Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4486001:Or5p68'

556103

Institutional Source

Beutler Lab

Gene Symbol

Or5p68

Ensembl Gene

ENSMUSG00000093980

Gene Name

olfactory receptor family 5 subfamily P member 68

Synonyms

MOR204-35, GA_x6K02T2PBJ9-10676998-10676054, Olfr493

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

PIT4486001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107945242-107946186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107945529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 220 (S220P)

Ref Sequence

ENSEMBL: ENSMUSP00000079005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080106]

AlphaFold

Q8VEW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080106
AA Change: S220P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079005
Gene: ENSMUSG00000093980
AA Change: S220P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	7.1e-55	PFAM
Pfam:7tm_1	44	293	1.1e-22	PFAM

Coding Region Coverage

1x: 93.0%
3x: 90.5%
10x: 84.1%
20x: 70.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,980,914 (GRCm39)	S108P	probably damaging	Het
Abhd16b	A	T	2: 181,135,752 (GRCm39)	Q218L	probably benign	Het
Abhd3	T	A	18: 10,645,233 (GRCm39)	I354F	probably benign	Het
Abt1	T	C	13: 23,607,851 (GRCm39)	Y51C	possibly damaging	Het
Actl9	T	A	17: 33,653,172 (GRCm39)	Y411N	possibly damaging	Het
Ano4	A	G	10: 88,828,891 (GRCm39)	V516A	probably damaging	Het
Bptf	A	T	11: 106,945,614 (GRCm39)	S2542T	probably damaging	Het
Card11	C	T	5: 140,862,163 (GRCm39)	V1045M	probably damaging	Het
Ccdc121	T	A	5: 31,645,087 (GRCm39)	I280K	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdh3	A	G	8: 107,268,122 (GRCm39)	K386E	possibly damaging	Het
Cks1b	C	A	3: 89,323,621 (GRCm39)	Q49H	probably damaging	Het
Clpb	A	T	7: 101,313,139 (GRCm39)	D41V	probably benign	Het
Cyp3a11	A	T	5: 145,797,302 (GRCm39)	M359K	probably damaging	Het
Cyp3a13	A	T	5: 137,908,228 (GRCm39)	I207N	probably benign	Het
Dennd4c	T	A	4: 86,717,701 (GRCm39)	L566*	probably null	Het
Dhtkd1	A	T	2: 5,904,806 (GRCm39)	D859E	probably benign	Het
Efcab6	T	C	15: 83,857,514 (GRCm39)	D295G	probably benign	Het
Fcgbp	A	G	7: 27,774,698 (GRCm39)	T91A	possibly damaging	Het
Gm11569	GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA	GCA	11: 99,689,491 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,528,880 (GRCm39)	K454E	unknown	Het
Herc1	T	A	9: 66,279,671 (GRCm39)	I193N	probably damaging	Het
Kdm5b	T	A	1: 134,556,423 (GRCm39)	L1370Q	probably damaging	Het
Lrrc37	A	T	11: 103,509,027 (GRCm39)	H980Q	unknown	Het
Map4	T	G	9: 109,901,682 (GRCm39)	V965G	probably damaging	Het
Mkrn2os	T	C	6: 115,562,444 (GRCm39)	D173G	probably benign	Het
Ndfip2	A	G	14: 105,532,300 (GRCm39)	D232G	probably damaging	Het
Nipal2	C	T	15: 34,584,875 (GRCm39)	G231D	probably damaging	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Or8g50	T	A	9: 39,648,535 (GRCm39)	C141*	probably null	Het
Prkar2a	T	C	9: 108,610,326 (GRCm39)	L185S	probably damaging	Het
Ptpn9	T	G	9: 56,968,287 (GRCm39)	N542K	probably damaging	Het
Pus10	G	A	11: 23,662,326 (GRCm39)		probably null	Het
Pyroxd2	A	G	19: 42,728,828 (GRCm39)	S191P	probably benign	Het
Rab15	T	A	12: 76,848,716 (GRCm39)	K122*	probably null	Het
Rara	A	G	11: 98,864,321 (GRCm39)	N416S	possibly damaging	Het
Rims2	T	C	15: 39,339,916 (GRCm39)	V870A	possibly damaging	Het
Sec16a	T	C	2: 26,315,785 (GRCm39)	T293A		Het
Slc26a3	G	A	12: 31,520,949 (GRCm39)	D718N	probably benign	Het
Slc44a5	G	A	3: 153,964,659 (GRCm39)	V520I	possibly damaging	Het
Spata31e2	G	A	1: 26,724,410 (GRCm39)	P257S	probably damaging	Het
Tgfb2	A	T	1: 186,422,924 (GRCm39)	Y142N	probably benign	Het
Tgfbi	A	T	13: 56,777,607 (GRCm39)	I364F	probably damaging	Het
Tmem144	A	C	3: 79,734,174 (GRCm39)	D176E	probably benign	Het
Tns4	A	T	11: 98,962,161 (GRCm39)	L612Q	probably damaging	Het
Toe1	A	G	4: 116,663,692 (GRCm39)	L76S	probably damaging	Het
Trank1	T	C	9: 111,219,175 (GRCm39)	F1971L	probably damaging	Het
Tsen54	G	T	11: 115,713,422 (GRCm39)	V481F	probably damaging	Het
Uimc1	A	G	13: 55,223,381 (GRCm39)	L297P	probably damaging	Het
Wnt8a	T	C	18: 34,680,636 (GRCm39)	Y334H	probably damaging	Het
Zfp281	A	G	1: 136,554,741 (GRCm39)	D573G	possibly damaging	Het

Other mutations in Or5p68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Or5p68	APN	7	107,946,156 (GRCm39)	missense	probably benign	0.00
IGL02087:Or5p68	APN	7	107,946,173 (GRCm39)	missense	probably benign
IGL02484:Or5p68	APN	7	107,945,813 (GRCm39)	missense	probably damaging	1.00
IGL02961:Or5p68	APN	7	107,945,334 (GRCm39)	missense	probably benign	0.08
IGL03379:Or5p68	APN	7	107,946,196 (GRCm39)	unclassified	probably benign
R0281:Or5p68	UTSW	7	107,946,121 (GRCm39)	missense	probably benign	0.00
R0285:Or5p68	UTSW	7	107,945,706 (GRCm39)	missense	probably benign	0.02
R1222:Or5p68	UTSW	7	107,945,313 (GRCm39)	missense	probably damaging	1.00
R1912:Or5p68	UTSW	7	107,946,014 (GRCm39)	missense	probably damaging	0.98
R4178:Or5p68	UTSW	7	107,945,765 (GRCm39)	missense	probably benign	0.00
R5239:Or5p68	UTSW	7	107,945,853 (GRCm39)	missense	probably benign	0.03
R5421:Or5p68	UTSW	7	107,946,182 (GRCm39)	missense	probably benign	0.00
R5452:Or5p68	UTSW	7	107,945,312 (GRCm39)	missense	probably damaging	1.00
R6991:Or5p68	UTSW	7	107,945,295 (GRCm39)	missense	possibly damaging	0.92
R7372:Or5p68	UTSW	7	107,945,703 (GRCm39)	missense	probably benign	0.00
R7374:Or5p68	UTSW	7	107,946,095 (GRCm39)	missense	probably damaging	1.00
R7571:Or5p68	UTSW	7	107,945,689 (GRCm39)	missense	probably benign	0.00
R8232:Or5p68	UTSW	7	107,945,495 (GRCm39)	missense	probably damaging	0.97
R8354:Or5p68	UTSW	7	107,945,889 (GRCm39)	missense	probably damaging	1.00
R8454:Or5p68	UTSW	7	107,945,889 (GRCm39)	missense	probably damaging	1.00
R8914:Or5p68	UTSW	7	107,945,759 (GRCm39)	missense	probably benign	0.01
R9087:Or5p68	UTSW	7	107,945,958 (GRCm39)	missense	probably damaging	1.00
R9258:Or5p68	UTSW	7	107,945,886 (GRCm39)	missense	probably benign	0.21
R9608:Or5p68	UTSW	7	107,945,513 (GRCm39)	missense	probably damaging	1.00
R9751:Or5p68	UTSW	7	107,945,645 (GRCm39)	missense	probably benign	0.02
X0025:Or5p68	UTSW	7	107,945,808 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CACCTTGTTCTGGTCAGTGG -3'
(R):5'- TCCACACAAGTCTGTATCCAG -3'

Sequencing Primer
(F):5'- TCAGTGGAGAAGCTCGACTTG -3'
(R):5'- CACACAAGTCTGTATCCAGTTGATTG -3'

Posted On

2019-06-07