Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Or5h25'

595195

Institutional Source

Beutler Lab

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

MMRRC Submission

067892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59107924-59111881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59109771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 280 (I280V)

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: I280V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075611
Gene: ENSMUSG00000060057
AA Change: I280V

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: I280V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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
4921530L21Rik	A	G	14: 95,882,112 (GRCm38)	R102G	probably benign	Het
Agap2	A	G	10: 127,091,088 (GRCm38)	D1018G	probably damaging	Het
Atm	T	C	9: 53,522,239 (GRCm38)	N237S	possibly damaging	Het
Card6	G	T	15: 5,098,423 (GRCm38)	Q1164K	unknown	Het
Cped1	G	A	6: 22,222,431 (GRCm38)	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108 (GRCm38)	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044 (GRCm38)	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975 (GRCm38)	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090 (GRCm38)	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257 (GRCm38)	S342P	probably damaging	Het
Garin2	T	C	12: 78,712,133 (GRCm38)	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959 (GRCm38)	I129V	probably benign	Het
Gria4	A	T	9: 4,464,288 (GRCm38)	V558D	probably damaging	Het
Gsdme	C	T	6: 50,229,308 (GRCm38)	G185E	probably damaging	Het
Hapstr1	T	A	16: 8,843,102 (GRCm38)	C148S	probably damaging	Het
Hgd	T	A	16: 37,593,435 (GRCm38)	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709 (GRCm38)	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022 (GRCm38)	N127D	probably damaging	Het
Ilf3	A	G	9: 21,399,537 (GRCm38)	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,868,083 (GRCm38)	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908 (GRCm38)	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,182,355 (GRCm38)	V1670A	probably benign	Het
Lman2	A	T	13: 55,353,077 (GRCm38)		probably null	Het
Ltbp1	A	T	17: 75,385,124 (GRCm38)	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588 (GRCm38)	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537 (GRCm38)	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330 (GRCm38)	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303 (GRCm38)	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488 (GRCm38)	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023 (GRCm38)	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921 (GRCm38)	S188N	probably damaging	Het
Olfr709-ps1	C	A	7: 106,927,411 (GRCm38)	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940 (GRCm38)	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174 (GRCm38)	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857 (GRCm38)	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218 (GRCm38)	P5A	probably damaging	Het
Plekha6	T	C	1: 133,293,707 (GRCm38)	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489 (GRCm38)	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937 (GRCm38)	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,861,335 (GRCm38)	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703 (GRCm38)	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015 (GRCm38)	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430 (GRCm38)	Y325C	possibly damaging	Het
Semp2l1	T	C	1: 32,546,097 (GRCm38)	D244G	probably benign	Het
Shcbp1	A	C	8: 4,748,720 (GRCm38)	S400A	probably damaging	Het
Shfl	C	T	9: 20,868,859 (GRCm38)		probably benign	Het
Sirpb1c	T	A	3: 15,832,072 (GRCm38)	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475 (GRCm38)	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532 (GRCm38)	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461 (GRCm38)	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703 (GRCm38)	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356 (GRCm38)	Q29L	probably benign	Het
Wipi1	G	T	11: 109,582,423 (GRCm38)	S250Y	probably damaging	Het

Other mutations in Or5h25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Or5h25	APN	16	59,110,598 (GRCm38)	missense	probably benign
IGL01613:Or5h25	APN	16	59,109,921 (GRCm38)	missense	probably damaging	1.00
IGL02280:Or5h25	APN	16	59,110,332 (GRCm38)	missense	probably damaging	1.00
IGL02533:Or5h25	APN	16	59,109,684 (GRCm38)	missense	probably benign
IGL02544:Or5h25	APN	16	59,110,144 (GRCm38)	missense	probably damaging	1.00
IGL02576:Or5h25	APN	16	59,109,771 (GRCm38)	missense	probably benign
IGL02719:Or5h25	APN	16	59,110,173 (GRCm38)	missense	probably benign	0.01
IGL03215:Or5h25	APN	16	59,109,962 (GRCm38)	missense	possibly damaging	0.46
IGL03272:Or5h25	APN	16	59,110,556 (GRCm38)	missense	probably benign	0.01
PIT4802001:Or5h25	UTSW	16	59,110,601 (GRCm38)	missense	probably benign
R0544:Or5h25	UTSW	16	59,110,225 (GRCm38)	missense	probably benign	0.03
R0783:Or5h25	UTSW	16	59,110,169 (GRCm38)	nonsense	probably null
R1070:Or5h25	UTSW	16	59,109,819 (GRCm38)	missense	probably benign	0.08
R1211:Or5h25	UTSW	16	59,110,160 (GRCm38)	missense	possibly damaging	0.68
R1662:Or5h25	UTSW	16	59,110,604 (GRCm38)	missense	probably benign	0.00
R1754:Or5h25	UTSW	16	59,110,581 (GRCm38)	missense	probably benign	0.03
R1765:Or5h25	UTSW	16	59,109,755 (GRCm38)	missense	probably damaging	1.00
R1937:Or5h25	UTSW	16	59,109,794 (GRCm38)	missense	probably benign	0.11
R2875:Or5h25	UTSW	16	59,109,802 (GRCm38)	missense	probably benign	0.01
R2910:Or5h25	UTSW	16	59,110,181 (GRCm38)	missense	probably benign	0.00
R2911:Or5h25	UTSW	16	59,110,181 (GRCm38)	missense	probably benign	0.00
R5084:Or5h25	UTSW	16	59,110,073 (GRCm38)	missense	possibly damaging	0.90
R5700:Or5h25	UTSW	16	59,109,993 (GRCm38)	missense	probably damaging	0.99
R7018:Or5h25	UTSW	16	59,110,607 (GRCm38)	start codon destroyed	probably null	0.98
R7083:Or5h25	UTSW	16	59,110,037 (GRCm38)	missense	probably damaging	1.00
R7572:Or5h25	UTSW	16	59,110,430 (GRCm38)	missense	probably damaging	1.00
R8045:Or5h25	UTSW	16	59,110,039 (GRCm38)	missense	probably benign	0.01
R8869:Or5h25	UTSW	16	59,109,758 (GRCm38)	missense
R8960:Or5h25	UTSW	16	59,110,192 (GRCm38)	missense	probably benign	0.01
R9045:Or5h25	UTSW	16	59,110,002 (GRCm38)	missense	probably benign	0.13
R9049:Or5h25	UTSW	16	59,110,400 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAAGAGGATTGCTGTGGTTC -3'
(R):5'- CTGGCTCAATTCAGGTATTCAC -3'

Sequencing Primer
(F):5'- GAATATGCAGGACATTTGACCTCCTC -3'
(R):5'- GGCTCAATTCAGGTATTCACAATTAC -3'

Posted On

2019-11-12