Incidental Mutation 'R8721:Or4a74'
| ID |
662105 |
| 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 |
068717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R8721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
89439433-89440497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89440186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 87
(K87E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099771]
[ENSMUST00000111532]
[ENSMUST00000216424]
|
| AlphaFold |
A2AT78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099771
AA Change: K87E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000097359
Gene: ENSMUSG00000075081
AA Change: K87E
| 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 benign
Transcript: ENSMUST00000111532
AA Change: K87E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081
AA Change: K87E
| 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 benign
Transcript: ENSMUST00000216424
AA Change: K87E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,035,115 (GRCm39) |
D684G |
possibly damaging |
Het |
| Abhd16a |
T |
C |
17: 35,310,571 (GRCm39) |
V94A |
possibly damaging |
Het |
| Acly |
A |
T |
11: 100,412,806 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
G |
T |
16: 85,594,775 (GRCm39) |
T621K |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,023,565 (GRCm39) |
T200S |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,427,058 (GRCm39) |
V598A |
probably benign |
Het |
| Ascc1 |
T |
C |
10: 59,933,928 (GRCm39) |
F323S |
possibly damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,879,335 (GRCm39) |
S1785P |
unknown |
Het |
| Ces2b |
T |
A |
8: 105,560,527 (GRCm39) |
V114D |
possibly damaging |
Het |
| Cfap73 |
T |
C |
5: 120,768,089 (GRCm39) |
E223G |
probably benign |
Het |
| Csnk1e |
T |
C |
15: 79,314,015 (GRCm39) |
N78S |
possibly damaging |
Het |
| Cyp7a1 |
G |
T |
4: 6,268,273 (GRCm39) |
A484E |
probably damaging |
Het |
| Dnah9 |
G |
T |
11: 65,986,124 (GRCm39) |
T1170K |
probably damaging |
Het |
| Fam83d |
G |
T |
2: 158,627,522 (GRCm39) |
V404L |
probably benign |
Het |
| Fbxw28 |
C |
T |
9: 109,157,382 (GRCm39) |
V289I |
probably benign |
Het |
| Frs2 |
T |
G |
10: 116,909,935 (GRCm39) |
I476L |
probably benign |
Het |
| Gbp2b |
A |
T |
3: 142,312,705 (GRCm39) |
I363F |
possibly damaging |
Het |
| Gm8267 |
A |
T |
14: 44,959,507 (GRCm39) |
F186I |
possibly damaging |
Het |
| Hand1 |
A |
G |
11: 57,722,605 (GRCm39) |
L3P |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,315,189 (GRCm39) |
L3671F |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,982,922 (GRCm39) |
D260G |
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,111,619 (GRCm39) |
K440E |
probably damaging |
Het |
| Morn4 |
A |
T |
19: 42,066,439 (GRCm39) |
N49K |
possibly damaging |
Het |
| Mtmr6 |
T |
G |
14: 60,527,128 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
T |
16: 34,817,176 (GRCm39) |
D1848V |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,140,064 (GRCm39) |
V242A |
probably damaging |
Het |
| Or8g19 |
T |
G |
9: 39,055,386 (GRCm39) |
|
probably benign |
Het |
| Rmdn3 |
T |
A |
2: 118,969,846 (GRCm39) |
Q405L |
possibly damaging |
Het |
| Robo2 |
A |
G |
16: 73,703,798 (GRCm39) |
S30P |
|
Het |
| Suclg1 |
G |
T |
6: 73,246,362 (GRCm39) |
L218F |
probably damaging |
Het |
| Tas2r134 |
T |
C |
2: 51,517,571 (GRCm39) |
S17P |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,002,889 (GRCm39) |
L846P |
probably damaging |
Het |
| Tgfbi |
A |
G |
13: 56,773,599 (GRCm39) |
N199S |
probably benign |
Het |
| Traj35 |
C |
T |
14: 54,421,272 (GRCm39) |
T14I |
|
Het |
| Tril |
A |
G |
6: 53,797,183 (GRCm39) |
V13A |
probably benign |
Het |
| Tshz2 |
T |
A |
2: 169,727,278 (GRCm39) |
S625T |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,784 (GRCm39) |
F464L |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,075,044 (GRCm39) |
|
probably null |
Het |
| Zfp346 |
A |
G |
13: 55,261,491 (GRCm39) |
S94G |
possibly damaging |
Het |
| Zfp429 |
T |
A |
13: 67,538,331 (GRCm39) |
Y371F |
probably damaging |
Het |
| Zscan4-ps2 |
A |
T |
7: 11,251,522 (GRCm39) |
E186V |
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 |
|
R5128:Or4a74
|
UTSW |
2 |
89,439,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCAGAGCATGTGCAAATCCC -3'
(R):5'- AGAATTTGTCCTTCTGGGCC -3'
Sequencing Primer
(F):5'- GAGCATGTGCAAATCCCCCAAC -3'
(R):5'- CTCAGGATCCTACTGGGCAAAAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation