Mutagenetix > Incidental Mutation

Incidental Mutation 'R9788:Or5p4'

734446

Institutional Source

Beutler Lab

Gene Symbol

Or5p4

Ensembl Gene

ENSMUSG00000054236

Gene Name

olfactory receptor family 5 subfamily P member 4

Synonyms

MOR204-39, MOR204-2, Olfr481, GA_x6K02T2PBJ9-10409785-10410723

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9788 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107680003-107680941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107680745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 248 (V248A)

Ref Sequence

ENSEMBL: ENSMUSP00000151152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067143] [ENSMUST00000213601]

AlphaFold

Q8VGI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000067143
AA Change: V248A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063555
Gene: ENSMUSG00000054236
AA Change: V248A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.5e-51	PFAM
Pfam:7tm_1	41	290	1.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213601
AA Change: V248A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,192,253 (GRCm39)	M753K	probably damaging	Het
Adcy7	A	G	8: 89,045,733 (GRCm39)	T572A	probably benign	Het
Bmp8b	A	G	4: 122,999,369 (GRCm39)	M76V	probably damaging	Het
C2cd2	A	G	16: 97,723,473 (GRCm39)	S15P	possibly damaging	Het
Cfh	T	C	1: 140,036,499 (GRCm39)	I702V	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cntln	G	A	4: 84,968,093 (GRCm39)	V771M	probably damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,041,347 (GRCm39)	C369Y	possibly damaging	Het
Elapor1	G	A	3: 108,377,297 (GRCm39)	T387I	possibly damaging	Het
Ephb4	T	G	5: 137,363,743 (GRCm39)	Y583D	probably damaging	Het
Gabra2	T	C	5: 71,192,140 (GRCm39)	D63G	probably benign	Het
Gfra1	A	G	19: 58,441,652 (GRCm39)	M93T	probably damaging	Het
Gm3604	A	T	13: 62,519,724 (GRCm39)	H10Q	possibly damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Herc1	A	C	9: 66,307,185 (GRCm39)	I1002L	probably benign	Het
Hmcn1	T	C	1: 150,528,333 (GRCm39)	I3272V	probably benign	Het
Izumo3	A	G	4: 92,035,037 (GRCm39)	I60T	probably benign	Het
Jakmip2	T	A	18: 43,704,927 (GRCm39)	N358I	probably damaging	Het
Klra9	T	A	6: 130,159,385 (GRCm39)	K209N	possibly damaging	Het
Ldah	A	T	12: 8,333,946 (GRCm39)	Y279F	possibly damaging	Het
Lrrcc1	T	A	3: 14,602,286 (GRCm39)	H126Q	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	A	G	14: 61,083,893 (GRCm39)	T595A	probably damaging	Het
Mms22l	A	G	4: 24,586,204 (GRCm39)	T859A	probably benign	Het
Mogat1	A	G	1: 78,499,342 (GRCm39)	M39V	probably benign	Het
Muc6	T	C	7: 141,232,100 (GRCm39)	D968G	probably damaging	Het
Nab1	T	C	1: 52,529,166 (GRCm39)	K244E	possibly damaging	Het
Nr1h4	A	G	10: 89,314,638 (GRCm39)		probably null	Het
Nxph1	A	G	6: 9,247,418 (GRCm39)	T130A	probably damaging	Het
Obscn	A	G	11: 58,969,678 (GRCm39)	V2426A	possibly damaging	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or11l3	T	A	11: 58,516,692 (GRCm39)	Y60F	probably benign	Het
Or1e31	T	C	11: 73,689,768 (GRCm39)	T272A	probably benign	Het
Or4m1	A	G	14: 50,558,181 (GRCm39)	F37S	probably benign	Het
Or8g21	A	G	9: 38,906,296 (GRCm39)	V145A	possibly damaging	Het
Osbpl3	A	G	6: 50,324,344 (GRCm39)		probably null	Het
Otop3	T	A	11: 115,235,087 (GRCm39)	C259S	unknown	Het
Pcsk5	A	G	19: 17,455,245 (GRCm39)	Y1062H	probably benign	Het
Phf21a	T	C	2: 92,181,978 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,681,136 (GRCm39)	I164V	probably benign	Het
Plekhh2	T	A	17: 84,854,892 (GRCm39)	M42K	possibly damaging	Het
Plekhm3	T	C	1: 64,961,422 (GRCm39)	D278G	possibly damaging	Het
Plod3	A	G	5: 137,019,911 (GRCm39)	Y447C	probably damaging	Het
Psg16	T	C	7: 16,824,524 (GRCm39)	S12P	possibly damaging	Het
Ptprq	A	T	10: 107,401,751 (GRCm39)	C1914S	probably benign	Het
Rai1	A	G	11: 60,078,080 (GRCm39)	T715A	possibly damaging	Het
Rsad2	G	A	12: 26,500,577 (GRCm39)	H237Y	probably benign	Het
Sarm1	A	G	11: 78,378,863 (GRCm39)	L394P	probably damaging	Het
Scube1	A	G	15: 83,535,901 (GRCm39)	S258P	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a26	G	A	19: 7,763,798 (GRCm39)	P412S	probably benign	Het
Son	TATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	TATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	16: 91,453,699 (GRCm39)		probably benign	Het
Synrg	A	T	11: 83,877,781 (GRCm39)	H342L	probably benign	Het
Tenm3	T	C	8: 48,788,596 (GRCm39)	Y478C	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Trip4	T	C	9: 65,740,702 (GRCm39)	E535G	probably benign	Het
Utp20	A	G	10: 88,653,171 (GRCm39)	L303P	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Zfp616	G	A	11: 73,975,276 (GRCm39)	G515D	probably damaging	Het
Zfp786	A	G	6: 47,797,816 (GRCm39)	L374P	probably benign	Het
Zfp82	C	T	7: 29,755,963 (GRCm39)	R373H	probably damaging	Het

Other mutations in Or5p4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Or5p4	APN	7	107,680,411 (GRCm39)	missense	probably benign	0.18
IGL01570:Or5p4	APN	7	107,680,480 (GRCm39)	missense	probably benign	0.38
IGL02619:Or5p4	APN	7	107,680,949 (GRCm39)	utr 3 prime	probably benign
IGL03175:Or5p4	APN	7	107,680,925 (GRCm39)	missense	probably benign
R0401:Or5p4	UTSW	7	107,680,079 (GRCm39)	missense	possibly damaging	0.81
R0932:Or5p4	UTSW	7	107,680,727 (GRCm39)	missense	probably damaging	1.00
R1679:Or5p4	UTSW	7	107,680,859 (GRCm39)	missense	probably damaging	1.00
R2189:Or5p4	UTSW	7	107,680,243 (GRCm39)	missense	possibly damaging	0.47
R3804:Or5p4	UTSW	7	107,680,378 (GRCm39)	missense	probably damaging	1.00
R4532:Or5p4	UTSW	7	107,680,756 (GRCm39)	missense	probably benign	0.18
R4932:Or5p4	UTSW	7	107,680,781 (GRCm39)	missense	probably damaging	0.99
R5630:Or5p4	UTSW	7	107,680,323 (GRCm39)	missense	probably benign	0.05
R6155:Or5p4	UTSW	7	107,680,493 (GRCm39)	missense	probably benign	0.00
R6523:Or5p4	UTSW	7	107,680,762 (GRCm39)	missense	probably benign	0.34
R6987:Or5p4	UTSW	7	107,680,338 (GRCm39)	nonsense	probably null
R7378:Or5p4	UTSW	7	107,680,399 (GRCm39)	missense	not run
R7609:Or5p4	UTSW	7	107,680,753 (GRCm39)	missense	probably damaging	0.99
R8293:Or5p4	UTSW	7	107,680,269 (GRCm39)	missense	probably benign	0.00
R9322:Or5p4	UTSW	7	107,680,727 (GRCm39)	missense	probably damaging	1.00
R9449:Or5p4	UTSW	7	107,680,040 (GRCm39)	missense
R9659:Or5p4	UTSW	7	107,680,745 (GRCm39)	missense	probably damaging	1.00
V8831:Or5p4	UTSW	7	107,680,742 (GRCm39)	missense	probably benign	0.24
Z1177:Or5p4	UTSW	7	107,680,279 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTTCTGTGGCCCCAACAAAG -3'
(R):5'- GGAACCAATGTGTTCTCGCC -3'

Sequencing Primer
(F):5'- AAACTGTCTTGTGGCCATGC -3'
(R):5'- GTTCAACATGGGGATCAC -3'

Posted On

2022-11-14