Mutagenetix > Incidental Mutation

Incidental Mutation 'R2862:Or4c109'

252893

Institutional Source

Beutler Lab

Gene Symbol

Or4c109

Ensembl Gene

ENSMUSG00000075110

Gene Name

olfactory receptor family 4 subfamily C member 109

Synonyms

GA_x6K02T2Q125-50468705-50467770, MOR233-8, Olfr1214

MMRRC Submission

040452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88817609-88818544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88817664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 294 (I294K)

Ref Sequence

ENSEMBL: ENSMUSP00000150322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099804] [ENSMUST00000216026] [ENSMUST00000217469]

AlphaFold

A2ATG3

Predicted Effect

probably benign
Transcript: ENSMUST00000099804
AA Change: I294K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097392
Gene: ENSMUSG00000075110
AA Change: I294K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.1e-45	PFAM
Pfam:7tm_1	39	286	4.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216026
AA Change: I294K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000217469
AA Change: I294K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ahi1	T	A	10: 20,857,307 (GRCm39)	V634E	probably damaging	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Aqr	A	T	2: 113,967,398 (GRCm39)	V539D	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Ccdc121	G	A	5: 31,643,255 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,935,539 (GRCm39)	E392G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Dnah1	C	T	14: 31,006,719 (GRCm39)	G2199S	probably benign	Het
Dnhd1	A	G	7: 105,361,766 (GRCm39)	E3608G	probably benign	Het
Ears2	A	T	7: 121,662,163 (GRCm39)	L95Q	probably damaging	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gata5	C	T	2: 179,976,129 (GRCm39)	G12S	possibly damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Grap2	A	T	15: 80,532,165 (GRCm39)	Q260L	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama2	G	A	10: 27,298,608 (GRCm39)	Q163*	probably null	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lamp5	A	T	2: 135,900,866 (GRCm39)	H22L	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Mrps18b	G	A	17: 36,221,746 (GRCm39)	S101L	probably benign	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Noc2l	A	G	4: 156,321,907 (GRCm39)	D102G	probably benign	Het
Ntn1	T	C	11: 68,276,690 (GRCm39)	E86G	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or52n1	A	G	7: 104,383,425 (GRCm39)	F49L	probably benign	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Pate3	T	A	9: 35,559,415 (GRCm39)	M1L	possibly damaging	Het
Pex2	A	G	3: 5,626,240 (GRCm39)	Y190H	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Rreb1	G	C	13: 38,116,429 (GRCm39)	A1263P	probably benign	Het
Rxfp1	A	G	3: 79,589,778 (GRCm39)	V121A	possibly damaging	Het
Slc35e4	A	T	11: 3,862,796 (GRCm39)	V131D	probably damaging	Het
Smyd4	T	A	11: 75,280,962 (GRCm39)	M145K	probably benign	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Srgap3	A	T	6: 112,699,933 (GRCm39)	F1015Y	probably damaging	Het
Synj1	T	C	16: 90,766,217 (GRCm39)	Y567C	probably damaging	Het
Tbc1d8	G	A	1: 39,441,777 (GRCm39)	Q272*	probably null	Het
Tinf2	T	C	14: 55,918,088 (GRCm39)	D127G	probably damaging	Het
Ube2v1	G	A	2: 167,459,885 (GRCm39)	P39L	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Zc3h6	A	G	2: 128,857,380 (GRCm39)	H633R	probably benign	Het

Other mutations in Or4c109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02650:Or4c109	APN	2	88,818,424 (GRCm39)	missense	probably benign	0.00
IGL03409:Or4c109	APN	2	88,817,931 (GRCm39)	missense	possibly damaging	0.93
R0046:Or4c109	UTSW	2	88,817,693 (GRCm39)	missense	probably benign	0.00
R0046:Or4c109	UTSW	2	88,817,693 (GRCm39)	missense	probably benign	0.00
R0503:Or4c109	UTSW	2	88,818,322 (GRCm39)	missense	probably benign	0.01
R0688:Or4c109	UTSW	2	88,817,939 (GRCm39)	missense	probably damaging	1.00
R1120:Or4c109	UTSW	2	88,818,423 (GRCm39)	missense	possibly damaging	0.51
R1752:Or4c109	UTSW	2	88,817,659 (GRCm39)	missense	possibly damaging	0.60
R2018:Or4c109	UTSW	2	88,818,489 (GRCm39)	missense	probably benign	0.06
R2281:Or4c109	UTSW	2	88,817,814 (GRCm39)	missense	probably benign	0.03
R2509:Or4c109	UTSW	2	88,817,775 (GRCm39)	missense	probably damaging	1.00
R3942:Or4c109	UTSW	2	88,818,455 (GRCm39)	missense	probably benign	0.15
R4894:Or4c109	UTSW	2	88,817,783 (GRCm39)	missense	possibly damaging	0.83
R4899:Or4c109	UTSW	2	88,818,454 (GRCm39)	missense	probably null	0.13
R5089:Or4c109	UTSW	2	88,818,516 (GRCm39)	missense	probably damaging	1.00
R5253:Or4c109	UTSW	2	88,818,444 (GRCm39)	missense	possibly damaging	0.67
R5338:Or4c109	UTSW	2	88,817,809 (GRCm39)	missense	possibly damaging	0.87
R6476:Or4c109	UTSW	2	88,817,721 (GRCm39)	missense	probably benign	0.06
R8411:Or4c109	UTSW	2	88,818,409 (GRCm39)	missense	probably benign	0.26
R9209:Or4c109	UTSW	2	88,818,057 (GRCm39)	nonsense	probably null
R9650:Or4c109	UTSW	2	88,818,006 (GRCm39)	nonsense	probably null
Z1177:Or4c109	UTSW	2	88,818,225 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GCACATGCCAGAAGAACATG -3'
(R):5'- CTACCTGTGGATCCCATATTACTG -3'

Sequencing Primer
(F):5'- AGTTGTCCAATTCAAACCTGGGC -3'
(R):5'- CTGTGGATCCCATATTACTGTTGTAG -3'

Posted On

2014-12-04