Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Or4c123'

429916

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

042971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89126695-89127612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89127257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 119 (D119G)

Ref Sequence

ENSEMBL: ENSMUSP00000097375 (fasta)

Gene Model

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

AlphaFold

Q8VG58

Predicted Effect

probably damaging
Transcript: ENSMUST00000099787
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097375
Gene: ENSMUSG00000075094
AA Change: D119G

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	C	2: 93,689,767 (GRCm39)	D380G	probably damaging	Het
Afm	T	C	5: 90,699,257 (GRCm39)	L567P	possibly damaging	Het
Anks1b	A	T	10: 90,348,686 (GRCm39)	I785L	probably damaging	Het
Arpc5l	G	A	2: 38,903,747 (GRCm39)	G79S	probably benign	Het
Arvcf	G	T	16: 18,217,820 (GRCm39)	R440L	probably benign	Het
Atm	T	C	9: 53,414,318 (GRCm39)	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,679,060 (GRCm39)		probably null	Het
Cd19	C	T	7: 126,013,624 (GRCm39)	G55D	probably benign	Het
Cd34	A	G	1: 194,621,266 (GRCm39)		probably benign	Het
Cd69	T	A	6: 129,246,954 (GRCm39)	M88L	probably benign	Het
Ces2h	A	G	8: 105,745,057 (GRCm39)	E397G	probably benign	Het
Ddx60	T	C	8: 62,463,036 (GRCm39)	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 148,901,514 (GRCm39)	E1124G	probably damaging	Het
Dio1	A	T	4: 107,164,185 (GRCm39)	M44K	probably damaging	Het
Elapor2	A	T	5: 9,529,247 (GRCm39)	N1027Y	probably damaging	Het
En1	A	G	1: 120,531,324 (GRCm39)	D188G	probably damaging	Het
Epha10	C	T	4: 124,807,914 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,623,388 (GRCm39)	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,855,039 (GRCm39)		probably null	Het
Kansl3	A	G	1: 36,397,230 (GRCm39)	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,331,918 (GRCm39)	F73L	probably damaging	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mknk1	C	A	4: 115,721,749 (GRCm39)	L98M	probably damaging	Het
Mknk1	T	A	4: 115,721,750 (GRCm39)	L98Q	probably damaging	Het
Myo3b	T	A	2: 69,935,724 (GRCm39)	C97S	probably damaging	Het
Neto1	A	G	18: 86,414,033 (GRCm39)	H9R	possibly damaging	Het
Omd	A	T	13: 49,745,703 (GRCm39)	E371V	probably benign	Het
Or1n2	A	T	2: 36,797,833 (GRCm39)	I292F	probably damaging	Het
Or2w3b	T	C	11: 58,623,146 (GRCm39)	T282A	possibly damaging	Het
Or51e2	G	A	7: 102,391,637 (GRCm39)	T191I	probably benign	Het
Osbpl9	G	T	4: 108,919,497 (GRCm39)	Y733*	probably null	Het
Pcdh12	A	T	18: 38,401,951 (GRCm39)	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911 (GRCm38)	P144Q	probably benign	Het
Qser1	A	G	2: 104,620,219 (GRCm39)	S198P	probably damaging	Het
Recql	T	G	6: 142,308,073 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,184,712 (GRCm39)	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,438,100 (GRCm39)	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,598,974 (GRCm39)	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shoc1	A	G	4: 59,082,432 (GRCm39)	S399P	possibly damaging	Het
Slc13a4	A	T	6: 35,278,777 (GRCm39)	C37*	probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a9	T	A	9: 94,594,954 (GRCm39)	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,367 (GRCm39)	K1193M	probably damaging	Het
Swt1	T	C	1: 151,288,585 (GRCm39)	T80A	probably benign	Het
Tmc1	A	G	19: 20,781,966 (GRCm39)	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,654,494 (GRCm39)	F324L	probably benign	Het
Usp19	T	C	9: 108,377,392 (GRCm39)	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wrn	C	T	8: 33,784,945 (GRCm39)	V476I	probably benign	Het
Zbed6	G	A	1: 133,585,879 (GRCm39)	T486I	probably damaging	Het
Zbtb25	C	A	12: 76,396,476 (GRCm39)	E249*	probably null	Het
Zfp54	C	A	17: 21,653,962 (GRCm39)	T152K	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
R5185:Or4c123	UTSW	2	89,126,731 (GRCm39)	missense	probably benign
R5377:Or4c123	UTSW	2	89,127,506 (GRCm39)	missense	probably damaging	0.99
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'- GTTGCAACAACGGGAACAAGTC -3'
(R):5'- TCCGAATCTGAGGTCTCCCATG -3'

Sequencing Primer
(F):5'- CGGGAACAAGTCACAGATCACATG -3'
(R):5'- CACTGCTCCCAAGTTGAT -3'

Posted On

2016-09-06