Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Or4k41'

589741

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

045721-MU

Accession Numbers

Essential gene?

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

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111279487-111280404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111279967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 161 (I161V)

Ref Sequence

ENSEMBL: ENSMUSP00000074850 (fasta)

Gene Model

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

AlphaFold

Q7TQY1

Predicted Effect

probably benign
Transcript: ENSMUST00000075390
AA Change: I161V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074850
Gene: ENSMUSG00000095586
AA Change: I161V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dcxr	A	C	11: 120,617,279 (GRCm39)	L88R	probably benign	Het
Dedd	C	T	1: 171,166,478 (GRCm39)	P138L	probably benign	Het
Degs1	A	G	1: 182,107,263 (GRCm39)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,296,662 (GRCm39)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Nup155	C	G	15: 8,138,937 (GRCm39)	S3W	probably damaging	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trim59	T	A	3: 68,945,259 (GRCm39)	H27L	probably damaging	Het
Trpv2	G	A	11: 62,481,832 (GRCm39)		probably null	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het
Zfp954	A	T	7: 7,118,823 (GRCm39)	F240L	possibly 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
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
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'- CATGAGCCAGATCCTCTGTG -3'
(R):5'- TGCCTTTGATGAACCATCTTTAGAG -3'

Sequencing Primer
(F):5'- ATGAGCCAGATCCTCTGTGTGTAC -3'
(R):5'- CCATCTTTAGAGTGAAGTTGAACAG -3'

Posted On

2019-10-24