Mutagenetix > Incidental Mutation

Incidental Mutation 'R4901:Or4p23'

376137

Institutional Source

Beutler Lab

Gene Symbol

Or4p23

Ensembl Gene

ENSMUSG00000075117

Gene Name

olfactory receptor family 4 subfamily P member 23

Synonyms

GA_x6K02T2Q125-50221692-50220766, MOR225-13, Olfr1198

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88576304-88577230 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 88577231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099814] [ENSMUST00000215179] [ENSMUST00000215529]

AlphaFold

Q7TR12

Predicted Effect

probably null
Transcript: ENSMUST00000099814

SMART Domains

Protein: ENSMUSP00000097402
Gene: ENSMUSG00000075117

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.1e-49	PFAM
Pfam:7tm_1	38	284	1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215179

Predicted Effect

probably benign
Transcript: ENSMUST00000215529

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

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
Abcg4	C	T	9: 44,188,954 (GRCm39)		probably null	Het
Arg2	T	C	12: 79,194,485 (GRCm39)	V103A	probably damaging	Het
Bicra	T	A	7: 15,721,526 (GRCm39)	T664S	possibly damaging	Het
Bptf	A	T	11: 107,001,686 (GRCm39)	Y475*	probably null	Het
Calcrl	T	C	2: 84,163,857 (GRCm39)	I445V	probably benign	Het
Ccdc110	G	A	8: 46,396,437 (GRCm39)	R776Q	probably benign	Het
Ccnc	A	G	4: 21,727,894 (GRCm39)	N4S	probably damaging	Het
Ccni	G	A	5: 93,331,003 (GRCm39)	R323W	probably damaging	Het
Celsr2	T	A	3: 108,314,303 (GRCm39)	M1241L	possibly damaging	Het
Cpd	T	C	11: 76,681,707 (GRCm39)	I1145M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2j8	T	A	4: 96,367,323 (GRCm39)	D265V	probably benign	Het
Dennd2a	T	C	6: 39,499,621 (GRCm39)	T315A	probably benign	Het
Dgkz	T	A	2: 91,767,076 (GRCm39)	Q905L	probably benign	Het
Dnah8	G	A	17: 31,059,688 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Gm136	G	A	4: 34,746,580 (GRCm39)	Q144*	probably null	Het
Gon4l	T	C	3: 88,815,458 (GRCm39)	V2008A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Isyna1	A	T	8: 71,049,246 (GRCm39)	H414L	probably damaging	Het
Kif20b	A	G	19: 34,911,836 (GRCm39)	Y233C	probably benign	Het
Klk1	A	T	7: 43,878,139 (GRCm39)	I132F	probably damaging	Het
Klre1	A	T	6: 129,561,188 (GRCm39)	H183L	probably benign	Het
Lrp1b	T	C	2: 40,711,657 (GRCm39)	T3188A	probably damaging	Het
Mapk12	A	T	15: 89,018,841 (GRCm39)	L198*	probably null	Het
Mt4	A	C	8: 94,864,912 (GRCm39)	T29P	possibly damaging	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Nr1h4	T	C	10: 89,314,659 (GRCm39)	Q269R	possibly damaging	Het
Or51e1	A	G	7: 102,359,405 (GRCm39)	H313R	probably benign	Het
Pde1b	A	G	15: 103,435,112 (GRCm39)	I421V	probably null	Het
Pde3b	A	T	7: 114,107,425 (GRCm39)	T519S	probably damaging	Het
Phf21a	T	A	2: 92,187,346 (GRCm39)	C178*	probably null	Het
Phtf2	A	G	5: 21,010,722 (GRCm39)	S88P	possibly damaging	Het
Pik3c3	A	G	18: 30,435,982 (GRCm39)	M394V	possibly damaging	Het
Plxnb1	C	T	9: 108,934,027 (GRCm39)	P752S	probably benign	Het
Pp2d1	C	A	17: 53,822,037 (GRCm39)	G343V	probably benign	Het
Ppp6r2	A	G	15: 89,143,272 (GRCm39)	I140V	possibly damaging	Het
Ppp6r3	C	A	19: 3,517,229 (GRCm39)	V75L	probably damaging	Het
Ptprq	T	A	10: 107,524,275 (GRCm39)	H486L	probably benign	Het
Rasgrf1	C	T	9: 89,877,056 (GRCm39)	T807M	probably benign	Het
Rasgrp3	C	A	17: 75,821,111 (GRCm39)	Y439*	probably null	Het
Rbm44	A	G	1: 91,081,050 (GRCm39)	T413A	probably benign	Het
Rnf135	T	C	11: 80,089,662 (GRCm39)	C333R	probably damaging	Het
Scfd2	A	G	5: 74,680,226 (GRCm39)	V309A	probably damaging	Het
Semp2l1	T	C	1: 32,585,701 (GRCm39)	S70G	probably benign	Het
Serpina3m	A	T	12: 104,355,908 (GRCm39)	K192*	probably null	Het
Sft2d1rt	A	G	11: 45,942,656 (GRCm39)	S156P	probably damaging	Het
Sh3tc2	A	G	18: 62,123,506 (GRCm39)	I756V	probably benign	Het
Slc27a4	T	C	2: 29,702,648 (GRCm39)	V516A	probably damaging	Het
Sult2a5	T	A	7: 13,359,188 (GRCm39)	C55S	probably benign	Het
Tars3	C	T	7: 65,341,042 (GRCm39)	T783M	probably benign	Het
Tet2	A	T	3: 133,172,805 (GRCm39)	I1819N	possibly damaging	Het
Timeless	T	C	10: 128,086,631 (GRCm39)	F1057L	probably damaging	Het
Ttn	T	A	2: 76,628,418 (GRCm39)	I12835F	probably damaging	Het
Uhrf1	T	A	17: 56,617,834 (GRCm39)	D185E	probably benign	Het
Vmn2r74	G	T	7: 85,605,199 (GRCm39)	S483*	probably null	Het
Xpo1	A	T	11: 23,231,327 (GRCm39)	I304F	possibly damaging	Het
Zc3h11a	A	G	1: 133,552,449 (GRCm39)	S553P	probably benign	Het
Zdhhc1	A	G	8: 106,199,484 (GRCm39)	S402P	probably benign	Het
Zwilch	T	C	9: 64,070,028 (GRCm39)	Y101C	probably damaging	Het

Other mutations in Or4p23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02290:Or4p23	APN	2	88,576,729 (GRCm39)	missense	probably benign
IGL02316:Or4p23	APN	2	88,577,187 (GRCm39)	missense	probably damaging	0.97
R0726:Or4p23	UTSW	2	88,576,352 (GRCm39)	missense	probably benign	0.15
R1439:Or4p23	UTSW	2	88,577,178 (GRCm39)	missense	possibly damaging	0.57
R1706:Or4p23	UTSW	2	88,576,482 (GRCm39)	missense	probably damaging	1.00
R1757:Or4p23	UTSW	2	88,576,361 (GRCm39)	missense	probably benign	0.15
R2202:Or4p23	UTSW	2	88,576,953 (GRCm39)	missense	probably benign	0.00
R2203:Or4p23	UTSW	2	88,576,953 (GRCm39)	missense	probably benign	0.00
R2204:Or4p23	UTSW	2	88,576,953 (GRCm39)	missense	probably benign	0.00
R3085:Or4p23	UTSW	2	88,576,488 (GRCm39)	missense	probably damaging	1.00
R4934:Or4p23	UTSW	2	88,576,398 (GRCm39)	nonsense	probably null
R5687:Or4p23	UTSW	2	88,577,094 (GRCm39)	missense	probably damaging	1.00
R6074:Or4p23	UTSW	2	88,576,566 (GRCm39)	missense	probably damaging	1.00
R6105:Or4p23	UTSW	2	88,577,184 (GRCm39)	missense	probably benign	0.01
R6781:Or4p23	UTSW	2	88,577,174 (GRCm39)	missense	probably benign	0.01
R8745:Or4p23	UTSW	2	88,576,408 (GRCm39)	missense	possibly damaging	0.79
R9058:Or4p23	UTSW	2	88,577,030 (GRCm39)	missense
R9264:Or4p23	UTSW	2	88,576,776 (GRCm39)	missense	probably damaging	1.00
R9355:Or4p23	UTSW	2	88,576,749 (GRCm39)	missense	probably damaging	0.97
R9660:Or4p23	UTSW	2	88,576,872 (GRCm39)	missense	probably damaging	1.00
Z1088:Or4p23	UTSW	2	88,576,922 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGCTGCTCACTAAGGTG -3'
(R):5'- GCTGTCTGTCAACTTGTGAACTC -3'

Sequencing Primer
(F):5'- TGCTCACTAAGGTGACTGC -3'
(R):5'- GTGAACTCTTATCTCAGTTTGGAAC -3'

Posted On

2016-03-17