Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Or4b13'

426544

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

Accession Numbers

Essential gene?

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

Stock #

R5421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90082413-90083330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90083089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 81 (T81I)

Ref Sequence

ENSEMBL: ENSMUSP00000150216 (fasta)

Gene Model

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

AlphaFold

Q60881

Predicted Effect

probably benign
Transcript: ENSMUST00000099752
AA Change: T81I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097341
Gene: ENSMUSG00000075063
AA Change: T81I

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 benign
Transcript: ENSMUST00000213968
AA Change: T81I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,421,876 (GRCm39)	Q882L	probably damaging	Het
Afdn	T	C	17: 14,052,668 (GRCm39)	V525A	probably benign	Het
AI987944	T	C	7: 41,024,200 (GRCm39)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,363,271 (GRCm39)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,241,504 (GRCm39)	S685P	probably benign	Het
Blnk	C	A	19: 40,956,967 (GRCm39)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,623,355 (GRCm39)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,909,577 (GRCm39)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,499,749 (GRCm39)	P645L	probably benign	Het
Cadm2	A	T	16: 66,568,513 (GRCm39)	C248*	probably null	Het
Cdk6	T	C	5: 3,523,120 (GRCm39)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm39)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,438,964 (GRCm39)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,996,186 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,326,462 (GRCm39)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,143,132 (GRCm39)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,545,655 (GRCm39)	Y262H	probably damaging	Het
Far2	A	G	6: 148,047,690 (GRCm39)		probably null	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Folr2	C	T	7: 101,489,851 (GRCm39)	R139H	probably benign	Het
Fxn	A	T	19: 24,254,649 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,747,908 (GRCm39)	N263T	probably damaging	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Htr5a	G	T	5: 28,055,985 (GRCm39)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,146,385 (GRCm39)	Y772*	probably null	Het
Kif12	T	C	4: 63,089,665 (GRCm39)	S59G	probably benign	Het
Kifc3	C	T	8: 95,836,473 (GRCm39)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,575,406 (GRCm39)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,428,008 (GRCm39)		probably null	Het
Nek1	A	C	8: 61,459,711 (GRCm39)	R6S	possibly damaging	Het
Or5p68	G	C	7: 107,946,182 (GRCm39)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,861 (GRCm39)	R260*	probably null	Het
Palld	C	T	8: 61,969,584 (GRCm39)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 21,176,968 (GRCm39)	Y169N	probably benign	Het
Rad50	T	C	11: 53,565,773 (GRCm39)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,509,368 (GRCm39)	K915*	probably null	Het
Rasal2	T	C	1: 157,126,711 (GRCm39)	K109R	probably benign	Het
Rc3h1	G	A	1: 160,779,400 (GRCm39)		probably null	Het
Rnf6	C	T	5: 146,147,339 (GRCm39)	V560I	probably benign	Het
Samd8	A	G	14: 21,842,563 (GRCm39)	D295G	probably damaging	Het
Scart1	T	C	7: 139,803,813 (GRCm39)	L337P	probably damaging	Het
Serpinb2	T	C	1: 107,451,581 (GRCm39)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc28a3	A	T	13: 58,722,079 (GRCm39)	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,278,346 (GRCm39)	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,579,356 (GRCm39)	T52S	possibly damaging	Het
Spta1	A	G	1: 174,043,095 (GRCm39)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 119,911,261 (GRCm39)		noncoding transcript	Het
Syt9	T	C	7: 107,024,563 (GRCm39)	V152A	probably benign	Het
Thoc2l	A	T	5: 104,666,261 (GRCm39)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm39)	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409 (GRCm39)	M40I	possibly damaging	Het
Ucp1	G	A	8: 84,017,320 (GRCm39)	A37T	probably benign	Het
Vapa	A	G	17: 65,902,031 (GRCm39)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,803,882 (GRCm39)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,434,401 (GRCm39)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,282,805 (GRCm39)	T604A	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Wwc1	C	T	11: 35,801,123 (GRCm39)	E105K	possibly damaging	Het
Wwc1	T	G	11: 35,766,890 (GRCm39)	D455A	possibly damaging	Het
Zfp426	G	A	9: 20,382,015 (GRCm39)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,517,335 (GRCm39)	N105K	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
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
R7091:Or4b13	UTSW	2	90,082,807 (GRCm39)	missense	probably damaging	1.00
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'- TGTGACACACTTGACGACTC -3'
(R):5'- ACCGAGTTAATTTTCACTGGCC -3'

Sequencing Primer
(F):5'- GTGACACACTTGACGACTCATGATG -3'
(R):5'- TTCCAGGATCCAGAGGTTCAG -3'

Posted On

2016-09-01