Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Or5ak22'

50098

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

038415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0130 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

85229946-85230875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85230305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 191 (S191C)

Ref Sequence

ENSEMBL: ENSMUSP00000149333 (fasta)

Gene Model

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

AlphaFold

Q8VGC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000099927
AA Change: S191C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097511
Gene: ENSMUSG00000075221
AA Change: S191C

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 damaging
Transcript: ENSMUST00000213749
AA Change: S191C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214895
AA Change: S191C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000215617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215967

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,994,094 (GRCm39)	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Apol7c	A	G	15: 77,410,562 (GRCm39)	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Arfip2	A	G	7: 105,288,205 (GRCm39)		probably benign	Het
Atp5mf	A	T	5: 145,124,992 (GRCm39)		probably benign	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,569,389 (GRCm39)	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,119,990 (GRCm39)	T613A	probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Cenpc1	A	T	5: 86,194,405 (GRCm39)	D120E	probably benign	Het
Chd3	T	A	11: 69,250,656 (GRCm39)	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,922,059 (GRCm39)	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,585,108 (GRCm39)	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,858,716 (GRCm39)		probably benign	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Fat2	T	A	11: 55,142,944 (GRCm39)	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Gde1	A	T	7: 118,294,283 (GRCm39)	F63L	probably benign	Het
Gjc3	A	G	5: 137,956,202 (GRCm39)	S28P	probably benign	Het
Gm10250	G	A	15: 5,150,473 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k11	T	C	19: 5,740,843 (GRCm39)	L190P	probably damaging	Het
Mki67	T	A	7: 135,298,188 (GRCm39)	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,285,990 (GRCm39)	I272F	probably damaging	Het
Myom1	A	T	17: 71,352,750 (GRCm39)	D358V	probably damaging	Het
Nebl	T	C	2: 17,395,737 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Nlrp2	T	A	7: 5,325,417 (GRCm39)	N14Y	possibly damaging	Het
Or14a258	T	C	7: 86,035,514 (GRCm39)	Y118C	probably damaging	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pld2	T	G	11: 70,445,174 (GRCm39)	N591K	probably benign	Het
Plekha7	A	G	7: 115,769,939 (GRCm39)	M276T	probably damaging	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Prtg	A	G	9: 72,716,998 (GRCm39)	Y113C	probably damaging	Het
Rab38	T	A	7: 88,099,749 (GRCm39)	I88N	probably damaging	Het
Rbfox2	A	G	15: 76,976,057 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,047,233 (GRCm39)	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,070,620 (GRCm39)	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Tectb	G	T	19: 55,170,393 (GRCm39)	K81N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Tiam1	T	C	16: 89,694,642 (GRCm39)	M272V	probably benign	Het
Trav13-3	T	A	14: 53,967,233 (GRCm39)		noncoding transcript	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	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
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
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'- GTGCCTCAGGGCTTCTATCACATC -3'
(R):5'- GAGACTCTGCATTTTGCTGCTGC -3'

Sequencing Primer
(F):5'- GTGTTCCATAGAATATGGTGACAGC -3'
(R):5'- GCTGCTGCTTGGTTCATACAC -3'

Posted On

2013-06-12