Mutagenetix > Incidental Mutation

Incidental Mutation 'R3801:Or4k41'

272959

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

040760-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111279487-111280404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111279910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 142 (I142F)

Ref Sequence

ENSEMBL: ENSMUSP00000074850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075390]

AlphaFold

Q7TQY1

Predicted Effect

probably benign
Transcript: ENSMUST00000075390
AA Change: I142F

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074850
Gene: ENSMUSG00000095586
AA Change: I142F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	6.7e-48	PFAM
Pfam:7tm_1	41	287	9.5e-20	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,974,922 (GRCm39)	E54K	probably benign	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,640,246 (GRCm39)	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,778,020 (GRCm39)	Y172H	probably benign	Het
Brd1	C	T	15: 88,601,243 (GRCm39)	V464M	probably damaging	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,829,074 (GRCm39)	D3G	possibly damaging	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Cgrrf1	G	T	14: 47,069,820 (GRCm39)	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,761,715 (GRCm39)	D614G	probably benign	Het
Cyp2c23	C	T	19: 43,995,478 (GRCm39)	V430I	probably benign	Het
Dazl	G	A	17: 50,588,309 (GRCm39)	R289W	probably benign	Het
Dsg1b	C	T	18: 20,523,260 (GRCm39)	P96S	probably damaging	Het
Dusp14	A	G	11: 83,939,535 (GRCm39)	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,206,075 (GRCm39)	D91G	probably benign	Het
Eif1	A	G	11: 100,211,650 (GRCm39)	K95E	probably damaging	Het
Fap	C	T	2: 62,376,994 (GRCm39)	V191I	probably benign	Het
Flnc	T	C	6: 29,447,403 (GRCm39)	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,776,464 (GRCm39)	T526A	possibly damaging	Het
Fras1	A	T	5: 96,881,791 (GRCm39)	T2508S	probably benign	Het
Gast	T	C	11: 100,227,636 (GRCm39)	S73P	probably damaging	Het
Grap2	A	G	15: 80,507,947 (GRCm39)	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,523 (GRCm39)	H132L	probably benign	Het
Iqcm	C	A	8: 76,396,021 (GRCm39)	T188K	possibly damaging	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,621,314 (GRCm39)	R963G	probably benign	Het
Lrtm2	G	A	6: 119,294,444 (GRCm39)	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,646,755 (GRCm39)	D406E	possibly damaging	Het
Meikin	T	A	11: 54,290,697 (GRCm39)		probably null	Het
Mybl1	A	T	1: 9,743,439 (GRCm39)	F538I	probably damaging	Het
Nectin2	T	C	7: 19,451,561 (GRCm39)	D491G	probably benign	Het
Nf1	A	G	11: 79,450,347 (GRCm39)	D511G	probably null	Het
Nid2	T	C	14: 19,860,065 (GRCm39)	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,013,529 (GRCm39)	M574L	probably benign	Het
Nrap	C	T	19: 56,310,211 (GRCm39)	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Phkb	G	T	8: 86,648,858 (GRCm39)	E225*	probably null	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prdm12	A	G	2: 31,541,959 (GRCm39)	K223E	probably damaging	Het
Prkd1	C	A	12: 50,430,205 (GRCm39)	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,250,271 (GRCm39)	I181F	possibly damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Sema4f	A	T	6: 82,895,608 (GRCm39)	H308Q	possibly damaging	Het
Skint4	G	T	4: 111,975,378 (GRCm39)	V113L	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slpi	A	G	2: 164,198,158 (GRCm39)	L12P	probably damaging	Het
Smco1	A	G	16: 32,092,716 (GRCm39)	Y129C	probably benign	Het
Spag17	A	G	3: 99,961,169 (GRCm39)	K985R	possibly damaging	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Tmed4	C	A	11: 6,224,233 (GRCm39)	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,781,800 (GRCm39)		probably null	Het
Top1	A	G	2: 160,544,688 (GRCm39)	H268R	probably damaging	Het
Triobp	A	T	15: 78,857,900 (GRCm39)	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,388,809 (GRCm39)	P536L	possibly damaging	Het
Usp13	C	T	3: 32,935,657 (GRCm39)	A360V	possibly damaging	Het
Vhl	G	A	6: 113,606,423 (GRCm39)	V147I	probably benign	Het
Vldlr	A	T	19: 27,195,021 (GRCm39)	T3S	probably damaging	Het
Vps54	T	A	11: 21,218,832 (GRCm39)	D130E	probably benign	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,669,334 (GRCm39)	N37K	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
R3958:Or4k41	UTSW	2	111,280,230 (GRCm39)	missense	possibly damaging	0.50
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'- AGGCAACCTCTTTGTTGTGATATTG -3'
(R):5'- GTTGCCAAAACACCACTGTC -3'

Sequencing Primer
(F):5'- ACCTCTTTGTTGTGATATTGATCATC -3'
(R):5'- AACACCACTGTCAGCATTTATTAG -3'

Posted On

2015-03-25