Incidental Mutation 'R4360:Or56a3'
| ID |
324854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or56a3
|
| Ensembl Gene |
ENSMUSG00000096029 |
| Gene Name |
olfactory receptor family 56 subfamily A member 3 |
| Synonyms |
MOR40-2, GA_x6K02T2PBJ9-7714499-7715446, Olfr679 |
| MMRRC Submission |
041111-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4360 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104734925-104735872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 104735460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 179
(E179A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042676]
[ENSMUST00000098158]
[ENSMUST00000214328]
[ENSMUST00000215704]
|
| AlphaFold |
Q8VGV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042676
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098158
AA Change: E179A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095761
Gene: ENSMUSG00000096029
AA Change: E179A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
314 |
1.2e-73 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
311 |
6.2e-10 |
PFAM |
|
Pfam:7tm_1
|
45 |
296 |
1.8e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214328
AA Change: E179A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214738
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215704
AA Change: E179A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.3361 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra3 |
T |
C |
5: 50,147,552 (GRCm39) |
E496G |
possibly damaging |
Het |
| Atg14 |
C |
G |
14: 47,805,827 (GRCm39) |
E13Q |
probably benign |
Het |
| BC023105 |
G |
T |
18: 60,575,073 (GRCm39) |
|
noncoding transcript |
Het |
| Chd6 |
A |
G |
2: 160,791,776 (GRCm39) |
V2527A |
possibly damaging |
Het |
| Csn1s2a |
G |
T |
5: 87,929,700 (GRCm39) |
V100L |
possibly damaging |
Het |
| Fah |
G |
A |
7: 84,238,856 (GRCm39) |
L330F |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,709,583 (GRCm39) |
N268S |
probably damaging |
Het |
| Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,606,052 (GRCm39) |
H287L |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,410,197 (GRCm39) |
|
probably benign |
Het |
| Gm1758 |
A |
T |
16: 14,324,215 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7204 |
T |
C |
16: 48,039,196 (GRCm39) |
|
noncoding transcript |
Het |
| Gm829 |
T |
C |
4: 45,718,819 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Islr |
T |
A |
9: 58,064,887 (GRCm39) |
N207Y |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,106,036 (GRCm39) |
S1546P |
probably damaging |
Het |
| Or13a25 |
T |
C |
7: 140,247,730 (GRCm39) |
F170L |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,787,013 (GRCm39) |
C127Y |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,866,661 (GRCm39) |
D1075G |
possibly damaging |
Het |
| Pkp2 |
A |
G |
16: 16,086,546 (GRCm39) |
I736V |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,599,171 (GRCm39) |
I235T |
probably benign |
Het |
| Polq |
A |
G |
16: 36,880,701 (GRCm39) |
D955G |
probably benign |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Psmd1 |
A |
G |
1: 86,061,459 (GRCm39) |
K890E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scpep1 |
A |
G |
11: 88,821,070 (GRCm39) |
Y366H |
possibly damaging |
Het |
| Slc18a3 |
A |
G |
14: 32,185,882 (GRCm39) |
V167A |
probably benign |
Het |
| Sp8 |
A |
G |
12: 118,812,400 (GRCm39) |
D85G |
possibly damaging |
Het |
| Stard3nl |
G |
A |
13: 19,554,654 (GRCm39) |
S144L |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,930,879 (GRCm39) |
E160G |
possibly damaging |
Het |
| Tbcb |
T |
C |
7: 29,926,460 (GRCm39) |
N119S |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,935,161 (GRCm39) |
R592S |
probably benign |
Het |
| Trem3 |
T |
A |
17: 48,556,801 (GRCm39) |
S91T |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,610,267 (GRCm39) |
E245G |
probably benign |
Het |
| Usp40 |
C |
T |
1: 87,880,083 (GRCm39) |
R1036H |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,654,139 (GRCm39) |
G112C |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,024,149 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,746,456 (GRCm39) |
K555R |
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,349,869 (GRCm39) |
S232G |
probably benign |
Het |
| Zfp811 |
T |
C |
17: 33,017,432 (GRCm39) |
T202A |
probably benign |
Het |
|
| Other mutations in Or56a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02247:Or56a3
|
APN |
7 |
104,735,530 (GRCm39) |
nonsense |
probably null |
|
|
IGL02505:Or56a3
|
APN |
7 |
104,735,540 (GRCm39) |
missense |
probably benign |
|
|
IGL03160:Or56a3
|
APN |
7 |
104,735,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0079:Or56a3
|
UTSW |
7 |
104,735,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Or56a3
|
UTSW |
7 |
104,735,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Or56a3
|
UTSW |
7 |
104,735,509 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3122:Or56a3
|
UTSW |
7 |
104,735,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3828:Or56a3
|
UTSW |
7 |
104,735,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4235:Or56a3
|
UTSW |
7 |
104,734,994 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4485:Or56a3
|
UTSW |
7 |
104,735,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Or56a3
|
UTSW |
7 |
104,735,844 (GRCm39) |
unclassified |
probably benign |
|
|
R5542:Or56a3
|
UTSW |
7 |
104,735,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5599:Or56a3
|
UTSW |
7 |
104,735,757 (GRCm39) |
splice site |
probably null |
|
|
R5723:Or56a3
|
UTSW |
7 |
104,740,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5770:Or56a3
|
UTSW |
7 |
104,740,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5871:Or56a3
|
UTSW |
7 |
104,735,511 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7231:Or56a3
|
UTSW |
7 |
104,734,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7593:Or56a3
|
UTSW |
7 |
104,735,372 (GRCm39) |
missense |
probably benign |
|
|
R7881:Or56a3
|
UTSW |
7 |
104,735,780 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8878:Or56a3
|
UTSW |
7 |
104,735,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Or56a3
|
UTSW |
7 |
104,735,329 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9576:Or56a3
|
UTSW |
7 |
104,735,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9684:Or56a3
|
UTSW |
7 |
104,735,589 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTTCTTGCTATGGAATCTTGC -3'
(R):5'- CCACATGTGCTCAGAGCTTTG -3'
Sequencing Primer
(F):5'- ACATTTATGATCATGGCCTTCGATCG -3'
(R):5'- GCTTTGGCTACAGCACCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation