Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Or5g23'

595540

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

045783-MU

Accession Numbers

Essential gene?

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

Stock #

R7727 (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 85438751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 168 (F168L)

Ref Sequence

ENSEMBL: ENSMUSP00000149982 (fasta)

Gene Model

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

AlphaFold

Q7TR99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099921
AA Change: F168L

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097505
Gene: ENSMUSG00000075215
AA Change: F168L

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

possibly damaging
Transcript: ENSMUST00000213837
AA Change: F168L

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216571
AA Change: F168L

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	T	16: 85,696,854 (GRCm39)	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,746,007 (GRCm39)	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,678,346 (GRCm39)	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,202,148 (GRCm39)	F118Y	probably benign	Het
Bcl6	A	G	16: 23,790,163 (GRCm39)		probably null	Het
Cc2d2b	T	A	19: 40,744,974 (GRCm39)	L31Q	probably benign	Het
Cd5l	G	T	3: 87,275,162 (GRCm39)	E234*	probably null	Het
Cemip2	C	T	19: 21,807,321 (GRCm39)	L917F	probably benign	Het
Cfap65	T	C	1: 74,965,784 (GRCm39)	T409A	probably benign	Het
Chst5	A	T	8: 112,617,557 (GRCm39)	I21N	probably benign	Het
Cldn20	T	C	17: 3,583,030 (GRCm39)	Y68H	probably benign	Het
Col4a4	T	C	1: 82,506,514 (GRCm39)	M269V	unknown	Het
Dgkh	A	G	14: 78,832,585 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,656,242 (GRCm39)	T166A	probably benign	Het
Drosha	A	G	15: 12,881,731 (GRCm39)	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,987,326 (GRCm39)	K350N	probably damaging	Het
Fsd1	T	G	17: 56,295,150 (GRCm39)	D46E	probably benign	Het
Gabra1	T	C	11: 42,024,418 (GRCm39)	D419G	probably damaging	Het
Golga4	T	A	9: 118,377,770 (GRCm39)	D458E	probably damaging	Het
Grm6	C	A	11: 50,742,369 (GRCm39)	A134E	probably benign	Het
Ikzf1	T	A	11: 11,698,339 (GRCm39)	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,412,500 (GRCm39)	V74I	probably benign	Het
Kcng2	C	T	18: 80,339,305 (GRCm39)	V328M	probably benign	Het
Kpna7	T	C	5: 144,941,855 (GRCm39)	E145G	probably benign	Het
Krt81	A	G	15: 101,357,448 (GRCm39)	V428A	probably damaging	Het
Lalba	T	C	15: 98,380,549 (GRCm39)	M2V	probably benign	Het
Lrpprc	T	C	17: 85,084,375 (GRCm39)	S113G	probably benign	Het
Mboat1	A	C	13: 30,410,289 (GRCm39)	M249L	probably benign	Het
Meltf	T	C	16: 31,702,612 (GRCm39)	V113A	probably damaging	Het
Muc16	T	A	9: 18,571,538 (GRCm39)	H327L	unknown	Het
Myh1	A	G	11: 67,106,748 (GRCm39)	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Naga	C	A	15: 82,214,348 (GRCm39)	V388L	probably benign	Het
Nfkb1	A	C	3: 135,291,162 (GRCm39)	M957R	possibly damaging	Het
Nol12	C	A	15: 78,824,793 (GRCm39)	S157*	probably null	Het
Or13c25	A	G	4: 52,911,368 (GRCm39)	V142A	possibly damaging	Het
Or8u3-ps	A	T	2: 85,952,840 (GRCm39)	D191V	possibly damaging	Het
Pcdhga5	T	C	18: 37,828,098 (GRCm39)	V182A	probably benign	Het
Pik3r4	A	G	9: 105,547,081 (GRCm39)	E953G	probably damaging	Het
Piwil2	C	T	14: 70,631,506 (GRCm39)	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,779,971 (GRCm39)	H157R	probably damaging	Het
Prrg4	A	T	2: 104,669,723 (GRCm39)	F131L	probably benign	Het
Prss3b	C	A	6: 41,010,127 (GRCm39)	R69L	probably benign	Het
Rab28	A	G	5: 41,865,313 (GRCm39)	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,291,260 (GRCm39)	Q209K	probably benign	Het
Schip1	G	A	3: 67,972,317 (GRCm39)	D15N	probably benign	Het
Serpina3f	T	G	12: 104,184,477 (GRCm39)	M207R	probably benign	Het
Sgsm1	A	T	5: 113,422,193 (GRCm39)	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 62,122,651 (GRCm39)	I471F	probably benign	Het
Slamf1	G	A	1: 171,602,467 (GRCm39)	V65I	possibly damaging	Het
Slit3	T	C	11: 35,574,871 (GRCm39)	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,263,446 (GRCm39)	K344N	probably damaging	Het
Sorl1	A	G	9: 41,895,822 (GRCm39)	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,373,019 (GRCm39)	R228C	probably damaging	Het
Sv2c	A	G	13: 96,113,203 (GRCm39)	I582T	possibly damaging	Het
Tamm41	C	T	6: 114,993,139 (GRCm39)	V205M	probably damaging	Het
Trpm2	T	C	10: 77,761,623 (GRCm39)	D1009G	probably benign	Het
Trpm6	T	C	19: 18,831,613 (GRCm39)	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,923,731 (GRCm39)	V147I	possibly damaging	Het
Tut7	A	G	13: 59,947,496 (GRCm39)	F942L	probably benign	Het
Uba2	C	T	7: 33,850,275 (GRCm39)	A393T	probably damaging	Het
Ubn2	T	A	6: 38,440,873 (GRCm39)	N416K	probably benign	Het
Uevld	T	C	7: 46,593,553 (GRCm39)	N233S	probably benign	Het
Upp2	G	A	2: 58,664,160 (GRCm39)	M142I	possibly damaging	Het
Vps52	T	A	17: 34,181,108 (GRCm39)	V450D	probably benign	Het
Wdr31	A	T	4: 62,378,873 (GRCm39)	F118Y	probably damaging	Het
Zfp110	T	A	7: 12,582,922 (GRCm39)	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,293,457 (GRCm39)	V143D	probably damaging	Het
Zfp950	T	C	19: 61,108,379 (GRCm39)	I235V	probably benign	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
R7020:Or5g23	UTSW	2	85,438,976 (GRCm39)	missense	probably benign	0.11
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
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'- AGCGACAGTCACCAAGTGAG -3'
(R):5'- ACTGAATGCTTTCTCCTGGC -3'

Sequencing Primer
(F):5'- GGCTGTCTGAATCTTCAAAATTGCC -3'
(R):5'- TCTCCTGGCTGCCATGG -3'

Posted On

2019-11-12