Mutagenetix > Incidental Mutation

Incidental Mutation 'R5303:Or4a72'

404331

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

042886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R5303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89405056-89406117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89405345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 242 (I242F)

Gene Model

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

AlphaFold

A0A1L1SQJ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099766
AA Change: I242F

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: I242F

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

possibly damaging
Transcript: ENSMUST00000214870
AA Change: I242F

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217402
AA Change: I242F

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (63/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
4921504E06Rik	A	G	2: 19,521,110 (GRCm39)	Y256H	possibly damaging	Het
Abcc12	C	A	8: 87,236,415 (GRCm39)	R1133L	probably benign	Het
Acss3	T	A	10: 106,920,712 (GRCm39)	T133S	possibly damaging	Het
Adra1d	G	A	2: 131,388,169 (GRCm39)	P462L	possibly damaging	Het
Ank2	A	T	3: 126,739,453 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,290,349 (GRCm39)	R1748Q	probably damaging	Het
B3glct	C	T	5: 149,677,488 (GRCm39)		probably benign	Het
C3ar1	A	T	6: 122,826,794 (GRCm39)	S474R	probably damaging	Het
Cd1d1	A	G	3: 86,905,427 (GRCm39)	F189L	probably benign	Het
Cd46	T	C	1: 194,744,707 (GRCm39)	I344V	probably benign	Het
Chrna1	T	C	2: 73,396,618 (GRCm39)	M426V	probably benign	Het
Cinp	G	A	12: 110,843,295 (GRCm39)	T139M	probably damaging	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,641,329 (GRCm39)		probably benign	Het
Dnaaf6rt	G	A	1: 31,262,537 (GRCm39)	R173H	probably damaging	Het
Eapp	G	A	12: 54,739,703 (GRCm39)	P38L	probably damaging	Het
Eif4g3	T	C	4: 137,853,873 (GRCm39)	S480P	probably benign	Het
Epb41l3	G	C	17: 69,564,444 (GRCm39)	E390Q	probably damaging	Het
Fermt1	T	C	2: 132,753,259 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,463 (GRCm39)	F134Y	possibly damaging	Het
Foxp2	T	A	6: 15,324,636 (GRCm39)	C95S	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gria1	A	G	11: 57,133,851 (GRCm39)	T577A	probably benign	Het
Hal	A	G	10: 93,352,227 (GRCm39)		probably benign	Het
Hdac7	C	A	15: 97,695,899 (GRCm39)	E670D	probably damaging	Het
Islr2	A	T	9: 58,115,558 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,335,663 (GRCm39)	Y2258H	probably benign	Het
Mical3	G	T	6: 120,936,941 (GRCm39)	T1195K	probably benign	Het
Myh1	T	C	11: 67,092,843 (GRCm39)	S46P	probably benign	Het
Mylk3	T	A	8: 86,077,105 (GRCm39)	I444F	probably damaging	Het
Nlrc3	A	T	16: 3,781,478 (GRCm39)	C644S	probably benign	Het
Notch1	C	T	2: 26,368,631 (GRCm39)	V553M	probably benign	Het
Or10g9	A	G	9: 39,911,884 (GRCm39)	I213T	probably damaging	Het
Or51a43	T	C	7: 103,718,239 (GRCm39)		probably benign	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Postn	A	G	3: 54,285,018 (GRCm39)	T669A	probably damaging	Het
Ppp5c	G	T	7: 16,739,209 (GRCm39)	Q472K	probably benign	Het
Qsox1	T	C	1: 155,655,039 (GRCm39)	H708R	probably benign	Het
Rhbdl2	A	G	4: 123,704,014 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,767,907 (GRCm39)	E2884K	probably damaging	Het
Saysd1	T	C	14: 20,133,026 (GRCm39)	T44A	probably benign	Het
Septin14	T	A	5: 129,766,712 (GRCm39)	M290L	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc38a8	C	A	8: 120,212,780 (GRCm39)	V294L	possibly damaging	Het
Spdye4b	C	T	5: 143,188,158 (GRCm39)	T217I	probably benign	Het
Sugp2	T	A	8: 70,694,827 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,370,464 (GRCm39)	T232A	probably benign	Het
Tbc1d5	A	T	17: 51,043,228 (GRCm39)	D753E	probably benign	Het
Tmed1	G	T	9: 21,421,343 (GRCm39)	Q44K	possibly damaging	Het
Ttc6	T	A	12: 57,622,606 (GRCm39)	S2T	possibly damaging	Het
Ube4b	T	C	4: 149,468,260 (GRCm39)	D172G	probably damaging	Het
Vmn1r235	C	A	17: 21,482,268 (GRCm39)	Q198K	probably benign	Het
Wdfy3	T	C	5: 102,100,849 (GRCm39)	H256R	probably damaging	Het
Zfat	A	T	15: 67,982,335 (GRCm39)	H1059Q	probably damaging	Het
Zfp758	A	G	17: 22,593,842 (GRCm39)	I77M	probably benign	Het
Zfp850	C	T	7: 27,707,838 (GRCm39)	A2T	probably damaging	Het
Zfyve1	A	T	12: 83,621,830 (GRCm39)	N188K	probably damaging	Het
Zyg11a	C	T	4: 108,041,629 (GRCm39)		probably null	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
R5574:Or4a72	UTSW	2	89,405,321 (GRCm39)	missense	possibly damaging	0.94
R6083:Or4a72	UTSW	2	89,406,016 (GRCm39)	missense	probably benign	0.42
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'- TGCAGATAGAATTTTGCACCAG -3'
(R):5'- GACTGGTGGTTTTACACACTCTC -3'

Sequencing Primer
(F):5'- GCACCAGAGCTTTTTCATACAAG -3'
(R):5'- CCATTATTGGTACTTGCATGCACAG -3'

Posted On

2016-07-22