Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01011:Or5h22'

54016

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5h22

Ensembl Gene

ENSMUSG00000064006

Gene Name

olfactory receptor family 5 subfamily H member 22

Synonyms

GA_x54KRFPKG5P-55303207-55302284, Olfr190, MOR183-4

Accession Numbers

Essential gene?

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

Stock #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

58894518-58895441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58894793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 217 (T217S)

Ref Sequence

ENSEMBL: ENSMUSP00000148991 (fasta)

Gene Model

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

AlphaFold

K7N5T5

Predicted Effect

probably benign
Transcript: ENSMUST00000071243
AA Change: T217S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071224
Gene: ENSMUSG00000064006
AA Change: T217S

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: T217S

Predicted Effect

probably benign
Transcript: ENSMUST00000215687
AA Change: T217S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216495
AA Change: T217S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,529 (GRCm39)	C282S	probably damaging	Het
Abca12	T	C	1: 71,302,791 (GRCm39)	I2143V	probably benign	Het
Adgrg6	A	C	10: 14,285,542 (GRCm39)	I1148S	probably damaging	Het
Aox4	C	T	1: 58,279,934 (GRCm39)	R517*	probably null	Het
Arnt2	T	A	7: 83,935,037 (GRCm39)	D289V	probably benign	Het
Atad2b	A	G	12: 5,015,984 (GRCm39)	N570S	probably benign	Het
Aven	G	A	2: 112,460,130 (GRCm39)	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,416,476 (GRCm39)	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,015,159 (GRCm39)	S144P	probably benign	Het
Chd8	C	A	14: 52,468,989 (GRCm39)	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,501,373 (GRCm39)	N410S	probably benign	Het
Clip4	A	G	17: 72,156,934 (GRCm39)	I590V	probably benign	Het
Cnbp	C	T	6: 87,822,682 (GRCm39)	R27H	probably benign	Het
Col4a3	T	C	1: 82,660,022 (GRCm39)	V889A	unknown	Het
Cxcl5	T	C	5: 90,908,382 (GRCm39)		probably benign	Het
Dennd6a	G	T	14: 26,324,209 (GRCm39)	V171F	probably damaging	Het
Dhx38	T	C	8: 110,289,323 (GRCm39)	I26V	probably benign	Het
Dscaml1	A	G	9: 45,594,970 (GRCm39)	D691G	possibly damaging	Het
Etfdh	A	T	3: 79,519,368 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,228,312 (GRCm39)		probably benign	Het
Foxp2	T	A	6: 15,438,018 (GRCm39)	*715R	probably null	Het
Ftl1	A	T	7: 45,108,070 (GRCm39)	D65E	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gm20721	A	G	2: 174,187,531 (GRCm39)	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,338,277 (GRCm39)	V47A	probably benign	Het
Gm5414	T	C	15: 101,536,569 (GRCm39)	S19G	probably benign	Het
H1f6	C	T	13: 23,880,032 (GRCm39)	L62F	probably damaging	Het
Hdac7	T	A	15: 97,691,816 (GRCm39)	E835D	possibly damaging	Het
Hspg2	C	T	4: 137,286,646 (GRCm39)	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,375,515 (GRCm39)	D114E	probably benign	Het
Kif5a	A	T	10: 127,075,065 (GRCm39)	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,221,218 (GRCm39)		probably null	Het
Miga1	G	T	3: 151,982,327 (GRCm39)	T519K	probably benign	Het
Mtfr1l	G	A	4: 134,256,511 (GRCm39)	P182S	probably damaging	Het
Myo15a	A	G	11: 60,367,818 (GRCm39)	I193V	probably benign	Het
Myo1e	T	C	9: 70,223,871 (GRCm39)		probably benign	Het
Or13a26	A	T	7: 140,284,350 (GRCm39)	Y62F	probably damaging	Het
Or1e1c	A	T	11: 73,265,833 (GRCm39)	Q86L	probably benign	Het
Pias1	T	C	9: 62,820,137 (GRCm39)	T277A	probably benign	Het
Skic3	G	A	13: 76,270,784 (GRCm39)	C127Y	probably damaging	Het
Slamf6	T	A	1: 171,765,666 (GRCm39)	H263Q	probably benign	Het
Snrnp48	A	G	13: 38,404,740 (GRCm39)	D202G	probably damaging	Het
Snx13	T	A	12: 35,148,279 (GRCm39)	D269E	probably damaging	Het
Tiam2	A	T	17: 3,465,303 (GRCm39)	D344V	probably benign	Het
Tmem62	G	T	2: 120,809,700 (GRCm39)	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,797,492 (GRCm39)	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,285,041 (GRCm39)	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,575 (GRCm39)	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,952,353 (GRCm39)	G551D	probably damaging	Het
Ttn	A	G	2: 76,644,634 (GRCm39)	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,916,563 (GRCm39)	Q915*	probably null	Het
Ubfd1	A	G	7: 121,677,695 (GRCm39)	E340G	probably benign	Het
Vil1	T	C	1: 74,474,046 (GRCm39)		probably null	Het
Vmn1r6	T	G	6: 56,979,529 (GRCm39)	L42V	probably benign	Het
Vps13c	A	G	9: 67,834,237 (GRCm39)	T1635A	probably damaging	Het
Zfhx3	T	A	8: 109,520,226 (GRCm39)	H449Q	probably benign	Het
Zfp750	A	T	11: 121,403,922 (GRCm39)	S318T	probably benign	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
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
R0220:Or5h22	UTSW	16	58,895,095 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-06-28