Mutagenetix > Incidental Mutation

Incidental Mutation 'R9449:Or5p4'

714133

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 #

R9449 (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 107680040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 13 (I13T)

Ref Sequence

ENSEMBL: ENSMUSP00000151152 (fasta)

Gene Model

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

AlphaFold

Q8VGI5

Predicted Effect

probably benign
Transcript: ENSMUST00000067143
AA Change: I13T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000063555
Gene: ENSMUSG00000054236
AA Change: I13T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aarsd1	A	C	11: 101,301,597 (GRCm39)	S262A	probably benign	Het
Abhd17c	A	G	7: 83,763,637 (GRCm39)	Y189H	probably damaging	Het
Adam33	T	C	2: 130,895,606 (GRCm39)	R570G	possibly damaging	Het
Alpk2	G	A	18: 65,424,464 (GRCm39)	R1441W	probably damaging	Het
Arhgap21	A	G	2: 20,885,464 (GRCm39)	V581A	probably benign	Het
Bcat2	T	C	7: 45,234,980 (GRCm39)	V226A	possibly damaging	Het
Cdh10	A	G	15: 19,013,521 (GRCm39)	N707S	possibly damaging	Het
Chd9	T	C	8: 91,659,174 (GRCm39)	F45L	unknown	Het
Clec1a	T	C	6: 129,428,606 (GRCm39)	T25A	probably benign	Het
Cps1	T	C	1: 67,259,671 (GRCm39)	F1338L	probably damaging	Het
Cthrc1	A	G	15: 38,947,868 (GRCm39)	T196A	probably benign	Het
Ctsm	A	T	13: 61,686,299 (GRCm39)	V228D	probably damaging	Het
Dennd3	A	T	15: 73,429,477 (GRCm39)	D920V	probably damaging	Het
Dnah17	A	G	11: 117,987,452 (GRCm39)	I1286T	probably benign	Het
Dnah3	T	A	7: 119,551,473 (GRCm39)	T2949S	probably benign	Het
Dram1	C	T	10: 88,192,703 (GRCm39)	V28M	probably benign	Het
Eml5	A	G	12: 98,827,554 (GRCm39)	Y559H	probably damaging	Het
Ermard	C	T	17: 15,273,554 (GRCm39)	R380C	possibly damaging	Het
Fam181a	A	G	12: 103,282,107 (GRCm39)	D4G	probably damaging	Het
Gabrd	C	A	4: 155,472,803 (GRCm39)	V127L	probably damaging	Het
Galnt12	T	A	4: 47,104,163 (GRCm39)	Y140*	probably null	Het
Gpr161	A	T	1: 165,146,389 (GRCm39)	K442*	probably null	Het
Haus6	A	T	4: 86,513,665 (GRCm39)	N332K	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Itsn1	T	A	16: 91,625,264 (GRCm39)	*622R	probably null	Het
Kcna2	T	A	3: 107,012,887 (GRCm39)	Y489*	probably null	Het
Limk1	A	G	5: 134,701,864 (GRCm39)		probably null	Het
Manba	A	T	3: 135,255,079 (GRCm39)	D479V	probably benign	Het
Myh6	A	T	14: 55,189,779 (GRCm39)	I1089N	possibly damaging	Het
Npas4	T	A	19: 5,038,492 (GRCm39)	D142V	probably damaging	Het
Nr4a1	T	C	15: 101,168,053 (GRCm39)	F30L	probably benign	Het
Numbl	C	T	7: 26,976,327 (GRCm39)	R336C		Het
Or10x4	G	A	1: 174,218,742 (GRCm39)	A36T	probably benign	Het
Parp9	T	C	16: 35,777,234 (GRCm39)	S393P	probably damaging	Het
Pcdha11	A	G	18: 37,145,484 (GRCm39)	E525G	probably damaging	Het
Pdia2	T	C	17: 26,416,174 (GRCm39)	T298A	probably benign	Het
Per3	G	A	4: 151,094,945 (GRCm39)	T946I	probably benign	Het
Pla2r1	A	T	2: 60,258,902 (GRCm39)	V1162D	probably damaging	Het
Plxnd1	T	A	6: 115,932,730 (GRCm39)	N1917Y	probably damaging	Het
Pole3	A	T	4: 62,442,277 (GRCm39)	D114E	unknown	Het
Ppil3	T	C	1: 58,470,397 (GRCm39)	D151G	probably benign	Het
Psd3	A	T	8: 68,165,833 (GRCm39)	M365K	unknown	Het
Psme2b	T	G	11: 48,836,566 (GRCm39)	H127P	probably damaging	Het
Ric8a	C	G	7: 140,437,393 (GRCm39)	R4G	probably benign	Het
Rock2	A	T	12: 17,027,763 (GRCm39)	D1360V	probably damaging	Het
Simc1	A	G	13: 54,674,192 (GRCm39)	T847A	probably benign	Het
Slc12a1	T	A	2: 125,028,144 (GRCm39)	V480E	probably damaging	Het
Slc32a1	T	C	2: 158,456,241 (GRCm39)	F299L	probably benign	Het
Slc44a2	A	G	9: 21,258,333 (GRCm39)	Y500C		Het
Ssbp2	A	G	13: 91,823,157 (GRCm39)	D192G	probably benign	Het
Stat5b	T	C	11: 100,681,674 (GRCm39)	K527E	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Usp50	A	G	2: 126,619,817 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,053 (GRCm39)	M70L	probably benign	Het
Vmn1r40	A	G	6: 89,691,854 (GRCm39)	T224A	probably benign	Het
Vmn2r116	A	G	17: 23,605,919 (GRCm39)	D277G	probably benign	Het
Vti1a	T	A	19: 55,612,278 (GRCm39)	I197N	possibly damaging	Het
Zfyve9	C	A	4: 108,576,435 (GRCm39)	L215F	probably damaging	Het
Znrf3	A	T	11: 5,288,710 (GRCm39)	Y19*	probably null	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
R9659:Or5p4	UTSW	7	107,680,745 (GRCm39)	missense	probably damaging	1.00
R9788: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'- GGAACTTCATAGTTGGATCCTAAAG -3'
(R):5'- TGTCCACAAAGGCTAGATGG -3'

Sequencing Primer
(F):5'- GGGTCATTTCAGTCAGTGA -3'
(R):5'- CTAGATGGCTGAGGAACAAGTAC -3'

Posted On

2022-06-15