Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02719:Or5h25'

304889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5h25

Ensembl Gene

ENSMUSG00000060057

Gene Name

olfactory receptor family 5 subfamily H member 25

Synonyms

MOR113-7P, MOR183-7P, Olfr1540-ps1, MOR113-7P, GA_x54KRFPKG5P-55338697-55337768, Olfr193

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02719

Quality Score

Status

Chromosome

Chromosomal Location

58929988-58930996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58930536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 146 (T146S)

Ref Sequence

ENSEMBL: ENSMUSP00000146393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076262] [ENSMUST00000207935] [ENSMUST00000208455]

AlphaFold

Q7TS43

Predicted Effect

probably benign
Transcript: ENSMUST00000076262
AA Change: T146S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000075611
Gene: ENSMUSG00000060057
AA Change: T146S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.3e-48	PFAM
Pfam:7tm_1	41	290	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207935

Predicted Effect

probably benign
Transcript: ENSMUST00000208455
AA Change: T146S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,150 (GRCm39)	D160G	probably damaging	Het
Aak1	A	G	6: 86,936,152 (GRCm39)		probably benign	Het
Anp32e	A	G	3: 95,845,224 (GRCm39)		probably benign	Het
Aspscr1	T	A	11: 120,568,405 (GRCm39)	L61Q	probably damaging	Het
Btrc	A	G	19: 45,491,589 (GRCm39)	I89M	probably damaging	Het
Ccdc175	G	A	12: 72,221,899 (GRCm39)	T141M	probably damaging	Het
Cep70	G	A	9: 99,157,775 (GRCm39)	V225I	probably damaging	Het
Cilk1	A	G	9: 78,047,301 (GRCm39)	E67G	probably damaging	Het
Col4a1	T	C	8: 11,281,950 (GRCm39)		probably benign	Het
Cpne1	T	C	2: 155,920,137 (GRCm39)	Y214C	probably damaging	Het
Crtc3	T	C	7: 80,268,406 (GRCm39)		probably null	Het
Cul2	C	T	18: 3,434,052 (GRCm39)	A683V	probably damaging	Het
Ddx47	A	G	6: 134,994,114 (GRCm39)	N131D	probably benign	Het
Dnah7b	T	G	1: 46,138,768 (GRCm39)		probably benign	Het
Dnai2	T	C	11: 114,642,737 (GRCm39)	L446P	probably damaging	Het
Ergic2	T	C	6: 148,106,317 (GRCm39)	T58A	possibly damaging	Het
Erlin2	A	G	8: 27,519,703 (GRCm39)		probably benign	Het
Fermt2	T	C	14: 45,742,113 (GRCm39)	T78A	probably damaging	Het
Flg2	G	T	3: 93,127,438 (GRCm39)	G97*	probably null	Het
Gm7356	A	G	17: 14,221,537 (GRCm39)	I164T	probably damaging	Het
Gucy1a2	T	A	9: 3,894,719 (GRCm39)		probably benign	Het
Heatr5b	C	T	17: 79,122,969 (GRCm39)	R670H	probably damaging	Het
Hspa4l	T	C	3: 40,727,090 (GRCm39)	V476A	possibly damaging	Het
Itpkc	A	T	7: 26,927,475 (GRCm39)	D146E	possibly damaging	Het
Kcnk3	T	C	5: 30,779,324 (GRCm39)	F125L	probably damaging	Het
Kif12	T	A	4: 63,086,033 (GRCm39)	M411L	probably benign	Het
Krtap24-1	T	C	16: 88,409,094 (GRCm39)	S11G	probably benign	Het
Lilra6	A	T	7: 3,915,991 (GRCm39)	H289Q	possibly damaging	Het
Musk	A	C	4: 58,356,496 (GRCm39)	N469H	probably benign	Het
Myom1	A	G	17: 71,413,349 (GRCm39)		probably benign	Het
Nagpa	A	G	16: 5,019,357 (GRCm39)	V46A	possibly damaging	Het
Or4k37	T	A	2: 111,159,590 (GRCm39)	Y275*	probably null	Het
Or8g17	T	C	9: 38,930,312 (GRCm39)	N175S	probably benign	Het
Parp6	T	A	9: 59,538,021 (GRCm39)	V222E	probably benign	Het
Pde3b	T	A	7: 114,105,483 (GRCm39)	S472T	probably damaging	Het
Peak1	A	G	9: 56,134,490 (GRCm39)	S1314P	probably damaging	Het
Pgc	A	G	17: 48,039,792 (GRCm39)	Y62C	probably damaging	Het
Pitpnm2	A	G	5: 124,278,665 (GRCm39)	C189R	probably damaging	Het
Pla2g15	G	T	8: 106,886,828 (GRCm39)	Q106H	probably benign	Het
Pla2g4c	T	A	7: 13,064,019 (GRCm39)	S93T	probably damaging	Het
Rbks	G	T	5: 31,809,145 (GRCm39)		probably benign	Het
Retsat	A	G	6: 72,580,642 (GRCm39)	T207A	possibly damaging	Het
Slc25a32	A	G	15: 38,963,300 (GRCm39)	Y174H	probably benign	Het
Slc35f2	T	A	9: 53,717,026 (GRCm39)		probably benign	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sos2	A	G	12: 69,663,958 (GRCm39)	Y476H	probably benign	Het
Ssh2	A	T	11: 77,316,413 (GRCm39)	N296I	probably damaging	Het
Sspo	G	T	6: 48,459,601 (GRCm39)	R3320L	probably benign	Het
Synj2	A	G	17: 6,047,192 (GRCm39)	I166V	probably benign	Het
Tpp2	T	C	1: 43,979,391 (GRCm39)	V96A	probably benign	Het
Vmn2r3	A	T	3: 64,183,031 (GRCm39)	W223R	probably damaging	Het
Wdr17	T	C	8: 55,146,089 (GRCm39)		probably null	Het
Zfr2	T	A	10: 81,080,546 (GRCm39)	C407S	probably damaging	Het

Other mutations in Or5h25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Or5h25	APN	16	58,930,961 (GRCm39)	missense	probably benign
IGL01613:Or5h25	APN	16	58,930,284 (GRCm39)	missense	probably damaging	1.00
IGL02280:Or5h25	APN	16	58,930,695 (GRCm39)	missense	probably damaging	1.00
IGL02533:Or5h25	APN	16	58,930,047 (GRCm39)	missense	probably benign
IGL02544:Or5h25	APN	16	58,930,507 (GRCm39)	missense	probably damaging	1.00
IGL02576:Or5h25	APN	16	58,930,134 (GRCm39)	missense	probably benign
IGL03215:Or5h25	APN	16	58,930,325 (GRCm39)	missense	possibly damaging	0.46
IGL03272:Or5h25	APN	16	58,930,919 (GRCm39)	missense	probably benign	0.01
PIT4802001:Or5h25	UTSW	16	58,930,964 (GRCm39)	missense	probably benign
R0544:Or5h25	UTSW	16	58,930,588 (GRCm39)	missense	probably benign	0.03
R0783:Or5h25	UTSW	16	58,930,532 (GRCm39)	nonsense	probably null
R1070:Or5h25	UTSW	16	58,930,182 (GRCm39)	missense	probably benign	0.08
R1211:Or5h25	UTSW	16	58,930,523 (GRCm39)	missense	possibly damaging	0.68
R1662:Or5h25	UTSW	16	58,930,967 (GRCm39)	missense	probably benign	0.00
R1754:Or5h25	UTSW	16	58,930,944 (GRCm39)	missense	probably benign	0.03
R1765:Or5h25	UTSW	16	58,930,118 (GRCm39)	missense	probably damaging	1.00
R1937:Or5h25	UTSW	16	58,930,157 (GRCm39)	missense	probably benign	0.11
R2875:Or5h25	UTSW	16	58,930,165 (GRCm39)	missense	probably benign	0.01
R2910:Or5h25	UTSW	16	58,930,544 (GRCm39)	missense	probably benign	0.00
R2911:Or5h25	UTSW	16	58,930,544 (GRCm39)	missense	probably benign	0.00
R5084:Or5h25	UTSW	16	58,930,436 (GRCm39)	missense	possibly damaging	0.90
R5700:Or5h25	UTSW	16	58,930,356 (GRCm39)	missense	probably damaging	0.99
R7018:Or5h25	UTSW	16	58,930,970 (GRCm39)	start codon destroyed	probably null	0.98
R7083:Or5h25	UTSW	16	58,930,400 (GRCm39)	missense	probably damaging	1.00
R7572:Or5h25	UTSW	16	58,930,793 (GRCm39)	missense	probably damaging	1.00
R7720:Or5h25	UTSW	16	58,930,134 (GRCm39)	missense	probably benign
R8045:Or5h25	UTSW	16	58,930,402 (GRCm39)	missense	probably benign	0.01
R8869:Or5h25	UTSW	16	58,930,121 (GRCm39)	missense
R8960:Or5h25	UTSW	16	58,930,555 (GRCm39)	missense	probably benign	0.01
R9045:Or5h25	UTSW	16	58,930,365 (GRCm39)	missense	probably benign	0.13
R9049:Or5h25	UTSW	16	58,930,763 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16