Mutagenetix > Incidental Mutation

Incidental Mutation 'R5185:Or4c123'

397795

Institutional Source

Beutler Lab

Gene Symbol

Or4c123

Ensembl Gene

ENSMUSG00000075094

Gene Name

olfactory receptor family 4 subfamily C member 123

Synonyms

GA_x6K02T2Q125-50741934-50741017, MOR237-1, Olfr1230

MMRRC Submission

042764-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5185 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89126695-89127612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89126731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 294 (H294Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099787] [ENSMUST00000216144]

AlphaFold

Q8VG58

Predicted Effect

probably benign
Transcript: ENSMUST00000099787
AA Change: H294Q

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

SMART Domains

Protein: ENSMUSP00000097375
Gene: ENSMUSG00000075094
AA Change: H294Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	5.7e-44	PFAM
Pfam:7tm_1	39	285	6.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216144

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

95% (70/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	T	C	11: 94,453,737 (GRCm39)	Y408C	probably damaging	Het
Aox4	T	C	1: 58,293,477 (GRCm39)	L943S	probably damaging	Het
Ap1g1	G	A	8: 110,589,958 (GRCm39)		probably benign	Het
Arsb	T	C	13: 93,930,667 (GRCm39)	S212P	probably damaging	Het
Arsi	A	G	18: 61,049,984 (GRCm39)	N289S	probably damaging	Het
Atp6v1h	T	A	1: 5,165,865 (GRCm39)	F72I	probably damaging	Het
Atxn7	T	C	14: 14,090,063 (GRCm38)	I336T	probably benign	Het
Bak1	G	A	17: 27,241,722 (GRCm39)	P65L	possibly damaging	Het
Bcl6	A	T	16: 23,791,697 (GRCm39)	M219K	possibly damaging	Het
Brd3	T	C	2: 27,352,460 (GRCm39)	K157E	probably damaging	Het
Ccdc171	T	G	4: 83,581,892 (GRCm39)	S674A	possibly damaging	Het
Cfap43	A	G	19: 47,768,833 (GRCm39)	I737T	probably benign	Het
Cul9	A	T	17: 46,836,758 (GRCm39)	V1089D	possibly damaging	Het
Dffa	C	A	4: 149,201,887 (GRCm39)	A155E	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Efcab12	T	A	6: 115,800,451 (GRCm39)	M191L	probably benign	Het
Efl1	T	C	7: 82,421,707 (GRCm39)	L1018P	probably damaging	Het
Fcho1	A	G	8: 72,167,600 (GRCm39)		probably benign	Het
Fndc3b	T	A	3: 27,511,219 (GRCm39)	T764S	probably benign	Het
Gm29125	T	C	1: 80,361,948 (GRCm39)		noncoding transcript	Het
Gm5108	A	G	5: 68,101,953 (GRCm39)		probably benign	Het
Gm9949	T	G	18: 62,313,636 (GRCm39)		probably benign	Het
Golgb1	T	C	16: 36,695,503 (GRCm39)		probably benign	Het
Gpd2	T	C	2: 57,230,216 (GRCm39)	Y323H	probably damaging	Het
Grip1	T	G	10: 119,767,164 (GRCm39)	D96E	probably benign	Het
Hmcn1	T	C	1: 150,532,492 (GRCm39)	I3132V	probably benign	Het
Hsd17b1	T	C	11: 100,971,024 (GRCm39)	W327R	possibly damaging	Het
Htra2	G	A	6: 83,031,223 (GRCm39)	P62L	probably benign	Het
Kdr	A	T	5: 76,113,077 (GRCm39)		probably null	Het
Kif14	T	A	1: 136,455,207 (GRCm39)	C1626*	probably null	Het
Kmt2a	A	T	9: 44,731,543 (GRCm39)		probably benign	Het
Krt15	T	C	11: 100,024,259 (GRCm39)	T321A	probably damaging	Het
Lactbl1	A	T	4: 136,358,356 (GRCm39)	H109L	probably benign	Het
Lilra6	T	A	7: 3,917,635 (GRCm39)	H120L	probably benign	Het
Lpcat2	G	A	8: 93,596,365 (GRCm39)	S134N	probably benign	Het
Mpp4	T	C	1: 59,164,742 (GRCm39)	D465G	probably benign	Het
Naip2	A	T	13: 100,325,859 (GRCm39)	D16E	probably damaging	Het
Nek5	C	T	8: 22,573,397 (GRCm39)	A520T	possibly damaging	Het
Nfatc2	A	G	2: 168,412,627 (GRCm39)	F132L	possibly damaging	Het
Nlrp3	C	A	11: 59,455,910 (GRCm39)	T902N	probably benign	Het
Or10d1b	A	T	9: 39,613,172 (GRCm39)	W298R	probably benign	Het
Or7e165	T	C	9: 19,694,672 (GRCm39)	M81T	probably damaging	Het
Or8h7	T	C	2: 86,720,946 (GRCm39)	D191G	probably benign	Het
Pcdhb16	T	C	18: 37,613,142 (GRCm39)	S701P	possibly damaging	Het
Phf7	A	G	14: 30,969,994 (GRCm39)		probably null	Het
Plpp4	G	A	7: 128,918,028 (GRCm39)	V68M	probably damaging	Het
Pnma2	A	T	14: 67,153,578 (GRCm39)	M1L	possibly damaging	Het
Pnma8b	A	T	7: 16,679,901 (GRCm39)	D295V	probably damaging	Het
Rad21l	T	C	2: 151,499,382 (GRCm39)	D270G	probably benign	Het
Ralgapa2	C	A	2: 146,230,406 (GRCm39)		probably null	Het
Rasal3	A	T	17: 32,615,764 (GRCm39)	L334Q	probably damaging	Het
Rfx4	G	T	10: 84,699,114 (GRCm39)	R240L	probably damaging	Het
Rnf19b	T	A	4: 128,977,713 (GRCm39)	C642*	probably null	Het
Slc28a2	G	A	2: 122,288,675 (GRCm39)	E594K	probably benign	Het
Spata31	G	T	13: 65,065,340 (GRCm39)	W15L	possibly damaging	Het
Spink5	T	C	18: 44,148,711 (GRCm39)	S925P	probably damaging	Het
Svep1	C	T	4: 58,084,534 (GRCm39)	G1865S	probably damaging	Het
Tg	T	C	15: 66,645,323 (GRCm39)	L791P	probably damaging	Het
Thbs4	A	C	13: 92,911,675 (GRCm39)	V247G	probably damaging	Het
Tpcn2	A	T	7: 144,809,191 (GRCm39)	F705Y	probably damaging	Het
Try10	A	T	6: 41,333,483 (GRCm39)	H76L	probably damaging	Het
Ttn	C	T	2: 76,769,565 (GRCm39)	V2695I	probably damaging	Het
Tut1	C	A	19: 8,932,814 (GRCm39)	T49N	probably benign	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Xdh	G	A	17: 74,232,006 (GRCm39)	R235C	probably damaging	Het
Yipf4	A	G	17: 74,799,470 (GRCm39)	D70G	probably null	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het

Other mutations in Or4c123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Or4c123	APN	2	89,126,799 (GRCm39)	missense	probably benign	0.40
IGL01419:Or4c123	APN	2	89,126,689 (GRCm39)	unclassified	probably benign
IGL01644:Or4c123	APN	2	89,126,976 (GRCm39)	missense	probably benign	0.01
IGL01653:Or4c123	APN	2	89,127,471 (GRCm39)	missense	probably benign	0.08
IGL01674:Or4c123	APN	2	89,127,014 (GRCm39)	missense	probably damaging	1.00
IGL02124:Or4c123	APN	2	89,127,407 (GRCm39)	missense	probably benign	0.01
IGL03053:Or4c123	APN	2	89,126,789 (GRCm39)	missense	probably damaging	0.97
R0504:Or4c123	UTSW	2	89,127,083 (GRCm39)	missense	probably damaging	0.99
R1473:Or4c123	UTSW	2	89,127,250 (GRCm39)	nonsense	probably null
R1742:Or4c123	UTSW	2	89,126,768 (GRCm39)	missense	probably damaging	1.00
R1899:Or4c123	UTSW	2	89,127,014 (GRCm39)	missense	probably damaging	1.00
R1900:Or4c123	UTSW	2	89,127,014 (GRCm39)	missense	probably damaging	1.00
R1945:Or4c123	UTSW	2	89,127,128 (GRCm39)	missense	probably damaging	1.00
R2935:Or4c123	UTSW	2	89,127,604 (GRCm39)	missense	possibly damaging	0.69
R3421:Or4c123	UTSW	2	89,126,897 (GRCm39)	missense	probably benign	0.03
R5377:Or4c123	UTSW	2	89,127,506 (GRCm39)	missense	probably damaging	0.99
R5400:Or4c123	UTSW	2	89,127,257 (GRCm39)	missense	probably damaging	1.00
R6083:Or4c123	UTSW	2	89,127,368 (GRCm39)	missense	probably damaging	1.00
R6086:Or4c123	UTSW	2	89,127,198 (GRCm39)	missense	probably damaging	1.00
R6155:Or4c123	UTSW	2	89,126,765 (GRCm39)	missense	probably damaging	1.00
R6218:Or4c123	UTSW	2	89,127,306 (GRCm39)	missense	probably damaging	0.98
R6361:Or4c123	UTSW	2	89,126,990 (GRCm39)	missense	probably damaging	0.98
R8053:Or4c123	UTSW	2	89,127,540 (GRCm39)	missense	possibly damaging	0.69
R8905:Or4c123	UTSW	2	89,126,801 (GRCm39)	missense	possibly damaging	0.89
Z1176:Or4c123	UTSW	2	89,127,297 (GRCm39)	missense	probably damaging	1.00
Z1177:Or4c123	UTSW	2	89,126,796 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AGAACACAAGCCCTGCTGTG -3'
(R):5'- ACATGTAGCTCTCACTTCACAG -3'

Sequencing Primer
(F):5'- CCCTGCTGTGACAAGGATAG -3'
(R):5'- ACAGTGGTTGTGTTGTTCTTTGTACC -3'

Posted On

2016-07-06