Mutagenetix > Incidental Mutation

Incidental Mutation 'R0220:Or5h22'

33814

Institutional Source

Beutler Lab

Gene Symbol

Or5h22

Ensembl Gene

ENSMUSG00000064006

Gene Name

olfactory receptor family 5 subfamily H member 22

Synonyms

GA_x54KRFPKG5P-55303207-55302284, Olfr190, MOR183-4

MMRRC Submission

038469-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58894518-58895441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58895095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 116 (M116K)

Ref Sequence

ENSEMBL: ENSMUSP00000148991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071243] [ENSMUST00000206214] [ENSMUST00000215687] [ENSMUST00000216495]

AlphaFold

K7N5T5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071243
AA Change: M116K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071224
Gene: ENSMUSG00000064006
AA Change: M116K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.1e-46	PFAM
Pfam:7tm_1	39	288	2.8e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206214
AA Change: M116K

Predicted Effect

probably damaging
Transcript: ENSMUST00000215687
AA Change: M116K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216495
AA Change: M116K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,195,194 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,187,852 (GRCm39)	V863A	probably benign	Het
Anxa6	A	C	11: 54,872,588 (GRCm39)		probably null	Het
Armc10	A	G	5: 21,866,582 (GRCm39)	K296R	probably benign	Het
Arpc2	T	A	1: 74,287,293 (GRCm39)	F38I	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Bcl6	T	A	16: 23,784,969 (GRCm39)	H677L	possibly damaging	Het
Bcl7a	G	A	5: 123,489,982 (GRCm39)	V49I	probably damaging	Het
Ccnj	T	C	19: 40,833,254 (GRCm39)	L144P	probably damaging	Het
Cdh8	G	T	8: 99,838,311 (GRCm39)	P510T	probably benign	Het
Cgnl1	C	A	9: 71,632,225 (GRCm39)	K375N	possibly damaging	Het
Cubn	C	A	2: 13,361,520 (GRCm39)	R1695L	probably damaging	Het
Cyp3a59	G	A	5: 146,035,080 (GRCm39)	V253I	probably benign	Het
Cyp4f13	A	G	17: 33,148,476 (GRCm39)	I208T	probably damaging	Het
Dennd4a	A	C	9: 64,759,727 (GRCm39)	E277D	probably damaging	Het
Depdc1a	G	A	3: 159,229,542 (GRCm39)	V625I	probably benign	Het
Dot1l	A	T	10: 80,621,692 (GRCm39)	D448V	probably damaging	Het
Efhc1	A	G	1: 21,037,582 (GRCm39)	D253G	probably damaging	Het
Eme1	T	A	11: 94,541,084 (GRCm39)	E246V	probably null	Het
Foxred1	A	G	9: 35,120,749 (GRCm39)	L128P	probably damaging	Het
Gm4787	G	T	12: 81,425,422 (GRCm39)	S245R	probably damaging	Het
Gm5141	T	A	13: 62,922,271 (GRCm39)	K299N	probably damaging	Het
Greb1	C	A	12: 16,732,287 (GRCm39)	R1558L	probably damaging	Het
Ip6k3	A	T	17: 27,364,203 (GRCm39)	F282I	probably damaging	Het
Kdm2a	T	C	19: 4,374,947 (GRCm39)	D288G	possibly damaging	Het
Kdm4d	A	T	9: 14,374,418 (GRCm39)	V480E	probably benign	Het
Kif26a	A	T	12: 112,123,824 (GRCm39)	Q143L	probably damaging	Het
Klhl41	G	A	2: 69,500,829 (GRCm39)	D97N	probably benign	Het
Krt34	C	T	11: 99,929,519 (GRCm39)		probably benign	Het
Lcn11	A	T	2: 25,667,843 (GRCm39)	H77L	probably benign	Het
Megf6	G	A	4: 154,342,672 (GRCm39)	R529H	probably damaging	Het
Mipol1	A	G	12: 57,503,936 (GRCm39)	E368G	probably damaging	Het
Mtus1	A	T	8: 41,447,609 (GRCm39)	M442K	probably damaging	Het
Naca	T	C	10: 127,879,255 (GRCm39)		probably benign	Het
Nbea	G	A	3: 55,912,724 (GRCm39)	T1021I	probably benign	Het
Nfib	A	T	4: 82,215,013 (GRCm39)	V530E	probably damaging	Het
Nptx1	A	G	11: 119,435,467 (GRCm39)	V283A	probably damaging	Het
Opn5	A	G	17: 42,907,495 (GRCm39)	V127A	probably benign	Het
Or4c126	G	T	2: 89,824,206 (GRCm39)	L156F	probably benign	Het
Pcgf6	A	G	19: 47,028,529 (GRCm39)	V291A	probably benign	Het
Pilrb2	C	A	5: 137,869,459 (GRCm39)	R47L	probably benign	Het
Prom2	A	C	2: 127,383,027 (GRCm39)	S72A	probably benign	Het
Sema3e	T	C	5: 14,214,167 (GRCm39)	F144S	possibly damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Smarcc2	A	T	10: 128,319,505 (GRCm39)	D798V	probably benign	Het
Taf5	T	C	19: 47,068,999 (GRCm39)	S563P	probably damaging	Het
Topaz1	A	G	9: 122,578,368 (GRCm39)	H426R	possibly damaging	Het
Tpgs1	T	A	10: 79,511,271 (GRCm39)	C138S	possibly damaging	Het
Traf1	A	T	2: 34,839,115 (GRCm39)	V70D	probably benign	Het
Ttn	T	C	2: 76,641,737 (GRCm39)	Y13453C	probably damaging	Het
Ubxn4	T	A	1: 128,183,931 (GRCm39)	V97D	possibly damaging	Het
Ugt1a8	A	T	1: 88,016,057 (GRCm39)	I157L	probably benign	Het
Vmn2r13	A	T	5: 109,304,332 (GRCm39)	C700S	probably damaging	Het
Wee1	A	T	7: 109,723,733 (GRCm39)	D216V	probably benign	Het
Zc3h4	T	C	7: 16,163,198 (GRCm39)	Y533H	unknown	Het
Zfp1005	A	T	2: 150,110,595 (GRCm39)	Q428H	unknown	Het
Zfp81	A	G	17: 33,555,698 (GRCm39)	I43T	possibly damaging	Het
Zfp963	A	T	8: 70,196,145 (GRCm39)	Y103N	probably benign	Het
Zfp963	A	T	8: 70,196,143 (GRCm39)	Y103*	probably null	Het
Zzef1	G	T	11: 72,756,792 (GRCm39)	D1126Y	probably damaging	Het

Other mutations in Or5h22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Or5h22	APN	16	58,895,052 (GRCm39)	nonsense	probably null
IGL01011:Or5h22	APN	16	58,894,793 (GRCm39)	missense	probably benign	0.10
IGL01453:Or5h22	APN	16	58,895,132 (GRCm39)	missense	probably benign	0.00
IGL01978:Or5h22	APN	16	58,894,630 (GRCm39)	missense	probably benign	0.33
IGL02348:Or5h22	APN	16	58,895,312 (GRCm39)	missense	probably damaging	0.99
IGL02423:Or5h22	APN	16	58,894,630 (GRCm39)	missense	probably benign	0.33
IGL02628:Or5h22	APN	16	58,895,155 (GRCm39)	missense	probably benign	0.01
R0471:Or5h22	UTSW	16	58,894,633 (GRCm39)	missense	probably benign	0.01
R1697:Or5h22	UTSW	16	58,895,270 (GRCm39)	missense	probably damaging	1.00
R3009:Or5h22	UTSW	16	58,895,350 (GRCm39)	missense	probably benign	0.01
R3011:Or5h22	UTSW	16	58,895,350 (GRCm39)	missense	probably benign	0.01
R3027:Or5h22	UTSW	16	58,895,330 (GRCm39)	missense	probably benign	0.00
R4080:Or5h22	UTSW	16	58,894,619 (GRCm39)	missense	probably damaging	0.96
R4482:Or5h22	UTSW	16	58,895,286 (GRCm39)	missense	probably benign	0.02
R4895:Or5h22	UTSW	16	58,895,020 (GRCm39)	missense	probably benign	0.09
R5409:Or5h22	UTSW	16	58,894,559 (GRCm39)	missense	possibly damaging	0.94
R5825:Or5h22	UTSW	16	58,895,024 (GRCm39)	missense	probably benign	0.01
R6146:Or5h22	UTSW	16	58,895,077 (GRCm39)	missense	probably benign	0.05
R6249:Or5h22	UTSW	16	58,894,795 (GRCm39)	missense	probably damaging	1.00
R6996:Or5h22	UTSW	16	58,894,555 (GRCm39)	missense	probably benign	0.00
R7283:Or5h22	UTSW	16	58,894,555 (GRCm39)	missense	probably benign
R7707:Or5h22	UTSW	16	58,894,634 (GRCm39)	missense	possibly damaging	0.52
R8381:Or5h22	UTSW	16	58,895,225 (GRCm39)	missense	probably damaging	1.00
R8507:Or5h22	UTSW	16	58,895,243 (GRCm39)	missense	possibly damaging	0.81
R8887:Or5h22	UTSW	16	58,894,846 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCACCACAGGTAGAGAAAGCCTTC -3'
(R):5'- TTACAGGGCTCACAGAGTCTCCAG -3'

Sequencing Primer
(F):5'- GGTAGAGAAAGCCTTCTTCATGC -3'
(R):5'- AGTCTCCAGAGCTACAGGTG -3'

Posted On

2013-05-09