Mutagenetix > Incidental Mutation

Incidental Mutation 'R5708:Or4k41'

452062

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

043333-MU

Accession Numbers

Essential gene?

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

Stock #

R5708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111279487-111280404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111280354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 290 (R290G)

Ref Sequence

ENSEMBL: ENSMUSP00000074850 (fasta)

Gene Model

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

AlphaFold

Q7TQY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000075390
AA Change: R290G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074850
Gene: ENSMUSG00000095586
AA Change: R290G

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

0.7394

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	A	G	8: 84,729,627 (GRCm39)	K101R	probably benign	Het
4933430I17Rik	T	C	4: 62,444,106 (GRCm39)	S18P	probably benign	Het
Adgb	C	T	10: 10,267,501 (GRCm39)	V940I	probably damaging	Het
Aox4	G	T	1: 58,285,032 (GRCm39)	A595S	possibly damaging	Het
Asxl2	T	A	12: 3,550,603 (GRCm39)	S782T	possibly damaging	Het
C1s2	A	T	6: 124,602,702 (GRCm39)	L503*	probably null	Het
C7	A	G	15: 5,044,883 (GRCm39)	V385A	possibly damaging	Het
Cdh20	T	C	1: 104,912,635 (GRCm39)	F630L	probably damaging	Het
Cdk14	A	C	5: 5,316,036 (GRCm39)		probably benign	Het
Cdkl4	T	C	17: 80,846,951 (GRCm39)	I239M	possibly damaging	Het
Cfap299	A	T	5: 98,885,566 (GRCm39)	M158L	probably benign	Het
Col11a1	A	G	3: 113,890,743 (GRCm39)	N360S	unknown	Het
D630003M21Rik	A	G	2: 158,062,312 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,422,016 (GRCm39)	P135S	probably damaging	Het
Dpysl2	A	G	14: 67,050,595 (GRCm39)	S421P	probably benign	Het
Edn1	A	T	13: 42,457,143 (GRCm39)	M59L	probably benign	Het
EU599041	A	G	7: 42,875,311 (GRCm39)		noncoding transcript	Het
Furin	A	G	7: 80,047,603 (GRCm39)		probably benign	Het
Gkn2	T	C	6: 87,354,418 (GRCm39)	L94P	probably damaging	Het
Gmeb2	A	T	2: 180,906,782 (GRCm39)	C117S	probably damaging	Het
Greb1	T	A	12: 16,723,843 (GRCm39)	I1869F	probably benign	Het
Heg1	A	G	16: 33,562,774 (GRCm39)	E1119G	probably damaging	Het
Hmgcs2	T	A	3: 98,198,478 (GRCm39)	L127Q	probably damaging	Het
Insyn2a	C	A	7: 134,520,525 (GRCm39)	V2F	probably damaging	Het
Kcnh6	A	G	11: 105,911,082 (GRCm39)	R493G	probably benign	Het
Kcnj11	C	T	7: 45,749,242 (GRCm39)	R27H	probably benign	Het
Klra14-ps	A	G	6: 130,134,751 (GRCm39)		noncoding transcript	Het
Lgmn	A	T	12: 102,370,587 (GRCm39)	N114K	possibly damaging	Het
Lipg	C	T	18: 75,088,505 (GRCm39)	M148I	possibly damaging	Het
Megf8	G	T	7: 25,034,022 (GRCm39)	R607L	probably benign	Het
Mks1	A	G	11: 87,747,665 (GRCm39)	T183A	probably benign	Het
Mllt11	A	G	3: 95,127,515 (GRCm39)	V85A	probably benign	Het
Mpo	A	T	11: 87,692,581 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,575,515 (GRCm39)		probably benign	Het
Myoz3	T	C	18: 60,712,104 (GRCm39)	Y158C	probably damaging	Het
Or11g25	A	T	14: 50,723,452 (GRCm39)	D179V	probably damaging	Het
Or5ae1	A	G	7: 84,565,391 (GRCm39)	I135V	possibly damaging	Het
Polq	T	A	16: 36,881,380 (GRCm39)	S902R	probably damaging	Het
Rarb	T	C	14: 16,548,545 (GRCm38)	T93A	probably damaging	Het
Rgs12	A	G	5: 35,123,696 (GRCm39)	D493G	probably benign	Het
Sec31b	T	A	19: 44,511,583 (GRCm39)	D606V	probably damaging	Het
Setd2	T	C	9: 110,377,891 (GRCm39)	F569L	possibly damaging	Het
Sil1	T	C	18: 35,474,170 (GRCm39)	E149G	probably benign	Het
Spata13	T	G	14: 60,929,452 (GRCm39)	S337A	probably damaging	Het
Srfbp1	T	A	18: 52,622,018 (GRCm39)	L360M	probably damaging	Het
Tecta	A	T	9: 42,250,222 (GRCm39)	C1852S	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,360 (GRCm39)	T208A	probably damaging	Het
Tmem38b	G	C	4: 53,849,051 (GRCm39)		probably null	Het
Tnfrsf11a	T	A	1: 105,741,545 (GRCm39)		probably null	Het
Tnik	T	A	3: 28,666,120 (GRCm39)		probably null	Het
Tsc1	A	T	2: 28,555,197 (GRCm39)		probably benign	Het
Zfp930	T	C	8: 69,679,113 (GRCm39)	V41A	probably benign	Het
Zscan18	A	T	7: 12,508,383 (GRCm39)	D372E	probably benign	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
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'- GGTTCATCAAAGGCATTATCTACATGC -3'
(R):5'- AGAATTAGGATCGGCATATTGGC -3'

Sequencing Primer
(F):5'- TGCACATCCCATATCATAGTGG -3'
(R):5'- GGATCGGCATATTGGCATATAATG -3'

Posted On

2017-01-03