Mutagenetix > Incidental Mutation

Incidental Mutation 'R4895:Or4c108'

377544

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

042499-MU

Accession Numbers

Essential gene?

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

Stock #

R4895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88803298-88810611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88804055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 60 (F60Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099806] [ENSMUST00000144908] [ENSMUST00000168169]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099806
AA Change: F60Y

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097394
Gene: ENSMUSG00000101480
AA Change: F60Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.5e-47	PFAM
Pfam:7tm_1	39	286	3.2e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131574

Predicted Effect

probably benign
Transcript: ENSMUST00000144908
AA Change: F60Y

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000168169
AA Change: F60Y

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126588
Gene: ENSMUSG00000075111
AA Change: F60Y

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

Meta Mutation Damage Score

0.1126

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,454,990 (GRCm39)		probably benign	Het
Abat	G	A	16: 8,433,826 (GRCm39)	A392T	probably benign	Het
Abca14	G	A	7: 119,846,572 (GRCm39)		probably null	Het
Abcc6	A	T	7: 45,630,414 (GRCm39)	L1282Q	possibly damaging	Het
Acss2	A	G	2: 155,392,401 (GRCm39)		probably benign	Het
Adgrf1	G	T	17: 43,621,511 (GRCm39)	V583L	probably benign	Het
Aftph	T	C	11: 20,646,801 (GRCm39)	D825G	probably damaging	Het
Ahnak	T	C	19: 8,994,805 (GRCm39)	V5363A	probably benign	Het
Apba3	G	A	10: 81,107,117 (GRCm39)		probably null	Het
Asb13	T	C	13: 3,693,589 (GRCm39)	Y116H	probably damaging	Het
Asb4	C	A	6: 5,398,266 (GRCm39)	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,256,289 (GRCm39)	H223Q	probably benign	Het
Best1	A	G	19: 9,970,135 (GRCm39)	L159P	probably benign	Het
Cacna1h	A	T	17: 25,608,396 (GRCm39)	M731K	probably damaging	Het
Catspere1	T	A	1: 177,687,427 (GRCm39)		noncoding transcript	Het
Cenpv	A	T	11: 62,418,346 (GRCm39)	Y202*	probably null	Het
Cep57	A	T	9: 13,727,449 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,084 (GRCm39)	D363V	possibly damaging	Het
Cluh	A	G	11: 74,558,231 (GRCm39)	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,551,347 (GRCm39)		probably null	Het
Dnajc11	T	C	4: 152,064,390 (GRCm39)	F514L	probably damaging	Het
Efcab3	C	T	11: 104,611,112 (GRCm39)	T318I	probably benign	Het
Efcab3	T	A	11: 105,008,227 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,640,496 (GRCm39)	D1026G	probably damaging	Het
Eif2b4	T	G	5: 31,350,298 (GRCm39)	Q8P	probably benign	Het
Epha6	A	T	16: 59,486,918 (GRCm39)	V1043E	probably benign	Het
Gm11562	G	T	11: 99,511,141 (GRCm39)	Q20K	unknown	Het
Gm14415	A	T	2: 176,796,114 (GRCm39)		noncoding transcript	Het
Gm5431	A	G	11: 48,779,855 (GRCm39)	S634P	probably damaging	Het
Gpld1	C	A	13: 25,163,711 (GRCm39)	N501K	probably damaging	Het
Gsn	C	T	2: 35,192,590 (GRCm39)	R513C	probably damaging	Het
Gulp1	T	C	1: 44,827,757 (GRCm39)	F300L	probably benign	Het
H2aj	T	C	6: 136,785,660 (GRCm39)	V108A	possibly damaging	Het
Haus3	T	C	5: 34,325,414 (GRCm39)	R82G	probably benign	Het
Herc2	G	A	7: 55,872,734 (GRCm39)	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,553,130 (GRCm39)	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,171,014 (GRCm39)	I53V	probably benign	Het
Inpp5e	C	T	2: 26,287,924 (GRCm39)	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367 (GRCm39)	C491*	probably null	Het
Itpkb	C	A	1: 180,241,460 (GRCm39)	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,905,784 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,742,368 (GRCm39)		probably benign	Het
Lamb3	C	T	1: 193,014,622 (GRCm39)	R594*	probably null	Het
Map3k20	A	G	2: 72,232,700 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,624,472 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,231,752 (GRCm39)	T651A	probably benign	Het
Nbeal1	A	G	1: 60,332,062 (GRCm39)	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,397,618 (GRCm39)	Y61H	probably damaging	Het
Npat	T	A	9: 53,481,789 (GRCm39)	L1166M	probably damaging	Het
Or12e1	A	C	2: 87,022,192 (GRCm39)	I54L	probably benign	Het
Or5ak20	A	T	2: 85,183,341 (GRCm39)	*310K	probably null	Het
Or5b97	C	T	19: 12,878,251 (GRCm39)	V298M	probably damaging	Het
Or5h22	C	T	16: 58,895,020 (GRCm39)	C141Y	probably benign	Het
Or5p66	A	C	7: 107,885,802 (GRCm39)	I177S	probably damaging	Het
Pcdhb3	T	C	18: 37,434,759 (GRCm39)	F242L	probably damaging	Het
Phip	A	G	9: 82,841,648 (GRCm39)	V57A	probably benign	Het
Plekha7	A	T	7: 115,788,626 (GRCm39)		probably null	Het
Pot1a	A	C	6: 25,753,205 (GRCm39)	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,831,126 (GRCm39)	P217L	probably damaging	Het
Prepl	A	G	17: 85,388,494 (GRCm39)	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,759,513 (GRCm39)	I175V	probably benign	Het
Ranbp6	A	T	19: 29,787,175 (GRCm39)	I1059N	possibly damaging	Het
Rhag	A	G	17: 41,122,242 (GRCm39)	Q59R	probably benign	Het
Sema4c	A	C	1: 36,592,651 (GRCm39)		probably null	Het
Sf3b3	T	C	8: 111,542,656 (GRCm39)	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,019,220 (GRCm39)		probably null	Het
Tbrg1	A	T	9: 37,566,375 (GRCm39)	I54N	probably damaging	Het
Tchh	A	T	3: 93,352,993 (GRCm39)	E811V	unknown	Het
Tenm3	T	A	8: 48,754,006 (GRCm39)	D799V	probably damaging	Het
Tlr5	T	C	1: 182,801,764 (GRCm39)	L342P	probably damaging	Het
Tppp	C	T	13: 74,178,996 (GRCm39)	R146*	probably null	Het
Trpm4	A	T	7: 44,967,482 (GRCm39)	M574K	probably damaging	Het
Uggt1	A	T	1: 36,195,345 (GRCm39)	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,256,298 (GRCm39)	K1124N	probably damaging	Het
Usf3	A	C	16: 44,041,459 (GRCm39)	S1980R	possibly damaging	Het
Vav2	T	C	2: 27,208,973 (GRCm39)	D100G	probably damaging	Het
Vmn2r3	G	T	3: 64,167,182 (GRCm39)	H650N	probably benign	Het
Vmn2r59	T	A	7: 41,695,218 (GRCm39)	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,187,396 (GRCm39)	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,910,892 (GRCm39)	R235*	probably null	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
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
R9726:Or4c108	UTSW	2	88,804,221 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGCCTCCTGTTCATAATGG -3'
(R):5'- CAGACCCTTGTCACTGAGTTC -3'

Sequencing Primer
(F):5'- GCCTCCTGTTCATAATGGAAGAG -3'
(R):5'- ACTGAGTTCTTACTTCTGGGAC -3'

Posted On

2016-03-17