Mutagenetix > Incidental Mutation

Incidental Mutation 'R6354:Or4c102'

512942

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

044506-MU

Accession Numbers

Essential gene?

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

Stock #

R6354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88422150-88423070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88422478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 110 (I110N)

Ref Sequence

ENSEMBL: ENSMUSP00000149696 (fasta)

Gene Model

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

AlphaFold

A2AV11

Predicted Effect

probably damaging
Transcript: ENSMUST00000090700
AA Change: I110N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088201
Gene: ENSMUSG00000068808
AA Change: I110N

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

probably damaging
Transcript: ENSMUST00000213679
AA Change: I110N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.3%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,685,042 (GRCm39)	K152E	probably benign	Het
Adamts20	C	A	15: 94,245,691 (GRCm39)	C537F	probably damaging	Het
Apc	A	T	18: 34,445,581 (GRCm39)	T808S	probably benign	Het
Atad3a	A	G	4: 155,838,402 (GRCm39)	I205T	possibly damaging	Het
Casz1	G	T	4: 149,036,999 (GRCm39)	G1754C	unknown	Het
Ccdc62	C	T	5: 124,082,267 (GRCm39)	A232V	probably damaging	Het
Cdc27	C	A	11: 104,425,574 (GRCm39)	D81Y	probably damaging	Het
Cep126	A	G	9: 8,099,928 (GRCm39)	S869P	probably damaging	Het
Cfap251	C	T	5: 123,440,818 (GRCm39)	T1125I	probably damaging	Het
Ciita	A	T	16: 10,341,610 (GRCm39)	K983N	probably damaging	Het
Cimap1a	A	G	7: 140,430,527 (GRCm39)		probably null	Het
Clstn1	A	C	4: 149,727,673 (GRCm39)	Q523P	probably benign	Het
Cpb2	T	C	14: 75,495,145 (GRCm39)		probably null	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Csmd3	C	T	15: 47,744,885 (GRCm39)	G1370D	probably damaging	Het
Cwf19l1	G	T	19: 44,115,912 (GRCm39)	D172E	probably benign	Het
Cyp4a14	A	G	4: 115,344,441 (GRCm39)	F475L	probably damaging	Het
Fam98c	C	T	7: 28,852,272 (GRCm39)	V298M	probably damaging	Het
Gcsh	T	C	8: 117,710,582 (GRCm39)	N127S	probably benign	Het
Gimap4	T	C	6: 48,663,814 (GRCm39)	F10S	possibly damaging	Het
Gm4787	C	T	12: 81,424,755 (GRCm39)	A468T	probably damaging	Het
Gm5111	G	A	6: 48,567,268 (GRCm39)		probably benign	Het
Gm7137	C	A	10: 77,623,481 (GRCm39)		probably benign	Het
Inpp1	A	G	1: 52,836,224 (GRCm39)	S81P	probably damaging	Het
Iqce	T	C	5: 140,662,090 (GRCm39)		probably null	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Krtap13	C	A	16: 88,548,131 (GRCm39)	C119F	probably damaging	Het
Lama2	G	T	10: 27,088,064 (GRCm39)	D904E	probably damaging	Het
Lrrc37a	T	A	11: 103,355,213 (GRCm39)	I2535F	unknown	Het
Lrrc40	T	A	3: 157,766,901 (GRCm39)	L452*	probably null	Het
Meis1	A	T	11: 18,966,184 (GRCm39)	M63K	possibly damaging	Het
Mpo	T	A	11: 87,688,172 (GRCm39)	I277N	possibly damaging	Het
Mtmr11	T	A	3: 96,075,992 (GRCm39)	F406I	probably benign	Het
Muc4	T	C	16: 32,575,476 (GRCm39)	S1411P	probably benign	Het
Or2y1b	A	T	11: 49,208,465 (GRCm39)	I31F	probably damaging	Het
Or56a5	G	A	7: 104,792,915 (GRCm39)	T195I	probably benign	Het
Phf21a	G	A	2: 92,179,282 (GRCm39)	G298R	probably damaging	Het
Phldb2	T	C	16: 45,645,477 (GRCm39)	Y368C	probably damaging	Het
Pik3cb	G	T	9: 98,955,696 (GRCm39)	T407K	probably benign	Het
Robo3	A	T	9: 37,328,513 (GRCm39)		probably benign	Het
Sgsm1	T	G	5: 113,430,522 (GRCm39)	T288P	probably damaging	Het
Slc5a7	A	G	17: 54,584,061 (GRCm39)	S410P	probably damaging	Het
Tmc6	A	C	11: 117,665,062 (GRCm39)	C404G	probably benign	Het
Tnrc6c	A	T	11: 117,640,440 (GRCm39)	Q1410L	possibly damaging	Het
Trak1	A	T	9: 121,280,792 (GRCm39)	T384S	probably null	Het
Txlna	A	T	4: 129,528,205 (GRCm39)	L244Q	probably damaging	Het
Ube3c	T	C	5: 29,868,581 (GRCm39)	F939L	probably damaging	Het
Vmn2r65	T	A	7: 84,589,574 (GRCm39)	I781F	probably benign	Het
Vmn2r72	A	G	7: 85,399,747 (GRCm39)		probably null	Het
Vps36	T	C	8: 22,695,771 (GRCm39)	S109P	probably damaging	Het
Wrn	T	C	8: 33,833,666 (GRCm39)	I82M	possibly damaging	Het
Zbtb49	T	C	5: 38,360,903 (GRCm39)	R511G	possibly damaging	Het
Zeb1	A	G	18: 5,772,743 (GRCm39)	T1011A	possibly damaging	Het
Zfhx4	T	C	3: 5,467,011 (GRCm39)	S2390P	probably benign	Het
Zfp619	C	A	7: 39,184,243 (GRCm39)	T91K	probably benign	Het
Zfp644	A	G	5: 106,784,619 (GRCm39)	S643P	probably benign	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
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'- TCTGAGGTCACCCATGTACTTC -3'
(R):5'- CCAGCTTCAGCAATGGAAAC -3'

Sequencing Primer
(F):5'- CTTCCTTTTATCTTTGTCACTCATGG -3'
(R):5'- GCTTCAGCAATGGAAACAAATC -3'

Posted On

2018-04-27