Mutagenetix > Incidental Mutation

Incidental Mutation 'R4523:Or8k22'

334291

Institutional Source

Beutler Lab

Gene Symbol

Or8k22

Ensembl Gene

ENSMUSG00000075190

Gene Name

olfactory receptor family 8 subfamily K member 22

Synonyms

Olfr1054, GA_x6K02T2Q125-47811880-47810942, MOR188-2

MMRRC Submission

042004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86162760-86163698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 86163644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 19 (D19H)

Ref Sequence

ENSEMBL: ENSMUSP00000150810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099895] [ENSMUST00000213205]

AlphaFold

Q8VGS7

Predicted Effect

probably benign
Transcript: ENSMUST00000099895
AA Change: D19H

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097480
Gene: ENSMUSG00000075190
AA Change: D19H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.8e-49	PFAM
Pfam:7tm_1	41	289	5.5e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122018

Predicted Effect

probably benign
Transcript: ENSMUST00000213205
AA Change: D19H

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.2441

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

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
Atp8a1	G	T	5: 67,824,943 (GRCm39)	T796K	probably benign	Het
Atr	T	C	9: 95,744,916 (GRCm39)	S78P	probably damaging	Het
Calb2	C	T	8: 110,875,141 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,310,042 (GRCm39)	S77G	probably damaging	Het
Cfap47	A	T	X: 78,553,601 (GRCm39)	N291K	possibly damaging	Het
Cnot2	C	T	10: 116,417,379 (GRCm39)		probably benign	Het
Cstf2t	T	A	19: 31,060,482 (GRCm39)	V6D	possibly damaging	Het
Cybc1	A	G	11: 121,114,934 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,314,085 (GRCm39)	I852V	probably damaging	Het
Dmgdh	C	T	13: 93,825,138 (GRCm39)	Q154*	probably null	Het
Dnah12	T	C	14: 26,491,979 (GRCm39)	F1138S	probably damaging	Het
Dnah12	G	A	14: 26,598,915 (GRCm39)	A998T	possibly damaging	Het
Dusp5	T	G	19: 53,526,032 (GRCm39)	Y225D	probably damaging	Het
Fam193a	G	A	5: 34,600,715 (GRCm39)	D601N	probably benign	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Fmo2	T	C	1: 162,715,277 (GRCm39)	K115R	probably benign	Het
Gak	G	T	5: 108,724,432 (GRCm39)	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,799,493 (GRCm39)		noncoding transcript	Het
Hgsnat	A	G	8: 26,458,389 (GRCm39)		probably null	Het
Hycc1	T	C	5: 24,170,120 (GRCm39)	T410A	probably benign	Het
Irag1	T	C	7: 110,523,048 (GRCm39)	M338V	probably benign	Het
Map3k3	G	A	11: 106,039,694 (GRCm39)	R278H	probably damaging	Het
Muc4	T	C	16: 32,555,154 (GRCm39)		probably benign	Het
Nectin3	C	A	16: 46,268,953 (GRCm39)	R483L	probably benign	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Ntng1	A	G	3: 109,842,312 (GRCm39)	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,496,791 (GRCm39)	I474T	probably benign	Het
Optc	G	T	1: 133,831,492 (GRCm39)	T138K	possibly damaging	Het
Or7g25	T	C	9: 19,160,525 (GRCm39)	T57A	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pard3	C	T	8: 128,125,108 (GRCm39)	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,653,474 (GRCm39)	E647D	probably benign	Het
Pclo	A	G	5: 14,730,006 (GRCm39)		probably benign	Het
Prkce	G	T	17: 86,798,178 (GRCm39)		probably null	Het
Prr12	T	C	7: 44,697,947 (GRCm39)	D656G	unknown	Het
Ptprk	A	T	10: 28,342,048 (GRCm39)	D485V	probably damaging	Het
Ptprn2	T	C	12: 116,839,620 (GRCm39)	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,361,013 (GRCm39)	I51T	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Sh3glb2	A	T	2: 30,240,711 (GRCm39)	V118E	probably damaging	Het
Sipa1l2	C	T	8: 126,219,163 (GRCm39)	G58D	probably damaging	Het
Slc5a4a	C	T	10: 75,984,196 (GRCm39)	A46V	probably damaging	Het
Spmip8	T	A	8: 96,039,638 (GRCm39)	Y18*	probably null	Het
Tgm7	C	A	2: 120,929,069 (GRCm39)		probably null	Het
Tjap1	A	G	17: 46,569,718 (GRCm39)	V424A	probably benign	Het
Trpm6	A	T	19: 18,773,864 (GRCm39)	I414F	probably damaging	Het
Tsr3	C	G	17: 25,460,723 (GRCm39)	D196E	probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Vmn2r97	T	A	17: 19,149,333 (GRCm39)	N240K	probably benign	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,941,409 (GRCm39)	D68G	probably damaging	Het

Other mutations in Or8k22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Or8k22	APN	2	86,163,048 (GRCm39)	nonsense	probably null
IGL02266:Or8k22	APN	2	86,163,323 (GRCm39)	missense	probably damaging	0.98
IGL02398:Or8k22	APN	2	86,162,868 (GRCm39)	nonsense	probably null
IGL02535:Or8k22	APN	2	86,163,019 (GRCm39)	missense	probably damaging	1.00
IGL02590:Or8k22	APN	2	86,163,344 (GRCm39)	missense	possibly damaging	0.52
IGL02630:Or8k22	APN	2	86,163,212 (GRCm39)	missense	probably benign	0.39
PIT4151001:Or8k22	UTSW	2	86,163,173 (GRCm39)	missense	possibly damaging	0.60
R0520:Or8k22	UTSW	2	86,163,475 (GRCm39)	missense	probably damaging	1.00
R1079:Or8k22	UTSW	2	86,163,185 (GRCm39)	missense	probably damaging	0.96
R1887:Or8k22	UTSW	2	86,163,617 (GRCm39)	missense	possibly damaging	0.90
R2037:Or8k22	UTSW	2	86,162,774 (GRCm39)	missense	probably benign	0.03
R2120:Or8k22	UTSW	2	86,163,689 (GRCm39)	missense	probably benign	0.00
R2153:Or8k22	UTSW	2	86,162,872 (GRCm39)	missense	probably damaging	1.00
R4836:Or8k22	UTSW	2	86,163,571 (GRCm39)	missense	probably benign	0.12
R6147:Or8k22	UTSW	2	86,162,844 (GRCm39)	missense	probably damaging	1.00
R6802:Or8k22	UTSW	2	86,163,529 (GRCm39)	missense	possibly damaging	0.91
R6886:Or8k22	UTSW	2	86,163,408 (GRCm39)	nonsense	probably null
R6894:Or8k22	UTSW	2	86,163,295 (GRCm39)	missense	probably damaging	1.00
R7275:Or8k22	UTSW	2	86,163,136 (GRCm39)	missense	possibly damaging	0.91
R7322:Or8k22	UTSW	2	86,162,908 (GRCm39)	missense	probably benign	0.14
R7325:Or8k22	UTSW	2	86,163,344 (GRCm39)	missense	possibly damaging	0.52
R7526:Or8k22	UTSW	2	86,163,697 (GRCm39)	start codon destroyed	probably null	1.00
R7976:Or8k22	UTSW	2	86,163,064 (GRCm39)	missense	probably benign	0.05
R8421:Or8k22	UTSW	2	86,163,247 (GRCm39)	missense	possibly damaging	0.80
R8838:Or8k22	UTSW	2	86,163,317 (GRCm39)	missense	possibly damaging	0.61
R9297:Or8k22	UTSW	2	86,163,188 (GRCm39)	missense	probably benign	0.01
Z1176:Or8k22	UTSW	2	86,163,050 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTAGAATAACCAAGATCAGTG -3'
(R):5'- CTGGAATAAAGTCTTCATGGTGTTC -3'

Sequencing Primer
(F):5'- ATCAGTGATAGCCAGATGTCTG -3'
(R):5'- AAATGGCCTCATAGAAATAACTCAG -3'

Posted On

2015-08-18