Mutagenetix > Incidental Mutation

Incidental Mutation 'R8060:Or4p7'

619634

Institutional Source

Beutler Lab

Gene Symbol

Or4p7

Ensembl Gene

ENSMUSG00000056995

Gene Name

olfactory receptor family 4 subfamily P member 7

Synonyms

Olfr1178, GA_x6K02T2Q125-49870417-49871388, MOR225-6P

MMRRC Submission

067496-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R8060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88221593-88222564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88221848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 86 (T86A)

Ref Sequence

ENSEMBL: ENSMUSP00000150036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075640] [ENSMUST00000214040]

AlphaFold

Q7TR20

Predicted Effect

probably benign
Transcript: ENSMUST00000075640
AA Change: T86A

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

SMART Domains

Protein: ENSMUSP00000075066
Gene: ENSMUSG00000056995
AA Change: T86A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.5e-49	PFAM
Pfam:7tm_1	39	285	7.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214040
AA Change: T86A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Ano5	T	A	7: 51,237,531 (GRCm39)	V785E	probably benign	Het
Arhgef10	A	T	8: 15,004,446 (GRCm39)	R399S	probably damaging	Het
Arhgef40	A	G	14: 52,222,452 (GRCm39)		probably benign	Het
Armc3	G	T	2: 19,293,720 (GRCm39)	V504L	probably benign	Het
Asb10	T	A	5: 24,738,833 (GRCm39)	Y408F	probably benign	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Ccdc112	T	C	18: 46,426,529 (GRCm39)	I131M	probably damaging	Het
Chrnb3	T	A	8: 27,884,588 (GRCm39)	S442T	unknown	Het
Cit	G	A	5: 116,046,786 (GRCm39)	V400M	probably benign	Het
Copg1	T	C	6: 87,886,703 (GRCm39)	F772L	probably damaging	Het
Cts3	T	A	13: 61,714,580 (GRCm39)	I242F	probably damaging	Het
Dock1	T	A	7: 134,770,132 (GRCm39)	D1797E	probably benign	Het
Dock1	T	A	7: 134,592,358 (GRCm39)		probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fam171a2	T	C	11: 102,329,436 (GRCm39)	K441R	possibly damaging	Het
H2-DMa	A	G	17: 34,356,259 (GRCm39)	E87G	probably benign	Het
Has2	T	A	15: 56,533,341 (GRCm39)	M225L	probably benign	Het
Hnrnpll	A	G	17: 80,341,534 (GRCm39)	S502P	probably damaging	Het
Hnrnpul1	G	T	7: 25,447,768 (GRCm39)	F185L	possibly damaging	Het
Hoxd11	G	A	2: 74,512,720 (GRCm39)		probably benign	Het
Larp1b	T	C	3: 40,939,837 (GRCm39)	V330A		Het
Mast4	T	C	13: 102,874,184 (GRCm39)	E1728G	possibly damaging	Het
Minpp1	T	A	19: 32,471,303 (GRCm39)	F284I	probably damaging	Het
Moxd1	A	G	10: 24,177,510 (GRCm39)	S609G	unknown	Het
Myh1	A	C	11: 67,106,077 (GRCm39)	M1231L	probably benign	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or1e27-ps1	T	C	11: 73,555,765 (GRCm39)	I110T	probably benign	Het
Or4c10	A	T	2: 89,760,693 (GRCm39)	N180I	probably benign	Het
Or5p55	A	G	7: 107,566,612 (GRCm39)	T3A	probably benign	Het
Or5w20	A	T	2: 87,727,317 (GRCm39)	Y258F	probably damaging	Het
Or6c205	A	C	10: 129,086,915 (GRCm39)	T171P	possibly damaging	Het
Pln	A	T	10: 53,219,993 (GRCm39)	I12F	unknown	Het
Pomt2	G	A	12: 87,175,780 (GRCm39)	A388V	probably damaging	Het
Rbl2	T	A	8: 91,823,497 (GRCm39)		probably null	Het
Rnpep	T	C	1: 135,194,658 (GRCm39)	Y459C	probably damaging	Het
Slc23a4	T	C	6: 34,925,336 (GRCm39)	T498A	probably damaging	Het
Slc2a4	A	T	11: 69,835,836 (GRCm39)	L338M	possibly damaging	Het
Smco2	C	A	6: 146,768,283 (GRCm39)	Q221K	probably benign	Het
Snx20	G	T	8: 89,354,273 (GRCm39)	C152*	probably null	Het
Spata16	T	C	3: 26,894,869 (GRCm39)	L306P	probably damaging	Het
Spata20	A	T	11: 94,373,065 (GRCm39)	F520L	probably benign	Het
Sptbn1	A	T	11: 30,051,616 (GRCm39)	D2290E	probably damaging	Het
Tnfrsf11b	G	A	15: 54,117,505 (GRCm39)	T250I	probably benign	Het
Trim34a	G	T	7: 103,910,183 (GRCm39)	W328C	probably damaging	Het
Trim42	T	G	9: 97,245,532 (GRCm39)	M423L	probably damaging	Het
Trpm4	T	C	7: 44,954,875 (GRCm39)	K1055E	probably damaging	Het
Trpv5	T	A	6: 41,651,465 (GRCm39)	K238*	probably null	Het
Tshr	A	C	12: 91,505,134 (GRCm39)	I691L	probably benign	Het
Vmn2r-ps117	A	T	17: 19,058,124 (GRCm39)	H560L	possibly damaging	Het

Other mutations in Or4p7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Or4p7	APN	2	88,222,245 (GRCm39)	missense	possibly damaging	0.79
IGL02261:Or4p7	APN	2	88,221,725 (GRCm39)	missense	probably benign	0.05
IGL03023:Or4p7	APN	2	88,221,687 (GRCm39)	missense	probably damaging	1.00
IGL03053:Or4p7	APN	2	88,221,938 (GRCm39)	missense	probably damaging	1.00
IGL03168:Or4p7	APN	2	88,221,938 (GRCm39)	missense	probably damaging	1.00
R0432:Or4p7	UTSW	2	88,222,377 (GRCm39)	missense	probably damaging	0.98
R1738:Or4p7	UTSW	2	88,221,671 (GRCm39)	missense	probably benign	0.01
R2051:Or4p7	UTSW	2	88,221,882 (GRCm39)	missense	possibly damaging	0.49
R2136:Or4p7	UTSW	2	88,221,663 (GRCm39)	missense	probably benign	0.24
R3236:Or4p7	UTSW	2	88,221,750 (GRCm39)	missense	probably benign	0.01
R4407:Or4p7	UTSW	2	88,222,427 (GRCm39)	missense	probably benign	0.37
R4930:Or4p7	UTSW	2	88,222,284 (GRCm39)	missense	probably benign	0.12
R4959:Or4p7	UTSW	2	88,221,674 (GRCm39)	missense	probably benign	0.37
R4973:Or4p7	UTSW	2	88,221,674 (GRCm39)	missense	probably benign	0.37
R5178:Or4p7	UTSW	2	88,221,819 (GRCm39)	missense	possibly damaging	0.50
R5411:Or4p7	UTSW	2	88,221,605 (GRCm39)	missense	probably benign	0.01
R6282:Or4p7	UTSW	2	88,221,877 (GRCm39)	nonsense	probably null
R7289:Or4p7	UTSW	2	88,222,050 (GRCm39)	missense	probably damaging	0.99
R7493:Or4p7	UTSW	2	88,222,224 (GRCm39)	missense	possibly damaging	0.94
R7591:Or4p7	UTSW	2	88,222,220 (GRCm39)	missense	probably benign	0.17
R8242:Or4p7	UTSW	2	88,222,418 (GRCm39)	missense	possibly damaging	0.50
Z1176:Or4p7	UTSW	2	88,222,377 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACAGAATTTATTCTCCTAGGGC -3'
(R):5'- CAGCATCACACTTCTGCCTG -3'

Sequencing Primer
(F):5'- TCTCCTAGGGCTTTCTCAGACAAAAG -3'
(R):5'- ACTTCTGCCTGCTCATAAGGATGG -3'

Posted On

2020-01-23