Mutagenetix > Incidental Mutation

Incidental Mutation 'R6074:Or4p23'

482623

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

044235-MU

Accession Numbers

Essential gene?

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

Stock #

R6074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88576304-88577230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88576566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 222 (L222R)

Ref Sequence

ENSEMBL: ENSMUSP00000149844 (fasta)

Gene Model

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

AlphaFold

Q7TR12

Predicted Effect

probably damaging
Transcript: ENSMUST00000099814
AA Change: L222R

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

SMART Domains

Protein: ENSMUSP00000097402
Gene: ENSMUSG00000075117
AA Change: L222R

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 damaging
Transcript: ENSMUST00000215179
AA Change: L222R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215529
AA Change: L222R

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

97% (61/63)

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
Amigo1	T	A	3: 108,099,009 (GRCm39)	C189*	probably null	Het
Auts2	G	T	5: 131,505,828 (GRCm39)		probably benign	Het
Cadps2	C	A	6: 23,626,670 (GRCm39)	W177L	probably damaging	Het
Camk2b	G	T	11: 5,939,635 (GRCm39)	P223Q	probably damaging	Het
Ccdc74a	C	A	16: 17,464,591 (GRCm39)	S9*	probably null	Het
Ccnt1	A	C	15: 98,441,205 (GRCm39)	Y688D	probably damaging	Het
Cdhr1	T	C	14: 36,801,600 (GRCm39)	N781S	probably benign	Het
Ceacam3	C	T	7: 16,885,484 (GRCm39)	T29I	probably benign	Het
Cep170b	T	C	12: 112,710,589 (GRCm39)	S1473P	probably damaging	Het
Col19a1	T	A	1: 24,565,564 (GRCm39)	T256S	unknown	Het
Eif2d	T	A	1: 131,094,079 (GRCm39)	D423E	probably damaging	Het
Fam13a	A	G	6: 58,966,723 (GRCm39)		probably null	Het
Gaa	G	A	11: 119,175,012 (GRCm39)	R871H	probably benign	Het
Galnt12	T	A	4: 47,112,405 (GRCm39)	V37D	probably damaging	Het
Glp2r	A	G	11: 67,637,640 (GRCm39)	S13P	unknown	Het
Gnptab	C	T	10: 88,268,940 (GRCm39)	L548F	probably damaging	Het
Heg1	C	T	16: 33,547,573 (GRCm39)	P787S	possibly damaging	Het
Hivep2	T	A	10: 14,007,485 (GRCm39)	M1361K	probably benign	Het
Hivep3	T	C	4: 119,954,891 (GRCm39)	I1069T	possibly damaging	Het
Hspg2	A	G	4: 137,268,046 (GRCm39)	D2121G	probably benign	Het
Htatip2	A	G	7: 49,422,322 (GRCm39)		probably null	Het
Ighv1-75	T	C	12: 115,798,007 (GRCm39)	S4G	probably benign	Het
Ip6k1	A	G	9: 107,901,308 (GRCm39)		probably benign	Het
Kcna6	A	G	6: 126,716,242 (GRCm39)	S216P	probably benign	Het
Kif21a	T	A	15: 90,865,095 (GRCm39)	T526S	probably benign	Het
Kng2	C	T	16: 22,819,346 (GRCm39)	G230D	probably benign	Het
Lgi2	A	T	5: 52,703,984 (GRCm39)	F216I	probably benign	Het
Lratd1	G	A	12: 14,200,512 (GRCm39)	H72Y	probably benign	Het
Lss	T	A	10: 76,379,693 (GRCm39)	N383K	probably damaging	Het
Mical1	T	C	10: 41,362,061 (GRCm39)	M929T	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nat8f4	A	G	6: 85,878,169 (GRCm39)	V118A	probably damaging	Het
Or10j5	T	A	1: 172,784,945 (GRCm39)	N194K	probably benign	Het
Or6b2	G	A	1: 92,407,497 (GRCm39)	T282M	probably benign	Het
Osbpl11	T	A	16: 33,030,335 (GRCm39)	S188T	probably benign	Het
Pea15a	C	T	1: 172,026,752 (GRCm39)	R85H	possibly damaging	Het
Ppp1r13b	A	G	12: 111,798,836 (GRCm39)	I919T	probably damaging	Het
Rasgrf1	A	G	9: 89,835,968 (GRCm39)	D232G	probably benign	Het
Rp1	A	G	1: 4,415,602 (GRCm39)	S1837P	probably benign	Het
Samd5	T	A	10: 9,550,334 (GRCm39)	Y125F	possibly damaging	Het
Skint5	T	C	4: 113,662,397 (GRCm39)	T597A	unknown	Het
Slc25a12	A	G	2: 71,106,798 (GRCm39)	F605L	probably benign	Het
Slc39a12	C	T	2: 14,412,290 (GRCm39)	Q321*	probably null	Het
Slc6a19	T	C	13: 73,837,882 (GRCm39)	S206G	probably benign	Het
Tacc2	T	A	7: 130,227,165 (GRCm39)	H1283Q	possibly damaging	Het
Thumpd3	A	G	6: 113,036,971 (GRCm39)	E290G	possibly damaging	Het
Timd2	C	T	11: 46,577,999 (GRCm39)	G44D	possibly damaging	Het
Tmem74	A	G	15: 43,730,134 (GRCm39)	V303A	possibly damaging	Het
Tpo	A	G	12: 30,128,186 (GRCm39)	V785A	probably benign	Het
Tpra1	T	A	6: 88,888,919 (GRCm39)	I367N	possibly damaging	Het
Txnrd2	T	C	16: 18,256,297 (GRCm39)	I95T	probably damaging	Het
Usp32	A	G	11: 84,885,399 (GRCm39)	V1216A	probably benign	Het
Usp54	C	A	14: 20,602,167 (GRCm39)	M1394I	probably benign	Het
Vmn2r13	A	G	5: 109,322,167 (GRCm39)	F177L	probably benign	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Wdfy4	C	T	14: 32,805,596 (GRCm39)		probably null	Het
Wnk2	A	T	13: 49,204,875 (GRCm39)	C458S	probably damaging	Het
Xkr6	T	G	14: 63,844,519 (GRCm39)	F181V	possibly damaging	Het
Zfp212	T	A	6: 47,903,986 (GRCm39)	C149*	probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp661	A	G	2: 127,419,793 (GRCm39)	S116P	probably benign	Het
Zfp770	A	G	2: 114,026,870 (GRCm39)	Y400H	possibly 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
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
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'- AGTTTGTCTTGGCACCACAC -3'
(R):5'- TGTGGCACCAATGAAATAGACC -3'

Posted On

2017-07-14