Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01404:Or5k8'

278389

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5k8

Ensembl Gene

ENSMUSG00000060663

Gene Name

olfactory receptor family 5 subfamily K member 8

Synonyms

GA_x54KRFPKG5P-55026345-55025418, MOR184-10P, MOR184-1, GA_x54KRFPKG5P-54993816-54992890, Olfr175-ps1, Olfr175, Olfr174

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL01404

Quality Score

Status

Chromosome

Chromosomal Location

58644144-58647124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58644958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 38 (T38I)

Ref Sequence

ENSEMBL: ENSMUSP00000150202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079955] [ENSMUST00000215069]

AlphaFold

A0A140T8K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000079955
AA Change: T38I

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

SMART Domains

Protein: ENSMUSP00000078873
Gene: ENSMUSG00000060663
AA Change: T38I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.3e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	305	6.8e-6	PFAM
Pfam:7tm_1	41	290	2.5e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215069
AA Change: T38I

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

Meta Mutation Damage Score

0.4653

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,211,152 (GRCm39)		probably null	Het
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Adam2	C	T	14: 66,314,659 (GRCm39)		probably null	Het
Adgre4	A	T	17: 56,104,639 (GRCm39)	N235I	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
B430306N03Rik	A	G	17: 48,628,101 (GRCm39)	Y177C	probably damaging	Het
Cast	A	T	13: 74,886,406 (GRCm39)	Y249*	probably null	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa4	T	C	6: 30,581,701 (GRCm39)	I216T	possibly damaging	Het
Cpeb3	T	C	19: 37,065,948 (GRCm39)	D407G	probably benign	Het
Ctnnal1	T	C	4: 56,829,590 (GRCm39)	D413G	probably damaging	Het
Cyb5a	A	G	18: 84,895,985 (GRCm39)	S84G	probably benign	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,975,972 (GRCm39)	S641T	probably damaging	Het
Espn	T	A	4: 152,222,901 (GRCm39)	T326S	probably benign	Het
Extl1	T	C	4: 134,086,514 (GRCm39)	M514V	probably benign	Het
Fancc	G	A	13: 63,509,452 (GRCm39)	L134F	probably damaging	Het
Fis1	C	T	5: 136,994,828 (GRCm39)	A90V	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gjc3	A	G	5: 137,956,120 (GRCm39)	F55S	probably damaging	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kcp	C	A	6: 29,496,638 (GRCm39)	C624F	probably damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mib2	T	A	4: 155,739,393 (GRCm39)	E862V	probably damaging	Het
Myh1	G	T	11: 67,112,977 (GRCm39)	R1827L	possibly damaging	Het
Myh10	T	C	11: 68,642,866 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,706 (GRCm39)	I559T	probably damaging	Het
Nod2	A	T	8: 89,390,364 (GRCm39)	M224L	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or52n4	A	T	7: 104,293,687 (GRCm39)	Y295*	probably null	Het
Pex7	G	T	10: 19,770,557 (GRCm39)		probably benign	Het
Ptprb	A	T	10: 116,175,341 (GRCm39)	D1112V	probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sec14l2	T	C	11: 4,066,710 (GRCm39)	D34G	possibly damaging	Het
Serpina3k	A	G	12: 104,306,882 (GRCm39)	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,007,690 (GRCm39)	K18N	probably damaging	Het
Sh3bp5l	A	T	11: 58,236,886 (GRCm39)	H281L	probably benign	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
Slc2a1	T	A	4: 118,989,435 (GRCm39)	M45K	possibly damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Trabd2b	A	G	4: 114,457,153 (GRCm39)	I357V	probably benign	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r103	A	G	17: 20,032,696 (GRCm39)	I823M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Vwa3b	C	T	1: 37,193,117 (GRCm39)	T11I	probably benign	Het
Vwf	A	C	6: 125,654,933 (GRCm39)	Q2543P	probably damaging	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het
Zfyve9	T	G	4: 108,539,348 (GRCm39)	Y975S	probably damaging	Het

Other mutations in Or5k8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Or5k8	APN	16	58,644,958 (GRCm39)	missense	probably damaging	1.00
IGL01867:Or5k8	APN	16	58,644,337 (GRCm39)	missense	probably damaging	1.00
IGL02073:Or5k8	APN	16	58,644,169 (GRCm39)	missense	probably benign
IGL02393:Or5k8	APN	16	58,644,409 (GRCm39)	missense	probably damaging	0.99
IGL02474:Or5k8	APN	16	58,645,019 (GRCm39)	missense	probably benign
IGL02548:Or5k8	APN	16	58,644,691 (GRCm39)	missense	probably benign	0.42
IGL02948:Or5k8	APN	16	58,644,451 (GRCm39)	missense	probably benign	0.00
PIT4504001:Or5k8	UTSW	16	58,644,671 (GRCm39)	missense	probably benign	0.00
R0553:Or5k8	UTSW	16	58,644,518 (GRCm39)	missense	probably damaging	0.99
R1191:Or5k8	UTSW	16	58,644,922 (GRCm39)	missense	probably benign
R1201:Or5k8	UTSW	16	58,644,226 (GRCm39)	missense	probably damaging	0.98
R1458:Or5k8	UTSW	16	58,645,039 (GRCm39)	missense	probably null	0.68
R1469:Or5k8	UTSW	16	58,644,973 (GRCm39)	missense	probably benign
R1469:Or5k8	UTSW	16	58,644,973 (GRCm39)	missense	probably benign
R1843:Or5k8	UTSW	16	58,644,440 (GRCm39)	missense	probably damaging	0.99
R2147:Or5k8	UTSW	16	58,644,842 (GRCm39)	missense	probably damaging	0.99
R2421:Or5k8	UTSW	16	58,644,709 (GRCm39)	missense	probably damaging	1.00
R4370:Or5k8	UTSW	16	58,644,956 (GRCm39)	missense	probably benign	0.00
R4621:Or5k8	UTSW	16	58,644,469 (GRCm39)	missense	possibly damaging	0.94
R4622:Or5k8	UTSW	16	58,644,469 (GRCm39)	missense	possibly damaging	0.94
R4623:Or5k8	UTSW	16	58,644,469 (GRCm39)	missense	possibly damaging	0.94
R4711:Or5k8	UTSW	16	58,645,069 (GRCm39)	start codon destroyed	probably null	0.98
R5323:Or5k8	UTSW	16	58,645,066 (GRCm39)	missense	probably benign
R5447:Or5k8	UTSW	16	58,644,846 (GRCm39)	nonsense	probably null
R5457:Or5k8	UTSW	16	58,644,796 (GRCm39)	missense	probably damaging	0.97
R5546:Or5k8	UTSW	16	58,644,516 (GRCm39)	nonsense	probably null
R5623:Or5k8	UTSW	16	58,644,706 (GRCm39)	missense	probably benign	0.02
R5767:Or5k8	UTSW	16	58,644,316 (GRCm39)	missense	probably benign	0.42
R6270:Or5k8	UTSW	16	58,644,782 (GRCm39)	missense	probably damaging	1.00
R6449:Or5k8	UTSW	16	58,644,889 (GRCm39)	missense	probably damaging	1.00
R7356:Or5k8	UTSW	16	58,644,718 (GRCm39)	missense	probably damaging	0.99
R7521:Or5k8	UTSW	16	58,644,257 (GRCm39)	missense	probably benign	0.00
R7638:Or5k8	UTSW	16	58,644,958 (GRCm39)	missense	probably damaging	1.00
R7814:Or5k8	UTSW	16	58,644,365 (GRCm39)	missense	probably damaging	0.98
R9109:Or5k8	UTSW	16	58,644,677 (GRCm39)	missense	probably damaging	1.00
R9276:Or5k8	UTSW	16	58,644,734 (GRCm39)	missense	probably benign	0.09
R9681:Or5k8	UTSW	16	58,644,176 (GRCm39)	missense	possibly damaging	0.90
X0011:Or5k8	UTSW	16	58,645,026 (GRCm39)	missense	probably benign
Z1176:Or5k8	UTSW	16	58,644,670 (GRCm39)	frame shift	probably null
Z1177:Or5k8	UTSW	16	58,645,061 (GRCm39)	missense	possibly damaging	0.47

Posted On

2015-04-16