Mutagenetix > Incidental Mutation

Incidental Mutation 'R1706:Or4p23'

190049

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

039739-MU

Accession Numbers

Essential gene?

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

Stock #

R1706 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88576304-88577230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88576482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 250 (P250L)

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: P250L

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

SMART Domains

Protein: ENSMUSP00000097402
Gene: ENSMUSG00000075117
AA Change: P250L

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: P250L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215529
AA Change: P250L

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

Meta Mutation Damage Score

0.4783

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (60/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,624,059 (GRCm39)		probably benign	Het
4931406C07Rik	G	A	9: 15,209,153 (GRCm39)	T47I	probably damaging	Het
Adcy2	T	A	13: 68,868,865 (GRCm39)	N558I	probably damaging	Het
Ago3	G	A	4: 126,264,085 (GRCm39)	P374S	probably damaging	Het
Ak8	T	C	2: 28,650,007 (GRCm39)	C345R	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
BC005624	T	C	2: 30,868,922 (GRCm39)	E84G	possibly damaging	Het
Cav1	T	C	6: 17,339,181 (GRCm39)	F89L	probably damaging	Het
Cfap206	G	A	4: 34,688,875 (GRCm39)	P593L	probably damaging	Het
Clcn6	G	A	4: 148,102,025 (GRCm39)	T353I	probably benign	Het
Cstl1	G	A	2: 148,593,079 (GRCm39)		probably null	Het
Cyp2d10	A	C	15: 82,289,783 (GRCm39)	S140A	probably damaging	Het
D130052B06Rik	G	A	11: 33,566,230 (GRCm39)	R18H	unknown	Het
Ddi2	A	G	4: 141,411,308 (GRCm39)	F535L	probably benign	Het
Dop1a	C	T	9: 86,436,133 (GRCm39)	T2383M	possibly damaging	Het
Duox1	A	G	2: 122,149,953 (GRCm39)	T115A	probably benign	Het
Ercc6l2	T	A	13: 64,020,272 (GRCm39)		probably benign	Het
Gm7052	A	G	17: 22,258,823 (GRCm39)		probably benign	Het
Gm9925	G	A	18: 74,198,573 (GRCm39)		probably benign	Het
Gnas	T	A	2: 174,141,768 (GRCm39)	S646T	possibly damaging	Het
Gpatch3	T	A	4: 133,302,484 (GRCm39)	C138*	probably null	Het
Igsf8	C	T	1: 172,144,972 (GRCm39)	R100C	probably damaging	Het
Kcnh3	A	G	15: 99,135,959 (GRCm39)	K652R	possibly damaging	Het
Kcnn4	T	A	7: 24,074,167 (GRCm39)	V77E	probably damaging	Het
Kif13b	T	A	14: 64,998,115 (GRCm39)		probably benign	Het
Lca5l	T	C	16: 95,977,164 (GRCm39)	N214S	probably benign	Het
Luc7l3	T	C	11: 94,188,582 (GRCm39)		probably benign	Het
Lypd3	T	C	7: 24,339,755 (GRCm39)	I274T	probably benign	Het
Macf1	A	G	4: 123,264,377 (GRCm39)		probably null	Het
Mchr1	A	G	15: 81,121,364 (GRCm39)	Y38C	probably damaging	Het
Mia2	T	A	12: 59,191,552 (GRCm39)	L716*	probably null	Het
Mki67	A	G	7: 135,302,295 (GRCm39)	L913P	probably benign	Het
Mug2	T	A	6: 122,013,191 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,472,563 (GRCm39)	L58P	probably damaging	Het
Or8h9	A	T	2: 86,789,424 (GRCm39)	I126N	probably damaging	Het
Pak1ip1	T	C	13: 41,166,164 (GRCm39)	V363A	probably benign	Het
Pcdhb16	A	G	18: 37,612,705 (GRCm39)	D555G	probably benign	Het
Pygb	G	A	2: 150,669,067 (GRCm39)	G671D	probably damaging	Het
Rab30	A	T	7: 92,478,875 (GRCm39)	I79L	possibly damaging	Het
Rab44	C	A	17: 29,357,080 (GRCm39)	T70K	probably damaging	Het
Rccd1	C	G	7: 79,970,411 (GRCm39)	G69R	possibly damaging	Het
Sema5b	T	C	16: 35,470,125 (GRCm39)	V329A	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slc22a14	T	C	9: 119,010,050 (GRCm39)	N15S	probably benign	Het
Smurf2	G	A	11: 106,715,573 (GRCm39)	H632Y	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tgm6	T	C	2: 129,987,079 (GRCm39)	C516R	possibly damaging	Het
Tmprss9	T	C	10: 80,734,021 (GRCm39)		probably benign	Het
Trim67	A	G	8: 125,521,160 (GRCm39)	N174S	probably damaging	Het
Ttc8	C	A	12: 98,910,142 (GRCm39)	T123K	probably benign	Het
Ugt1a7c	T	A	1: 88,023,447 (GRCm39)	M202K	probably damaging	Het
Vmn2r7	T	A	3: 64,598,880 (GRCm39)	H559L	possibly damaging	Het
Zfp511	A	G	7: 139,617,192 (GRCm39)	D96G	probably benign	Het
Zfp868	A	G	8: 70,065,060 (GRCm39)	Y92H	probably benign	Het
Zzz3	T	A	3: 152,154,735 (GRCm39)	D633E	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
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'- ACAGTTTGTCTTGGCACCACACC -3'
(R):5'- AGACTTCCCTTTTGTGGCACCAATG -3'

Sequencing Primer
(F):5'- ACCACACCTTCCTCATGGC -3'
(R):5'- TGAAACTGGCCTGCACAG -3'

Posted On

2014-05-14