Mutagenetix > Incidental Mutation

Incidental Mutation 'R7837:Or4c102'

606029

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

045891-MU

Accession Numbers

Essential gene?

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

Stock #

R7837 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88422150-88423070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88422723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 192 (I192F)

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: I192F

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088201
Gene: ENSMUSG00000068808
AA Change: I192F

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: I192F

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,547 (GRCm39)	S108P	probably damaging	Het
Acox3	A	G	5: 35,768,830 (GRCm39)		probably null	Het
Adam22	T	A	5: 8,199,284 (GRCm39)		probably null	Het
Adgrb3	T	C	1: 25,167,915 (GRCm39)	Y1007C	probably damaging	Het
Anapc4	T	A	5: 53,016,550 (GRCm39)		probably null	Het
Aoc1	T	A	6: 48,882,584 (GRCm39)	Y153*	probably null	Het
Armc1	A	T	3: 19,198,633 (GRCm39)	I109N	probably benign	Het
Bcl2	A	C	1: 106,471,086 (GRCm39)	F207V	possibly damaging	Het
Btd	C	A	14: 31,388,784 (GRCm39)	S168R	possibly damaging	Het
Cage1	A	T	13: 38,206,381 (GRCm39)	M488K	not run	Het
Cemip2	T	A	19: 21,775,385 (GRCm39)	D209E	probably benign	Het
Cenpj	T	C	14: 56,796,185 (GRCm39)	N224S	probably benign	Het
Cln6	T	C	9: 62,756,330 (GRCm39)	V81A		Het
Crispld1	T	A	1: 17,798,954 (GRCm39)	V25E	probably benign	Het
Dnah12	A	G	14: 26,518,176 (GRCm39)	T1808A	probably benign	Het
Dnm3	C	T	1: 161,819,619 (GRCm39)	R851H	possibly damaging	Het
Dtx3l	T	A	16: 35,751,896 (GRCm39)	N675I	probably damaging	Het
Dusp28	A	G	1: 92,835,405 (GRCm39)	E163G	probably benign	Het
Ecd	A	T	14: 20,383,400 (GRCm39)	F346L	probably damaging	Het
F5	G	A	1: 164,014,363 (GRCm39)	V545M	probably damaging	Het
Gm19410	A	T	8: 36,276,134 (GRCm39)	Y1597F	possibly damaging	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gria2	A	T	3: 80,618,095 (GRCm39)	N313K	probably benign	Het
Igkv13-84	C	T	6: 68,916,793 (GRCm39)	S30F	possibly damaging	Het
Kcnh6	C	A	11: 105,924,636 (GRCm39)	H867N	probably benign	Het
Krt82	T	C	15: 101,456,792 (GRCm39)	Q196R	possibly damaging	Het
Mbd4	T	C	6: 115,826,500 (GRCm39)	N164D	probably benign	Het
Mrgpra1	A	T	7: 46,985,076 (GRCm39)	M201K	possibly damaging	Het
Msh6	G	A	17: 88,292,094 (GRCm39)	G283E	probably damaging	Het
Msr1	C	T	8: 40,034,873 (GRCm39)	C426Y	probably damaging	Het
Muc5ac	A	G	7: 141,369,700 (GRCm39)	H3149R	possibly damaging	Het
Nr1i2	T	C	16: 38,074,146 (GRCm39)	M156V	probably benign	Het
Ogdhl	T	C	14: 32,068,415 (GRCm39)	V884A	possibly damaging	Het
Or13a21	T	C	7: 139,999,234 (GRCm39)	I151V	probably benign	Het
Or4k15b	T	A	14: 50,272,033 (GRCm39)	T276S	probably damaging	Het
Or51ag1	A	T	7: 103,156,052 (GRCm39)	C34S	possibly damaging	Het
Pakap	A	G	4: 57,855,262 (GRCm39)	D197G	probably damaging	Het
Pcnx4	C	A	12: 72,602,892 (GRCm39)	L385M	probably damaging	Het
Pgap4	A	T	4: 49,586,262 (GRCm39)	M302K	probably damaging	Het
Plscr4	T	A	9: 92,366,976 (GRCm39)	C197S	probably damaging	Het
Rin3	A	G	12: 102,335,024 (GRCm39)	T312A	unknown	Het
Septin7	T	A	9: 25,199,531 (GRCm39)	N143K	possibly damaging	Het
Sgk2	A	G	2: 162,845,216 (GRCm39)	K208E	probably damaging	Het
Slc4a5	A	T	6: 83,238,539 (GRCm39)	T236S	probably benign	Het
Sptbn1	A	G	11: 30,088,832 (GRCm39)	L810P	probably damaging	Het
Stard9	A	G	2: 120,534,146 (GRCm39)	S3468G	probably benign	Het
Tarbp1	T	C	8: 127,201,300 (GRCm39)	S169G	probably benign	Het
Tex56	A	T	13: 35,128,359 (GRCm39)	Q192L	possibly damaging	Het
Tssk2	T	C	16: 17,716,615 (GRCm39)	V6A	possibly damaging	Het
Ttll4	A	T	1: 74,720,916 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,120,462 (GRCm39)	R296*	probably null	Het
Wscd2	G	T	5: 113,710,394 (GRCm39)	C306F	probably damaging	Het
Zbtb43	C	T	2: 33,343,981 (GRCm39)	G378R	probably damaging	Het
Zdhhc12	A	T	2: 29,981,709 (GRCm39)	V165E	probably damaging	Het
Zfp59	GAAA	GAAAAA	7: 27,554,342 (GRCm39)		probably null	Het
Zfp943	A	T	17: 22,211,346 (GRCm39)	Y144F	probably benign	Het
Zkscan8	T	A	13: 21,704,598 (GRCm39)	N447I	possibly 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
R1501:Or4c102	UTSW	2	88,422,492 (GRCm39)	missense	possibly damaging	0.94
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
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'- TGATGACTCCTAGGGTGTGC -3'
(R):5'- GTCTATTGGGAATGTCACCACAG -3'

Sequencing Primer
(F):5'- CTGCTTGATGGTAGGAGGAGC -3'
(R):5'- GGAATGTCACCACAGGCCTC -3'

Posted On

2019-12-20