Mutagenetix > Incidental Mutation

Incidental Mutation 'R1439:Or4p23'

160828

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

039494-MU

Accession Numbers

Essential gene?

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

Stock #

R1439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88576304-88577230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88577178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 18 (E18G)

Ref Sequence

ENSEMBL: ENSMUSP00000149844 (fasta)

Gene Model

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

AlphaFold

Q7TR12

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099814
AA Change: E18G

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097402
Gene: ENSMUSG00000075117
AA Change: E18G

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

possibly damaging
Transcript: ENSMUST00000215179
AA Change: E18G

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215529
AA Change: E18G

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,770,908 (GRCm39)	N499S	probably damaging	Het
AI661453	C	A	17: 47,777,587 (GRCm39)		probably benign	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Alkbh1	A	G	12: 87,475,915 (GRCm39)	V289A	probably damaging	Het
Bnc2	C	T	4: 84,194,305 (GRCm39)	E1035K	probably benign	Het
C1s2	T	A	6: 124,607,126 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,492,640 (GRCm39)	I1885T	probably damaging	Het
Col22a1	A	G	15: 71,824,226 (GRCm39)		probably benign	Het
Cpne4	A	T	9: 104,866,831 (GRCm39)	T248S	probably damaging	Het
Cracd	T	C	5: 76,988,757 (GRCm39)	V36A	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Ddx10	T	A	9: 53,151,787 (GRCm39)	K79N	probably damaging	Het
Dennd1a	A	C	2: 37,933,412 (GRCm39)	L131R	probably damaging	Het
Dnah9	T	C	11: 65,764,958 (GRCm39)	Y3862C	probably benign	Het
Eif3e	A	G	15: 43,141,824 (GRCm39)		probably benign	Het
Emsy	T	C	7: 98,250,048 (GRCm39)		probably benign	Het
Ep400	A	T	5: 110,833,344 (GRCm39)	D1959E	unknown	Het
Fpr-rs7	A	G	17: 20,333,869 (GRCm39)	I207T	probably benign	Het
Fubp3	C	A	2: 31,488,563 (GRCm39)	L140I	probably damaging	Het
Gas2l2	T	C	11: 83,318,298 (GRCm39)	D137G	probably damaging	Het
Git1	G	T	11: 77,397,244 (GRCm39)	R699L	possibly damaging	Het
Gnao1	T	A	8: 94,690,065 (GRCm39)	F27L	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Itga6	T	G	2: 71,664,378 (GRCm39)	Y505D	probably damaging	Het
Itgad	A	T	7: 127,782,178 (GRCm39)	T205S	probably benign	Het
Jakmip3	A	T	7: 138,631,375 (GRCm39)	Y574F	probably benign	Het
Laptm5	G	T	4: 130,653,520 (GRCm39)		probably benign	Het
Mlana	A	T	19: 29,684,252 (GRCm39)	R71S	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mus81	G	C	19: 5,535,145 (GRCm39)	R295G	probably benign	Het
Ncapd3	T	A	9: 26,998,862 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,703,396 (GRCm39)	E218G	possibly damaging	Het
Nectin3	A	T	16: 46,268,757 (GRCm39)	Y548*	probably null	Het
Nif3l1	T	C	1: 58,487,102 (GRCm39)	F96S	probably damaging	Het
Ntrk1	A	G	3: 87,696,918 (GRCm39)		probably null	Het
Obsl1	C	A	1: 75,463,428 (GRCm39)	E1755*	probably null	Het
Osbpl9	T	C	4: 108,958,353 (GRCm39)	D74G	probably damaging	Het
Osgin1	T	A	8: 120,169,852 (GRCm39)		probably null	Het
Otogl	A	G	10: 107,615,113 (GRCm39)	Y1931H	probably benign	Het
Pmepa1	A	G	2: 173,069,874 (GRCm39)	I227T	probably benign	Het
Pprc1	T	A	19: 46,052,175 (GRCm39)	N564K	possibly damaging	Het
Prkaa1	T	C	15: 5,194,225 (GRCm39)	F92S	probably damaging	Het
Ptprd	A	G	4: 75,984,437 (GRCm39)	F811L	probably damaging	Het
Rad54b	A	G	4: 11,606,152 (GRCm39)	K520R	possibly damaging	Het
Rbfox1	A	G	16: 7,148,297 (GRCm39)	T269A	possibly damaging	Het
Rfwd3	T	C	8: 112,004,920 (GRCm39)	Y554C	probably damaging	Het
Rfx2	A	T	17: 57,094,720 (GRCm39)	V208E	probably damaging	Het
Rgs22	G	T	15: 36,025,939 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,797,032 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,729,389 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,522,523 (GRCm39)		probably benign	Het
Secisbp2	T	C	13: 51,833,759 (GRCm39)		probably benign	Het
Sgsm2	C	A	11: 74,759,964 (GRCm39)	R58L	probably benign	Het
Slc25a36	A	C	9: 96,975,126 (GRCm39)		probably benign	Het
Spink4	A	G	4: 40,929,121 (GRCm39)	T49A	possibly damaging	Het
Steap3	A	T	1: 120,155,550 (GRCm39)	F470I	probably damaging	Het
Stk10	A	G	11: 32,567,919 (GRCm39)	Q907R	probably damaging	Het
Tdrd5	A	G	1: 156,105,057 (GRCm39)	V446A	probably damaging	Het
Tmem117	G	A	15: 94,992,478 (GRCm39)	M379I	probably benign	Het
Trappc12	A	G	12: 28,797,160 (GRCm39)	L124P	possibly damaging	Het
Trim9	G	A	12: 70,297,867 (GRCm39)	H613Y	probably damaging	Het
Trio	A	G	15: 27,898,000 (GRCm39)	W371R	probably damaging	Het
Ulk4	G	C	9: 121,095,324 (GRCm39)	H110D	possibly damaging	Het
Upb1	T	C	10: 75,275,776 (GRCm39)	V387A	probably benign	Het
Utrn	A	T	10: 12,619,793 (GRCm39)	I284N	possibly damaging	Het
Vmn2r111	C	A	17: 22,790,097 (GRCm39)	W303L	probably benign	Het
Vmn2r15	G	T	5: 109,441,953 (GRCm39)	P160Q	probably damaging	Het
Wdtc1	A	G	4: 133,029,118 (GRCm39)	S323P	probably benign	Het
Zfp846	T	A	9: 20,505,393 (GRCm39)	C418S	possibly damaging	Het
Zfyve26	G	T	12: 79,298,937 (GRCm39)	P441Q	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
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
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'- ACATCTGGGCTATGCAGCCATTG -3'
(R):5'- ACAAAGCCCTTCATGCTGTCTGTC -3'

Sequencing Primer
(F):5'- GCTATGCAGCCATTGTAGGAG -3'
(R):5'- ATGCTGTCTGTCAACTTGTGAAC -3'

Posted On

2014-03-14