Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Or4p21'

368825

Institutional Source

Beutler Lab

Gene Symbol

Or4p21

Ensembl Gene

ENSMUSG00000075124

Gene Name

olfactory receptor family 4 subfamily P member 21

Synonyms

Gm13757, MOR225-16_p, MOR225-7P, GA_x6K02T2Q125-49934557-49933640, Olfr1182, MOR225-8P, MOR225-8P, Olfr1536-ps1

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88276363-88279465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88276691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 197 (M197K)

Ref Sequence

ENSEMBL: ENSMUSP00000136580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102619] [ENSMUST00000126038] [ENSMUST00000179450]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102619
AA Change: M197K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: M197K

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
Pfam:7tm_1	39	285	7.2e-26	PFAM
Pfam:7tm_4	137	278	3.5e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126038
AA Change: M197K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000179450
AA Change: M197K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136580
Gene: ENSMUSG00000090097
AA Change: M197K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	26	303	1.4e-49	PFAM
Pfam:7tm_1	39	285	1.5e-13	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly damaging	Het

Other mutations in Or4p21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Or4p21	APN	2	88,276,539 (GRCm39)	missense	probably damaging	1.00
IGL01986:Or4p21	APN	2	88,276,839 (GRCm39)	missense	probably benign	0.00
IGL02416:Or4p21	APN	2	88,277,174 (GRCm39)	missense	probably benign	0.38
IGL03018:Or4p21	APN	2	88,277,163 (GRCm39)	missense	probably damaging	1.00
R0241:Or4p21	UTSW	2	88,276,889 (GRCm39)	missense	possibly damaging	0.48
R0241:Or4p21	UTSW	2	88,276,889 (GRCm39)	missense	possibly damaging	0.48
R0627:Or4p21	UTSW	2	88,276,563 (GRCm39)	missense	probably damaging	1.00
R0634:Or4p21	UTSW	2	88,276,961 (GRCm39)	missense	probably benign	0.10
R1305:Or4p21	UTSW	2	88,276,646 (GRCm39)	nonsense	probably null
R1353:Or4p21	UTSW	2	88,276,895 (GRCm39)	missense	probably benign	0.42
R1765:Or4p21	UTSW	2	88,276,367 (GRCm39)	missense	probably damaging	1.00
R1974:Or4p21	UTSW	2	88,276,853 (GRCm39)	missense	probably damaging	0.97
R1990:Or4p21	UTSW	2	88,277,033 (GRCm39)	missense	probably damaging	1.00
R2196:Or4p21	UTSW	2	88,277,054 (GRCm39)	missense	probably benign	0.10
R2974:Or4p21	UTSW	2	88,276,918 (GRCm39)	nonsense	probably null
R5495:Or4p21	UTSW	2	88,276,401 (GRCm39)	missense	probably benign	0.03
R5771:Or4p21	UTSW	2	88,276,652 (GRCm39)	missense	possibly damaging	0.94
R6654:Or4p21	UTSW	2	88,277,016 (GRCm39)	missense	possibly damaging	0.80
R6756:Or4p21	UTSW	2	88,277,078 (GRCm39)	missense	possibly damaging	0.78
R8070:Or4p21	UTSW	2	88,277,003 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGCAAAGATTTTGTCTTCAGGG -3'
(R):5'- TCATGAGCAGAAACAGATGCC -3'

Sequencing Primer
(F):5'- AAAGATTTTGTCTTCAGGGAAAGTGG -3'
(R):5'- AACAGATGCCATGTTTTTATCTGGGC -3'

Posted On

2016-02-04