Mutagenetix > Incidental Mutation

Incidental Mutation 'R5377:Or4c123'

425599

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

042845-MU

Accession Numbers

Essential gene?

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

Stock #

R5377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89126695-89127612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89127506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 36 (T36K)

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: T36K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097375
Gene: ENSMUSG00000075094
AA Change: T36K

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,622,212 (GRCm39)	V372F	probably benign	Het
Adcy10	G	A	1: 165,347,464 (GRCm39)	C393Y	probably damaging	Het
Adgrg7	A	C	16: 56,550,669 (GRCm39)	I681S	possibly damaging	Het
Akap8l	T	C	17: 32,540,485 (GRCm39)		probably benign	Het
Akr1a1	A	T	4: 116,497,092 (GRCm39)	V156E	probably damaging	Het
Alk	T	G	17: 72,202,734 (GRCm39)	D1167A	probably damaging	Het
Ankrd11	T	C	8: 123,620,453 (GRCm39)		probably null	Het
Aspm	T	A	1: 139,385,221 (GRCm39)	N288K	probably damaging	Het
Aspm	A	G	1: 139,398,133 (GRCm39)		probably null	Het
Asxl2	G	A	12: 3,524,618 (GRCm39)		probably null	Het
Atp6v0a1	A	G	11: 100,946,413 (GRCm39)	H802R	probably damaging	Het
B4galnt1	A	G	10: 127,007,691 (GRCm39)	T531A	possibly damaging	Het
Cecr2	A	G	6: 120,733,530 (GRCm39)	N506D	possibly damaging	Het
Crebrf	T	C	17: 26,978,839 (GRCm39)	V509A	probably damaging	Het
Cyp4f40	A	T	17: 32,894,590 (GRCm39)	I413F	probably null	Het
Defb12	C	A	8: 19,164,342 (GRCm39)		probably null	Het
Dnah2	T	C	11: 69,312,674 (GRCm39)	E4297G	probably damaging	Het
Dpysl5	A	T	5: 30,948,857 (GRCm39)	N371Y	probably damaging	Het
Eef1d	G	T	15: 75,775,038 (GRCm39)	T207N	probably benign	Het
Esrrb	C	T	12: 86,565,783 (GRCm39)	Q416*	probably null	Het
Exd2	T	C	12: 80,536,222 (GRCm39)	L284P	probably damaging	Het
Fat3	T	A	9: 16,287,739 (GRCm39)	I595F	probably benign	Het
Gm9920	A	G	15: 54,972,371 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,084 (GRCm39)	K783E	probably damaging	Het
Irs2	A	G	8: 11,055,277 (GRCm39)	S1052P	probably benign	Het
Kctd18	T	C	1: 58,002,252 (GRCm39)	I192V	probably benign	Het
Lama3	A	G	18: 12,586,803 (GRCm39)	D722G	probably damaging	Het
Lepr	T	C	4: 101,672,216 (GRCm39)	V1080A	possibly damaging	Het
Lpin1	C	T	12: 16,613,656 (GRCm39)	G504S	probably damaging	Het
Lrit2	A	C	14: 36,791,140 (GRCm39)	Q273P	possibly damaging	Het
Mlkl	T	A	8: 112,054,569 (GRCm39)	E189D	probably benign	Het
Mttp	C	T	3: 137,810,790 (GRCm39)	R608H	probably benign	Het
Nav2	T	C	7: 49,238,908 (GRCm39)	V2011A	probably benign	Het
Nos2	A	T	11: 78,848,317 (GRCm39)	I1075F	probably benign	Het
Npat	A	G	9: 53,461,336 (GRCm39)		probably null	Het
Nucks1	T	C	1: 131,846,771 (GRCm39)	F16L	probably damaging	Het
Nus1	T	C	10: 52,305,309 (GRCm39)	S150P	possibly damaging	Het
Odad1	C	T	7: 45,591,506 (GRCm39)	R257*	probably null	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or8b35	A	T	9: 37,903,908 (GRCm39)	Y40F	probably benign	Het
Pclo	A	G	5: 14,731,367 (GRCm39)	T3290A	unknown	Het
Pign	A	T	1: 105,585,537 (GRCm39)	F4Y	probably benign	Het
Rfx4	A	G	10: 84,696,406 (GRCm39)	N233D	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,652 (GRCm39)	M1325L	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf11	T	A	15: 96,315,001 (GRCm39)	H1227L	possibly damaging	Het
Sec31b	G	T	19: 44,507,076 (GRCm39)	P840T	probably damaging	Het
Slc16a9	T	A	10: 70,118,958 (GRCm39)	L426I	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc34a1	T	C	13: 23,996,575 (GRCm39)	S27P	probably damaging	Het
Tacc1	A	G	8: 25,672,299 (GRCm39)	S310P	possibly damaging	Het
Tmem245	G	A	4: 56,947,084 (GRCm39)	R110C	probably damaging	Het
Trip12	T	C	1: 84,735,152 (GRCm39)	Y953C	probably damaging	Het
Trpm7	C	A	2: 126,684,775 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,644,320 (GRCm39)	V4561I	probably benign	Het
Vmn1r192	C	T	13: 22,371,801 (GRCm39)	V140I	probably benign	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	T	C	17: 19,599,531 (GRCm39)	V405A	probably damaging	Het
Wdhd1	A	C	14: 47,509,678 (GRCm39)	V172G	probably benign	Het
Zfhx3	C	T	8: 109,677,817 (GRCm39)	R2956C	possibly damaging	Het
Zfp446	T	C	7: 12,716,178 (GRCm39)	L283P	possibly damaging	Het
Zfp82	T	C	7: 29,756,591 (GRCm39)	K164E	probably damaging	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
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'- AGTTGGGTCATGCAGCCTTC -3'
(R):5'- CAGCATGCAGCAATGTCTATTACATAC -3'

Sequencing Primer
(F):5'- CATGCAGCCTTCTAGGGAGATG -3'
(R):5'- CCAGCTCACATCAAATGGA -3'

Posted On

2016-08-04