Mutagenetix > Incidental Mutation

Incidental Mutation 'R9050:Or1o4'

688321

Institutional Source

Beutler Lab

Gene Symbol

Or1o4

Ensembl Gene

ENSMUSG00000061972

Gene Name

olfactory receptor family 1 subfamily O member 4

Synonyms

MOR156-1, GA_x6K02T2PSCP-1720261-1719344, Olfr99

MMRRC Submission

068876-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R9050 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37590392-37591309 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37590820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 164 (Y164H)

Ref Sequence

ENSEMBL: ENSMUSP00000148900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077585] [ENSMUST00000216328]

AlphaFold

Q8VFE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077585
AA Change: Y164H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076781
Gene: ENSMUSG00000061972
AA Change: Y164H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.8e-58	PFAM
Pfam:7TM_GPCR_Srsx	32	302	1.4e-6	PFAM
Pfam:7tm_1	38	287	1e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216328
AA Change: Y164H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,208,605 (GRCm39)	Y332H	probably benign	Het
Apoc3	A	G	9: 46,144,592 (GRCm39)	F77L	probably benign	Het
Atp5f1c	A	T	2: 10,069,049 (GRCm39)	D99E	probably damaging	Het
Atxn3	A	T	12: 101,924,387 (GRCm39)		probably benign	Het
Calcoco1	A	G	15: 102,618,400 (GRCm39)	V463A	probably damaging	Het
Cby3	A	G	11: 50,248,617 (GRCm39)	T20A	possibly damaging	Het
Cdhr2	A	G	13: 54,883,133 (GRCm39)	D1256G	probably benign	Het
Cep350	A	T	1: 155,738,687 (GRCm39)	D2385E	possibly damaging	Het
Clec9a	G	C	6: 129,396,561 (GRCm39)	A170P	possibly damaging	Het
Col5a3	C	T	9: 20,697,691 (GRCm39)	G871S	probably damaging	Het
Fmo4	A	G	1: 162,635,099 (GRCm39)	S159P	probably benign	Het
Gabbr2	A	G	4: 46,798,659 (GRCm39)	F272L	probably benign	Het
Glp1r	G	A	17: 31,137,892 (GRCm39)	G108S	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Hps5	T	C	7: 46,422,607 (GRCm39)	D574G	probably benign	Het
Il7	A	G	3: 7,669,170 (GRCm39)	V22A	possibly damaging	Het
Kmt5c	A	G	7: 4,745,281 (GRCm39)	T91A	probably benign	Het
Mrpl39	A	C	16: 84,531,844 (GRCm39)		probably benign	Het
Mtr	T	C	13: 12,231,748 (GRCm39)	D652G	probably null	Het
Neb	C	T	2: 52,079,901 (GRCm39)	V5768M	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nicol1	G	C	5: 34,140,874 (GRCm39)	A29P	unknown	Het
Nmrk1	T	A	19: 18,618,539 (GRCm39)	M74K	probably benign	Het
Obox8	A	G	7: 14,066,870 (GRCm39)	L58P	unknown	Het
Oga	T	C	19: 45,756,354 (GRCm39)	T430A	probably damaging	Het
Or2b2	A	G	13: 21,887,150 (GRCm39)		probably benign	Het
Or2y1e	T	C	11: 49,218,930 (GRCm39)	S231P	possibly damaging	Het
Or5p62	A	C	7: 107,771,087 (GRCm39)	L288W	probably damaging	Het
Pcdhb17	T	G	18: 37,620,286 (GRCm39)	V692G	probably damaging	Het
Pfas	A	G	11: 68,882,567 (GRCm39)	V829A	probably benign	Het
Pramel24	A	T	4: 143,453,329 (GRCm39)	T146S	probably benign	Het
Pth	A	G	7: 112,985,043 (GRCm39)	V110A	probably benign	Het
Rabggta	T	A	14: 55,959,056 (GRCm39)	Q37L	probably benign	Het
Rin3	A	G	12: 102,335,738 (GRCm39)	T550A	probably damaging	Het
Scn8a	G	A	15: 100,906,161 (GRCm39)	V785I	possibly damaging	Het
Sec24d	T	C	3: 123,144,374 (GRCm39)	V617A	probably benign	Het
Slc47a1	T	C	11: 61,235,160 (GRCm39)	I558V	probably benign	Het
Slc6a15	A	T	10: 103,252,516 (GRCm39)	M560L	possibly damaging	Het
Slfn9	G	A	11: 82,879,120 (GRCm39)	T3I	probably benign	Het
Spag9	A	G	11: 93,935,294 (GRCm39)	H35R	probably damaging	Het
Spats2	G	T	15: 99,110,010 (GRCm39)	R469L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Ssx2ip	C	T	3: 146,144,512 (GRCm39)	S592L	possibly damaging	Het
Ston1	A	G	17: 88,944,228 (GRCm39)	T545A	probably benign	Het
Suz12	C	T	11: 79,913,023 (GRCm39)	L379F	probably damaging	Het
Tbc1d24	C	A	17: 24,404,899 (GRCm39)	V82L	probably benign	Het
Tbc1d24	A	T	17: 24,404,898 (GRCm39)	V82E	possibly damaging	Het
Thada	A	G	17: 84,736,629 (GRCm39)	I884T	probably damaging	Het
Tln1	C	A	4: 43,549,786 (GRCm39)	E542*	probably null	Het
Togaram2	T	C	17: 72,007,878 (GRCm39)	L401P	probably damaging	Het
Ttbk2	A	T	2: 120,637,319 (GRCm39)	N115K	probably benign	Het
Tubgcp4	G	A	2: 121,004,079 (GRCm39)	S40N	probably benign	Het
Wrn	T	C	8: 33,833,021 (GRCm39)	D157G	probably damaging	Het
Zer1	A	T	2: 30,001,294 (GRCm39)	F70Y	probably damaging	Het
Zfp791	T	C	8: 85,837,334 (GRCm39)	I177V	possibly damaging	Het

Other mutations in Or1o4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01878:Or1o4	APN	17	37,590,891 (GRCm39)	missense	possibly damaging	0.46
IGL02954:Or1o4	APN	17	37,591,195 (GRCm39)	missense	probably damaging	1.00
R0533:Or1o4	UTSW	17	37,591,182 (GRCm39)	nonsense	probably null
R1480:Or1o4	UTSW	17	37,590,636 (GRCm39)	missense	probably benign	0.01
R2872:Or1o4	UTSW	17	37,590,867 (GRCm39)	missense	possibly damaging	0.64
R2872:Or1o4	UTSW	17	37,590,867 (GRCm39)	missense	possibly damaging	0.64
R3772:Or1o4	UTSW	17	37,590,745 (GRCm39)	missense	probably benign	0.00
R3826:Or1o4	UTSW	17	37,591,140 (GRCm39)	missense	probably damaging	1.00
R3827:Or1o4	UTSW	17	37,591,140 (GRCm39)	missense	probably damaging	1.00
R3829:Or1o4	UTSW	17	37,591,140 (GRCm39)	missense	probably damaging	1.00
R5210:Or1o4	UTSW	17	37,590,824 (GRCm39)	missense	probably benign	0.13
R5361:Or1o4	UTSW	17	37,590,501 (GRCm39)	missense	probably benign	0.02
R6213:Or1o4	UTSW	17	37,591,264 (GRCm39)	missense	probably benign
R6399:Or1o4	UTSW	17	37,590,666 (GRCm39)	missense	probably damaging	1.00
R6881:Or1o4	UTSW	17	37,591,200 (GRCm39)	missense	probably benign	0.01
R7938:Or1o4	UTSW	17	37,590,991 (GRCm39)	missense	probably benign	0.03
R8097:Or1o4	UTSW	17	37,590,818 (GRCm39)	nonsense	probably null
R8125:Or1o4	UTSW	17	37,590,935 (GRCm39)	missense	probably benign	0.01
R8218:Or1o4	UTSW	17	37,590,711 (GRCm39)	missense	probably benign
R9126:Or1o4	UTSW	17	37,590,745 (GRCm39)	missense	probably benign	0.00
R9434:Or1o4	UTSW	17	37,591,254 (GRCm39)	missense	probably benign	0.01
R9495:Or1o4	UTSW	17	37,591,386 (GRCm39)	start gained	probably benign
R9514:Or1o4	UTSW	17	37,591,386 (GRCm39)	start gained	probably benign
Z1176:Or1o4	UTSW	17	37,590,565 (GRCm39)	missense	probably damaging	0.99
Z1177:Or1o4	UTSW	17	37,591,100 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCACGTGGACAATGCTTTC -3'
(R):5'- GACATGGATAACCTGCTTCTAGC -3'

Sequencing Primer
(F):5'- TGCTGATGGAACCTTAGCCACAG -3'
(R):5'- CTAGCAGTCATGGCTATTGACAG -3'

Posted On

2021-11-19