Incidental Mutation 'R5128:Or4a74'
| ID |
394848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a74
|
| Ensembl Gene |
ENSMUSG00000075081 |
| Gene Name |
olfactory receptor family 4 subfamily A member 74 |
| Synonyms |
GA_x6K02T2Q125-51051555-51050611, Olfr1247, MOR231-6 |
| MMRRC Submission |
042716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5128 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89439433-89440497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89439647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 266
(D266E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099771]
[ENSMUST00000111532]
[ENSMUST00000216424]
|
| AlphaFold |
A2AT78 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099771
AA Change: D266E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097359
Gene: ENSMUSG00000075081
AA Change: D266E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
285 |
4.9e-29 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
4.2e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111532
AA Change: D266E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081
AA Change: D266E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
1.2e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216424
AA Change: D266E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4616 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (48/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,639,070 (GRCm39) |
S958P |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,994,451 (GRCm39) |
L5245P |
probably damaging |
Het |
| Alg5 |
T |
A |
3: 54,649,558 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
A |
G |
2: 128,501,837 (GRCm39) |
V735A |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,866,793 (GRCm39) |
T1099A |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,277,767 (GRCm39) |
S2062A |
probably damaging |
Het |
| Chrna9 |
A |
G |
5: 66,128,565 (GRCm39) |
S258G |
probably benign |
Het |
| Ctcfl |
T |
C |
2: 172,959,189 (GRCm39) |
E179G |
probably benign |
Het |
| Dcdc2a |
C |
A |
13: 25,286,512 (GRCm39) |
A145E |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,773,028 (GRCm39) |
I343T |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,018,152 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
T |
C |
6: 83,037,548 (GRCm39) |
L374P |
probably damaging |
Het |
| Entpd5 |
A |
T |
12: 84,441,464 (GRCm39) |
F101L |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,567,468 (GRCm39) |
|
probably benign |
Het |
| Fgf1 |
C |
A |
18: 38,975,078 (GRCm39) |
V124L |
probably benign |
Het |
| Gm16380 |
C |
T |
9: 53,791,397 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
G |
A |
6: 64,642,982 (GRCm39) |
A915T |
probably benign |
Het |
| Inhbc |
A |
T |
10: 127,193,611 (GRCm39) |
M135K |
probably benign |
Het |
| Mertk |
C |
A |
2: 128,580,167 (GRCm39) |
T207K |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,983,187 (GRCm39) |
T498I |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,167,034 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
G |
T |
11: 71,170,421 (GRCm39) |
|
noncoding transcript |
Het |
| Nphp4 |
T |
A |
4: 152,587,448 (GRCm39) |
I267N |
probably benign |
Het |
| Obox8 |
A |
G |
7: 14,066,015 (GRCm39) |
W168R |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,248 (GRCm39) |
V188E |
probably damaging |
Het |
| Or8c8 |
T |
C |
9: 38,164,866 (GRCm39) |
L48P |
probably damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,570,262 (GRCm39) |
|
probably benign |
Het |
| Palld |
T |
C |
8: 62,173,622 (GRCm39) |
T346A |
probably damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,609,702 (GRCm39) |
S412P |
probably benign |
Het |
| Potefam1 |
G |
A |
2: 110,994,674 (GRCm39) |
Q251* |
probably null |
Het |
| Scn3a |
T |
C |
2: 65,338,862 (GRCm39) |
S606G |
probably benign |
Het |
| Slc12a7 |
G |
T |
13: 73,953,552 (GRCm39) |
S754I |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,081,736 (GRCm39) |
*489R |
probably null |
Het |
| Tnn |
A |
T |
1: 159,950,464 (GRCm39) |
V714E |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
| Ttc16 |
T |
A |
2: 32,653,009 (GRCm39) |
I550F |
probably benign |
Het |
| Vit |
T |
C |
17: 78,932,575 (GRCm39) |
S561P |
probably damaging |
Het |
| Zdhhc1 |
T |
A |
8: 106,210,268 (GRCm39) |
I50F |
probably benign |
Het |
| Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
| Zfp597 |
G |
A |
16: 3,689,988 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or4a74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01101:Or4a74
|
APN |
2 |
89,440,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01337:Or4a74
|
APN |
2 |
89,439,720 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02537:Or4a74
|
APN |
2 |
89,439,739 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02651:Or4a74
|
APN |
2 |
89,439,842 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02734:Or4a74
|
APN |
2 |
89,440,303 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03177:Or4a74
|
APN |
2 |
89,439,826 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03184:Or4a74
|
APN |
2 |
89,439,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Or4a74
|
UTSW |
2 |
89,440,207 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0278:Or4a74
|
UTSW |
2 |
89,440,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Or4a74
|
UTSW |
2 |
89,440,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Or4a74
|
UTSW |
2 |
89,439,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0633:Or4a74
|
UTSW |
2 |
89,439,718 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1824:Or4a74
|
UTSW |
2 |
89,439,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Or4a74
|
UTSW |
2 |
89,440,053 (GRCm39) |
nonsense |
probably null |
|
|
R2073:Or4a74
|
UTSW |
2 |
89,439,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2074:Or4a74
|
UTSW |
2 |
89,439,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2075:Or4a74
|
UTSW |
2 |
89,439,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3921:Or4a74
|
UTSW |
2 |
89,439,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4559:Or4a74
|
UTSW |
2 |
89,440,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5140:Or4a74
|
UTSW |
2 |
89,439,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Or4a74
|
UTSW |
2 |
89,440,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Or4a74
|
UTSW |
2 |
89,439,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5902:Or4a74
|
UTSW |
2 |
89,439,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Or4a74
|
UTSW |
2 |
89,439,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Or4a74
|
UTSW |
2 |
89,440,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7221:Or4a74
|
UTSW |
2 |
89,440,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7599:Or4a74
|
UTSW |
2 |
89,439,571 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8709:Or4a74
|
UTSW |
2 |
89,440,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8711:Or4a74
|
UTSW |
2 |
89,440,291 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8721:Or4a74
|
UTSW |
2 |
89,440,186 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9278:Or4a74
|
UTSW |
2 |
89,439,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Or4a74
|
UTSW |
2 |
89,440,349 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCACCTTCAATAGTCATAAAGAACG -3'
(R):5'- ATTGGCCTCACGGTAGTTGC -3'
Sequencing Primer
(F):5'- ATCCTGTTATCAACTCAAGAACTTG -3'
(R):5'- GCCTCACGGTAGTTGCCAATAATG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation