Incidental Mutation 'R6531:Or1j15'
| ID |
522313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1j15
|
| Ensembl Gene |
ENSMUSG00000096822 |
| Gene Name |
olfactory receptor family 1 subfamily J member 15 |
| Synonyms |
MOR136-12, Olfr344, GA_x6K02T2NLDC-33262744-33263673 |
| MMRRC Submission |
044657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R6531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
36458612-36459541 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36459353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 248
(V248I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075474]
[ENSMUST00000215879]
|
| AlphaFold |
Q8VFP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075474
AA Change: V248I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074919
Gene: ENSMUSG00000096822
AA Change: V248I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.7e-56 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.1e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215879
AA Change: V248I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (46/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,926,980 (GRCm39) |
E880G |
possibly damaging |
Het |
| Acsbg2 |
T |
A |
17: 57,153,617 (GRCm39) |
I529F |
probably damaging |
Het |
| Ahcyl2 |
T |
G |
6: 29,886,161 (GRCm39) |
M359R |
probably benign |
Het |
| Aldh5a1 |
G |
T |
13: 25,102,547 (GRCm39) |
D305E |
probably benign |
Het |
| Catsper2 |
C |
G |
2: 121,230,261 (GRCm39) |
V358L |
possibly damaging |
Het |
| Cd200r4 |
C |
T |
16: 44,653,868 (GRCm39) |
Q222* |
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,458,135 (GRCm39) |
D270E |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,303,973 (GRCm39) |
D1401G |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,035,027 (GRCm39) |
M235K |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,844,415 (GRCm39) |
D895G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,584,354 (GRCm39) |
F586L |
probably damaging |
Het |
| Elmo1 |
G |
T |
13: 20,756,616 (GRCm39) |
R568L |
possibly damaging |
Het |
| Epb41 |
T |
C |
4: 131,684,947 (GRCm39) |
T711A |
probably benign |
Het |
| Grm7 |
T |
A |
6: 111,335,386 (GRCm39) |
M599K |
probably benign |
Het |
| Hivep3 |
A |
T |
4: 119,980,073 (GRCm39) |
K1704* |
probably null |
Het |
| Ighv1-62-3 |
C |
A |
12: 115,424,626 (GRCm39) |
C115F |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,860,708 (GRCm39) |
Y200H |
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,360,925 (GRCm39) |
H549L |
possibly damaging |
Het |
| Mroh3 |
A |
G |
1: 136,112,091 (GRCm39) |
I759T |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nol6 |
G |
T |
4: 41,118,154 (GRCm39) |
P828T |
probably benign |
Het |
| Or4c3 |
A |
G |
2: 89,851,801 (GRCm39) |
V203A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,651 (GRCm39) |
I156V |
probably benign |
Het |
| Or8w1 |
A |
G |
2: 87,465,873 (GRCm39) |
Y73H |
probably damaging |
Het |
| Ovgp1 |
A |
C |
3: 105,894,387 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,962,313 (GRCm39) |
Q230L |
possibly damaging |
Het |
| Pkn1 |
C |
T |
8: 84,396,922 (GRCm39) |
V910I |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,167,722 (GRCm39) |
|
probably null |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,788 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
T |
A |
1: 131,172,551 (GRCm39) |
Q106L |
possibly damaging |
Het |
| Rfc1 |
T |
C |
5: 65,470,322 (GRCm39) |
K62E |
possibly damaging |
Het |
| Sf3b1 |
C |
T |
1: 55,058,554 (GRCm39) |
E12K |
probably damaging |
Het |
| Slc4a1ap |
A |
T |
5: 31,705,982 (GRCm39) |
D691V |
probably benign |
Het |
| Speg |
T |
A |
1: 75,399,401 (GRCm39) |
F2283I |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,937,615 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
G |
17: 6,084,114 (GRCm39) |
K267E |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,711,211 (GRCm39) |
Y991F |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,572,427 (GRCm39) |
D380E |
probably benign |
Het |
| Trim43b |
A |
T |
9: 88,967,418 (GRCm39) |
L405H |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,863,576 (GRCm39) |
I586T |
probably damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,229,445 (GRCm39) |
R213S |
probably damaging |
Het |
| Vmn1r198 |
T |
A |
13: 22,538,577 (GRCm39) |
M21K |
probably benign |
Het |
| Wdr35 |
A |
T |
12: 9,028,685 (GRCm39) |
Y101F |
probably benign |
Het |
| Zfp367 |
T |
C |
13: 64,292,064 (GRCm39) |
Y189C |
probably damaging |
Het |
|
| Other mutations in Or1j15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01093:Or1j15
|
APN |
2 |
36,458,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01450:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01452:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01458:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01466:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01470:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01476:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01477:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01478:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01480:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01481:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01487:Or1j15
|
APN |
2 |
36,458,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01522:Or1j15
|
APN |
2 |
36,459,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02141:Or1j15
|
APN |
2 |
36,458,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02510:Or1j15
|
APN |
2 |
36,458,693 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02896:Or1j15
|
APN |
2 |
36,459,217 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03032:Or1j15
|
APN |
2 |
36,458,716 (GRCm39) |
nonsense |
probably null |
|
|
R0081:Or1j15
|
UTSW |
2 |
36,458,893 (GRCm39) |
nonsense |
probably null |
|
|
R0581:Or1j15
|
UTSW |
2 |
36,458,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Or1j15
|
UTSW |
2 |
36,459,568 (GRCm39) |
splice site |
probably null |
|
|
R1503:Or1j15
|
UTSW |
2 |
36,458,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Or1j15
|
UTSW |
2 |
36,458,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2320:Or1j15
|
UTSW |
2 |
36,458,637 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4088:Or1j15
|
UTSW |
2 |
36,459,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5243:Or1j15
|
UTSW |
2 |
36,458,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Or1j15
|
UTSW |
2 |
36,458,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5948:Or1j15
|
UTSW |
2 |
36,459,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6115:Or1j15
|
UTSW |
2 |
36,458,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Or1j15
|
UTSW |
2 |
36,459,128 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6198:Or1j15
|
UTSW |
2 |
36,458,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7075:Or1j15
|
UTSW |
2 |
36,459,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7193:Or1j15
|
UTSW |
2 |
36,459,248 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7329:Or1j15
|
UTSW |
2 |
36,458,708 (GRCm39) |
missense |
probably benign |
|
|
R7659:Or1j15
|
UTSW |
2 |
36,458,637 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8251:Or1j15
|
UTSW |
2 |
36,459,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8383:Or1j15
|
UTSW |
2 |
36,459,014 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8507:Or1j15
|
UTSW |
2 |
36,459,443 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8698:Or1j15
|
UTSW |
2 |
36,458,915 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8837:Or1j15
|
UTSW |
2 |
36,458,703 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9087:Or1j15
|
UTSW |
2 |
36,459,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Or1j15
|
UTSW |
2 |
36,458,988 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACTTTGCTGAAGCTGTCCAG -3'
(R):5'- CTAGCCATTTAAGGGGAAGCAG -3'
Sequencing Primer
(F):5'- TGTCCAGCTCAGACACCAC -3'
(R):5'- AGCAGAAGGTAGATCATTGTGTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation