Mutagenetix > Incidental Mutation

Incidental Mutation 'R7590:Or5p1'

587355

Institutional Source

Beutler Lab

Gene Symbol

Or5p1

Ensembl Gene

ENSMUSG00000094612

Gene Name

olfactory receptor family 5 subfamily P member 1

Synonyms

MOR204-11, GA_x6K02T2PBJ9-10646917-10647849, Olfr491

MMRRC Submission

045669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7590 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107916103-107917035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107916386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 95 (H95L)

Ref Sequence

ENSEMBL: ENSMUSP00000150694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053179] [ENSMUST00000209545] [ENSMUST00000214605]

AlphaFold

Q8VG06

Predicted Effect

probably benign
Transcript: ENSMUST00000053179
AA Change: H95L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061188
Gene: ENSMUSG00000094612
AA Change: H95L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.4e-50	PFAM
Pfam:7tm_1	41	290	5.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209545
AA Change: H95L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000214605
AA Change: H95L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

98% (48/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,341 (GRCm39)	T1373S	probably damaging	Het
Bbox1	A	T	2: 110,098,577 (GRCm39)	N333K	probably benign	Het
Bcl11b	T	A	12: 107,969,402 (GRCm39)	M1L	probably benign	Het
C1s2	T	A	6: 124,609,087 (GRCm39)	I157F	probably damaging	Het
Casp1	T	A	9: 5,306,710 (GRCm39)	M384K	probably damaging	Het
Chpt1	A	G	10: 88,316,688 (GRCm39)	S257P	probably damaging	Het
Dennd4a	G	A	9: 64,795,869 (GRCm39)	G731D	probably benign	Het
Dlk2	A	T	17: 46,609,609 (GRCm39)	S21C	probably benign	Het
Ell2	T	C	13: 75,918,854 (GRCm39)	L620P	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fip1l1	T	C	5: 74,752,435 (GRCm39)	V414A	probably benign	Het
Fmo1	T	A	1: 162,687,251 (GRCm39)		probably benign	Het
Fyb2	A	G	4: 104,802,443 (GRCm39)	N115S	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Hecw1	A	G	13: 14,438,668 (GRCm39)	V905A	probably damaging	Het
Ireb2	T	A	9: 54,803,779 (GRCm39)	V490D	probably benign	Het
Itprid2	G	T	2: 79,488,454 (GRCm39)	V846F	possibly damaging	Het
Lbr	A	G	1: 181,649,076 (GRCm39)	S348P	probably damaging	Het
Loxhd1	T	A	18: 77,409,330 (GRCm39)	D191E	possibly damaging	Het
Mlip	A	T	9: 77,137,325 (GRCm39)	D527E	probably benign	Het
Myom2	A	G	8: 15,167,679 (GRCm39)	Y1088C	probably damaging	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5	G	T	1: 125,954,270 (GRCm39)	Q761K	probably benign	Het
Neb	A	T	2: 52,133,854 (GRCm39)	D3376E	probably damaging	Het
Nek10	A	G	14: 15,006,693 (GRCm38)	*1116W	probably null	Het
Or2t43	T	C	11: 58,458,085 (GRCm39)	I29V	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
Pak2	A	T	16: 31,871,014 (GRCm39)	I56K	probably benign	Het
Pgm5	T	C	19: 24,686,629 (GRCm39)	Y526C	probably damaging	Het
Phc2	T	A	4: 128,641,820 (GRCm39)	L714H	probably damaging	Het
Phf13	A	T	4: 152,076,232 (GRCm39)	D223E	probably damaging	Het
Pkd1l2	T	C	8: 117,807,525 (GRCm39)	D171G	probably benign	Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Rbm6	A	T	9: 107,668,949 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,495,466 (GRCm39)	M352T	probably damaging	Het
Sh3d19	G	A	3: 86,022,213 (GRCm39)	V548I	possibly damaging	Het
Slc13a4	T	A	6: 35,256,398 (GRCm39)	I321F	possibly damaging	Het
Spata9	T	C	13: 76,125,771 (GRCm39)	S85P	possibly damaging	Het
Speer4a2	G	T	5: 26,290,764 (GRCm39)	H136N	possibly damaging	Het
Ssb	G	A	2: 69,697,634 (GRCm39)	A122T	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Ten1	T	C	11: 116,096,466 (GRCm39)	L40P	possibly damaging	Het
Tex10	A	C	4: 48,467,725 (GRCm39)	V358G	probably damaging	Het
Tmprss11c	A	T	5: 86,387,332 (GRCm39)	H195Q	probably benign	Het
Tor4a	A	G	2: 25,085,810 (GRCm39)	V31A	possibly damaging	Het
Trim29	G	A	9: 43,222,788 (GRCm39)	A206T	probably damaging	Het
Trim71	A	C	9: 114,391,893 (GRCm39)	V98G	probably benign	Het
Trpm6	C	G	19: 18,809,945 (GRCm39)	L1114V	probably benign	Het
Usp1	A	G	4: 98,822,489 (GRCm39)	D601G	possibly damaging	Het
Vmn2r18	T	A	5: 151,485,194 (GRCm39)	I767F	probably damaging	Het

Other mutations in Or5p1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Or5p1	APN	7	107,916,725 (GRCm39)	missense	probably benign	0.02
IGL01731:Or5p1	APN	7	107,916,682 (GRCm39)	missense	probably benign	0.01
IGL02227:Or5p1	APN	7	107,916,408 (GRCm39)	nonsense	probably null
IGL02624:Or5p1	APN	7	107,916,130 (GRCm39)	missense	probably benign	0.38
IGL03164:Or5p1	APN	7	107,916,901 (GRCm39)	missense	probably damaging	1.00
R0143:Or5p1	UTSW	7	107,916,202 (GRCm39)	missense	probably benign	0.00
R0217:Or5p1	UTSW	7	107,916,505 (GRCm39)	missense	probably benign	0.00
R0295:Or5p1	UTSW	7	107,916,892 (GRCm39)	missense	probably benign	0.42
R2100:Or5p1	UTSW	7	107,916,761 (GRCm39)	missense	probably benign	0.04
R2379:Or5p1	UTSW	7	107,916,499 (GRCm39)	missense	probably benign	0.25
R4178:Or5p1	UTSW	7	107,916,565 (GRCm39)	missense	probably damaging	1.00
R4365:Or5p1	UTSW	7	107,916,313 (GRCm39)	missense	probably benign	0.02
R4734:Or5p1	UTSW	7	107,916,959 (GRCm39)	missense	probably damaging	1.00
R4828:Or5p1	UTSW	7	107,916,677 (GRCm39)	missense	probably benign	0.00
R6424:Or5p1	UTSW	7	107,916,412 (GRCm39)	missense	probably benign	0.01
R6784:Or5p1	UTSW	7	107,916,989 (GRCm39)	missense	probably damaging	0.98
R7109:Or5p1	UTSW	7	107,916,959 (GRCm39)	missense	probably damaging	1.00
R7348:Or5p1	UTSW	7	107,916,920 (GRCm39)	missense	possibly damaging	0.58
R8124:Or5p1	UTSW	7	107,916,984 (GRCm39)	missense	possibly damaging	0.48
R8782:Or5p1	UTSW	7	107,916,296 (GRCm39)	missense	probably damaging	0.99
X0060:Or5p1	UTSW	7	107,916,427 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CAGATGATCCTACACTCTGTGTC -3'
(R):5'- GTCCATGCATTCACACAGCC -3'

Sequencing Primer
(F):5'- ATGATCCTACACTCTGTGTCATCTTC -3'
(R):5'- GCCACCCACATAGGATGC -3'

Posted On

2019-10-24