Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Or4a72'

574147

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

045483-MU

Accession Numbers

Essential gene?

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

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89405056-89406117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89405449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 207 (V207A)

Ref Sequence

ENSEMBL: ENSMUSP00000150791 (fasta)

Gene Model

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

AlphaFold

A0A1L1SQJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000214870
AA Change: V207A

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217402
AA Change: V207A

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,268 (GRCm39)	L152Q	probably benign	Het
Abcg3	A	T	5: 105,114,640 (GRCm39)	N292K	probably damaging	Het
Adamts3	T	A	5: 89,855,309 (GRCm39)		probably null	Het
Adgrg7	T	C	16: 56,562,781 (GRCm39)	N519D	probably benign	Het
Adsl	A	G	15: 80,846,983 (GRCm39)	H263R	probably damaging	Het
Ak9	A	T	10: 41,299,000 (GRCm39)	D1567V	unknown	Het
Bscl2	T	C	19: 8,823,914 (GRCm39)	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,569,306 (GRCm39)	T873S	probably benign	Het
Cacna1c	T	C	6: 119,029,669 (GRCm39)		probably null	Het
Cast	G	T	13: 74,956,577 (GRCm39)	A18E	unknown	Het
Cd207	A	C	6: 83,654,830 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,203,678 (GRCm39)	S130P	probably benign	Het
Cfap52	A	T	11: 67,840,459 (GRCm39)	N157K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chaf1b	G	T	16: 93,681,268 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,215,870 (GRCm39)	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,466 (GRCm39)	V362I	probably benign	Het
Crem	A	G	18: 3,295,329 (GRCm39)	S80P	probably damaging	Het
Csnk1g3	C	T	18: 54,063,390 (GRCm39)	T267I	probably damaging	Het
Cyth1	A	T	11: 118,073,077 (GRCm39)	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,678,537 (GRCm39)	G594S	probably benign	Het
Enpp1	C	T	10: 24,521,180 (GRCm39)	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,622,979 (GRCm39)	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,759,479 (GRCm39)	V426L	probably benign	Het
Fes	A	G	7: 80,028,524 (GRCm39)		probably null	Het
Gmeb1	C	A	4: 131,953,085 (GRCm39)	L560F	probably damaging	Het
Hace1	T	C	10: 45,546,722 (GRCm39)	L452P	probably damaging	Het
Hecw2	T	A	1: 53,943,502 (GRCm39)	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1r2	T	A	1: 40,162,370 (GRCm39)	C338S	probably damaging	Het
Iqcn	T	C	8: 71,169,921 (GRCm39)	I1337T	probably benign	Het
Kcnb1	T	C	2: 167,030,204 (GRCm39)	S114G	probably damaging	Het
Lce1c	A	T	3: 92,587,623 (GRCm39)	T17S	unknown	Het
Lhfpl4	C	A	6: 113,153,627 (GRCm39)	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,279,594 (GRCm39)	E988G	possibly damaging	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Neurod1	T	A	2: 79,285,290 (GRCm39)	D31V	probably benign	Het
Neurod4	A	G	10: 130,106,927 (GRCm39)	C116R	probably damaging	Het
Nisch	A	G	14: 30,928,537 (GRCm39)	V28A	probably benign	Het
Odad1	A	C	7: 45,592,189 (GRCm39)	Q323P	probably damaging	Het
Or5d44	T	G	2: 88,141,772 (GRCm39)	M123L	probably benign	Het
Pabpc4l	T	A	3: 46,401,024 (GRCm39)	R207W	probably damaging	Het
Pabpc4l	A	T	3: 46,400,687 (GRCm39)	I319N	probably damaging	Het
Pcm1	G	A	8: 41,762,568 (GRCm39)	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,706,867 (GRCm39)	A557T	probably benign	Het
Prkdc	T	A	16: 15,466,602 (GRCm39)	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,046,959 (GRCm39)	V259A	probably benign	Het
Psmd3	A	T	11: 98,576,466 (GRCm39)	T123S	probably benign	Het
Ptgr2	G	T	12: 84,339,103 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,141 (GRCm39)	H66R	probably benign	Het
Rftn2	A	G	1: 55,233,401 (GRCm39)		probably null	Het
Rsph14	T	A	10: 74,865,628 (GRCm39)	E70V	possibly damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spag9	A	T	11: 93,988,515 (GRCm39)	T862S	probably benign	Het
Ssbp2	T	A	13: 91,839,002 (GRCm39)	D291E	probably benign	Het
Supt5	T	C	7: 28,023,197 (GRCm39)	K329E	probably damaging	Het
Syne2	G	T	12: 76,014,155 (GRCm39)	K3115N	probably damaging	Het
Tars1	A	T	15: 11,392,095 (GRCm39)	L239*	probably null	Het
Tbxa2r	T	C	10: 81,168,625 (GRCm39)	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743 (GRCm39)	D265E	probably damaging	Het
Tril	T	C	6: 53,795,266 (GRCm39)	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,873,268 (GRCm39)	R204G	probably null	Het
Twnk	A	G	19: 45,000,219 (GRCm39)	D645G	probably benign	Het
Umodl1	A	T	17: 31,217,122 (GRCm39)	D1118V	probably damaging	Het
Unc119	T	C	11: 78,238,071 (GRCm39)	I83T	probably benign	Het
Unc80	T	C	1: 66,685,574 (GRCm39)	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,910,416 (GRCm39)	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,790,067 (GRCm39)	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,728,806 (GRCm39)	L123S	probably damaging	Het
Zfpm2	A	G	15: 40,966,386 (GRCm39)	E957G	possibly 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
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
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'- AAAGTTGTAAACTGGTCGGGC -3'
(R):5'- TTTGGCCATCATGAATCGAAGGG -3'

Sequencing Primer
(F):5'- CTGGTCGGGCATACATAAAAATAC -3'
(R):5'- CCATCATGAATCGAAGGGTTTGC -3'

Posted On

2019-09-13