Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:Or4a72'

482278

Institutional Source

Beutler Lab

Gene Symbol

Or4a72

Ensembl Gene

ENSMUSG00000111456

Gene Name

olfactory receptor family 4 subfamily A member 72

Synonyms

GA_x6K02T2Q125-51020951-51020028, MOR231-12, Olfr1245

MMRRC Submission

044242-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89405056-89406117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89406016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 18 (D18G)

Ref Sequence

ENSEMBL: ENSMUSP00000150791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000214870] [ENSMUST00000217402]

AlphaFold

A0A1L1SQJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000099766
AA Change: D18G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: D18G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	6e-49	PFAM
Pfam:7tm_1	39	285	2.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214870
AA Change: D18G

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000217402
AA Change: D18G

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,769,677 (GRCm39)	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,940,978 (GRCm39)	I591F	unknown	Het
Ace	C	A	11: 105,876,093 (GRCm39)	Y816*	probably null	Het
Ahnak2	A	G	12: 112,746,715 (GRCm39)	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,746,589 (GRCm39)	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,557,175 (GRCm39)	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,786,397 (GRCm39)	T257A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,454,123 (GRCm39)	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,602,191 (GRCm39)	R305H	probably damaging	Het
Cyb5r4	C	T	9: 86,939,221 (GRCm39)	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,062,206 (GRCm39)	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,837,900 (GRCm39)	V394E	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Defb36	A	T	2: 152,446,408 (GRCm39)	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713 (GRCm39)	D263G	probably benign	Het
Dock10	T	C	1: 80,510,148 (GRCm39)	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,672,328 (GRCm39)		probably null	Het
Eif3e	A	G	15: 43,129,540 (GRCm39)	I196T	probably damaging	Het
Ercc4	T	A	16: 12,927,903 (GRCm39)	C24*	probably null	Het
Fmn1	A	G	2: 113,194,648 (GRCm39)	E116G	unknown	Het
Gnas	A	G	2: 174,139,655 (GRCm39)	M1V	probably null	Het
Grin2a	C	A	16: 9,397,404 (GRCm39)	M894I	probably benign	Het
Herc2	G	T	7: 55,878,253 (GRCm39)	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,631,044 (GRCm39)	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,631,045 (GRCm39)	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,619,372 (GRCm39)	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Itih2	T	C	2: 10,113,705 (GRCm39)		probably benign	Het
Itsn1	T	C	16: 91,649,899 (GRCm39)	L191P	probably benign	Het
Kdr	T	C	5: 76,105,026 (GRCm39)	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,119,574 (GRCm39)	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,966,385 (GRCm39)	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,438,317 (GRCm39)	R38*	probably null	Het
Med13l	T	C	5: 118,859,551 (GRCm39)	V246A	possibly damaging	Het
Mlec	T	A	5: 115,286,108 (GRCm39)	T248S	probably benign	Het
Mslnl	T	A	17: 25,956,876 (GRCm39)	V54D	possibly damaging	Het
Muc16	G	A	9: 18,568,508 (GRCm39)	T1337I	unknown	Het
Nek7	C	T	1: 138,443,392 (GRCm39)	S187N	probably damaging	Het
Neto2	A	G	8: 86,367,214 (GRCm39)	V538A	probably benign	Het
Nktr	T	C	9: 121,579,202 (GRCm39)		probably benign	Het
Npy6r	A	G	18: 44,409,559 (GRCm39)	K327E	probably damaging	Het
Or2ag1	A	G	7: 106,472,789 (GRCm39)	I221T	probably damaging	Het
Or3a1c	A	G	11: 74,046,396 (GRCm39)	M139V	possibly damaging	Het
Or4c123	T	A	2: 89,127,368 (GRCm39)	D82V	probably damaging	Het
Or5b109	A	T	19: 13,211,889 (GRCm39)	I92F	probably benign	Het
Pcdhga4	A	T	18: 37,820,478 (GRCm39)	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,152,086 (GRCm39)	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,281,399 (GRCm39)	Y486*	probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Rbm12	G	A	2: 155,939,646 (GRCm39)		probably benign	Het
Rgs19	T	C	2: 181,331,300 (GRCm39)	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,160,066 (GRCm39)	N145S	probably damaging	Het
Rnf4	T	A	5: 34,508,565 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,205,737 (GRCm39)	T207A	probably damaging	Het
Rufy4	A	C	1: 74,168,556 (GRCm39)	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,372,985 (GRCm39)	S717R	probably benign	Het
Sin3a	A	T	9: 57,014,824 (GRCm39)	I682F	probably damaging	Het
Sipa1l2	A	T	8: 126,195,212 (GRCm39)	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,431 (GRCm39)	I23V	unknown	Het
Slitrk5	A	G	14: 111,919,157 (GRCm39)	N927S	probably benign	Het
Smc6	A	G	12: 11,326,354 (GRCm39)	K117R	possibly damaging	Het
Sod2	G	A	17: 13,226,918 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,686,030 (GRCm39)	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,038,206 (GRCm39)	L209F	probably damaging	Het
Tll1	G	T	8: 64,491,620 (GRCm39)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Trim30b	A	G	7: 104,015,349 (GRCm39)	V13A	probably damaging	Het
Trip11	G	A	12: 101,856,001 (GRCm39)	T425I	probably benign	Het
Ttn	C	A	2: 76,720,317 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ush2a	T	A	1: 187,999,220 (GRCm39)	S177T	probably damaging	Het
Usp40	A	T	1: 87,906,281 (GRCm39)	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,006,644 (GRCm39)	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,538,928 (GRCm39)	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,199,317 (GRCm39)	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,315,808 (GRCm39)	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,055,711 (GRCm39)	I809N	probably damaging	Het
Wdr7	G	A	18: 63,861,540 (GRCm39)	G184D	probably damaging	Het
Wnk1	C	T	6: 120,014,562 (GRCm39)	G11D	probably damaging	Het
Zfp110	A	C	7: 12,578,602 (GRCm39)	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,706,757 (GRCm39)	V134A	probably damaging	Het

Other mutations in Or4a72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Or4a72	APN	2	89,405,767 (GRCm39)	missense	possibly damaging	0.68
IGL01690:Or4a72	APN	2	89,405,557 (GRCm39)	missense	probably benign	0.09
IGL02334:Or4a72	APN	2	89,405,668 (GRCm39)	missense	possibly damaging	0.95
IGL02435:Or4a72	APN	2	89,405,890 (GRCm39)	missense	probably damaging	0.99
IGL02793:Or4a72	APN	2	89,405,896 (GRCm39)	missense	probably damaging	1.00
IGL02875:Or4a72	APN	2	89,405,896 (GRCm39)	missense	probably damaging	1.00
IGL03218:Or4a72	APN	2	89,405,935 (GRCm39)	missense	probably benign	0.09
IGL03392:Or4a72	APN	2	89,405,593 (GRCm39)	missense	probably damaging	0.96
H8786:Or4a72	UTSW	2	89,405,623 (GRCm39)	missense	probably damaging	1.00
I0000:Or4a72	UTSW	2	89,405,497 (GRCm39)	missense	probably damaging	1.00
R0044:Or4a72	UTSW	2	89,405,974 (GRCm39)	missense	possibly damaging	0.68
R0190:Or4a72	UTSW	2	89,405,302 (GRCm39)	missense	probably damaging	0.98
R1585:Or4a72	UTSW	2	89,405,746 (GRCm39)	missense	possibly damaging	0.89
R1902:Or4a72	UTSW	2	89,405,947 (GRCm39)	missense	possibly damaging	0.77
R2018:Or4a72	UTSW	2	89,405,737 (GRCm39)	missense	probably damaging	0.97
R2019:Or4a72	UTSW	2	89,405,737 (GRCm39)	missense	probably damaging	0.97
R2020:Or4a72	UTSW	2	89,405,305 (GRCm39)	missense	possibly damaging	0.88
R2021:Or4a72	UTSW	2	89,405,305 (GRCm39)	missense	possibly damaging	0.88
R2030:Or4a72	UTSW	2	89,405,558 (GRCm39)	missense	probably benign	0.00
R2133:Or4a72	UTSW	2	89,405,600 (GRCm39)	nonsense	probably null
R3850:Or4a72	UTSW	2	89,405,378 (GRCm39)	missense	probably damaging	0.99
R4066:Or4a72	UTSW	2	89,405,523 (GRCm39)	missense	probably damaging	1.00
R4754:Or4a72	UTSW	2	89,405,391 (GRCm39)	missense	probably benign
R4923:Or4a72	UTSW	2	89,406,023 (GRCm39)	missense	probably damaging	0.98
R5303:Or4a72	UTSW	2	89,405,345 (GRCm39)	missense	possibly damaging	0.88
R5574:Or4a72	UTSW	2	89,405,321 (GRCm39)	missense	possibly damaging	0.94
R6188:Or4a72	UTSW	2	89,405,538 (GRCm39)	nonsense	probably null
R6724:Or4a72	UTSW	2	89,405,309 (GRCm39)	missense	probably benign	0.26
R6964:Or4a72	UTSW	2	89,405,333 (GRCm39)	missense	probably benign
R7066:Or4a72	UTSW	2	89,406,047 (GRCm39)	missense	probably damaging	0.98
R7401:Or4a72	UTSW	2	89,405,449 (GRCm39)	missense	probably benign	0.27
R8232:Or4a72	UTSW	2	89,405,938 (GRCm39)	missense	noncoding transcript
R8558:Or4a72	UTSW	2	89,405,329 (GRCm39)	missense	probably damaging	1.00
R8708:Or4a72	UTSW	2	89,405,623 (GRCm39)	missense	probably damaging	1.00
R9482:Or4a72	UTSW	2	89,405,953 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTATAAAGAGCTGGCTCATGCAAG -3'
(R):5'- GAGCTTATCACTGTAGAAGACAATG -3'

Posted On

2017-07-14