Mutagenetix > Incidental Mutation

Incidental Mutation 'R7020:Or5g23'

545553

Institutional Source

Beutler Lab

Gene Symbol

Or5g23

Ensembl Gene

ENSMUSG00000075215

Gene Name

olfactory receptor family 5 subfamily G member 23

Synonyms

MOR175-9, Olfr1000, GA_x6K02T2Q125-47087719-47086775

MMRRC Submission

045121-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85438308-85439252 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85438976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 93 (S93P)

Ref Sequence

ENSEMBL: ENSMUSP00000150731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099921] [ENSMUST00000213837] [ENSMUST00000216571]

AlphaFold

Q7TR99

Predicted Effect

probably benign
Transcript: ENSMUST00000099921
AA Change: S93P

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097505
Gene: ENSMUSG00000075215
AA Change: S93P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.1e-49	PFAM
Pfam:7tm_1	41	290	2.9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213837
AA Change: S93P

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216571
AA Change: S93P

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,634,975 (GRCm39)	G188R	probably damaging	Het
Abhd3	T	C	18: 10,645,127 (GRCm39)	Y384C	probably damaging	Het
Cd209b	T	A	8: 3,968,783 (GRCm39)	E282V	probably damaging	Het
Cep350	A	C	1: 155,804,077 (GRCm39)	L1002W	probably damaging	Het
Clcn1	T	C	6: 42,275,754 (GRCm39)	V292A	probably damaging	Het
Clcn7	T	C	17: 25,365,325 (GRCm39)	I107T	possibly damaging	Het
Cntrob	A	G	11: 69,193,918 (GRCm39)		probably null	Het
Crb1	A	T	1: 139,159,341 (GRCm39)	S1294T	possibly damaging	Het
Cst13	T	G	2: 148,665,129 (GRCm39)	Y41*	probably null	Het
Gp1ba	A	G	11: 70,531,139 (GRCm39)		probably benign	Het
Gucy2e	A	T	11: 69,123,619 (GRCm39)	L427I	probably benign	Het
Gucy2g	A	G	19: 55,221,482 (GRCm39)	S340P	probably damaging	Het
Herc1	A	G	9: 66,393,360 (GRCm39)	T4080A	probably benign	Het
Iglon5	A	T	7: 43,126,319 (GRCm39)	C195S	probably damaging	Het
Itgae	A	G	11: 73,002,195 (GRCm39)	T100A	probably damaging	Het
Jarid2	C	T	13: 45,038,300 (GRCm39)	S205L	probably damaging	Het
Macrod2	A	T	2: 142,231,795 (GRCm39)	*424C	probably null	Het
Map2k6	A	T	11: 110,397,540 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,570,628 (GRCm39)	K563*	probably null	Het
Myh7b	T	C	2: 155,473,671 (GRCm39)	I1568T	possibly damaging	Het
Myo15b	G	A	11: 115,757,493 (GRCm39)	W1114*	probably null	Het
Mypn	T	C	10: 63,028,289 (GRCm39)	Y258C	probably damaging	Het
Notch1	T	C	2: 26,371,586 (GRCm39)	T288A	possibly damaging	Het
Npc1	C	T	18: 12,331,594 (GRCm39)	G859R	probably damaging	Het
Olfm2	T	A	9: 20,579,864 (GRCm39)	R326W	probably damaging	Het
Or2a7	T	C	6: 43,151,096 (GRCm39)	Y59H	possibly damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Ovol1	G	A	19: 5,610,261 (GRCm39)	P23L	probably damaging	Het
Pappa2	C	A	1: 158,675,579 (GRCm39)	V1056F	probably damaging	Het
Pik3ca	T	C	3: 32,490,428 (GRCm39)	L25S	probably damaging	Het
Pla2r1	T	C	2: 60,277,743 (GRCm39)	H860R	possibly damaging	Het
Pms1	A	T	1: 53,228,541 (GRCm39)	H902Q	probably damaging	Het
Ptgs1	T	G	2: 36,141,041 (GRCm39)	L496R	probably damaging	Het
Ralgapa2	A	T	2: 146,188,638 (GRCm39)	Y1381*	probably null	Het
Rtl1	T	C	12: 109,558,749 (GRCm39)	Q1030R	possibly damaging	Het
Ryr3	T	A	2: 112,583,423 (GRCm39)	Y2816F	probably benign	Het
Sh2b2	T	C	5: 136,253,153 (GRCm39)	T340A	possibly damaging	Het
Slc30a5	T	A	13: 100,961,421 (GRCm39)		probably null	Het
Spta1	T	C	1: 174,036,918 (GRCm39)	L1143P	probably damaging	Het
St8sia5	T	C	18: 77,333,876 (GRCm39)	I178T	probably damaging	Het
Tap2	A	G	17: 34,433,388 (GRCm39)	N517S	possibly damaging	Het
Tcp11	A	G	17: 28,290,679 (GRCm39)	Y227H	possibly damaging	Het
Usp34	A	G	11: 23,343,954 (GRCm39)	D1411G	probably benign	Het
Vmn2r105	A	G	17: 20,429,336 (GRCm39)	L580P	probably damaging	Het
Wdr19	A	G	5: 65,413,657 (GRCm39)	E1200G	probably damaging	Het
Xirp2	T	C	2: 67,355,913 (GRCm39)	V3558A	probably benign	Het
Xpo7	T	C	14: 70,903,463 (GRCm39)	N1082S	probably benign	Het
Zbtb49	A	T	5: 38,370,711 (GRCm39)	L390*	probably null	Het
Zfp639	C	A	3: 32,574,261 (GRCm39)	D295E	probably damaging	Het

Other mutations in Or5g23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Or5g23	APN	2	85,439,105 (GRCm39)	missense	probably benign
IGL01872:Or5g23	APN	2	85,438,673 (GRCm39)	missense	probably benign
IGL01955:Or5g23	APN	2	85,439,051 (GRCm39)	missense	probably benign	0.12
IGL02132:Or5g23	APN	2	85,438,664 (GRCm39)	missense	probably benign	0.00
IGL02139:Or5g23	APN	2	85,438,574 (GRCm39)	nonsense	probably null
IGL02717:Or5g23	APN	2	85,439,116 (GRCm39)	missense	probably damaging	1.00
IGL02950:Or5g23	APN	2	85,438,501 (GRCm39)	missense	possibly damaging	0.92
R1866:Or5g23	UTSW	2	85,439,188 (GRCm39)	missense	probably benign	0.05
R1868:Or5g23	UTSW	2	85,438,409 (GRCm39)	missense	probably damaging	0.98
R1869:Or5g23	UTSW	2	85,438,844 (GRCm39)	missense	probably benign	0.23
R2256:Or5g23	UTSW	2	85,438,807 (GRCm39)	missense	possibly damaging	0.81
R2919:Or5g23	UTSW	2	85,438,754 (GRCm39)	missense	probably benign	0.06
R4736:Or5g23	UTSW	2	85,438,327 (GRCm39)	missense	probably benign
R5197:Or5g23	UTSW	2	85,438,791 (GRCm39)	missense	probably benign	0.01
R5256:Or5g23	UTSW	2	85,438,817 (GRCm39)	missense	probably benign
R5367:Or5g23	UTSW	2	85,438,718 (GRCm39)	missense	probably damaging	0.99
R5389:Or5g23	UTSW	2	85,438,627 (GRCm39)	missense	probably benign
R6991:Or5g23	UTSW	2	85,438,592 (GRCm39)	missense	possibly damaging	0.76
R7017:Or5g23	UTSW	2	85,438,673 (GRCm39)	missense	probably benign
R7352:Or5g23	UTSW	2	85,439,128 (GRCm39)	missense	probably damaging	1.00
R7392:Or5g23	UTSW	2	85,438,832 (GRCm39)	missense	possibly damaging	0.61
R7586:Or5g23	UTSW	2	85,438,528 (GRCm39)	missense	probably damaging	0.99
R7727:Or5g23	UTSW	2	85,438,751 (GRCm39)	missense	possibly damaging	0.72
R8053:Or5g23	UTSW	2	85,439,234 (GRCm39)	missense	probably damaging	0.98
R8108:Or5g23	UTSW	2	85,439,093 (GRCm39)	missense	possibly damaging	0.94
R9332:Or5g23	UTSW	2	85,438,331 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAAAAGGTCAAAGTTGTGTGTATC -3'
(R):5'- CGTGGCATTACAGATAACCTCC -3'

Sequencing Primer
(F):5'- GGTCAAAGTTGTGTGTATCATTGTAC -3'
(R):5'- GTGGCATTACAGATAACCTCCATCAG -3'

Posted On

2019-05-13