Mutagenetix > Incidental Mutation

Incidental Mutation 'R8137:Or4p8'

632287

Institutional Source

Beutler Lab

Gene Symbol

Or4p8

Ensembl Gene

ENSMUSG00000075114

Gene Name

olfactory receptor family 4 subfamily P member 8

Synonyms

MOR225-4, Olfr1208, GA_x6K02T2Q125-50372411-50371485

MMRRC Submission

067565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88726918-88727992 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 88727013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 309 (*309W)

Ref Sequence

ENSEMBL: ENSMUSP00000149280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099810] [ENSMUST00000214121] [ENSMUST00000214297]

AlphaFold

Q8VG47

Predicted Effect

probably null
Transcript: ENSMUST00000099810
AA Change: *309W

SMART Domains

Protein: ENSMUSP00000097398
Gene: ENSMUSG00000075114
AA Change: *309W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.9e-48	PFAM
Pfam:7tm_1	38	284	2.6e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214121
AA Change: *309W

Predicted Effect

probably null
Transcript: ENSMUST00000214297
AA Change: *309W

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 96.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfn1	T	G	11: 89,344,003 (GRCm39)	Q326H	probably benign	Het
Carf	G	A	1: 60,187,124 (GRCm39)	V576I	probably benign	Het
Ccnl1	C	T	3: 65,865,291 (GRCm39)	D87N	possibly damaging	Het
Cgref1	T	A	5: 31,091,749 (GRCm39)	D111V	possibly damaging	Het
Cnot4	G	A	6: 35,023,222 (GRCm39)	P567S	unknown	Het
Cyp7b1	A	T	3: 18,151,765 (GRCm39)	D149E	probably benign	Het
Dcc	A	T	18: 71,511,783 (GRCm39)	D877E	probably benign	Het
Dhx8	T	A	11: 101,654,808 (GRCm39)	I1032N	probably damaging	Het
Dnah7b	A	G	1: 46,272,913 (GRCm39)	Y2347C	probably damaging	Het
Dtx3	A	G	10: 127,029,041 (GRCm39)	S63P	possibly damaging	Het
Dyrk2	C	T	10: 118,695,789 (GRCm39)	E490K	probably benign	Het
Fcgbp	A	C	7: 27,804,496 (GRCm39)	Y1868S	probably damaging	Het
Foxa2	T	C	2: 147,885,768 (GRCm39)	H355R	probably benign	Het
Fpr-rs7	A	G	17: 20,334,055 (GRCm39)	V145A	possibly damaging	Het
Gm14137	A	T	2: 119,005,837 (GRCm39)	E132V	probably benign	Het
Gpn2	T	C	4: 133,315,873 (GRCm39)	S211P	possibly damaging	Het
Greb1l	A	T	18: 10,474,357 (GRCm39)	Q224L	possibly damaging	Het
Gspt1	A	G	16: 11,058,532 (GRCm39)	V144A	probably benign	Het
Ifi204	A	G	1: 173,589,188 (GRCm39)	I81T	possibly damaging	Het
Il27ra	T	A	8: 84,767,720 (GRCm39)		probably null	Het
Kif21a	T	C	15: 90,852,645 (GRCm39)	T862A	probably benign	Het
Klf2	T	C	8: 73,074,088 (GRCm39)		probably null	Het
Kmt2e	A	G	5: 23,706,952 (GRCm39)	Y1505C	probably damaging	Het
Mcm9	T	C	10: 53,499,076 (GRCm39)	T216A		Het
Muc16	T	C	9: 18,556,972 (GRCm39)	E3107G	unknown	Het
Ncor2	C	T	5: 125,114,957 (GRCm39)	V169I		Het
Oas3	T	C	5: 120,915,565 (GRCm39)	Q42R	probably benign	Het
Or2l5	A	G	16: 19,333,846 (GRCm39)	V180A	possibly damaging	Het
Pde10a	A	G	17: 9,193,647 (GRCm39)	Y693C	possibly damaging	Het
Pde11a	T	C	2: 76,041,383 (GRCm39)	E429G	possibly damaging	Het
Pramel23	A	G	4: 143,425,835 (GRCm39)	F36S	probably damaging	Het
Pygo1	A	G	9: 72,852,140 (GRCm39)	H109R	probably damaging	Het
Rbsn	A	T	6: 92,167,003 (GRCm39)	V547D	probably benign	Het
Ros1	A	G	10: 52,001,933 (GRCm39)	I1084T	possibly damaging	Het
Sis	T	C	3: 72,796,378 (GRCm39)	D1801G	probably benign	Het
Slco4c1	C	T	1: 96,748,970 (GRCm39)	G649E	probably damaging	Het
Spmip10	A	G	18: 56,727,653 (GRCm39)	D117G	probably damaging	Het
Sptbn2	A	T	19: 4,787,431 (GRCm39)	I914F	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Strc	C	T	2: 121,197,219 (GRCm39)	G1503R	probably damaging	Het
Sv2c	T	A	13: 96,225,171 (GRCm39)	Y46F	probably damaging	Het
Tctn3	A	T	19: 40,593,785 (GRCm39)	W462R	probably damaging	Het
Tjp3	T	C	10: 81,109,525 (GRCm39)	D857G	probably benign	Het
Tor1aip2	C	T	1: 155,939,414 (GRCm39)	T242I	possibly damaging	Het
Ttn	T	A	2: 76,800,273 (GRCm39)	I312F	unknown	Het
Vezt	T	C	10: 93,775,154 (GRCm39)	N94D		Het
Vmn2r105	T	C	17: 20,454,966 (GRCm39)	N57D	probably benign	Het
Wdr59	T	C	8: 112,212,011 (GRCm39)	D353G		Het
Ykt6	T	C	11: 5,909,368 (GRCm39)	V59A	probably damaging	Het
Ypel3	T	G	7: 126,377,269 (GRCm39)	V54G	possibly damaging	Het
Zfp386	T	A	12: 116,023,268 (GRCm39)	C329S	possibly damaging	Het
Zfp451	A	T	1: 33,821,156 (GRCm39)	L232H	possibly damaging	Het
Zfp648	A	G	1: 154,081,110 (GRCm39)	H423R	probably damaging	Het
Zfp729b	T	C	13: 67,740,861 (GRCm39)	Y468C	probably damaging	Het

Other mutations in Or4p8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Or4p8	APN	2	88,727,321 (GRCm39)	missense	probably damaging	1.00
IGL02132:Or4p8	APN	2	88,727,503 (GRCm39)	missense	probably benign
IGL02374:Or4p8	APN	2	88,727,803 (GRCm39)	missense	probably damaging	1.00
R1378:Or4p8	UTSW	2	88,727,370 (GRCm39)	missense	probably benign	0.01
R1570:Or4p8	UTSW	2	88,727,290 (GRCm39)	missense	probably damaging	1.00
R2056:Or4p8	UTSW	2	88,727,105 (GRCm39)	missense	probably damaging	1.00
R2092:Or4p8	UTSW	2	88,727,611 (GRCm39)	missense	probably damaging	0.99
R2185:Or4p8	UTSW	2	88,727,047 (GRCm39)	missense	probably damaging	0.99
R5223:Or4p8	UTSW	2	88,727,678 (GRCm39)	missense	probably benign	0.03
R5479:Or4p8	UTSW	2	88,727,035 (GRCm39)	missense	probably benign	0.13
R6463:Or4p8	UTSW	2	88,727,462 (GRCm39)	missense	probably benign	0.00
R6859:Or4p8	UTSW	2	88,727,278 (GRCm39)	missense	probably benign
R7347:Or4p8	UTSW	2	88,727,615 (GRCm39)	missense	possibly damaging	0.51
R7352:Or4p8	UTSW	2	88,727,062 (GRCm39)	missense	probably damaging	1.00
R7544:Or4p8	UTSW	2	88,727,705 (GRCm39)	missense	probably damaging	1.00
R7713:Or4p8	UTSW	2	88,728,122 (GRCm39)	start gained	probably benign
R7842:Or4p8	UTSW	2	88,727,305 (GRCm39)	missense	possibly damaging	0.89
R7869:Or4p8	UTSW	2	88,727,408 (GRCm39)	missense	probably benign	0.00
R8168:Or4p8	UTSW	2	88,727,120 (GRCm39)	missense	probably benign	0.09
R8556:Or4p8	UTSW	2	88,727,382 (GRCm39)	nonsense	probably null
R8967:Or4p8	UTSW	2	88,727,844 (GRCm39)	nonsense	probably null
R9092:Or4p8	UTSW	2	88,727,321 (GRCm39)	missense	probably damaging	1.00
R9221:Or4p8	UTSW	2	88,727,255 (GRCm39)	missense	probably benign
Z1176:Or4p8	UTSW	2	88,727,405 (GRCm39)	missense	probably damaging	1.00
Z1177:Or4p8	UTSW	2	88,727,144 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCATTATATCTGGGATGATGAAG -3'
(R):5'- ACACATCACCGTTGTATTCATGTTC -3'

Sequencing Primer
(F):5'- GGGATGATGAAGGAGGAAATAATTTC -3'
(R):5'- ACCGTTGTATTCATGTTCTTCTTG -3'

Posted On

2020-06-30