Mutagenetix > Incidental Mutation

Incidental Mutation 'R8438:Or6b13'

654110

Institutional Source

Beutler Lab

Gene Symbol

Or6b13

Ensembl Gene

ENSMUSG00000050366

Gene Name

olfactory receptor family 6 subfamily B member 13

Synonyms

GA_x6K02T2PBJ9-42354580-42353624, MOR103-14P, Olfr524

MMRRC Submission

067778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8438 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139781299-139785192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139782170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 171 (C171F)

Ref Sequence

ENSEMBL: ENSMUSP00000150970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051943] [ENSMUST00000215815]

AlphaFold

Q7TRU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000051943
AA Change: C171F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000053565
Gene: ENSMUSG00000050366
AA Change: C171F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	7.5e-56	PFAM
Pfam:7tm_1	42	292	6.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215815
AA Change: C171F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,201,962 (GRCm39)		probably null	Het
5730480H06Rik	A	T	5: 48,534,425 (GRCm39)	H95L	probably damaging	Het
Abca8a	A	G	11: 109,966,404 (GRCm39)	Y410H	probably damaging	Het
Abcb4	G	A	5: 8,996,120 (GRCm39)		probably null	Het
Adam8	C	T	7: 139,565,249 (GRCm39)		probably null	Het
Aldh1l1	C	T	6: 90,536,428 (GRCm39)	P111L	probably damaging	Het
Baz2b	G	T	2: 59,747,828 (GRCm39)	Y1278*	probably null	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Casp9	C	A	4: 141,540,934 (GRCm39)	T434N	probably benign	Het
Cd19	C	A	7: 126,013,515 (GRCm39)	M91I	possibly damaging	Het
Celsr2	G	A	3: 108,301,139 (GRCm39)	T2718M	probably damaging	Het
Clptm1	G	T	7: 19,379,776 (GRCm39)	D153E	probably benign	Het
Col1a2	G	A	6: 4,515,517 (GRCm39)	G127S	unknown	Het
Col1a2	G	T	6: 4,515,518 (GRCm39)	G127V	unknown	Het
Crybg3	A	G	16: 59,385,655 (GRCm39)	S190P	probably benign	Het
Ddrgk1	G	A	2: 130,505,302 (GRCm39)		probably benign	Het
Dennd1a	T	C	2: 37,746,150 (GRCm39)	H402R	probably benign	Het
Dgat2	T	C	7: 98,806,207 (GRCm39)	Y330C	probably damaging	Het
Dnah7b	G	A	1: 46,227,839 (GRCm39)	C1354Y	probably damaging	Het
Ecd	T	A	14: 20,388,533 (GRCm39)	I119L	possibly damaging	Het
Entpd1	A	G	19: 40,725,224 (GRCm39)	K437E	possibly damaging	Het
Fcgbp	C	T	7: 27,789,231 (GRCm39)	A599V	probably benign	Het
Gtf3c1	G	T	7: 125,241,701 (GRCm39)	S1999*	probably null	Het
Hesx1	C	T	14: 26,723,460 (GRCm39)	R97C	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hoxb3	A	G	11: 96,236,609 (GRCm39)	N229S	probably benign	Het
Itpk1	G	A	12: 102,572,418 (GRCm39)		probably benign	Het
Itprid1	C	T	6: 55,874,878 (GRCm39)	S276L	probably damaging	Het
Masp1	T	C	16: 23,289,153 (GRCm39)	D549G	probably benign	Het
Mef2c	A	G	13: 83,804,336 (GRCm39)	E312G	probably damaging	Het
Morn5	A	G	2: 35,945,076 (GRCm39)	K100R	probably benign	Het
Mphosph9	A	T	5: 124,430,455 (GRCm39)	D610E	probably benign	Het
Obox6	G	C	7: 15,567,853 (GRCm39)	A198G	probably damaging	Het
Or2t43	A	T	11: 58,457,665 (GRCm39)	S169T	possibly damaging	Het
Or4a75	C	T	2: 89,448,054 (GRCm39)	V161M	possibly damaging	Het
Or4a80	A	T	2: 89,583,061 (GRCm39)	M37K	probably damaging	Het
Pcdhgb2	A	G	18: 37,825,232 (GRCm39)	N741S	probably benign	Het
Plekhh2	A	G	17: 84,877,379 (GRCm39)	N575D	probably benign	Het
Plxna4	C	A	6: 32,179,115 (GRCm39)	G967W	probably damaging	Het
Ppp3cb	C	T	14: 20,565,658 (GRCm39)	M373I	probably damaging	Het
Sec14l2	C	A	11: 4,059,202 (GRCm39)	E156*	probably null	Het
Srrt	A	T	5: 137,301,262 (GRCm39)	Y55N	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,743,057 (GRCm39)	T789I	probably damaging	Het
Top3b	G	T	16: 16,709,364 (GRCm39)	S684I	probably benign	Het
Trpc4	A	G	3: 54,129,674 (GRCm39)	I147V	possibly damaging	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn1r31	T	A	6: 58,449,646 (GRCm39)	D73V		Het
Wasf3	A	T	5: 146,390,237 (GRCm39)	Q127L	probably benign	Het
Xpo6	T	C	7: 125,760,054 (GRCm39)	T182A	possibly damaging	Het
Xpo7	C	A	14: 70,940,672 (GRCm39)	R139S	probably benign	Het
Zfp687	A	T	3: 94,915,433 (GRCm39)	S1058T	probably benign	Het
Zfp786	T	C	6: 47,796,934 (GRCm39)	E668G	probably damaging	Het
Zfp831	A	T	2: 174,486,796 (GRCm39)	R490S	possibly damaging	Het

Other mutations in Or6b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01991:Or6b13	APN	7	139,782,345 (GRCm39)	missense	probably damaging	1.00
IGL01999:Or6b13	APN	7	139,782,345 (GRCm39)	missense	probably damaging	1.00
IGL02005:Or6b13	APN	7	139,782,345 (GRCm39)	missense	probably damaging	1.00
IGL02030:Or6b13	APN	7	139,782,545 (GRCm39)	missense	probably damaging	0.97
IGL02474:Or6b13	APN	7	139,782,500 (GRCm39)	missense	probably damaging	1.00
H8441:Or6b13	UTSW	7	139,781,871 (GRCm39)	missense	possibly damaging	0.81
R0426:Or6b13	UTSW	7	139,782,029 (GRCm39)	missense	possibly damaging	0.81
R0704:Or6b13	UTSW	7	139,782,548 (GRCm39)	missense	probably benign	0.00
R0891:Or6b13	UTSW	7	139,782,372 (GRCm39)	missense	probably damaging	1.00
R1624:Or6b13	UTSW	7	139,781,864 (GRCm39)	missense	probably damaging	0.96
R1865:Or6b13	UTSW	7	139,782,285 (GRCm39)	missense	probably damaging	1.00
R1938:Or6b13	UTSW	7	139,782,144 (GRCm39)	missense	probably benign	0.30
R2105:Or6b13	UTSW	7	139,782,656 (GRCm39)	missense	probably benign	0.02
R3009:Or6b13	UTSW	7	139,782,669 (GRCm39)	missense	probably benign
R3546:Or6b13	UTSW	7	139,782,014 (GRCm39)	missense	probably damaging	1.00
R4849:Or6b13	UTSW	7	139,782,340 (GRCm39)	nonsense	probably null
R5009:Or6b13	UTSW	7	139,781,751 (GRCm39)	missense	probably benign
R5105:Or6b13	UTSW	7	139,782,462 (GRCm39)	missense	probably damaging	1.00
R5413:Or6b13	UTSW	7	139,782,635 (GRCm39)	missense	possibly damaging	0.94
R5422:Or6b13	UTSW	7	139,782,305 (GRCm39)	missense	probably damaging	1.00
R7314:Or6b13	UTSW	7	139,782,326 (GRCm39)	missense	probably damaging	0.99
R7338:Or6b13	UTSW	7	139,782,446 (GRCm39)	missense	probably benign	0.01
R7921:Or6b13	UTSW	7	139,782,212 (GRCm39)	missense	probably damaging	1.00
R9261:Or6b13	UTSW	7	139,782,563 (GRCm39)	missense	probably benign	0.29
V1662:Or6b13	UTSW	7	139,781,871 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TGAATAGAAGATGACCACCACG -3'
(R):5'- TGCATGGCCCAACTGTACTTC -3'

Sequencing Primer
(F):5'- GCAGGTGGAGAAGGCCTTC -3'
(R):5'- ACTGGCCTGTACCGAGTG -3'

Posted On

2020-10-20