probably null |
Het |
| Rab33b |
T |
G |
3: 51,401,000 (GRCm39) |
V158G |
probably damaging |
Het |
| Rab6a |
A |
G |
7: 100,281,017 (GRCm39) |
I120V |
probably benign |
Het |
| Radil |
G |
T |
5: 142,474,254 (GRCm39) |
H731N |
probably damaging |
Het |
| Rbm4b |
T |
C |
19: 4,812,028 (GRCm39) |
S146P |
probably damaging |
Het |
| Rrn3 |
T |
C |
16: 13,606,690 (GRCm39) |
Y99H |
probably benign |
Het |
| Saxo4 |
T |
A |
19: 10,458,767 (GRCm39) |
S88C |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,283,553 (GRCm39) |
T1504K |
possibly damaging |
Het |
| Tas1r2 |
A |
G |
4: 139,381,046 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,403,644 (GRCm39) |
I386V |
probably null |
Het |
| Tns1 |
A |
G |
1: 73,980,141 (GRCm39) |
C11R |
|
Het |
| Wdr11 |
A |
G |
7: 129,208,264 (GRCm39) |
T340A |
probably benign |
Het |
| Zbtb49 |
A |
G |
5: 38,358,082 (GRCm39) |
S724P |
probably benign |
Het |
| Zfp446 |
A |
G |
7: 12,713,397 (GRCm39) |
K221R |
probably benign |
Het |
|
| Other mutations in Or4d5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Or4d5
|
APN |
9 |
40,012,450 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01402:Or4d5
|
APN |
9 |
40,012,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01404:Or4d5
|
APN |
9 |
40,012,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01445:Or4d5
|
APN |
9 |
40,012,608 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01448:Or4d5
|
APN |
9 |
40,012,378 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02598:Or4d5
|
APN |
9 |
40,011,861 (GRCm39) |
missense |
probably benign |
|
|
IGL03106:Or4d5
|
APN |
9 |
40,012,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Or4d5
|
UTSW |
9 |
40,012,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0712:Or4d5
|
UTSW |
9 |
40,012,726 (GRCm39) |
missense |
probably benign |
|
|
R2049:Or4d5
|
UTSW |
9 |
40,012,415 (GRCm39) |
missense |
probably benign |
|
|
R2938:Or4d5
|
UTSW |
9 |
40,012,039 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4609:Or4d5
|
UTSW |
9 |
40,012,102 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4907:Or4d5
|
UTSW |
9 |
40,011,955 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5001:Or4d5
|
UTSW |
9 |
40,012,523 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5174:Or4d5
|
UTSW |
9 |
40,012,043 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5587:Or4d5
|
UTSW |
9 |
40,012,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5880:Or4d5
|
UTSW |
9 |
40,012,543 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5896:Or4d5
|
UTSW |
9 |
40,012,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6611:Or4d5
|
UTSW |
9 |
40,012,316 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6904:Or4d5
|
UTSW |
9 |
40,012,652 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7015:Or4d5
|
UTSW |
9 |
40,012,751 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7870:Or4d5
|
UTSW |
9 |
40,011,973 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8191:Or4d5
|
UTSW |
9 |
40,012,767 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8739:Or4d5
|
UTSW |
9 |
40,012,636 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8799:Or4d5
|
UTSW |
9 |
40,011,985 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9307:Or4d5
|
UTSW |
9 |
40,012,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9497:Or4d5
|
UTSW |
9 |
40,011,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9554:Or4d5
|
UTSW |
9 |
40,012,160 (GRCm39) |
missense |
probably benign |
|
|
R9568:Or4d5
|
UTSW |
9 |
40,011,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACCACAGTAATGTGAGAGG -3'
(R):5'- GCTGACTGTCATGGCGTATG -3'
Sequencing Primer
(F):5'- ACCCTCTTTTGAGTGACTTCGGAG -3'
(R):5'- CATGGCGTATGACCGTTACATAGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation