Incidental Mutation 'R1419:Or4a15'
| ID |
159975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a15
|
| Ensembl Gene |
ENSMUSG00000075090 |
| Gene Name |
olfactory receptor family 4 subfamily A member 15 |
| Synonyms |
Olfr1234, MOR231-2, GA_x6K02T2Q125-50805620-50804676 |
| MMRRC Submission |
039475-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R1419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
89190357-89195209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89193666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 36
(T36A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099783]
[ENSMUST00000111543]
[ENSMUST00000137692]
|
| AlphaFold |
A2AVK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099783
AA Change: T36A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097371
Gene: ENSMUSG00000075090
AA Change: T36A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
285 |
5.9e-32 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
1.5e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111543
AA Change: T36A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107168
Gene: ENSMUSG00000075090
AA Change: T36A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
3.2e-46 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
7.2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137692
AA Change: T36A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,974,125 (GRCm39) |
M894K |
probably benign |
Het |
| Ablim1 |
C |
A |
19: 57,123,065 (GRCm39) |
C173F |
probably damaging |
Het |
| Abtb2 |
G |
T |
2: 103,539,765 (GRCm39) |
R710L |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,111,485 (GRCm39) |
T1144A |
possibly damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,938,516 (GRCm39) |
V92D |
probably damaging |
Het |
| Ash1l |
T |
G |
3: 88,892,204 (GRCm39) |
M1361R |
probably damaging |
Het |
| Atm |
A |
C |
9: 53,368,789 (GRCm39) |
N2337K |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,555,215 (GRCm39) |
E316G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,370,671 (GRCm39) |
Y858C |
probably damaging |
Het |
| Enc1 |
G |
T |
13: 97,382,692 (GRCm39) |
G401C |
probably damaging |
Het |
| Gata6 |
T |
C |
18: 11,064,706 (GRCm39) |
V506A |
probably benign |
Het |
| Gm16380 |
C |
T |
9: 53,791,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b8 |
G |
A |
17: 34,246,617 (GRCm39) |
R89C |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,847,531 (GRCm39) |
N322Y |
probably damaging |
Het |
| Igsf9 |
T |
A |
1: 172,325,578 (GRCm39) |
V1082E |
probably damaging |
Het |
| Katnal2 |
A |
T |
18: 77,065,128 (GRCm39) |
L481Q |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,417,710 (GRCm39) |
T713A |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,978,711 (GRCm39) |
T230A |
probably damaging |
Het |
| Klhl14 |
C |
A |
18: 21,785,250 (GRCm39) |
R59L |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,035,038 (GRCm39) |
C213R |
probably damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,397,717 (GRCm39) |
M178L |
probably benign |
Het |
| Myof |
T |
C |
19: 37,890,359 (GRCm39) |
E1971G |
probably damaging |
Het |
| Naa10 |
A |
G |
X: 72,961,522 (GRCm39) |
V133A |
probably damaging |
Het |
| Nlrp4g |
G |
A |
9: 124,349,434 (GRCm38) |
|
noncoding transcript |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,182,120 (GRCm39) |
I1047V |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,640 (GRCm39) |
F260I |
probably benign |
Het |
| Or5al1 |
A |
G |
2: 85,989,773 (GRCm39) |
*314Q |
probably null |
Het |
| Paip1 |
A |
G |
13: 119,593,553 (GRCm39) |
D189G |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,400,151 (GRCm39) |
F624L |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,943,454 (GRCm39) |
P1899H |
probably damaging |
Het |
| Rpa3 |
T |
A |
6: 8,257,720 (GRCm39) |
E47D |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,064,457 (GRCm39) |
T826A |
possibly damaging |
Het |
| Snai2 |
C |
T |
16: 14,526,044 (GRCm39) |
H232Y |
possibly damaging |
Het |
| Spint5 |
T |
C |
2: 164,557,331 (GRCm39) |
S23P |
possibly damaging |
Het |
| St8sia2 |
G |
A |
7: 73,616,742 (GRCm39) |
Q78* |
probably null |
Het |
| Tktl2 |
A |
G |
8: 66,965,690 (GRCm39) |
N416S |
probably damaging |
Het |
| Tm7sf3 |
T |
A |
6: 146,505,475 (GRCm39) |
I494F |
possibly damaging |
Het |
| Trf |
C |
T |
9: 103,103,307 (GRCm39) |
V119M |
probably damaging |
Het |
|
| Other mutations in Or4a15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02134:Or4a15
|
APN |
2 |
89,193,172 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0945:Or4a15
|
UTSW |
2 |
89,193,599 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1018:Or4a15
|
UTSW |
2 |
89,193,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1872:Or4a15
|
UTSW |
2 |
89,192,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Or4a15
|
UTSW |
2 |
89,193,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2143:Or4a15
|
UTSW |
2 |
89,193,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3499:Or4a15
|
UTSW |
2 |
89,193,294 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3776:Or4a15
|
UTSW |
2 |
89,193,108 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4595:Or4a15
|
UTSW |
2 |
89,193,669 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6287:Or4a15
|
UTSW |
2 |
89,193,363 (GRCm39) |
nonsense |
probably null |
|
|
R7256:Or4a15
|
UTSW |
2 |
89,192,838 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7516:Or4a15
|
UTSW |
2 |
89,193,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7636:Or4a15
|
UTSW |
2 |
89,193,583 (GRCm39) |
nonsense |
probably null |
|
|
R7975:Or4a15
|
UTSW |
2 |
89,193,413 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8240:Or4a15
|
UTSW |
2 |
89,192,896 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8514:Or4a15
|
UTSW |
2 |
89,193,573 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8680:Or4a15
|
UTSW |
2 |
89,193,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8780:Or4a15
|
UTSW |
2 |
89,193,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8898:Or4a15
|
UTSW |
2 |
89,192,957 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9402:Or4a15
|
UTSW |
2 |
89,193,123 (GRCm39) |
nonsense |
probably null |
|
|
R9434:Or4a15
|
UTSW |
2 |
89,193,692 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9451:Or4a15
|
UTSW |
2 |
89,193,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Or4a15
|
UTSW |
2 |
89,193,065 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACATAACGGTCATAGGCCATC -3'
(R):5'- TCTGAGTAACCAAGCATGGGAGAATTG -3'
Sequencing Primer
(F):5'- TTGAGTCATACAAGCCCGGAAG -3'
(R):5'- TGGTGAGAAAATTACCACATTATAGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation