Mutagenetix > Incidental Mutation

Incidental Mutation 'R9345:Or5ak22'

707716

Institutional Source

Beutler Lab

Gene Symbol

Or5ak22

Ensembl Gene

ENSMUSG00000075221

Gene Name

olfactory receptor family 5 subfamily AK member 22

Synonyms

MOR203-1, Olfr992, GA_x6K02T2Q125-46877170-46876241

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R9345 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85229946-85230875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85230097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 260 (V260A)

Ref Sequence

ENSEMBL: ENSMUSP00000149333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099927] [ENSMUST00000213749] [ENSMUST00000214895] [ENSMUST00000215617]

AlphaFold

Q8VGC6

Predicted Effect

probably benign
Transcript: ENSMUST00000099927
AA Change: V260A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097511
Gene: ENSMUSG00000075221
AA Change: V260A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.3e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	285	3.3e-6	PFAM
Pfam:7tm_1	41	290	7.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213749
AA Change: V260A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000214895
AA Change: V260A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215617

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,807,869 (GRCm39)	I837F	probably damaging	Het
Acot3	A	G	12: 84,103,866 (GRCm39)	Y225C	probably benign	Het
Adam17	A	G	12: 21,378,056 (GRCm39)	V710A	probably damaging	Het
Ank3	A	G	10: 69,761,899 (GRCm39)		probably benign	Het
Ankrd60	T	A	2: 173,410,610 (GRCm39)	K303N	possibly damaging	Het
Atp10b	T	A	11: 43,094,024 (GRCm39)	S523T	probably damaging	Het
Bptf	A	G	11: 106,971,588 (GRCm39)	V973A	possibly damaging	Het
Ccdc24	C	T	4: 117,729,691 (GRCm39)	W9*	probably null	Het
Ccdc82	A	G	9: 13,281,891 (GRCm39)	T439A	probably benign	Het
Ccne2	C	A	4: 11,199,420 (GRCm39)	Q274K	probably benign	Het
Clec11a	T	C	7: 43,956,189 (GRCm39)	M1V	probably null	Het
Col12a1	T	A	9: 79,541,017 (GRCm39)	Y2370F	probably benign	Het
Cyp4a32	C	T	4: 115,467,699 (GRCm39)	H228Y	probably benign	Het
Dchs2	G	A	3: 83,036,101 (GRCm39)	G283S	probably benign	Het
Dis3	T	C	14: 99,318,814 (GRCm39)	T659A	probably damaging	Het
Dock5	T	C	14: 68,060,071 (GRCm39)	D456G	possibly damaging	Het
Efr3b	T	A	12: 4,033,409 (GRCm39)	K249*	probably null	Het
Emilin2	C	T	17: 71,581,539 (GRCm39)	V396I	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fasn	A	T	11: 120,706,735 (GRCm39)	S947T	probably benign	Het
Fryl	C	T	5: 73,207,754 (GRCm39)	C2472Y	probably benign	Het
Gm3159	A	T	14: 4,398,488 (GRCm38)	I60L	probably benign	Het
Gm3402	A	T	5: 146,451,330 (GRCm39)	N63Y	probably damaging	Het
Gm49355	C	T	14: 12,296,641 (GRCm38)		probably benign	Het
Grm2	A	G	9: 106,528,287 (GRCm39)	L199P	probably damaging	Het
Hck	T	A	2: 152,992,904 (GRCm39)	H470Q	probably benign	Het
Hsd17b4	T	C	18: 50,299,981 (GRCm39)	Y413H	probably benign	Het
Ice1	A	G	13: 70,740,758 (GRCm39)	F80L		Het
Ifrd1	G	A	12: 40,267,458 (GRCm39)	P38S	possibly damaging	Het
Itgad	A	G	7: 127,788,479 (GRCm39)	T431A	probably benign	Het
Kcnd3	A	T	3: 105,566,003 (GRCm39)	I395F	probably damaging	Het
Kif20a	A	G	18: 34,759,779 (GRCm39)	E58G	probably benign	Het
Kras	A	T	6: 145,192,442 (GRCm39)	D30E	probably benign	Het
Lmbrd1	C	T	1: 24,724,593 (GRCm39)	A59V	probably damaging	Het
Lrrc20	T	C	10: 61,383,890 (GRCm39)	L99P	probably damaging	Het
Mfn2	T	C	4: 147,966,649 (GRCm39)	D514G	probably benign	Het
Myl2	A	G	5: 122,242,902 (GRCm39)	E96G	probably damaging	Het
Nppb	T	G	4: 148,070,518 (GRCm39)	L29R	probably damaging	Het
Or51f1e	C	T	7: 102,747,713 (GRCm39)	A255V	possibly damaging	Het
Pcdhb14	A	G	18: 37,581,281 (GRCm39)	H129R	probably damaging	Het
Pex11g	T	C	8: 3,509,363 (GRCm39)	N188S	possibly damaging	Het
Pla2g3	A	G	11: 3,442,170 (GRCm39)	D410G	probably benign	Het
Pnma1	C	A	12: 84,194,232 (GRCm39)	W157L	probably benign	Het
Pofut2	A	G	10: 77,103,090 (GRCm39)	Y362C	probably damaging	Het
Ppp1r14c	C	A	10: 3,373,567 (GRCm39)	S126*	probably null	Het
Psg27	T	C	7: 18,299,081 (GRCm39)	H80R	probably benign	Het
Rere	T	A	4: 150,554,770 (GRCm39)	V156D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Samd8	G	A	14: 21,830,227 (GRCm39)	V281I	probably benign	Het
Scarf1	A	G	11: 75,404,401 (GRCm39)		probably benign	Het
Scgb2b27	A	G	7: 33,712,722 (GRCm39)	L40P	probably benign	Het
Sdk1	A	T	5: 142,147,708 (GRCm39)	H1780L	probably benign	Het
Slc10a6	T	C	5: 103,754,521 (GRCm39)	T337A	probably benign	Het
Slc44a4	A	T	17: 35,140,219 (GRCm39)	D208V	probably benign	Het
Slco1c1	G	T	6: 141,493,553 (GRCm39)	C363F	probably benign	Het
Smg5	T	A	3: 88,261,848 (GRCm39)	L707Q	probably damaging	Het
Supt5	A	T	7: 28,016,412 (GRCm39)	D789E	probably benign	Het
Tbcd	A	G	11: 121,464,648 (GRCm39)	Y561C	probably damaging	Het
Tectb	T	C	19: 55,183,097 (GRCm39)	L316P	probably benign	Het
Thrsp	T	C	7: 97,066,326 (GRCm39)	T129A	possibly damaging	Het
Tnpo3	T	C	6: 29,558,851 (GRCm39)	H693R	probably benign	Het
Trim54	T	G	5: 31,294,478 (GRCm39)	D335E	probably benign	Het
Tsr1	A	G	11: 74,790,126 (GRCm39)	D107G	probably benign	Het
Ttc41	A	T	10: 86,595,089 (GRCm39)	E954D	probably damaging	Het
Ttn	A	G	2: 76,538,595 (GRCm39)	L34701P	possibly damaging	Het
Vmn1r119	A	C	7: 20,746,034 (GRCm39)	V116G	probably damaging	Het
Vmn1r219	G	A	13: 23,346,769 (GRCm39)		probably benign	Het
Zc3h12c	T	A	9: 52,028,010 (GRCm39)	M470L	probably benign	Het
Zmynd8	T	C	2: 165,654,668 (GRCm39)	K615E	possibly damaging	Het

Other mutations in Or5ak22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Or5ak22	APN	2	85,230,515 (GRCm39)	missense	probably damaging	1.00
IGL02538:Or5ak22	APN	2	85,230,647 (GRCm39)	missense	probably damaging	1.00
IGL02550:Or5ak22	APN	2	85,230,166 (GRCm39)	missense	probably damaging	0.99
R0128:Or5ak22	UTSW	2	85,230,305 (GRCm39)	missense	probably damaging	0.99
R0130:Or5ak22	UTSW	2	85,230,305 (GRCm39)	missense	probably damaging	0.99
R0345:Or5ak22	UTSW	2	85,230,685 (GRCm39)	missense	possibly damaging	0.60
R0413:Or5ak22	UTSW	2	85,230,019 (GRCm39)	missense	probably damaging	1.00
R0535:Or5ak22	UTSW	2	85,230,439 (GRCm39)	missense	possibly damaging	0.71
R1243:Or5ak22	UTSW	2	85,230,617 (GRCm39)	missense	probably benign
R1255:Or5ak22	UTSW	2	85,230,647 (GRCm39)	missense	probably damaging	1.00
R1293:Or5ak22	UTSW	2	85,230,697 (GRCm39)	splice site	probably null
R1840:Or5ak22	UTSW	2	85,230,512 (GRCm39)	missense	probably benign	0.42
R1847:Or5ak22	UTSW	2	85,230,785 (GRCm39)	missense	probably damaging	0.99
R2300:Or5ak22	UTSW	2	85,230,476 (GRCm39)	missense	probably benign
R4574:Or5ak22	UTSW	2	85,230,370 (GRCm39)	missense	probably damaging	1.00
R4872:Or5ak22	UTSW	2	85,230,772 (GRCm39)	missense	probably damaging	1.00
R5435:Or5ak22	UTSW	2	85,230,814 (GRCm39)	missense	probably benign	0.05
R6846:Or5ak22	UTSW	2	85,230,861 (GRCm39)	missense	probably damaging	1.00
R7075:Or5ak22	UTSW	2	85,230,544 (GRCm39)	missense	probably damaging	1.00
R7253:Or5ak22	UTSW	2	85,229,983 (GRCm39)	missense	probably benign	0.00
R7454:Or5ak22	UTSW	2	85,229,955 (GRCm39)	missense	probably damaging	0.99
R7880:Or5ak22	UTSW	2	85,230,379 (GRCm39)	missense	possibly damaging	0.71
R9098:Or5ak22	UTSW	2	85,229,995 (GRCm39)	missense	probably damaging	1.00
R9756:Or5ak22	UTSW	2	85,230,682 (GRCm39)	missense	probably damaging	1.00
RF007:Or5ak22	UTSW	2	85,230,137 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACCTTGTTGCCTTGCCTG -3'
(R):5'- TGACCTCAATATCATGGTACTGAC -3'

Sequencing Primer
(F):5'- GCCTTGCCTGTTGAGTAATG -3'
(R):5'- ATCATGGTACTGACAATTTTTGTTGG -3'

Posted On

2022-04-18