Mutagenetix > Incidental Mutation

Incidental Mutation 'R5435:Or5ak22'

428245

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

043000-MU

Accession Numbers

Essential gene?

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

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85229946-85230875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85230814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 21 (N21I)

Ref Sequence

ENSEMBL: ENSMUSP00000149132 (fasta)

Gene Model

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

AlphaFold

Q8VGC6

Predicted Effect

probably benign
Transcript: ENSMUST00000099927
AA Change: N21I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097511
Gene: ENSMUSG00000075221
AA Change: N21I

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: N21I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000214895
AA Change: N21I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000215617
AA Change: N21I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215967

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,413 (GRCm39)	F851L	probably benign	Het
Abca17	C	T	17: 24,486,588 (GRCm39)	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,523,153 (GRCm39)	Y491*	probably null	Het
Acsf3	T	A	8: 123,507,020 (GRCm39)	N104K	probably damaging	Het
Adam23	T	C	1: 63,585,612 (GRCm39)	Y400H	possibly damaging	Het
Adgra3	G	A	5: 50,147,468 (GRCm39)	T524M	probably damaging	Het
Aff1	G	A	5: 103,902,198 (GRCm39)		probably benign	Het
Anxa9	T	C	3: 95,204,561 (GRCm39)	Y321C	probably damaging	Het
Ap1g1	T	A	8: 110,565,552 (GRCm39)	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,741,783 (GRCm39)	I33N	possibly damaging	Het
B3galnt2	A	G	13: 14,171,575 (GRCm39)	E491G	probably benign	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
Ccar2	A	G	14: 70,376,776 (GRCm39)	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519 (GRCm39)	D30V	probably damaging	Het
Ccdc116	G	T	16: 16,960,626 (GRCm39)	H64N	probably benign	Het
Ccl12	T	C	11: 81,994,001 (GRCm39)	I86T	possibly damaging	Het
Col2a1	T	C	15: 97,898,391 (GRCm39)		probably benign	Het
Col4a4	T	A	1: 82,431,728 (GRCm39)	I1519F	unknown	Het
Ddx19b	T	C	8: 111,735,458 (GRCm39)	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,037,121 (GRCm39)	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,463,807 (GRCm39)	I119F	probably damaging	Het
Ensa	C	A	3: 95,529,769 (GRCm39)		probably benign	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxf1	G	A	8: 121,811,231 (GRCm39)	G32S	probably damaging	Het
Gls2	G	A	10: 128,030,995 (GRCm39)		probably benign	Het
Gm13599	T	A	2: 67,226,496 (GRCm39)		noncoding transcript	Het
Gmnn	A	G	13: 24,936,084 (GRCm39)	S197P	probably benign	Het
Guf1	A	T	5: 69,720,512 (GRCm39)	H324L	probably benign	Het
H2-Q6	A	G	17: 35,644,661 (GRCm39)	D150G	probably damaging	Het
Herc3	T	A	6: 58,832,791 (GRCm39)	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,797,682 (GRCm39)	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,561,283 (GRCm39)	F46L	probably benign	Het
Kank1	T	G	19: 25,388,507 (GRCm39)	S727A	probably benign	Het
Kcnma1	A	T	14: 23,578,472 (GRCm39)	Y201*	probably null	Het
Lyst	A	T	13: 13,951,649 (GRCm39)	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,615,447 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,201,724 (GRCm39)		probably benign	Het
Myh9	C	T	15: 77,653,809 (GRCm39)	V1280I	probably benign	Het
Neto1	A	T	18: 86,416,388 (GRCm39)	T32S	probably benign	Het
Nol7	C	A	13: 43,554,848 (GRCm39)	H187Q	possibly damaging	Het
Pcdha8	A	G	18: 37,126,652 (GRCm39)	D378G	probably damaging	Het
Peak1	A	G	9: 56,113,770 (GRCm39)	S694P	probably damaging	Het
Pih1d1	T	A	7: 44,805,696 (GRCm39)		probably null	Het
Pik3c2g	T	G	6: 139,661,581 (GRCm39)		probably null	Het
Prkar2a	A	G	9: 108,617,682 (GRCm39)	R247G	probably damaging	Het
Psg26	A	G	7: 18,212,398 (GRCm39)	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,681,811 (GRCm39)	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,422,013 (GRCm39)	H304Q	probably damaging	Het
Relch	T	A	1: 105,668,975 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,103,878 (GRCm39)	E1783V	probably damaging	Het
Stag1	A	G	9: 100,835,603 (GRCm39)	N151S	probably benign	Het
Tbc1d32	C	A	10: 55,916,246 (GRCm39)	A1191S	probably damaging	Het
Tchh	C	A	3: 93,350,979 (GRCm39)	R140S	possibly damaging	Het
Trank1	A	G	9: 111,220,958 (GRCm39)	Y2565C	probably benign	Het
Ttn	A	T	2: 76,744,702 (GRCm39)	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,575,985 (GRCm39)	P893S	possibly damaging	Het
Wdfy4	A	G	14: 32,742,268 (GRCm39)	F2325S	probably damaging	Het
Wdr35	A	G	12: 9,039,951 (GRCm39)	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Ypel3	A	G	7: 126,374,960 (GRCm39)		probably benign	Het
Zan	T	A	5: 137,402,024 (GRCm39)	T4023S	unknown	Het
Zfp735	T	A	11: 73,602,939 (GRCm39)	C628S	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
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
R9345:Or5ak22	UTSW	2	85,230,097 (GRCm39)	missense	probably benign	0.27
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'- AAAATTTTGCAGTGTCCTGGG -3'
(R):5'- CATCTGTACACATATGCCCAATTTCAC -3'

Sequencing Primer
(F):5'- TCCTGGGAGTGATGGCAGAG -3'
(R):5'- TGCCCAATTTCACATAAATGTACAC -3'

Posted On

2016-09-01