Mutagenetix > Incidental Mutation

Incidental Mutation 'R2203:Or4p23'

238811

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

MMRRC Submission

040205-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2203 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88576304-88577230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 88576953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 93 (G93A)

Ref Sequence

ENSEMBL: ENSMUSP00000149844 (fasta)

Gene Model

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

AlphaFold

Q7TR12

Predicted Effect

probably benign
Transcript: ENSMUST00000099814
AA Change: G93A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097402
Gene: ENSMUSG00000075117
AA Change: G93A

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
AA Change: G93A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000215529
AA Change: G93A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abcc5	C	G	16: 20,224,632 (GRCm39)	L44F	possibly damaging	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Brca2	T	A	5: 150,462,967 (GRCm39)	D910E	possibly damaging	Het
Cacna1h	C	T	17: 25,599,234 (GRCm39)	A1742T	probably damaging	Het
Cartpt	A	T	13: 100,037,133 (GRCm39)	S4T	probably benign	Het
Ccdc66	T	A	14: 27,208,790 (GRCm39)	D488V	probably benign	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Clptm1	G	T	7: 19,367,817 (GRCm39)	F598L	possibly damaging	Het
Cntrl	G	A	2: 35,033,749 (GRCm39)	V257I	possibly damaging	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Crebbp	A	C	16: 3,956,641 (GRCm39)	M394R	possibly damaging	Het
Ctnnd1	A	G	2: 84,447,024 (GRCm39)	L407P	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fam184a	T	A	10: 53,528,530 (GRCm39)	Q29L	probably damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gapdh	A	T	6: 125,139,569 (GRCm39)	S165T	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Grik4	T	A	9: 42,458,951 (GRCm39)	S596C	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcr	A	G	13: 96,793,141 (GRCm39)	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Htr5b	T	C	1: 121,455,693 (GRCm39)	T76A	probably damaging	Het
Iars1	A	G	13: 49,876,151 (GRCm39)	E812G	probably benign	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Kcnj5	T	C	9: 32,234,196 (GRCm39)	T40A	probably benign	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Map2k2	T	C	10: 80,955,213 (GRCm39)	S14P	probably damaging	Het
Med26	T	C	8: 73,249,746 (GRCm39)	E451G	probably damaging	Het
Nbeal1	T	A	1: 60,323,165 (GRCm39)	M2081K	probably benign	Het
Nectin4	G	A	1: 171,213,797 (GRCm39)	V433M	possibly damaging	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Pbrm1	A	G	14: 30,754,406 (GRCm39)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Pkd1	G	T	17: 24,799,863 (GRCm39)	A591S	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Rabep1	A	C	11: 70,825,400 (GRCm39)	E689A	probably damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Saxo1	A	C	4: 86,363,998 (GRCm39)	Y162D	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l2	A	T	8: 126,218,366 (GRCm39)	W324R	probably damaging	Het
Slc19a1	T	C	10: 76,877,758 (GRCm39)	C98R	possibly damaging	Het
Slc26a8	G	T	17: 28,866,981 (GRCm39)	L583I	probably benign	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Ttc39a	A	G	4: 109,288,785 (GRCm39)	N293S	probably benign	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Vmn2r104	A	T	17: 20,250,083 (GRCm39)	N729K	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfp712	T	A	13: 67,190,048 (GRCm39)	T160S	probably benign	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
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
R4901:Or4p23	UTSW	2	88,577,231 (GRCm39)	splice site	probably null
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'- TTCATTGGTGCCACAAAAGG -3'
(R):5'- CTGTGGCAACCTGGTTGTTC -3'

Sequencing Primer
(F):5'- TGAGTGTATAAAAGCACCAATAGCTG -3'
(R):5'- CTTATTACTATTAGGGGCAGTCACC -3'

Posted On

2014-10-02