Mutagenetix > Incidental Mutation

Incidental Mutation 'R6449:Or5c1'

519276

Institutional Source

Beutler Lab

Gene Symbol

Or5c1

Ensembl Gene

ENSMUSG00000049018

Gene Name

olfactory receptor family 5 subfamily C member 1

Synonyms

GA_x6K02T2NLDC-34015743-34016726, Olfr368, MOR178-1

MMRRC Submission

044585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R6449 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37221761-37222744 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37221837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 26 (D26G)

Ref Sequence

ENSEMBL: ENSMUSP00000149348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053990] [ENSMUST00000217299]

AlphaFold

Q8VF22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053990
AA Change: D26G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054082
Gene: ENSMUSG00000049018
AA Change: D26G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	311	2.2e-45	PFAM
Pfam:7tm_1	45	294	1.2e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217299
AA Change: D26G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.0946

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,298 (GRCm39)	Q334*	probably null	Het
Aadacl2fm2	A	T	3: 59,652,972 (GRCm39)	D137V	probably damaging	Het
Adam28	T	C	14: 68,868,116 (GRCm39)	T410A	probably benign	Het
Ano10	T	C	9: 122,030,754 (GRCm39)		probably benign	Het
Bmpr2	T	A	1: 59,906,596 (GRCm39)	V563E	probably damaging	Het
Ccdc47	A	G	11: 106,095,811 (GRCm39)	L295P	probably damaging	Het
Cdhr1	T	C	14: 36,812,554 (GRCm39)	T210A	probably benign	Het
Col16a1	G	A	4: 129,960,486 (GRCm39)	A408T	unknown	Het
Csnk1g2	A	G	10: 80,475,906 (GRCm39)	K415R	probably damaging	Het
Cyp2c29	G	T	19: 39,279,311 (GRCm39)	A103S	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg1b	A	T	18: 20,527,498 (GRCm39)	I210F	possibly damaging	Het
Fhod1	T	A	8: 106,056,869 (GRCm39)	D1002V	probably damaging	Het
Gm5592	G	A	7: 40,938,010 (GRCm39)	V431I	probably benign	Het
Gtpbp4	A	T	13: 9,040,773 (GRCm39)	C174*	probably null	Het
Il2ra	A	G	2: 11,685,173 (GRCm39)	K170E	probably benign	Het
Itch	T	C	2: 155,005,315 (GRCm39)		probably benign	Het
Jazf1	A	C	6: 52,754,640 (GRCm39)	D145E	probably damaging	Het
Kank2	G	T	9: 21,691,858 (GRCm39)	A469E	possibly damaging	Het
Kirrel3	A	G	9: 34,902,269 (GRCm39)	I125V	probably benign	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Krtap27-1	C	T	16: 88,467,941 (GRCm39)	S201N	probably benign	Het
Map3k20	T	C	2: 72,228,758 (GRCm39)	S326P	probably damaging	Het
Mkks	C	A	2: 136,716,206 (GRCm39)	V565F	probably damaging	Het
Ntaq1	T	G	15: 58,013,994 (GRCm39)		probably null	Het
Or5k8	A	T	16: 58,644,889 (GRCm39)	I61N	probably damaging	Het
Or5w11	T	C	2: 87,459,493 (GRCm39)	S229P	possibly damaging	Het
Pacsin3	A	T	2: 91,090,514 (GRCm39)		probably null	Het
Pdcd7	A	G	9: 65,264,057 (GRCm39)	E434G	probably damaging	Het
Plekhb2	T	C	1: 34,903,564 (GRCm39)	F102L	probably benign	Het
Ppp1r9a	A	G	6: 5,057,458 (GRCm39)	D191G	probably benign	Het
Psmd3	A	G	11: 98,576,466 (GRCm39)	T123A	probably benign	Het
Ptprq	C	T	10: 107,541,444 (GRCm39)	V361M	probably benign	Het
Raver2	A	G	4: 100,990,869 (GRCm39)	D414G	probably benign	Het
Rnf123	G	A	9: 107,933,252 (GRCm39)	H1162Y	probably benign	Het
Sema4f	A	G	6: 82,894,851 (GRCm39)	V448A	probably benign	Het
Tcf12	A	T	9: 71,775,550 (GRCm39)	M400K	probably damaging	Het
Tcl1b2	G	T	12: 105,119,261 (GRCm39)	E50*	probably null	Het
Thada	A	C	17: 84,736,601 (GRCm39)	D893E	probably benign	Het
Trim24	G	A	6: 37,880,587 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,071,050 (GRCm39)	S1308P	probably benign	Het
Ubtfl1	T	A	9: 18,320,925 (GRCm39)	I151N	possibly damaging	Het
Vmn2r70	A	T	7: 85,214,157 (GRCm39)	F332I	probably damaging	Het
Zfhx4	A	G	3: 5,307,488 (GRCm39)	D238G	probably damaging	Het
Zfp639	A	G	3: 32,573,810 (GRCm39)	H145R	possibly damaging	Het

Other mutations in Or5c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01597:Or5c1	APN	2	37,222,023 (GRCm39)	missense	possibly damaging	0.60
IGL02955:Or5c1	APN	2	37,222,013 (GRCm39)	missense	probably benign	0.07
IGL03028:Or5c1	APN	2	37,221,968 (GRCm39)	missense	probably damaging	1.00
IGL03084:Or5c1	APN	2	37,222,413 (GRCm39)	missense	probably damaging	1.00
R1626:Or5c1	UTSW	2	37,222,774 (GRCm39)	splice site	probably null
R1655:Or5c1	UTSW	2	37,221,951 (GRCm39)	missense	probably damaging	1.00
R1771:Or5c1	UTSW	2	37,222,430 (GRCm39)	missense	probably benign	0.23
R1937:Or5c1	UTSW	2	37,221,896 (GRCm39)	missense	probably damaging	1.00
R2297:Or5c1	UTSW	2	37,222,155 (GRCm39)	missense	probably benign	0.04
R4354:Or5c1	UTSW	2	37,221,888 (GRCm39)	missense	probably damaging	1.00
R4888:Or5c1	UTSW	2	37,222,601 (GRCm39)	missense	probably damaging	1.00
R4974:Or5c1	UTSW	2	37,222,578 (GRCm39)	missense	probably damaging	1.00
R5121:Or5c1	UTSW	2	37,222,601 (GRCm39)	missense	probably damaging	1.00
R6144:Or5c1	UTSW	2	37,222,125 (GRCm39)	missense	probably damaging	0.97
R7670:Or5c1	UTSW	2	37,221,771 (GRCm39)	missense	probably benign	0.10
R8049:Or5c1	UTSW	2	37,222,346 (GRCm39)	missense	probably damaging	1.00
R8486:Or5c1	UTSW	2	37,222,662 (GRCm39)	missense	probably damaging	1.00
R8893:Or5c1	UTSW	2	37,222,388 (GRCm39)	missense	probably damaging	1.00
R9147:Or5c1	UTSW	2	37,222,017 (GRCm39)	missense	possibly damaging	0.68
R9148:Or5c1	UTSW	2	37,222,017 (GRCm39)	missense	possibly damaging	0.68
R9401:Or5c1	UTSW	2	37,222,293 (GRCm39)	missense	possibly damaging	0.94
R9574:Or5c1	UTSW	2	37,222,148 (GRCm39)	missense	possibly damaging	0.92
Z1177:Or5c1	UTSW	2	37,222,016 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTTGTCAATGTTACATGAGC -3'
(R):5'- GAGGTCAACCAGCATCTTGG -3'

Sequencing Primer
(F):5'- TTGTCCAGTTAAGACTAGAACCAGG -3'
(R):5'- AGCATCTTGGGGCCAATG -3'

Posted On

2018-05-24