Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01732:Or3a1c'

105519

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or3a1c

Ensembl Gene

ENSMUSG00000070379

Gene Name

olfactory receptor family 3 subfamily A member 1C

Synonyms

MOR255-4, GA_x6K02T2P1NL-4307199-4308146, Olfr402

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01732

Quality Score

Status

Chromosome

Chromosomal Location

74045982-74046929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74046279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 100 (C100R)

Ref Sequence

ENSEMBL: ENSMUSP00000151050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073675] [ENSMUST00000216722]

AlphaFold

Q8VFX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000073675
AA Change: C100R

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

SMART Domains

Protein: ENSMUSP00000073356
Gene: ENSMUSG00000070379
AA Change: C100R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	9e-53	PFAM
Pfam:7TM_GPCR_Srsx	38	210	2.2e-6	PFAM
Pfam:7tm_1	44	293	9.9e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216722
AA Change: C100R

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

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh4a1	G	T	4: 139,369,471 (GRCm39)	E341*	probably null	Het
Alpk3	A	G	7: 80,707,390 (GRCm39)	R5G	unknown	Het
Arhgef10l	C	T	4: 140,307,726 (GRCm39)	V113M	probably damaging	Het
Brca2	T	A	5: 150,465,852 (GRCm39)	I1872K	probably benign	Het
Cdk17	C	A	10: 93,053,907 (GRCm39)	P134T	probably benign	Het
Cerk	A	G	15: 86,030,517 (GRCm39)	S35P	possibly damaging	Het
Cfap126	T	C	1: 170,954,305 (GRCm39)	V174A	possibly damaging	Het
Cfhr1	T	C	1: 139,478,606 (GRCm39)	T255A	probably benign	Het
Clcn1	A	G	6: 42,287,606 (GRCm39)		probably benign	Het
Copz1	A	G	15: 103,206,318 (GRCm39)	E151G	probably benign	Het
Cubn	G	A	2: 13,494,747 (GRCm39)	Q101*	probably null	Het
Eri1	T	C	8: 35,958,397 (GRCm39)	E12G	possibly damaging	Het
Fut9	A	G	4: 25,619,867 (GRCm39)	F316L	possibly damaging	Het
Garin1a	A	T	6: 29,285,979 (GRCm39)	H146L	probably damaging	Het
Gm973	A	G	1: 59,669,396 (GRCm39)	I816V	probably benign	Het
Itln1	A	G	1: 171,362,348 (GRCm39)	M11T	probably benign	Het
Klc2	C	T	19: 5,159,825 (GRCm39)	R458Q	probably damaging	Het
Lrrc8b	A	T	5: 105,633,826 (GRCm39)	E766V	probably damaging	Het
Mmadhc	A	T	2: 50,171,197 (GRCm39)	I205N	probably damaging	Het
Myo10	A	G	15: 25,732,149 (GRCm39)	I342V	probably benign	Het
Ncapg	T	A	5: 45,851,195 (GRCm39)	V796D	probably damaging	Het
Olfm3	A	C	3: 114,890,649 (GRCm39)	D134A	possibly damaging	Het
Or51t4	T	A	7: 102,598,446 (GRCm39)	I248N	probably damaging	Het
Or56b2	T	C	7: 104,337,543 (GRCm39)	M107T	possibly damaging	Het
Phldb3	A	G	7: 24,326,751 (GRCm39)	E593G	probably damaging	Het
Plcg1	T	A	2: 160,589,699 (GRCm39)	D74E	probably damaging	Het
Plekhm3	T	C	1: 64,961,407 (GRCm39)	D283G	probably benign	Het
Pnpla6	C	A	8: 3,572,616 (GRCm39)	T279N	probably damaging	Het
Prkcq	G	A	2: 11,265,644 (GRCm39)		probably benign	Het
Rbm11	G	A	16: 75,397,510 (GRCm39)	A147T	probably benign	Het
Rnf103	A	G	6: 71,487,366 (GRCm39)	K666E	probably damaging	Het
Selenos	A	G	7: 65,730,137 (GRCm39)	Y45C	probably damaging	Het
Septin11	A	G	5: 93,309,085 (GRCm39)	Y255C	probably damaging	Het
Serpinb3c	T	C	1: 107,199,702 (GRCm39)	H273R	probably benign	Het
Slc35f2	A	G	9: 53,713,909 (GRCm39)	D141G	probably damaging	Het
Sntg2	A	T	12: 30,362,648 (GRCm39)	Y33N	probably damaging	Het
Snx19	C	A	9: 30,373,649 (GRCm39)	T904K	probably damaging	Het
Tenm4	A	G	7: 96,544,716 (GRCm39)	Y2244C	probably damaging	Het
Tescl	A	G	7: 24,032,872 (GRCm39)	V151A	probably damaging	Het
Tnrc18	C	T	5: 142,757,816 (GRCm39)	V902M	unknown	Het
Trmt13	A	G	3: 116,375,113 (GRCm39)	L465S	probably damaging	Het
Ube2j2	T	G	4: 156,041,788 (GRCm39)	V249G	probably damaging	Het
Zan	T	C	5: 137,391,273 (GRCm39)	K4737R	unknown	Het
Zc3h6	T	C	2: 128,853,795 (GRCm39)	I430T	probably damaging	Het
Zfp750	G	A	11: 121,403,819 (GRCm39)	S352L	probably benign	Het
Zfp819	A	G	7: 43,265,846 (GRCm39)	K34E	probably benign	Het

Other mutations in Or3a1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03085:Or3a1c	APN	11	74,046,511 (GRCm39)	missense	probably damaging	1.00
IGL03192:Or3a1c	APN	11	74,046,076 (GRCm39)	missense	probably benign	0.13
IGL03230:Or3a1c	APN	11	74,046,099 (GRCm39)	missense	probably benign
R1478:Or3a1c	UTSW	11	74,045,963 (GRCm39)	splice site	probably null
R1573:Or3a1c	UTSW	11	74,046,196 (GRCm39)	missense	probably benign	0.11
R1728:Or3a1c	UTSW	11	74,046,802 (GRCm39)	missense	probably damaging	0.99
R1912:Or3a1c	UTSW	11	74,046,711 (GRCm39)	missense	probably damaging	1.00
R2030:Or3a1c	UTSW	11	74,046,769 (GRCm39)	missense	possibly damaging	0.94
R3151:Or3a1c	UTSW	11	74,046,466 (GRCm39)	missense	probably damaging	0.99
R4428:Or3a1c	UTSW	11	74,046,025 (GRCm39)	missense	probably damaging	1.00
R4796:Or3a1c	UTSW	11	74,046,417 (GRCm39)	missense	probably benign	0.02
R4974:Or3a1c	UTSW	11	74,046,745 (GRCm39)	missense	probably benign	0.42
R4996:Or3a1c	UTSW	11	74,046,157 (GRCm39)	missense	probably damaging	1.00
R5308:Or3a1c	UTSW	11	74,046,397 (GRCm39)	missense	probably damaging	0.99
R5912:Or3a1c	UTSW	11	74,046,046 (GRCm39)	missense	possibly damaging	0.64
R6083:Or3a1c	UTSW	11	74,046,396 (GRCm39)	missense	possibly damaging	0.92
R7131:Or3a1c	UTSW	11	74,046,606 (GRCm39)	missense	probably benign	0.02
R7460:Or3a1c	UTSW	11	74,046,672 (GRCm39)	missense	probably damaging	0.99
R7540:Or3a1c	UTSW	11	74,046,414 (GRCm39)	missense	probably benign	0.00
R7795:Or3a1c	UTSW	11	74,046,844 (GRCm39)	missense	probably damaging	1.00
R8550:Or3a1c	UTSW	11	74,046,015 (GRCm39)	missense	probably benign

Posted On

2014-01-21