Mutagenetix > Incidental Mutation

Incidental Mutation 'R6279:Or4c105'

507815

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

044449-MU

Accession Numbers

Essential gene?

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

Stock #

R6279 (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 88647719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 68 (D68V)

Ref Sequence

ENSEMBL: ENSMUSP00000150743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072057] [ENSMUST00000214703] [ENSMUST00000217059]

AlphaFold

Q8VF98

Predicted Effect

probably damaging
Transcript: ENSMUST00000072057
AA Change: D68V

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

SMART Domains

Protein: ENSMUSP00000071935
Gene: ENSMUSG00000064084
AA Change: D68V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214703
AA Change: D68V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217059
AA Change: D68V

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Arid1b	C	A	17: 5,392,274 (GRCm39)	L1935M	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Cyp2d22	C	A	15: 82,258,169 (GRCm39)	K150N	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Faap24	A	C	7: 35,095,709 (GRCm39)	V12G	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Ggta1	A	G	2: 35,298,006 (GRCm39)	Y148H	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il12a	A	T	3: 68,605,312 (GRCm39)	I193F	probably damaging	Het
Il2rb	T	C	15: 78,365,738 (GRCm39)	N520D	possibly damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Lrba	A	G	3: 86,256,171 (GRCm39)	D1171G	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Msh6	T	C	17: 88,287,677 (GRCm39)	W106R	probably damaging	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or10w3	A	G	19: 13,704,029 (GRCm39)	I135V	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pde10a	T	C	17: 9,197,789 (GRCm39)	I1026T	probably damaging	Het
Pde4dip	A	C	3: 97,606,496 (GRCm39)	L2126R	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pkmyt1	C	T	17: 23,951,476 (GRCm39)	P10L	probably benign	Het
Pphln1-ps1	T	C	16: 13,495,134 (GRCm39)	S78P	probably damaging	Het
Prr5l	A	T	2: 101,547,765 (GRCm39)	Y253*	probably null	Het
Rdh9	A	G	10: 127,612,627 (GRCm39)	T92A	probably benign	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr1	A	T	7: 28,786,853 (GRCm39)	M1587K	possibly damaging	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Sh3d19	A	T	3: 86,011,409 (GRCm39)	I332F	possibly damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Slk	A	G	19: 47,630,443 (GRCm39)	T1205A	probably damaging	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Tnpo1	G	A	13: 99,027,216 (GRCm39)	P25L	possibly damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Tshz1	A	T	18: 84,033,436 (GRCm39)	V324D	probably damaging	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably damaging	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
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
R8172:Or4c105	UTSW	2	88,647,986 (GRCm39)	missense	probably damaging	1.00
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'- GACCGAGTTTGTTCTCCTGG -3'
(R):5'- CACTCCCACTAGGATGTTACAGAG -3'

Sequencing Primer
(F):5'- TGGGGCTCACACAGAATCTG -3'
(R):5'- CCCACTAGGATGTTACAGAGTTGTC -3'

Posted On

2018-03-15