Mutagenetix > Incidental Mutation

Incidental Mutation 'R8172:Or4c105'

634177

Institutional Source

Beutler Lab

Gene Symbol

Or4c105

Ensembl Gene

ENSMUSG00000064084

Gene Name

olfactory receptor family 4 subfamily C member 105

Synonyms

Olfr1202, GA_x6K02T2Q125-50290367-50291296, MOR232-7

MMRRC Submission

067598-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88643145-88648446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88647986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 157 (Q157L)

Ref Sequence

ENSEMBL: ENSMUSP00000071935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072057]

AlphaFold

Q8VF98

Predicted Effect

probably damaging
Transcript: ENSMUST00000072057
AA Change: Q157L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071935
Gene: ENSMUSG00000064084
AA Change: Q157L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	6.8e-47	PFAM
Pfam:7tm_1	39	285	1.2e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	A	16: 34,977,427 (GRCm39)	L320Q	probably damaging	Het
Adgre4	A	T	17: 56,104,769 (GRCm39)	L278F	probably benign	Het
Agfg2	C	A	5: 137,665,431 (GRCm39)	R108L	probably damaging	Het
Arap2	A	T	5: 62,779,324 (GRCm39)		probably null	Het
Ascl2	G	T	7: 142,522,336 (GRCm39)	N37K	possibly damaging	Het
Baiap3	C	A	17: 25,463,096 (GRCm39)	D1043Y	probably damaging	Het
Cby2	T	A	14: 75,829,241 (GRCm39)		probably null	Het
Ccdc18	T	C	5: 108,311,640 (GRCm39)		probably null	Het
Cemip	T	A	7: 83,646,433 (GRCm39)	D205V	probably damaging	Het
Cenpn	G	A	8: 117,658,333 (GRCm39)	G93D	probably benign	Het
Clpsl2	T	A	17: 28,768,556 (GRCm39)	S23R	possibly damaging	Het
Cnot3	T	A	7: 3,661,724 (GRCm39)	I672N	possibly damaging	Het
Crygs	A	G	16: 22,625,292 (GRCm39)	Y50H	probably damaging	Het
Cyp4x1	T	C	4: 114,968,874 (GRCm39)	T403A	possibly damaging	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Fam184b	C	T	5: 45,741,709 (GRCm39)	G174D	possibly damaging	Het
Fat2	T	A	11: 55,178,638 (GRCm39)	D1474V	probably damaging	Het
Flg2	T	A	3: 93,108,468 (GRCm39)	D165E	possibly damaging	Het
Fpr-rs7	A	T	17: 20,334,443 (GRCm39)	F16I	probably benign	Het
Gpr176	G	A	2: 118,114,615 (GRCm39)	T65I	probably damaging	Het
H2-Q10	C	T	17: 35,781,996 (GRCm39)	T206I	probably null	Het
Hadha	C	G	5: 30,350,285 (GRCm39)	A88P	probably damaging	Het
Hlcs	A	T	16: 94,068,485 (GRCm39)	L245Q	probably damaging	Het
Hnrnph1	T	C	11: 50,270,732 (GRCm39)	V113A	probably damaging	Het
Hsd3b7	G	A	7: 127,401,546 (GRCm39)	V224M	probably damaging	Het
Igha	T	C	12: 113,223,592 (GRCm39)	D88G		Het
Iqca1l	T	C	5: 24,748,608 (GRCm39)	M803V	probably benign	Het
Kdm7a	T	C	6: 39,125,965 (GRCm39)	K610R	probably benign	Het
Krt87	C	T	15: 101,383,284 (GRCm39)	C474Y	probably benign	Het
Lrrc74a	T	A	12: 86,788,530 (GRCm39)	L170H	probably damaging	Het
Lyg2	T	C	1: 37,946,748 (GRCm39)	T178A	probably benign	Het
Map2k2	T	A	10: 80,959,442 (GRCm39)		probably null	Het
Mast4	C	T	13: 103,089,633 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,216,529 (GRCm39)	D8E	probably benign	Het
Neu2	C	T	1: 87,524,633 (GRCm39)	P206L	probably damaging	Het
Oga	C	T	19: 45,765,339 (GRCm39)	R156H	probably damaging	Het
Or10al6	A	G	17: 38,083,326 (GRCm39)	T261A	probably benign	Het
Poc1b	C	A	10: 98,980,338 (GRCm39)		probably null	Het
Proser1	T	A	3: 53,386,272 (GRCm39)	V718E	possibly damaging	Het
Ptgr2	T	A	12: 84,360,783 (GRCm39)	L351Q	possibly damaging	Het
Ptprf	A	G	4: 118,068,275 (GRCm39)	Y1754H	probably benign	Het
Scgb2b3	T	C	7: 31,058,476 (GRCm39)	K109R	possibly damaging	Het
Scn2a	A	T	2: 65,520,672 (GRCm39)	H556L	probably benign	Het
Scn7a	A	T	2: 66,506,191 (GRCm39)	M1566K	possibly damaging	Het
Slco5a1	A	T	1: 13,060,490 (GRCm39)	L77*	probably null	Het
Stk31	T	C	6: 49,394,261 (GRCm39)	F208L	possibly damaging	Het
Tbcd	C	T	11: 121,384,711 (GRCm39)	T315M	probably benign	Het
Tbx4	A	G	11: 85,801,933 (GRCm39)	I189V	probably benign	Het
Tia1	T	A	6: 86,404,682 (GRCm39)	Y306N	probably benign	Het
Ttc21b	T	A	2: 66,082,500 (GRCm39)	Y33F	probably benign	Het
Usp47	T	A	7: 111,687,133 (GRCm39)	L677*	probably null	Het

Other mutations in Or4c105

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03221:Or4c105	APN	2	88,647,781 (GRCm39)	missense	possibly damaging	0.54
R0105:Or4c105	UTSW	2	88,648,253 (GRCm39)	missense	probably damaging	1.00
R0699:Or4c105	UTSW	2	88,647,568 (GRCm39)	missense	probably damaging	1.00
R0709:Or4c105	UTSW	2	88,648,226 (GRCm39)	missense	probably benign	0.42
R1177:Or4c105	UTSW	2	88,647,704 (GRCm39)	missense	probably benign	0.06
R1436:Or4c105	UTSW	2	88,648,336 (GRCm39)	missense	possibly damaging	0.48
R1827:Or4c105	UTSW	2	88,648,402 (GRCm39)	missense	probably benign	0.04
R1828:Or4c105	UTSW	2	88,648,402 (GRCm39)	missense	probably benign	0.04
R1872:Or4c105	UTSW	2	88,648,280 (GRCm39)	missense	probably benign	0.02
R1878:Or4c105	UTSW	2	88,647,805 (GRCm39)	missense	probably benign	0.00
R4903:Or4c105	UTSW	2	88,648,342 (GRCm39)	missense	probably benign	0.14
R5035:Or4c105	UTSW	2	88,648,443 (GRCm39)	missense	probably benign	0.01
R6279:Or4c105	UTSW	2	88,647,719 (GRCm39)	missense	probably damaging	1.00
R7402:Or4c105	UTSW	2	88,647,687 (GRCm39)	missense	probably damaging	1.00
R7809:Or4c105	UTSW	2	88,647,902 (GRCm39)	missense	probably damaging	0.96
R8193:Or4c105	UTSW	2	88,647,803 (GRCm39)	missense	probably damaging	1.00
R8673:Or4c105	UTSW	2	88,647,590 (GRCm39)	missense	probably benign
R8730:Or4c105	UTSW	2	88,648,043 (GRCm39)	missense	possibly damaging	0.64
R9459:Or4c105	UTSW	2	88,647,967 (GRCm39)	missense	probably benign	0.12
R9772:Or4c105	UTSW	2	88,647,958 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTCAATGGATGCATGACCCAAG -3'
(R):5'- CCTTAGGGAGTTAAGAATGACCAG -3'

Sequencing Primer
(F):5'- GCATGACCCAAGTTTTTGCAG -3'
(R):5'- TTAAGAATGACCAGGTAGGAGAC -3'

Posted On

2020-07-13