Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01343:Or8k40'

74926

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8k40

Ensembl Gene

ENSMUSG00000075172

Gene Name

olfactory receptor family 8 subfamily K member 40

Synonyms

MOR188-4, GA_x6K02T2Q125-48247345-48246404, Olfr1090

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

86584139-86585080 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 86584843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 80 (K80*)

Ref Sequence

ENSEMBL: ENSMUSP00000149968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099875] [ENSMUST00000215991] [ENSMUST00000217043]

AlphaFold

Q8VGA6

Predicted Effect

probably null
Transcript: ENSMUST00000099875
AA Change: K80*

SMART Domains

Protein: ENSMUSP00000097460
Gene: ENSMUSG00000075172
AA Change: K80*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.4e-47	PFAM
Pfam:7tm_1	41	290	7.1e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000215991
AA Change: K80*

Predicted Effect

probably null
Transcript: ENSMUST00000217043
AA Change: K80*

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,033,416 (GRCm39)		probably benign	Het
Adgrf1	T	A	17: 43,624,086 (GRCm39)	F835L	probably null	Het
Akp3	G	T	1: 87,054,858 (GRCm39)		probably benign	Het
BC106179	G	T	16: 23,043,037 (GRCm39)		probably benign	Het
Bysl	C	A	17: 47,912,814 (GRCm39)	M325I	probably benign	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Crnn	A	G	3: 93,055,633 (GRCm39)	R140G	probably benign	Het
Cts8	T	C	13: 61,397,010 (GRCm39)		probably benign	Het
Cxcr4	T	C	1: 128,517,292 (GRCm39)	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,812,150 (GRCm39)	T691A	probably benign	Het
Dhx30	A	T	9: 109,915,313 (GRCm39)	F782I	probably benign	Het
Efcab5	C	T	11: 77,020,756 (GRCm39)	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,252,570 (GRCm39)	V381I	probably benign	Het
Enpp3	A	T	10: 24,681,820 (GRCm39)	Y295*	probably null	Het
Fbxo28	T	C	1: 182,144,577 (GRCm39)	E329G	probably damaging	Het
Fcgbpl1	A	G	7: 27,850,127 (GRCm39)	Q1191R	probably benign	Het
Fmnl2	T	A	2: 53,013,557 (GRCm39)	V972D	probably damaging	Het
Fmr1	A	G	X: 67,731,901 (GRCm39)	D22G	probably damaging	Het
Fsip2	A	G	2: 82,830,163 (GRCm39)	T6886A	possibly damaging	Het
Gadl1	A	G	9: 115,903,180 (GRCm39)	*503W	probably null	Het
Gpc6	A	T	14: 117,424,224 (GRCm39)	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,866,135 (GRCm39)	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,922,586 (GRCm39)	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,765,806 (GRCm39)	N412K	probably damaging	Het
Marco	C	T	1: 120,422,469 (GRCm39)		probably null	Het
Mdga2	T	C	12: 66,769,883 (GRCm39)	T206A	probably damaging	Het
Mogat2	C	A	7: 98,881,775 (GRCm39)	A54S	possibly damaging	Het
Myh15	T	A	16: 48,976,040 (GRCm39)	D1369E	probably benign	Het
Nckap1	A	T	2: 80,350,186 (GRCm39)	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,216,312 (GRCm39)		probably null	Het
Nfrkb	C	A	9: 31,300,250 (GRCm39)	L14I	probably damaging	Het
Notch1	C	A	2: 26,362,917 (GRCm39)	A950S	probably benign	Het
Notch3	T	C	17: 32,362,410 (GRCm39)	E1405G	probably benign	Het
Nsd2	C	A	5: 34,000,922 (GRCm39)	D146E	probably damaging	Het
Oc90	T	C	15: 65,761,440 (GRCm39)	T193A	probably benign	Het
Or7c70	A	T	10: 78,683,431 (GRCm39)	V106E	probably damaging	Het
Or8g50	C	A	9: 39,649,011 (GRCm39)	A300D	probably damaging	Het
Orc2	A	T	1: 58,532,014 (GRCm39)		probably null	Het
Pacsin2	T	C	15: 83,270,887 (GRCm39)	H254R	probably damaging	Het
Pif1	T	A	9: 65,496,844 (GRCm39)	M319K	probably damaging	Het
Prag1	G	A	8: 36,570,200 (GRCm39)	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,474,700 (GRCm39)	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,490,399 (GRCm39)	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 64,380,349 (GRCm39)	Q828*	probably null	Het
Skint6	A	G	4: 113,140,823 (GRCm39)	V6A	probably benign	Het
Slc16a13	A	G	11: 70,111,340 (GRCm39)	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,644,516 (GRCm39)	W490R	probably damaging	Het
Speer4b	G	T	5: 27,702,881 (GRCm39)	H208N	probably benign	Het
Tas2r124	T	C	6: 132,732,378 (GRCm39)	L229S	probably damaging	Het
Tlr4	T	C	4: 66,752,124 (GRCm39)		probably benign	Het
Tmed1	G	T	9: 21,421,369 (GRCm39)	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,445,779 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,052,247 (GRCm39)	S250P	possibly damaging	Het
Zfp516	A	G	18: 83,011,221 (GRCm39)	T1085A	probably damaging	Het
Znfx1	T	C	2: 166,879,283 (GRCm39)	I1698V	probably benign	Het
Zswim8	G	T	14: 20,763,409 (GRCm39)	W385C	probably damaging	Het

Other mutations in Or8k40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Or8k40	APN	2	86,584,314 (GRCm39)	missense	probably benign	0.42
IGL01431:Or8k40	APN	2	86,584,508 (GRCm39)	missense	probably benign	0.12
IGL01771:Or8k40	APN	2	86,584,626 (GRCm39)	missense	probably benign	0.15
IGL03182:Or8k40	APN	2	86,584,366 (GRCm39)	missense	probably damaging	1.00
IGL03229:Or8k40	APN	2	86,584,360 (GRCm39)	missense	probably damaging	1.00
R0126:Or8k40	UTSW	2	86,584,981 (GRCm39)	missense	probably damaging	0.99
R0128:Or8k40	UTSW	2	86,584,231 (GRCm39)	missense	probably benign	0.39
R0130:Or8k40	UTSW	2	86,584,231 (GRCm39)	missense	probably benign	0.39
R1383:Or8k40	UTSW	2	86,584,838 (GRCm39)	missense	possibly damaging	0.80
R2100:Or8k40	UTSW	2	86,584,905 (GRCm39)	missense	possibly damaging	0.80
R2125:Or8k40	UTSW	2	86,584,796 (GRCm39)	missense	probably benign	0.00
R2126:Or8k40	UTSW	2	86,584,796 (GRCm39)	missense	probably benign	0.00
R2249:Or8k40	UTSW	2	86,584,398 (GRCm39)	missense	probably damaging	0.98
R3695:Or8k40	UTSW	2	86,584,215 (GRCm39)	missense	probably damaging	1.00
R3878:Or8k40	UTSW	2	86,584,972 (GRCm39)	missense	probably benign	0.02
R3940:Or8k40	UTSW	2	86,584,275 (GRCm39)	missense	possibly damaging	0.52
R3944:Or8k40	UTSW	2	86,584,525 (GRCm39)	missense	probably benign	0.17
R3975:Or8k40	UTSW	2	86,584,887 (GRCm39)	missense	probably damaging	0.99
R4387:Or8k40	UTSW	2	86,584,464 (GRCm39)	missense	probably benign	0.42
R4623:Or8k40	UTSW	2	86,584,906 (GRCm39)	missense	possibly damaging	0.80
R4740:Or8k40	UTSW	2	86,584,155 (GRCm39)	missense	probably benign	0.00
R6775:Or8k40	UTSW	2	86,584,921 (GRCm39)	missense	probably damaging	1.00
R7002:Or8k40	UTSW	2	86,585,025 (GRCm39)	missense	probably benign	0.01
R7746:Or8k40	UTSW	2	86,584,437 (GRCm39)	missense	probably damaging	1.00
R8296:Or8k40	UTSW	2	86,584,893 (GRCm39)	missense	probably damaging	0.99
R9038:Or8k40	UTSW	2	86,584,354 (GRCm39)	missense	probably damaging	1.00
R9243:Or8k40	UTSW	2	86,584,282 (GRCm39)	missense	possibly damaging	0.78

Posted On

2013-10-07