Mutagenetix > Incidental Mutation

Incidental Mutation 'R8345:Or4b13'

645140

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

067801-MU

Accession Numbers

Essential gene?

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

Stock #

R8345 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90082413-90083330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90082561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 257 (M257K)

Ref Sequence

ENSEMBL: ENSMUSP00000150216 (fasta)

Gene Model

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

AlphaFold

Q60881

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099752
AA Change: M257K

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097341
Gene: ENSMUSG00000075063
AA Change: M257K

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

possibly damaging
Transcript: ENSMUST00000213968
AA Change: M257K

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,508,284 (GRCm39)	V260A	probably benign	Het
Adgrv1	T	C	13: 81,251,505 (GRCm39)	D6204G	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Aspm	T	G	1: 139,392,011 (GRCm39)	Y787*	probably null	Het
Atp8b5	A	C	4: 43,291,714 (GRCm39)	D29A	probably benign	Het
Bdh2	A	T	3: 135,001,013 (GRCm39)	I128F	probably damaging	Het
Bmper	T	A	9: 23,136,126 (GRCm39)	M69K	probably benign	Het
Ccdc7a	C	T	8: 129,525,245 (GRCm39)	M1415I	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cdc23	G	A	18: 34,767,150 (GRCm39)	T564I	probably benign	Het
Cemip	T	A	7: 83,591,373 (GRCm39)		probably null	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Clec2m	T	A	6: 129,302,593 (GRCm39)	N145Y	probably damaging	Het
Cpsf1	T	A	15: 76,485,690 (GRCm39)	T435S	probably benign	Het
Dennd5a	T	C	7: 109,504,477 (GRCm39)	T879A	possibly damaging	Het
Diaph3	G	A	14: 87,066,529 (GRCm39)	Q955*	probably null	Het
Disp2	G	A	2: 118,641,284 (GRCm39)	V298M	unknown	Het
Dnah1	C	A	14: 30,986,551 (GRCm39)	D3671Y	probably damaging	Het
Dnmt3a	T	C	12: 3,885,234 (GRCm39)	S13P	unknown	Het
Eci3	G	A	13: 35,132,164 (GRCm39)	T228I	probably damaging	Het
Ecm2	T	C	13: 49,674,276 (GRCm39)	L232P	probably benign	Het
Ednra	G	A	8: 78,415,813 (GRCm39)	R145C	probably damaging	Het
Faap100	G	T	11: 120,267,856 (GRCm39)	H306N	possibly damaging	Het
Fam8a1	T	A	13: 46,827,054 (GRCm39)	I275K	probably damaging	Het
Fat3	C	A	9: 15,910,570 (GRCm39)	V1811L	probably benign	Het
Fbn2	C	T	18: 58,191,503 (GRCm39)	C1540Y	probably damaging	Het
Fcgbpl1	G	A	7: 27,854,785 (GRCm39)	V1804M	probably damaging	Het
Ffar3	A	G	7: 30,554,789 (GRCm39)	L177P	probably damaging	Het
Fmnl1	A	G	11: 103,077,440 (GRCm39)	T267A	possibly damaging	Het
Fsip1	T	C	2: 118,070,952 (GRCm39)	E246G	probably damaging	Het
Gemin4	A	G	11: 76,101,605 (GRCm39)	L1052P	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Grm5	A	T	7: 87,723,746 (GRCm39)	I679F	probably damaging	Het
Hapln1	A	T	13: 89,732,902 (GRCm39)	D21V	probably benign	Het
Jak2	T	C	19: 29,262,270 (GRCm39)	S364P	probably damaging	Het
Kansl3	A	G	1: 36,387,897 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,924,993 (GRCm39)	L1102S	probably benign	Het
Mbd3l2	A	G	9: 18,355,779 (GRCm39)	I35V	probably benign	Het
Mdfic	G	T	6: 15,799,653 (GRCm39)	C260F	probably damaging	Het
Mroh2b	T	C	15: 4,973,808 (GRCm39)	S1109P	probably benign	Het
Myocd	A	T	11: 65,077,958 (GRCm39)	C612*	probably null	Het
Or4c102	A	G	2: 88,422,435 (GRCm39)	M96V	probably benign	Het
Or4f17-ps1	T	A	2: 111,357,864 (GRCm39)	C86*	probably null	Het
Or52h7	T	A	7: 104,213,431 (GRCm39)	M1K	probably null	Het
Or5w22	A	T	2: 87,362,691 (GRCm39)	T105S	probably benign	Het
Or8k21	A	T	2: 86,145,451 (GRCm39)	Y60N	probably damaging	Het
Pard3	C	T	8: 128,050,549 (GRCm39)	R204W	probably damaging	Het
Per1	T	A	11: 68,998,382 (GRCm39)	N1031K	possibly damaging	Het
Plekhh3	A	G	11: 101,055,105 (GRCm39)	S583P	unknown	Het
Pramel12	C	T	4: 143,143,438 (GRCm39)	T68I	probably benign	Het
Prex2	T	A	1: 11,270,118 (GRCm39)	C1268S	possibly damaging	Het
Prpf6	T	C	2: 181,291,951 (GRCm39)	I756T	probably benign	Het
Pum2	T	C	12: 8,759,454 (GRCm39)	V98A	probably damaging	Het
Rad50	A	T	11: 53,574,968 (GRCm39)	S652T	probably benign	Het
Rfng	G	T	11: 120,674,901 (GRCm39)	P30T	unknown	Het
Rfx7	T	C	9: 72,524,973 (GRCm39)	I721T	probably benign	Het
Rpf1	G	T	3: 146,213,431 (GRCm39)	T240K	probably benign	Het
Ryr3	T	C	2: 112,483,270 (GRCm39)	N4189S	probably benign	Het
Samd15	G	C	12: 87,248,212 (GRCm39)	R299T	probably benign	Het
Scn3a	A	G	2: 65,329,335 (GRCm39)	M765T	possibly damaging	Het
Scn9a	G	A	2: 66,324,966 (GRCm39)	S1396L	probably damaging	Het
Sec24a	C	T	11: 51,634,605 (GRCm39)	R107Q	probably benign	Het
Sema4b	T	A	7: 79,870,567 (GRCm39)	V505E	probably damaging	Het
Siglec1	T	A	2: 130,920,498 (GRCm39)	T769S	possibly damaging	Het
Sit1	T	C	4: 43,483,168 (GRCm39)	E69G	possibly damaging	Het
Slc12a8	C	A	16: 33,371,321 (GRCm39)	D121E	probably benign	Het
Slc30a10	A	T	1: 185,187,664 (GRCm39)	Q135L	probably benign	Het
Suox	A	G	10: 128,507,200 (GRCm39)	V276A	probably benign	Het
Tbc1d9b	A	G	11: 50,040,659 (GRCm39)	D392G	probably damaging	Het
Tmed5	A	G	5: 108,273,823 (GRCm39)	W139R	probably damaging	Het
Tnks1bp1	C	T	2: 84,893,226 (GRCm39)	T389I	possibly damaging	Het
Vmn1r65	A	T	7: 6,011,256 (GRCm39)	I326K	probably benign	Het
Vmn2r43	A	G	7: 8,256,601 (GRCm39)	S421P	possibly damaging	Het
Vmn2r57	A	T	7: 41,076,968 (GRCm39)	N399K	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,127 (GRCm39)	L229*	probably null	Het
Vwf	A	T	6: 125,656,265 (GRCm39)	D2610V		Het
Zfp646	C	T	7: 127,483,082 (GRCm39)	S1753L	probably benign	Het
Zfy2	C	A	Y: 2,107,096 (GRCm39)	V513F	possibly damaging	Het
Zranb2	A	T	3: 157,251,731 (GRCm39)	I317F	unknown	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
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
R9222:Or4b13	UTSW	2	90,082,820 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCCTACTAAAGACAGATCCCATTTC -3'
(R):5'- CACTGACACCTTTATGGAGGG -3'

Sequencing Primer
(F):5'- TAAAGACAGATCCCATTTCAATAAGC -3'
(R):5'- GGTTTATTGTGATGGCCAACAG -3'

Posted On

2020-09-02