Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Or4b13'

550193

Institutional Source

Beutler Lab

Gene Symbol

Or4b13

Ensembl Gene

ENSMUSG00000075063

Gene Name

olfactory receptor family 4 subfamily B member 13

Synonyms

K20, Olfr142, GA_x6K02T2Q125-51607674-51606757, MOR227-2

MMRRC Submission

045185-MU

Accession Numbers

Essential gene?

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

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90082413-90083330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90082807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 175 (Y175C)

Ref Sequence

ENSEMBL: ENSMUSP00000150216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099752] [ENSMUST00000213968]

AlphaFold

Q60881

Predicted Effect

probably damaging
Transcript: ENSMUST00000099752
AA Change: Y175C

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

SMART Domains

Protein: ENSMUSP00000097341
Gene: ENSMUSG00000075063
AA Change: Y175C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4.3e-53	PFAM
Pfam:7TM_GPCR_Srsx	33	300	3e-6	PFAM
Pfam:7tm_1	39	285	5.8e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213968
AA Change: Y175C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

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
Abhd18	A	C	3: 40,871,173 (GRCm39)	I111L	probably damaging	Het
Ank1	A	G	8: 23,548,679 (GRCm39)	D11G	probably benign	Het
Ank2	G	T	3: 126,817,000 (GRCm39)	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,470,677 (GRCm39)	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692 (GRCm39)	K205E	probably benign	Het
Brca1	T	A	11: 101,417,253 (GRCm39)	M294L	probably benign	Het
Capn1	A	G	19: 6,041,586 (GRCm39)	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,758,670 (GRCm39)	D377E	probably benign	Het
Col6a2	C	T	10: 76,450,925 (GRCm39)	V39I	unknown	Het
Crybg3	T	A	16: 59,377,531 (GRCm39)	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,893,206 (GRCm39)	K3380R	probably benign	Het
Eml5	T	C	12: 98,768,733 (GRCm39)	I1400M	probably benign	Het
Fancd2	A	G	6: 113,522,062 (GRCm39)	D219G	probably damaging	Het
Fras1	A	G	5: 96,856,535 (GRCm39)	S1973G	probably benign	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
G3bp1	T	A	11: 55,387,047 (GRCm39)	H271Q	possibly damaging	Het
Glce	A	G	9: 61,967,870 (GRCm39)	V427A	probably damaging	Het
Gm5141	T	C	13: 62,921,778 (GRCm39)	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,805,294 (GRCm39)	F128I	probably damaging	Het
H2-T13	T	C	17: 36,394,833 (GRCm39)	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,024,707 (GRCm39)	L393W	probably damaging	Het
Heg1	T	C	16: 33,547,090 (GRCm39)	S650P	probably benign	Het
Hspa4l	T	A	3: 40,736,024 (GRCm39)	N569K	probably benign	Het
Ifi206	A	G	1: 173,301,441 (GRCm39)	F746L	unknown	Het
Ivl	T	C	3: 92,479,549 (GRCm39)	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,680,184 (GRCm39)	D433E	probably damaging	Het
Mgam	T	C	6: 40,745,210 (GRCm39)	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 10,986,092 (GRCm39)	L206M	probably damaging	Het
Msln	A	T	17: 25,969,054 (GRCm39)	C444S	probably damaging	Het
Mta1	A	G	12: 113,100,022 (GRCm39)	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Naa15	T	C	3: 51,366,177 (GRCm39)		probably null	Het
Nadk	A	G	4: 155,672,215 (GRCm39)	H302R	probably benign	Het
Neb	T	A	2: 52,146,124 (GRCm39)	N15I		Het
Nup153	A	T	13: 46,837,404 (GRCm39)	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,226,243 (GRCm39)	I763T	probably damaging	Het
Oxsr1	T	C	9: 119,113,727 (GRCm39)	I107V	probably benign	Het
Prmt5	A	G	14: 54,748,799 (GRCm39)		probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,790,116 (GRCm39)	S79P	probably damaging	Het
Reln	T	C	5: 22,104,027 (GRCm39)	I3315V	probably null	Het
Rnf223	T	C	4: 156,217,156 (GRCm39)	V177A	probably benign	Het
Slc20a1	C	T	2: 129,050,192 (GRCm39)	T450M	possibly damaging	Het
Smg5	C	T	3: 88,258,654 (GRCm39)	P542S	probably benign	Het
Sorl1	T	A	9: 41,913,930 (GRCm39)	Q1333L	probably benign	Het
Spag5	T	A	11: 78,204,017 (GRCm39)		probably null	Het
Spopfm1	T	C	3: 94,173,945 (GRCm39)	F314L	probably damaging	Het
Tdp2	T	A	13: 25,022,207 (GRCm39)	F209I	probably damaging	Het
Tgm4	C	A	9: 122,869,525 (GRCm39)	L35M	probably damaging	Het
Tma7	A	G	9: 108,911,580 (GRCm39)		probably benign	Het
Tmprss4	A	T	9: 45,095,571 (GRCm39)	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,223,268 (GRCm39)	M39K	probably benign	Het
Ttn	T	A	2: 76,543,912 (GRCm39)	T33025S	probably benign	Het
Tut1	A	G	19: 8,943,175 (GRCm39)	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,200,904 (GRCm39)	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,438,936 (GRCm39)	G353V	probably benign	Het
Zfp747l1	C	A	7: 126,983,534 (GRCm39)	A523S	possibly damaging	Het
Zfp879	T	A	11: 50,724,222 (GRCm39)	H278L	probably damaging	Het

Other mutations in Or4b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Or4b13	APN	2	90,082,953 (GRCm39)	missense	probably damaging	1.00
IGL01623:Or4b13	APN	2	90,082,953 (GRCm39)	missense	probably damaging	1.00
IGL01810:Or4b13	APN	2	90,082,476 (GRCm39)	nonsense	probably null
IGL01918:Or4b13	APN	2	90,082,675 (GRCm39)	missense	probably damaging	1.00
IGL02619:Or4b13	APN	2	90,082,849 (GRCm39)	missense	probably damaging	0.97
IGL02732:Or4b13	APN	2	90,082,652 (GRCm39)	missense	probably damaging	1.00
IGL02738:Or4b13	APN	2	90,082,699 (GRCm39)	missense	possibly damaging	0.82
IGL02795:Or4b13	APN	2	90,082,906 (GRCm39)	missense	probably damaging	1.00
IGL02830:Or4b13	APN	2	90,083,125 (GRCm39)	missense	probably damaging	1.00
R0601:Or4b13	UTSW	2	90,083,278 (GRCm39)	missense	probably benign	0.05
R2004:Or4b13	UTSW	2	90,083,036 (GRCm39)	missense	probably benign	0.04
R2136:Or4b13	UTSW	2	90,082,597 (GRCm39)	missense	probably damaging	0.98
R2377:Or4b13	UTSW	2	90,083,255 (GRCm39)	missense	probably damaging	1.00
R3615:Or4b13	UTSW	2	90,082,753 (GRCm39)	missense	possibly damaging	0.94
R3616:Or4b13	UTSW	2	90,082,753 (GRCm39)	missense	possibly damaging	0.94
R3777:Or4b13	UTSW	2	90,082,969 (GRCm39)	missense	probably damaging	1.00
R4763:Or4b13	UTSW	2	90,082,807 (GRCm39)	missense	probably damaging	1.00
R4765:Or4b13	UTSW	2	90,082,807 (GRCm39)	missense	probably damaging	1.00
R5421:Or4b13	UTSW	2	90,083,089 (GRCm39)	missense	probably benign	0.01
R5426:Or4b13	UTSW	2	90,082,955 (GRCm39)	nonsense	probably null
R6063:Or4b13	UTSW	2	90,082,771 (GRCm39)	missense	probably benign	0.40
R6717:Or4b13	UTSW	2	90,082,868 (GRCm39)	missense	probably benign	0.00
R6931:Or4b13	UTSW	2	90,083,121 (GRCm39)	nonsense	probably null
R6936:Or4b13	UTSW	2	90,082,678 (GRCm39)	missense	probably benign	0.17
R7013:Or4b13	UTSW	2	90,082,441 (GRCm39)	missense	possibly damaging	0.87
R7247:Or4b13	UTSW	2	90,083,165 (GRCm39)	missense	probably damaging	1.00
R8169:Or4b13	UTSW	2	90,082,442 (GRCm39)	nonsense	probably null
R8345:Or4b13	UTSW	2	90,082,561 (GRCm39)	missense	possibly damaging	0.50
R9222:Or4b13	UTSW	2	90,082,820 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACAGGATGACCACTGTGATG -3'
(R):5'- GTGATGGCCTATGACCGCTATG -3'

Sequencing Primer
(F):5'- CCACTGTGATGTGAGAGGC -3'
(R):5'- GCTATGTGGCCATCTGCAAAC -3'

Posted On

2019-05-15