Mutagenetix > Incidental Mutation

Incidental Mutation 'R8252:Or4c102'

640166

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

067678-MU

Accession Numbers

Essential gene?

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

Stock #

R8252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88422150-88423070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88423011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 288 (R288G)

Ref Sequence

ENSEMBL: ENSMUSP00000088201 (fasta)

Gene Model

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

AlphaFold

A2AV11

Predicted Effect

probably damaging
Transcript: ENSMUST00000090700
AA Change: R288G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088201
Gene: ENSMUSG00000068808
AA Change: R288G

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,861,284 (GRCm39)		probably benign	Het
Ano4	A	G	10: 88,816,881 (GRCm39)	I644T	probably damaging	Het
Arhgap18	T	A	10: 26,730,932 (GRCm39)	D203E	probably benign	Het
Ascc3	T	A	10: 50,518,706 (GRCm39)	M337K	probably benign	Het
Atg13	G	C	2: 91,510,699 (GRCm39)	P343A	probably benign	Het
Cacna1c	C	T	6: 118,634,335 (GRCm39)	V1058I		Het
Cd180	A	G	13: 102,842,504 (GRCm39)	T517A	probably benign	Het
Cd1d2	A	C	3: 86,894,375 (GRCm39)	I48L	probably benign	Het
Cdh19	C	T	1: 110,817,615 (GRCm39)	C709Y	probably benign	Het
Chst10	T	C	1: 38,923,433 (GRCm39)	D51G	probably benign	Het
Clec2g	G	A	6: 128,958,335 (GRCm39)	E184K	probably benign	Het
Col19a1	T	A	1: 24,319,048 (GRCm39)	H1014L	probably benign	Het
Fam135b	T	A	15: 71,404,872 (GRCm39)	H58L	probably benign	Het
Fam171b	A	G	2: 83,708,586 (GRCm39)	I363V	probably benign	Het
Hecw1	C	A	13: 14,515,425 (GRCm39)	G236W	probably damaging	Het
Htra3	A	G	5: 35,810,305 (GRCm39)	M459T	probably benign	Het
Iglc2	A	T	16: 19,017,520 (GRCm39)	C27*	probably null	Het
Il36b	A	T	2: 24,048,825 (GRCm39)	T77S	possibly damaging	Het
Kif1b	A	T	4: 149,358,262 (GRCm39)	N135K	probably damaging	Het
Krt5	A	T	15: 101,620,794 (GRCm39)	I151N	probably damaging	Het
Lama4	A	T	10: 38,936,142 (GRCm39)	M606L	probably benign	Het
Lgr6	T	A	1: 134,931,215 (GRCm39)	S280C	probably null	Het
Msh3	T	A	13: 92,357,569 (GRCm39)	T967S	probably damaging	Het
Ndufb4	T	C	16: 37,474,637 (GRCm39)	T29A	probably benign	Het
Nfe2l1	T	C	11: 96,710,058 (GRCm39)	M724V	probably benign	Het
Nudt12	T	C	17: 59,318,089 (GRCm39)	Y52C	probably damaging	Het
Nutm1	G	T	2: 112,082,174 (GRCm39)	Q301K	probably damaging	Het
Or2t46	T	A	11: 58,471,958 (GRCm39)	I96N	probably damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Or6e1	T	A	14: 54,519,704 (GRCm39)	Y216F	possibly damaging	Het
Pcdh9	T	C	14: 94,126,086 (GRCm39)	Y28C	probably damaging	Het
Pcdha11	G	C	18: 37,140,590 (GRCm39)	V740L	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,472 (GRCm39)	T1273A	probably benign	Het
Pla2g4a	T	C	1: 149,727,058 (GRCm39)	D574G	probably damaging	Het
Prrc2b	A	T	2: 32,109,392 (GRCm39)	Q1719L	possibly damaging	Het
Psap	A	G	10: 60,113,511 (GRCm39)		probably benign	Het
Pwwp3a	A	G	10: 80,077,694 (GRCm39)	I656V	probably benign	Het
Rab11fip2	C	T	19: 59,925,422 (GRCm39)	S265N	probably benign	Het
Rnf10	A	T	5: 115,398,373 (GRCm39)	D53E	probably benign	Het
Scgb2b11	T	C	7: 31,908,764 (GRCm39)	E112G	probably benign	Het
Scml4	T	C	10: 42,800,100 (GRCm39)	Y85H	noncoding transcript	Het
Setd5	T	A	6: 113,127,916 (GRCm39)	Y1290N	probably benign	Het
Sgk1	T	A	10: 21,873,298 (GRCm39)	C375S	probably damaging	Het
Sik2	A	G	9: 50,828,415 (GRCm39)	V209A	possibly damaging	Het
Sipa1l2	A	T	8: 126,195,410 (GRCm39)	V776D	probably damaging	Het
Slamf1	T	A	1: 171,594,796 (GRCm39)	M1K	probably null	Het
Slc26a7	T	C	4: 14,621,415 (GRCm39)		probably benign	Het
Spg11	G	T	2: 121,918,820 (GRCm39)		probably benign	Het
Sry	C	A	Y: 2,663,298 (GRCm39)	A121S	possibly damaging	Het
Sspo	C	T	6: 48,462,386 (GRCm39)	T3719I	probably damaging	Het
Tcap	T	C	11: 98,275,171 (GRCm39)	S102P	probably benign	Het
Thap7	T	C	16: 17,346,486 (GRCm39)	R166G	probably benign	Het
Tmem229a	T	C	6: 24,955,580 (GRCm39)	Y58C	probably damaging	Het
Trim8	A	G	19: 46,504,059 (GRCm39)	Y537C	probably damaging	Het
Ubr4	T	A	4: 139,200,528 (GRCm39)	M4692K	unknown	Het
Uvssa	A	G	5: 33,549,523 (GRCm39)	S395G	probably benign	Het
Vgll4	G	T	6: 114,867,695 (GRCm39)	T52K	probably damaging	Het
Vmn2r7	A	G	3: 64,600,527 (GRCm39)	L548P	probably benign	Het
Vmn2r92	T	A	17: 18,387,134 (GRCm39)	S158T	probably damaging	Het
Wdr70	A	T	15: 8,072,337 (GRCm39)		probably benign	Het
Zbtb48	A	T	4: 152,105,344 (GRCm39)	C463S	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
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
R7837:Or4c102	UTSW	2	88,422,723 (GRCm39)	missense	possibly damaging	0.80
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'- TCTTATAGTTCTGAAGGGAGACGC -3'
(R):5'- TGCTGGAAACTAAACAGTAGCC -3'

Sequencing Primer
(F):5'- GCAAAGCCCTCTCTACATGTAG -3'
(R):5'- CAGTAGCCAGGAGATAGCTTTATCTG -3'

Posted On

2020-07-28