Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Or5h22'

316847

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

040856-MU

Accession Numbers

Essential gene?

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

Stock #

R4080 (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 58894619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 275 (F275I)

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: F275I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071224
Gene: ENSMUSG00000064006
AA Change: F275I

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: F275I

Predicted Effect

probably damaging
Transcript: ENSMUST00000215687
AA Change: F275I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216495
AA Change: F275I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adam7	T	C	14: 68,757,988 (GRCm39)	T245A	probably benign	Het
Adgrf3	G	A	5: 30,402,367 (GRCm39)	Q554*	probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Aspm	C	A	1: 139,398,493 (GRCm39)	Q1024K	probably damaging	Het
C7	T	C	15: 5,019,946 (GRCm39)	S734G	probably benign	Het
Ccdc158	A	T	5: 92,771,255 (GRCm39)	S987T	probably benign	Het
Chrna2	C	A	14: 66,380,873 (GRCm39)	Y47*	probably null	Het
Chrna2	G	T	14: 66,380,866 (GRCm39)	G45V	probably benign	Het
Clec2g	C	A	6: 128,958,287 (GRCm39)	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,029,304 (GRCm39)	S253G	probably benign	Het
Cttn	T	A	7: 144,011,461 (GRCm39)	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,790,973 (GRCm39)	V286A	probably benign	Het
Dcbld2	T	A	16: 58,285,736 (GRCm39)	S632T	probably damaging	Het
Dscam	A	T	16: 96,484,972 (GRCm39)	N1118K	probably benign	Het
Eif2a	C	T	3: 58,447,050 (GRCm39)	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382 (GRCm39)	C1068S	probably benign	Het
Fstl1	G	A	16: 37,642,965 (GRCm39)	V110I	probably benign	Het
Gpat2	T	C	2: 127,275,542 (GRCm39)	I465T	probably damaging	Het
Gpr137	C	T	19: 6,917,791 (GRCm39)		probably benign	Het
Hgsnat	A	G	8: 26,436,371 (GRCm39)	I561T	probably benign	Het
Ift74	T	A	4: 94,541,149 (GRCm39)		probably null	Het
Ilf3	A	G	9: 21,314,430 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc41	C	A	4: 115,937,743 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,923 (GRCm39)	R700L	possibly damaging	Het
Myo16	A	G	8: 10,612,240 (GRCm39)	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,873,559 (GRCm39)	M1488V	probably benign	Het
Naip6	A	T	13: 100,435,815 (GRCm39)	Y903N	probably damaging	Het
Nek6	A	G	2: 38,440,649 (GRCm39)	H19R	probably damaging	Het
Nktr	A	C	9: 121,570,192 (GRCm39)	T127P	probably damaging	Het
Noc4l	A	T	5: 110,797,738 (GRCm39)	D335E	probably benign	Het
Nsd1	A	G	13: 55,449,622 (GRCm39)	D1993G	probably damaging	Het
Or1ad1	G	A	11: 50,875,683 (GRCm39)	D52N	probably damaging	Het
Pabpc2	A	T	18: 39,908,583 (GRCm39)	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,832 (GRCm39)	D127V	probably damaging	Het
Phrf1	T	C	7: 140,839,633 (GRCm39)		probably benign	Het
Phtf2	T	A	5: 21,018,294 (GRCm39)	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,624,755 (GRCm39)	R1200L	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Prss12	A	G	3: 123,279,134 (GRCm39)	N404D	probably benign	Het
Ptch2	C	G	4: 116,968,403 (GRCm39)	A926G	probably damaging	Het
Ptpra	T	C	2: 30,333,317 (GRCm39)	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293 (GRCm39)	I853T	possibly damaging	Het
Reep6	G	A	10: 80,165,996 (GRCm39)		probably benign	Het
Rex2	T	A	4: 147,143,154 (GRCm39)	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,222 (GRCm39)	E55K	probably damaging	Het
Rtl6	T	C	15: 84,441,202 (GRCm39)	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,354,859 (GRCm39)	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,478,302 (GRCm39)	S505G	probably benign	Het
Scube1	T	G	15: 83,492,948 (GRCm39)	Q904P	probably damaging	Het
Sis	T	C	3: 72,828,517 (GRCm39)	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,648,329 (GRCm39)	E200G	probably damaging	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sybu	T	C	15: 44,582,339 (GRCm39)	K95R	probably damaging	Het
Trappc9	T	A	15: 72,813,796 (GRCm39)	D488V	probably damaging	Het
Txk	G	A	5: 72,858,006 (GRCm39)	P381S	probably damaging	Het
Ubr2	A	T	17: 47,299,648 (GRCm39)	M198K	probably benign	Het
Unc5a	A	T	13: 55,152,294 (GRCm39)	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,991,959 (GRCm39)	R231Q	probably damaging	Het
Wfdc1	T	A	8: 120,410,532 (GRCm39)		probably null	Het
Zfp667	T	G	7: 6,308,105 (GRCm39)	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	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
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
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
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'- TTGGCCATTGTCAAAGGAAGATAAG -3'
(R):5'- TGTCCTATACACTAGTGCTATTGACG -3'

Sequencing Primer
(F):5'- TGTGAGGGCTAAGCCTTT -3'
(R):5'- GACGATTTTGCAAAGGAAGTCTGTCC -3'

Posted On

2015-05-15