Mutagenetix > Incidental Mutation

Incidental Mutation 'R8421:Or8k22'

653177

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

067898-MU

Accession Numbers

Essential gene?

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

Stock #

R8421 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86162760-86163698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86163247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 151 (Y151F)

Ref Sequence

ENSEMBL: ENSMUSP00000150810 (fasta)

Gene Model

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

AlphaFold

Q8VGS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099895
AA Change: Y151F

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097480
Gene: ENSMUSG00000075190
AA Change: Y151F

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

possibly damaging
Transcript: ENSMUST00000213205
AA Change: Y151F

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	T	C	14: 54,880,486 (GRCm39)	E1239G	unknown	Het
Actn3	T	C	19: 4,911,741 (GRCm39)	M806V	probably benign	Het
Adcy7	A	G	8: 89,048,812 (GRCm39)	T676A	probably benign	Het
Ankef1	C	A	2: 136,379,085 (GRCm39)	Q12K	probably damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Atad5	T	A	11: 79,985,384 (GRCm39)	V157D	probably damaging	Het
Atp6v1b1	T	A	6: 83,730,791 (GRCm39)	M163K	probably damaging	Het
Atp7b	A	T	8: 22,518,487 (GRCm39)	M117K	probably benign	Het
Ccdc87	T	C	19: 4,891,313 (GRCm39)	Y602H	possibly damaging	Het
Cdh16	C	T	8: 105,348,602 (GRCm39)	R142K	probably benign	Het
Chrnb3	G	A	8: 27,886,718 (GRCm39)	V431I	probably damaging	Het
Csf1r	A	G	18: 61,260,966 (GRCm39)	D719G	probably damaging	Het
Ctsll3	A	G	13: 60,948,595 (GRCm39)	F88S	probably damaging	Het
Dglucy	A	G	12: 100,808,938 (GRCm39)	Y212C	probably damaging	Het
Dnase1l3	T	C	14: 7,968,122 (GRCm38)	D261G	possibly damaging	Het
Dync2h1	T	C	9: 7,102,477 (GRCm39)	D2641G	probably damaging	Het
Fat3	A	T	9: 15,909,480 (GRCm39)	V2174D	probably damaging	Het
Gtf3c1	A	G	7: 125,298,142 (GRCm39)	L244P	probably damaging	Het
Hcn4	T	A	9: 58,765,379 (GRCm39)	D620E	unknown	Het
Ide	A	G	19: 37,255,403 (GRCm39)	V800A		Het
Ikbkb	A	T	8: 23,168,804 (GRCm39)		probably null	Het
Lin9	T	A	1: 180,493,365 (GRCm39)	F197Y	probably damaging	Het
Lrp1b	T	A	2: 40,615,435 (GRCm39)	Y3656F		Het
Mapkbp1	C	A	2: 119,849,431 (GRCm39)	N708K	probably damaging	Het
Marveld3	A	G	8: 110,675,279 (GRCm39)	M179T	probably benign	Het
Mrpl1	C	G	5: 96,374,226 (GRCm39)	A167G	probably benign	Het
Mrpl35	T	C	6: 71,793,151 (GRCm39)	K167E	probably damaging	Het
Myo3a	T	C	2: 22,366,935 (GRCm39)	V594A	probably benign	Het
Nav2	A	G	7: 49,102,269 (GRCm39)	T356A	probably benign	Het
Nup210l	A	G	3: 90,111,174 (GRCm39)	Y1692C	probably damaging	Het
Otoa	G	A	7: 120,698,491 (GRCm39)		probably null	Het
Oxnad1	T	G	14: 31,821,431 (GRCm39)	I172S	probably benign	Het
Padi4	C	A	4: 140,475,533 (GRCm39)	C544F	probably damaging	Het
Pard3	A	C	8: 127,867,158 (GRCm39)		probably benign	Het
Plvap	G	A	8: 71,964,176 (GRCm39)	T62M	probably damaging	Het
Potefam1	T	A	2: 111,048,955 (GRCm39)	K275*	probably null	Het
Prdm8	C	T	5: 98,333,822 (GRCm39)	A463V	probably damaging	Het
Prss21	T	A	17: 24,088,342 (GRCm39)	D102E	possibly damaging	Het
Psmb10	G	T	8: 106,663,342 (GRCm39)	Q182K	probably benign	Het
Rasgrf1	C	T	9: 89,849,968 (GRCm39)	P319S	probably damaging	Het
Rock1	G	A	18: 10,072,863 (GRCm39)	Q1161*	probably null	Het
Ryr3	T	C	2: 112,826,929 (GRCm39)	E112G	probably benign	Het
Samm50	A	G	15: 84,094,786 (GRCm39)	T393A	probably benign	Het
Slc9c1	A	G	16: 45,413,734 (GRCm39)	E954G	probably damaging	Het
Sulf2	T	A	2: 165,958,972 (GRCm39)	I79F	probably benign	Het
Tbx21	T	C	11: 97,005,561 (GRCm39)	K135E	probably benign	Het
Ube2q2l	T	C	6: 136,378,350 (GRCm39)	E160G	probably damaging	Het
Unc13b	A	G	4: 43,178,304 (GRCm39)	E3044G	unknown	Het
Usf3	A	T	16: 44,037,572 (GRCm39)	Q684L	possibly damaging	Het
Vmn1r114	A	T	7: 20,545,459 (GRCm39)	M218K	possibly damaging	Het
Vmn1r203	T	G	13: 22,709,154 (GRCm39)	*312G	probably null	Het
Vmn2r67	A	C	7: 84,785,893 (GRCm39)	L704R	probably damaging	Het
Zfp618	A	G	4: 63,051,483 (GRCm39)	T755A	probably damaging	Het
Zp3	A	G	5: 136,017,331 (GRCm39)	T381A	probably benign	Het
Zscan20	T	C	4: 128,479,620 (GRCm39)	D957G	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
R4523:Or8k22	UTSW	2	86,163,644 (GRCm39)	missense	probably benign	0.12
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
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'- GCCTGCCTTCAGCTGAATTC -3'
(R):5'- TGTGGGACCCAAAATGCTGG -3'

Sequencing Primer
(F):5'- CAGCTGAATTCATTCTAAAAATGGC -3'
(R):5'- GGACCCAAAATGCTGGAAAATTTTG -3'

Posted On

2020-10-20