Incidental Mutation 'PIT4243001:Or1ad6'
| ID |
554467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1ad6
|
| Ensembl Gene |
ENSMUSG00000050343 |
| Gene Name |
olfactory receptor family 1 subfamily AD member 6 |
| Synonyms |
Olfr1378, GA_x6K02T2QP88-4469162-4468215, MOR129-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
PIT4243001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
50859847-50860794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50860379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 178
(F178S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052285]
[ENSMUST00000213259]
|
| AlphaFold |
Q8VGH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052285
AA Change: F178S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058119
Gene: ENSMUSG00000050343
AA Change: F178S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
5.1e-54 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213259
AA Change: F178S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 85.2%
- 20x: 74.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,999 (GRCm39) |
E252V |
possibly damaging |
Het |
| Abhd13 |
T |
C |
8: 10,037,967 (GRCm39) |
F188S |
possibly damaging |
Het |
| Abtb1 |
A |
G |
6: 88,815,708 (GRCm39) |
V225A |
probably benign |
Het |
| Accs |
A |
G |
2: 93,671,679 (GRCm39) |
M237T |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,236,271 (GRCm39) |
I380T |
probably damaging |
Het |
| Add3 |
T |
C |
19: 53,225,121 (GRCm39) |
S414P |
probably benign |
Het |
| Ak3 |
C |
T |
19: 29,015,271 (GRCm39) |
|
probably null |
Het |
| Atg14 |
T |
C |
14: 47,792,031 (GRCm39) |
E132G |
possibly damaging |
Het |
| Bcl2l11 |
A |
G |
2: 127,989,026 (GRCm39) |
E135G |
probably benign |
Het |
| Brwd1 |
G |
A |
16: 95,803,871 (GRCm39) |
Q2100* |
probably null |
Het |
| Card11 |
A |
C |
5: 140,894,359 (GRCm39) |
V90G |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,709,507 (GRCm39) |
V1451A |
probably benign |
Het |
| Clip4 |
T |
C |
17: 72,113,723 (GRCm39) |
I291T |
probably damaging |
Het |
| Clk1 |
C |
T |
1: 58,458,836 (GRCm39) |
D179N |
probably damaging |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,302 (GRCm39) |
L454P |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,883,446 (GRCm39) |
S663P |
unknown |
Het |
| Erich6 |
G |
A |
3: 58,537,300 (GRCm39) |
T238I |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,489 (GRCm39) |
H132Q |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,707,858 (GRCm39) |
C704R |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,575,141 (GRCm39) |
R531W |
possibly damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,832 (GRCm39) |
E71G |
probably benign |
Het |
| Lipe |
A |
C |
7: 25,094,971 (GRCm39) |
S22A |
probably benign |
Het |
| Myl10 |
A |
G |
5: 136,723,147 (GRCm39) |
D32G |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,693,705 (GRCm39) |
H179R |
probably damaging |
Het |
| Or2n1b |
T |
C |
17: 38,460,394 (GRCm39) |
F305S |
probably benign |
Het |
| Pdpn |
T |
A |
4: 142,997,108 (GRCm39) |
T129S |
probably damaging |
Het |
| Pold1 |
C |
T |
7: 44,191,582 (GRCm39) |
V135I |
possibly damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,807,134 (GRCm39) |
N199K |
probably damaging |
Het |
| Skil |
T |
C |
3: 31,167,714 (GRCm39) |
S449P |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,892,540 (GRCm39) |
L107P |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,087 (GRCm39) |
M430T |
probably damaging |
Het |
| Tnfaip3 |
G |
A |
10: 18,887,322 (GRCm39) |
L68F |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,733,781 (GRCm39) |
R878H |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,467,480 (GRCm39) |
S476P |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,802,379 (GRCm39) |
M499L |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,638,631 (GRCm39) |
T571A |
probably damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,096 (GRCm39) |
G948V |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,841,975 (GRCm39) |
I852V |
probably benign |
Het |
|
| Other mutations in Or1ad6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Or1ad6
|
APN |
11 |
50,859,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0540:Or1ad6
|
UTSW |
11 |
50,860,670 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0607:Or1ad6
|
UTSW |
11 |
50,860,670 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0699:Or1ad6
|
UTSW |
11 |
50,860,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0719:Or1ad6
|
UTSW |
11 |
50,860,761 (GRCm39) |
nonsense |
probably null |
|
|
R2117:Or1ad6
|
UTSW |
11 |
50,860,147 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2263:Or1ad6
|
UTSW |
11 |
50,860,696 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3402:Or1ad6
|
UTSW |
11 |
50,859,895 (GRCm39) |
missense |
probably benign |
|
|
R3767:Or1ad6
|
UTSW |
11 |
50,860,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Or1ad6
|
UTSW |
11 |
50,860,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Or1ad6
|
UTSW |
11 |
50,860,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4293:Or1ad6
|
UTSW |
11 |
50,860,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Or1ad6
|
UTSW |
11 |
50,860,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Or1ad6
|
UTSW |
11 |
50,860,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Or1ad6
|
UTSW |
11 |
50,860,093 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4732:Or1ad6
|
UTSW |
11 |
50,860,093 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4733:Or1ad6
|
UTSW |
11 |
50,860,093 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5437:Or1ad6
|
UTSW |
11 |
50,859,935 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6085:Or1ad6
|
UTSW |
11 |
50,859,950 (GRCm39) |
missense |
|
|
|
R6648:Or1ad6
|
UTSW |
11 |
50,860,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Or1ad6
|
UTSW |
11 |
50,860,152 (GRCm39) |
nonsense |
probably null |
|
|
R7686:Or1ad6
|
UTSW |
11 |
50,860,582 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8440:Or1ad6
|
UTSW |
11 |
50,860,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Or1ad6
|
UTSW |
11 |
50,860,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Or1ad6
|
UTSW |
11 |
50,859,950 (GRCm39) |
missense |
|
|
|
R9663:Or1ad6
|
UTSW |
11 |
50,860,165 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9711:Or1ad6
|
UTSW |
11 |
50,860,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Or1ad6
|
UTSW |
11 |
50,860,481 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGATGGCTTCCTCCTG -3'
(R):5'- CCCACAAGTAGACAGGGCTTTC -3'
Sequencing Primer
(F):5'- GATGGCCTATGACCGCTATG -3'
(R):5'- AAGTAGACAGGGCTTTCCTTATTCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation