Mutagenetix > Incidental Mutation

Incidental Mutation 'R9726:Or4c108'

731021

Institutional Source

Beutler Lab

Gene Symbol

Or4c108

Ensembl Gene

ENSMUSG00000089751

Gene Name

olfactory receptor family 4 subfamily C member 108

Synonyms

GA_x6K02T2Q125-50452032-50451097, Olfr1213, MOR233-7, Gm13762

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R9726 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88803298-88810611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88804221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 5 (T5S)

Ref Sequence

ENSEMBL: ENSMUSP00000126588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000144908] [ENSMUST00000168169]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000144908
AA Change: T5S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000168169
AA Change: T5S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126588
Gene: ENSMUSG00000075111
AA Change: T5S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	286	1.8e-26	PFAM
Pfam:7tm_4	138	282	3.3e-36	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,325,650 (GRCm39)	V122A	probably damaging	Het
Ago2	T	C	15: 72,998,919 (GRCm39)	Y226C	probably damaging	Het
Akap9	A	G	5: 4,053,757 (GRCm39)	K1574R	probably benign	Het
Apob	T	C	12: 8,056,926 (GRCm39)	Y1803H	probably damaging	Het
Atosb	T	C	4: 43,034,991 (GRCm39)	D302G	probably damaging	Het
Bex6	A	T	16: 32,005,243 (GRCm39)	D17V	probably damaging	Het
Cd72	T	G	4: 43,452,641 (GRCm39)		probably null	Het
Cdcp2	C	A	4: 106,959,936 (GRCm39)	S117Y	probably damaging	Het
Cenpx	A	G	11: 120,603,328 (GRCm39)	L22P	unknown	Het
Cep135	A	G	5: 76,741,151 (GRCm39)	T76A	probably benign	Het
Cps1	A	T	1: 67,195,395 (GRCm39)	Q272L	probably benign	Het
Cul4a	C	T	8: 13,156,208 (GRCm39)	P55S	probably benign	Het
Cyp2f2	C	T	7: 26,821,411 (GRCm39)	T108I	probably damaging	Het
Dapk1	T	C	13: 60,898,948 (GRCm39)	V806A	probably benign	Het
Dgki	T	C	6: 37,276,858 (GRCm39)	H9R	unknown	Het
Dmxl2	A	T	9: 54,322,996 (GRCm39)	S1289T	probably benign	Het
Dock8	T	A	19: 25,154,374 (GRCm39)	V1691D	probably damaging	Het
Dock9	A	C	14: 121,835,149 (GRCm39)	L1280R	possibly damaging	Het
Dync2h1	G	A	9: 7,077,999 (GRCm39)	S2901F	possibly damaging	Het
Fkbp8	A	G	8: 70,987,529 (GRCm39)	K380E	probably damaging	Het
Ggta1	T	C	2: 35,292,422 (GRCm39)	Y295C	probably damaging	Het
Gm7145	A	G	1: 117,913,706 (GRCm39)	N196S	possibly damaging	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Ighv11-1	T	A	12: 113,945,623 (GRCm39)	I77L	probably benign	Het
Kcnmb3	A	G	3: 32,536,512 (GRCm39)	V72A	possibly damaging	Het
Kel	C	T	6: 41,678,971 (GRCm39)	G164D	probably damaging	Het
Krba1	C	A	6: 48,389,298 (GRCm39)	T606N	possibly damaging	Het
Lig3	T	C	11: 82,674,420 (GRCm39)	L82P	possibly damaging	Het
Limd1	T	C	9: 123,308,984 (GRCm39)	S228P	probably benign	Het
Mlf2	C	T	6: 124,911,621 (GRCm39)	R157W	probably benign	Het
Naxe	T	C	3: 87,965,719 (GRCm39)	S27G	probably benign	Het
Oprm1	T	A	10: 6,929,694 (GRCm39)	C345S	probably benign	Het
Or6c210	A	G	10: 129,495,920 (GRCm39)	I82V	possibly damaging	Het
Oscp1	C	A	4: 125,970,626 (GRCm39)	D138E	probably benign	Het
Panx3	T	A	9: 37,572,992 (GRCm39)	Y186F	probably damaging	Het
Pip5kl1	T	C	2: 32,473,391 (GRCm39)	Y343H	probably damaging	Het
Rasgef1b	T	C	5: 99,382,349 (GRCm39)	T214A	probably damaging	Het
Rims1	C	A	1: 22,669,493 (GRCm39)	W105L	probably null	Het
Serpina3f	C	T	12: 104,184,698 (GRCm39)	P281S	probably damaging	Het
Sgsm1	T	C	5: 113,458,418 (GRCm39)	K20R	probably benign	Het
Sigirr	A	G	7: 140,672,123 (GRCm39)	L274P	probably damaging	Het
Slc44a1	T	C	4: 53,491,410 (GRCm39)	V49A	probably benign	Het
Spata31h1	T	C	10: 82,118,605 (GRCm39)	S4802G	unknown	Het
Sstr1	G	A	12: 58,259,484 (GRCm39)	D36N	probably benign	Het
Stab2	T	A	10: 86,790,095 (GRCm39)	D557V	probably benign	Het
Topaz1	GCAGGGGGATGAGAAGGTA	G	9: 122,603,934 (GRCm39)		probably benign	Het
Topaz1	CAGGGGGATGAGAAGGTAAAG	CAG	9: 122,603,935 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,912,752 (GRCm39)	Q101K	unknown	Het
Vmn1r185	T	A	7: 26,310,783 (GRCm39)	I241F	probably damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfy1	A	G	Y: 725,476 (GRCm39)	F763S	possibly damaging	Het

Other mutations in Or4c108

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Or4c108	APN	2	88,803,868 (GRCm39)	nonsense	probably null
IGL02685:Or4c108	APN	2	88,803,365 (GRCm39)	missense	possibly damaging	0.94
R0240:Or4c108	UTSW	2	88,803,740 (GRCm39)	missense	probably damaging	1.00
R0240:Or4c108	UTSW	2	88,803,740 (GRCm39)	missense	probably damaging	1.00
R1446:Or4c108	UTSW	2	88,804,109 (GRCm39)	missense	probably benign	0.00
R1845:Or4c108	UTSW	2	88,803,482 (GRCm39)	missense	probably benign	0.22
R1868:Or4c108	UTSW	2	88,804,128 (GRCm39)	missense	possibly damaging	0.60
R1953:Or4c108	UTSW	2	88,804,224 (GRCm39)	nonsense	probably null
R4205:Or4c108	UTSW	2	88,803,482 (GRCm39)	missense	probably benign	0.22
R4751:Or4c108	UTSW	2	88,803,477 (GRCm39)	missense	probably damaging	1.00
R4895:Or4c108	UTSW	2	88,804,055 (GRCm39)	missense	probably benign	0.39
R4937:Or4c108	UTSW	2	88,803,834 (GRCm39)	missense	probably damaging	1.00
R5621:Or4c108	UTSW	2	88,803,810 (GRCm39)	missense	probably benign	0.00
R5678:Or4c108	UTSW	2	88,803,317 (GRCm39)	nonsense	probably null
R5938:Or4c108	UTSW	2	88,803,357 (GRCm39)	missense	probably benign	0.00
R6021:Or4c108	UTSW	2	88,803,376 (GRCm39)	nonsense	probably null
R6180:Or4c108	UTSW	2	88,804,226 (GRCm39)	missense	probably damaging	1.00
R6724:Or4c108	UTSW	2	88,803,612 (GRCm39)	missense	probably benign	0.02
R6873:Or4c108	UTSW	2	88,803,768 (GRCm39)	missense	probably benign
R6893:Or4c108	UTSW	2	88,804,143 (GRCm39)	missense	probably benign	0.00
R7221:Or4c108	UTSW	2	88,803,497 (GRCm39)	missense	probably damaging	0.99
R7634:Or4c108	UTSW	2	88,804,001 (GRCm39)	missense	probably damaging	1.00
R8233:Or4c108	UTSW	2	88,804,082 (GRCm39)	missense	probably benign
R8262:Or4c108	UTSW	2	88,803,552 (GRCm39)	missense	probably damaging	0.99
R8979:Or4c108	UTSW	2	88,804,173 (GRCm39)	missense	probably benign	0.00
R9136:Or4c108	UTSW	2	88,804,113 (GRCm39)	missense	probably benign	0.00
R9696:Or4c108	UTSW	2	88,803,615 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCCAGAAAGGACAGGCATGC -3'
(R):5'- CTCATTCCATAGAGCAGGAGG -3'

Sequencing Primer
(F):5'- CAGGCATGCCAAGAAGAAGTACATG -3'
(R):5'- CAAGAAGAGTAAATTCTGGTCTTTGG -3'

Posted On

2022-10-06