Incidental Mutation 'R3958:Or4k41'
| ID |
310794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k41
|
| Ensembl Gene |
ENSMUSG00000095586 |
| Gene Name |
olfactory receptor family 4 subfamily K member 41 |
| Synonyms |
MOR248-15, GA_x6K02T2Q125-72500603-72501520, Olfr1287 |
| MMRRC Submission |
040834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R3958 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111279487-111280404 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 111280230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 248
(L248F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075390]
|
| AlphaFold |
Q7TQY1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075390
AA Change: L248F
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074850
Gene: ENSMUSG00000095586
AA Change: L248F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
6.7e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
9.5e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
G |
17: 33,652,738 (GRCm39) |
K266R |
probably benign |
Het |
| Cebpd |
T |
C |
16: 15,705,327 (GRCm39) |
S47P |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,364,028 (GRCm39) |
R345H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,611 (GRCm39) |
V183A |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Glyat |
A |
T |
19: 12,617,197 (GRCm39) |
K16N |
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,206,120 (GRCm39) |
|
noncoding transcript |
Het |
| Grin1 |
G |
A |
2: 25,203,465 (GRCm39) |
T182M |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,751,331 (GRCm39) |
V319A |
unknown |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,884 (GRCm39) |
Q18* |
probably null |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,753,430 (GRCm39) |
T141M |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,153,641 (GRCm39) |
E2428G |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,276,804 (GRCm39) |
V119A |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,657,786 (GRCm39) |
D1048G |
probably damaging |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,546,583 (GRCm39) |
V305D |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
| Prmt8 |
G |
A |
6: 127,709,707 (GRCm39) |
T51I |
probably benign |
Het |
| Rgl3 |
T |
C |
9: 21,886,885 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Selp |
T |
C |
1: 163,953,855 (GRCm39) |
S52P |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,837 (GRCm39) |
I615T |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,183 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tmem106b |
A |
T |
6: 13,081,587 (GRCm39) |
N165Y |
probably damaging |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,852 (GRCm39) |
I110V |
probably damaging |
Het |
|
| Other mutations in Or4k41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Or4k41
|
APN |
2 |
111,280,234 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01748:Or4k41
|
APN |
2 |
111,279,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Or4k41
|
APN |
2 |
111,280,207 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02371:Or4k41
|
APN |
2 |
111,280,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Or4k41
|
APN |
2 |
111,279,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Or4k41
|
APN |
2 |
111,279,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0368:Or4k41
|
UTSW |
2 |
111,280,133 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1520:Or4k41
|
UTSW |
2 |
111,279,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2036:Or4k41
|
UTSW |
2 |
111,279,971 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2890:Or4k41
|
UTSW |
2 |
111,279,634 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3757:Or4k41
|
UTSW |
2 |
111,279,602 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3801:Or4k41
|
UTSW |
2 |
111,279,910 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4077:Or4k41
|
UTSW |
2 |
111,279,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4763:Or4k41
|
UTSW |
2 |
111,280,023 (GRCm39) |
nonsense |
probably null |
|
|
R4955:Or4k41
|
UTSW |
2 |
111,279,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Or4k41
|
UTSW |
2 |
111,280,028 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5046:Or4k41
|
UTSW |
2 |
111,279,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5512:Or4k41
|
UTSW |
2 |
111,280,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5708:Or4k41
|
UTSW |
2 |
111,280,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Or4k41
|
UTSW |
2 |
111,280,406 (GRCm39) |
splice site |
probably null |
|
|
R5780:Or4k41
|
UTSW |
2 |
111,280,178 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6981:Or4k41
|
UTSW |
2 |
111,279,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7073:Or4k41
|
UTSW |
2 |
111,279,631 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7633:Or4k41
|
UTSW |
2 |
111,279,967 (GRCm39) |
missense |
probably benign |
|
|
R7963:Or4k41
|
UTSW |
2 |
111,279,971 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8121:Or4k41
|
UTSW |
2 |
111,279,505 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8889:Or4k41
|
UTSW |
2 |
111,279,967 (GRCm39) |
missense |
probably benign |
|
|
R8892:Or4k41
|
UTSW |
2 |
111,279,967 (GRCm39) |
missense |
probably benign |
|
|
R9036:Or4k41
|
UTSW |
2 |
111,280,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF037:Or4k41
|
UTSW |
2 |
111,279,896 (GRCm39) |
missense |
not run |
|
|
RF039:Or4k41
|
UTSW |
2 |
111,279,896 (GRCm39) |
missense |
not run |
|
|
Z1088:Or4k41
|
UTSW |
2 |
111,279,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Or4k41
|
UTSW |
2 |
111,280,129 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCTAGAGTGATAGACAGC -3'
(R):5'- CAGAATTCACAAGTGGTTTATCAGC -3'
Sequencing Primer
(F):5'- GCCTGCATGAATACTGATACTCTGG -3'
(R):5'- AAGTGGTTTATCAGCTTCTTTATGGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation