Mutagenetix > Incidental Mutation

Incidental Mutation 'R1501:Or4c102'

169240

Institutional Source

Beutler Lab

Gene Symbol

Or4c102

Ensembl Gene

ENSMUSG00000068808

Gene Name

olfactory receptor family 4 subfamily C member 102

Synonyms

GA_x6K02T2Q125-50079044-50079964, Olfr1189, MOR237-2

MMRRC Submission

040867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88422150-88423070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88422492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 115 (V115I)

Ref Sequence

ENSEMBL: ENSMUSP00000149696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090700] [ENSMUST00000213679]

AlphaFold

A2AV11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090700
AA Change: V115I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088201
Gene: ENSMUSG00000068808
AA Change: V115I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	9.6e-42	PFAM
Pfam:7tm_1	39	285	4.4e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213679
AA Change: V115I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,750,787 (GRCm39)	S533R	probably benign	Het
Amph	C	T	13: 19,288,461 (GRCm39)	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279 (GRCm39)	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,703,137 (GRCm39)	C845R	probably damaging	Het
Calml4	A	G	9: 62,778,622 (GRCm39)	K12E	probably benign	Het
Chrd	C	T	16: 20,556,283 (GRCm39)	R615W	probably damaging	Het
Chst15	T	A	7: 131,870,798 (GRCm39)	K246*	probably null	Het
Cmtr2	G	A	8: 110,948,235 (GRCm39)	D182N	probably benign	Het
Cyp2d9	C	A	15: 82,338,525 (GRCm39)	C186*	probably null	Het
Cyp3a13	G	T	5: 137,909,892 (GRCm39)		probably null	Het
Dcaf17	A	T	2: 70,912,332 (GRCm39)	I320F	probably damaging	Het
Ddx10	T	C	9: 53,145,297 (GRCm39)	I227V	possibly damaging	Het
Dlc1	G	T	8: 37,405,302 (GRCm39)	N162K	probably benign	Het
Dnhd1	G	A	7: 105,317,670 (GRCm39)	R455H	probably benign	Het
Drg2	G	T	11: 60,355,679 (GRCm39)	A306S	probably benign	Het
Dsg1a	A	T	18: 20,465,076 (GRCm39)	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,766,452 (GRCm39)	V353A	probably damaging	Het
Emilin2	T	C	17: 71,617,756 (GRCm39)	S34G	probably benign	Het
Enpp2	C	A	15: 54,702,910 (GRCm39)	W862L	probably damaging	Het
Exoc2	T	C	13: 31,119,485 (GRCm39)	I139V	probably benign	Het
Fhad1	C	T	4: 141,691,936 (GRCm39)	R400H	probably benign	Het
Fv1	C	T	4: 147,954,595 (GRCm39)	T387M	probably damaging	Het
Gatad1	T	A	5: 3,693,701 (GRCm39)	D156V	probably damaging	Het
Gm4744	A	G	6: 40,927,367 (GRCm39)		probably benign	Het
Gm4799	G	A	10: 82,790,469 (GRCm39)		noncoding transcript	Het
Hadha	A	G	5: 30,333,804 (GRCm39)	F405S	probably benign	Het
Ifit3	T	C	19: 34,565,651 (GRCm39)	V399A	probably benign	Het
Il1rapl1	G	T	X: 86,348,469 (GRCm39)	Y150*	probably null	Het
Kirrel1	T	C	3: 86,997,779 (GRCm39)	E248G	probably benign	Het
Krt72	C	A	15: 101,686,769 (GRCm39)	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,444,528 (GRCm39)	G309D	probably damaging	Het
Mc3r	T	G	2: 172,091,300 (GRCm39)	I174S	probably benign	Het
Me3	A	G	7: 89,282,273 (GRCm39)	D52G	probably benign	Het
Med12l	T	C	3: 59,168,256 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,325,378 (GRCm39)		probably null	Het
Mphosph10	A	T	7: 64,039,252 (GRCm39)	F239L	probably damaging	Het
Mrps7	T	C	11: 115,495,023 (GRCm39)	S13P	probably benign	Het
Nexn	T	C	3: 151,943,323 (GRCm39)	T527A	possibly damaging	Het
Nlrp1b	G	A	11: 71,046,885 (GRCm39)	H1156Y	probably damaging	Het
Nostrin	A	G	2: 68,989,129 (GRCm39)	E120G	probably damaging	Het
Nsun2	A	G	13: 69,779,706 (GRCm39)	E624G	probably damaging	Het
Oga	T	C	19: 45,767,079 (GRCm39)	D99G	probably null	Het
Or4k2	A	G	14: 50,424,539 (GRCm39)	I45T	probably damaging	Het
Or52n4b	G	A	7: 108,143,782 (GRCm39)	V15I	probably benign	Het
Or5p70	A	C	7: 107,995,289 (GRCm39)	K321Q	probably benign	Het
Phldb2	T	C	16: 45,598,146 (GRCm39)	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,789,796 (GRCm39)		probably null	Het
Pikfyve	T	A	1: 65,304,443 (GRCm39)	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,803,087 (GRCm39)	F393L	probably benign	Het
Plekhg1	C	A	10: 3,907,361 (GRCm39)	D759E	probably benign	Het
Plekhm1	A	G	11: 103,277,888 (GRCm39)	S403P	probably benign	Het
Pop1	T	C	15: 34,510,503 (GRCm39)	F432L	probably benign	Het
Ptpn13	T	C	5: 103,664,230 (GRCm39)	I406T	probably benign	Het
Ptpn5	G	T	7: 46,739,623 (GRCm39)	D185E	probably benign	Het
Rad50	G	T	11: 53,578,978 (GRCm39)	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,530,507 (GRCm39)	F613L	probably benign	Het
Sec16a	T	A	2: 26,330,057 (GRCm39)	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,712,920 (GRCm39)		probably null	Het
Slc22a3	G	A	17: 12,725,991 (GRCm39)	T74I	probably benign	Het
Slc23a4	A	G	6: 34,932,057 (GRCm39)	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,857,536 (GRCm39)	D869G	possibly damaging	Het
Slc5a11	T	A	7: 122,859,731 (GRCm39)	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,832,167 (GRCm39)	A470S	probably benign	Het
Slfn8	A	G	11: 82,894,006 (GRCm39)	S878P	probably damaging	Het
Smchd1	A	G	17: 71,672,089 (GRCm39)	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,220,437 (GRCm39)	L179P	probably damaging	Het
Tbx2	A	G	11: 85,725,622 (GRCm39)	D191G	probably damaging	Het
Tenm3	A	G	8: 48,796,351 (GRCm39)	Y485H	probably damaging	Het
Trim12c	T	A	7: 103,990,095 (GRCm39)		probably benign	Het
Trpc6	A	G	9: 8,610,170 (GRCm39)	T213A	probably damaging	Het
Upp1	T	A	11: 9,084,708 (GRCm39)		probably null	Het
Vmn1r46	A	T	6: 89,953,198 (GRCm39)	I16L	probably benign	Het
Vmn2r75	A	T	7: 85,814,850 (GRCm39)	D214E	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,118 (GRCm39)	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,582,521 (GRCm39)	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399 (GRCm39)	K232N	possibly damaging	Het
Zfp280b	T	C	10: 75,875,603 (GRCm39)	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,066,143 (GRCm39)	D38G	probably damaging	Het

Other mutations in Or4c102

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02306:Or4c102	APN	2	88,422,950 (GRCm39)	missense	probably benign	0.22
R0115:Or4c102	UTSW	2	88,422,999 (GRCm39)	missense	probably damaging	1.00
R0481:Or4c102	UTSW	2	88,422,999 (GRCm39)	missense	probably damaging	1.00
R0565:Or4c102	UTSW	2	88,422,353 (GRCm39)	missense	probably benign	0.39
R1106:Or4c102	UTSW	2	88,422,355 (GRCm39)	missense	probably benign	0.01
R1616:Or4c102	UTSW	2	88,422,352 (GRCm39)	missense	probably damaging	0.99
R1763:Or4c102	UTSW	2	88,422,780 (GRCm39)	missense	probably benign	0.02
R1847:Or4c102	UTSW	2	88,422,516 (GRCm39)	missense	probably damaging	1.00
R1989:Or4c102	UTSW	2	88,422,943 (GRCm39)	missense	probably damaging	0.99
R3436:Or4c102	UTSW	2	88,422,448 (GRCm39)	missense	probably damaging	1.00
R3500:Or4c102	UTSW	2	88,422,285 (GRCm39)	missense	probably damaging	1.00
R4410:Or4c102	UTSW	2	88,422,765 (GRCm39)	missense	probably benign	0.03
R4463:Or4c102	UTSW	2	88,422,976 (GRCm39)	missense	possibly damaging	0.77
R5005:Or4c102	UTSW	2	88,422,348 (GRCm39)	missense	probably benign	0.00
R5174:Or4c102	UTSW	2	88,422,992 (GRCm39)	missense	probably damaging	1.00
R5557:Or4c102	UTSW	2	88,422,897 (GRCm39)	missense	probably damaging	1.00
R6354:Or4c102	UTSW	2	88,422,478 (GRCm39)	missense	probably damaging	1.00
R6850:Or4c102	UTSW	2	88,422,650 (GRCm39)	nonsense	probably null
R7522:Or4c102	UTSW	2	88,423,005 (GRCm39)	missense	possibly damaging	0.94
R7837:Or4c102	UTSW	2	88,422,723 (GRCm39)	missense	possibly damaging	0.80
R8252:Or4c102	UTSW	2	88,423,011 (GRCm39)	missense	probably damaging	1.00
R8345:Or4c102	UTSW	2	88,422,435 (GRCm39)	missense	probably benign	0.10
R9346:Or4c102	UTSW	2	88,423,062 (GRCm39)	missense	probably benign
R9425:Or4c102	UTSW	2	88,422,877 (GRCm39)	missense	probably damaging	0.99
R9632:Or4c102	UTSW	2	88,423,057 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TAACCAGAAGCCCTAGTCTGAGGTCAC -3'
(R):5'- CACCCCACTGTTCAGAATGACTAAGAG -3'

Sequencing Primer
(F):5'- GAGGTCACCCATGTACTTCTTCC -3'
(R):5'- ATGTGTATCCATGCAGGCCAG -3'

Posted On

2014-04-13