Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Or4c109'

377467

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88817609-88818544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88817783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 254 (I254M)

Ref Sequence

ENSEMBL: ENSMUSP00000150322 (fasta)

Gene Model

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

AlphaFold

A2ATG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099804
AA Change: I254M

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097392
Gene: ENSMUSG00000075110
AA Change: I254M

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

possibly damaging
Transcript: ENSMUST00000216026
AA Change: I254M

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217469
AA Change: I254M

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,609,975 (GRCm39)	Y176*	probably null	Het
Akap13	T	A	7: 75,375,068 (GRCm39)	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,585,332 (GRCm39)	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,891,183 (GRCm39)		probably null	Het
Cacna1e	G	T	1: 154,364,551 (GRCm39)	S341*	probably null	Het
Camk1d	G	A	2: 5,359,539 (GRCm39)	S161L	probably damaging	Het
Cdh23	G	T	10: 60,173,630 (GRCm39)	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629 (GRCm39)	I1276N	probably damaging	Het
Clca3a1	A	G	3: 144,719,662 (GRCm39)	V436A	probably damaging	Het
Ctcfl	G	A	2: 172,959,196 (GRCm39)	P177S	probably benign	Het
Dab2ip	A	G	2: 35,620,539 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011 (GRCm39)	S495R	probably benign	Het
Espl1	A	G	15: 102,230,758 (GRCm39)		probably null	Het
Eya4	T	C	10: 22,985,753 (GRCm39)	E583G	possibly damaging	Het
Fam111a	C	G	19: 12,565,913 (GRCm39)	T554R	probably benign	Het
Fbh1	A	T	2: 11,767,771 (GRCm39)	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,490,751 (GRCm39)	C1023R	probably damaging	Het
Helz2	G	C	2: 180,877,940 (GRCm39)	P953A	probably benign	Het
Ifi204	G	T	1: 173,587,808 (GRCm39)	S117Y	probably damaging	Het
Ift70a1	T	C	2: 75,810,088 (GRCm39)	*665W	probably null	Het
Igfn1	G	A	1: 135,882,520 (GRCm39)	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,325,634 (GRCm39)	T1101A	probably benign	Het
Ipo13	A	C	4: 117,760,638 (GRCm39)	I614S	probably damaging	Het
Ipo13	A	G	4: 117,761,687 (GRCm39)	I476T	possibly damaging	Het
Kdm2b	C	A	5: 123,079,030 (GRCm39)	E308*	probably null	Het
Klhl20	A	T	1: 160,937,102 (GRCm39)	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,030,151 (GRCm39)	F64L	probably benign	Het
Ldlrad3	C	T	2: 101,888,293 (GRCm39)	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,915,530 (GRCm39)	T161A	probably benign	Het
Lrriq1	A	T	10: 102,997,613 (GRCm39)	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,473,268 (GRCm39)	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,468,856 (GRCm39)	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877 (GRCm39)	S651A	probably damaging	Het
Or10ak13	A	T	4: 118,639,483 (GRCm39)	C100S	probably damaging	Het
Or2w6	T	C	13: 21,843,352 (GRCm39)	N47S	probably damaging	Het
Rag2	T	C	2: 101,460,022 (GRCm39)	S111P	probably damaging	Het
Rai1	T	A	11: 60,077,572 (GRCm39)	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,033,115 (GRCm39)	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,020,374 (GRCm39)	S205L	probably damaging	Het
Rec8	T	C	14: 55,862,787 (GRCm39)	L582P	probably damaging	Het
Retn	G	A	8: 3,707,358 (GRCm39)	R106H	probably damaging	Het
Rnf112	A	G	11: 61,343,488 (GRCm39)	L116P	probably damaging	Het
Rnf213	T	C	11: 119,372,066 (GRCm39)	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,411,409 (GRCm39)	I399M	probably benign	Het
Sez6	G	T	11: 77,866,086 (GRCm39)	G738V	probably damaging	Het
Spata17	A	G	1: 186,872,643 (GRCm39)	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,849,542 (GRCm39)	V862D	probably damaging	Het
Sptb	A	G	12: 76,671,768 (GRCm39)		probably null	Het
Srpk2	C	A	5: 23,750,527 (GRCm39)	G59W	probably damaging	Het
Tyro3	T	C	2: 119,632,779 (GRCm39)	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,452,280 (GRCm39)	S108P	probably damaging	Het
Usp2	C	T	9: 43,987,125 (GRCm39)	S141L	probably benign	Het
Vamp5	T	C	6: 72,347,181 (GRCm39)	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,903,310 (GRCm39)	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,454,829 (GRCm39)	S490N	probably benign	Het
Vps39	A	T	2: 120,183,440 (GRCm39)	I10N	probably damaging	Het
Vwf	C	T	6: 125,622,897 (GRCm39)	Q1755*	probably null	Het
Wdfy4	A	T	14: 32,877,717 (GRCm39)	H82Q	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,117,843 (GRCm39)	T852A	probably benign	Het
Zfp1	T	A	8: 112,396,355 (GRCm39)	C92*	probably null	Het
Zfp1004	T	A	2: 150,033,899 (GRCm39)	C104*	probably null	Het
Zfp426	A	T	9: 20,386,369 (GRCm39)		probably benign	Het
Zfp442	C	T	2: 150,253,130 (GRCm39)		probably null	Het
Zfp74	T	C	7: 29,635,470 (GRCm39)		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
R2862:Or4c109	UTSW	2	88,817,664 (GRCm39)	missense	probably benign
R3942:Or4c109	UTSW	2	88,818,455 (GRCm39)	missense	probably benign	0.15
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'- AGCTTGCCTGCACTGATATAC -3'

Sequencing Primer
(F):5'- TGGTAAGGATCCAAATCGTCCTC -3'
(R):5'- CACATTTTTATCATTTTGGTGTTTGC -3'

Posted On

2016-03-17