Mutagenetix > Incidental Mutation

Incidental Mutation 'R1585:Or4a72'

177409

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

039622-MU

Accession Numbers

Essential gene?

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

Stock #

R1585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89405056-89406117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89405746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 108 (V108D)

Gene Model

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

AlphaFold

A0A1L1SQJ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099766
AA Change: V108D

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: V108D

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: ENSMUST00000099773
AA Change: V108D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097361
Gene: ENSMUSG00000075083
AA Change: V108D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.2e-48	PFAM
Pfam:7tm_1	39	285	3e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214870
AA Change: V108D

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217402
AA Change: V108D

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

95% (81/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,858,518 (GRCm39)	I50F	possibly damaging	Het
4930505A04Rik	T	C	11: 30,377,175 (GRCm39)		probably benign	Het
Aadat	A	T	8: 60,979,714 (GRCm39)	D192V	possibly damaging	Het
Akap12	A	G	10: 4,303,640 (GRCm39)	D150G	probably benign	Het
Amigo3	A	T	9: 107,931,231 (GRCm39)	N218I	probably damaging	Het
Ankmy1	A	G	1: 92,827,373 (GRCm39)	S60P	probably benign	Het
Apol7e	G	A	15: 77,602,029 (GRCm39)	S209N	probably damaging	Het
AW551984	A	T	9: 39,510,632 (GRCm39)	Y234*	probably null	Het
Bcam	A	T	7: 19,494,111 (GRCm39)	D393E	probably damaging	Het
Card9	A	G	2: 26,244,398 (GRCm39)	L444P	probably benign	Het
Ccar1	T	C	10: 62,586,780 (GRCm39)	E886G	unknown	Het
Ccnb2	A	T	9: 70,317,559 (GRCm39)		probably null	Het
Cd276	T	C	9: 58,442,838 (GRCm39)	S206G	probably damaging	Het
Cds1	T	A	5: 101,965,828 (GRCm39)		probably benign	Het
Cfap96	G	A	8: 46,409,515 (GRCm39)	S268L	probably benign	Het
Chuk	T	C	19: 44,065,812 (GRCm39)	S661G	possibly damaging	Het
Col17a1	T	C	19: 47,639,276 (GRCm39)	N1090D	probably benign	Het
Col3a1	A	T	1: 45,367,026 (GRCm39)		probably null	Het
Crispld1	G	T	1: 17,821,024 (GRCm39)	V355F	possibly damaging	Het
Cspg4	A	T	9: 56,806,151 (GRCm39)	R2321W	probably damaging	Het
Dner	T	C	1: 84,563,177 (GRCm39)	T61A	probably benign	Het
Dnmt3a	A	T	12: 3,951,660 (GRCm39)	Y679F	probably damaging	Het
Dzip3	A	T	16: 48,798,241 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,968,381 (GRCm39)	S217P	possibly damaging	Het
Fbxo42	T	A	4: 140,925,417 (GRCm39)		probably benign	Het
Fhod1	A	T	8: 106,063,957 (GRCm39)		probably benign	Het
Fzd1	T	A	5: 4,806,278 (GRCm39)	I435F	probably damaging	Het
Gapvd1	C	T	2: 34,602,207 (GRCm39)	V647I	possibly damaging	Het
Gm14496	T	C	2: 181,638,002 (GRCm39)	S359P	possibly damaging	Het
Gm5218	C	A	15: 81,383,741 (GRCm39)		noncoding transcript	Het
Hnrnph3	A	G	10: 62,851,579 (GRCm39)		probably null	Het
Hsd17b12	G	T	2: 93,864,321 (GRCm39)	T262K	probably damaging	Het
Igsf10	G	C	3: 59,237,838 (GRCm39)	P781R	probably damaging	Het
Il11ra1	T	A	4: 41,768,207 (GRCm39)	S373T	probably damaging	Het
Kdm3b	A	G	18: 34,942,345 (GRCm39)	D612G	probably damaging	Het
Ldb1	T	C	19: 46,022,903 (GRCm39)	T261A	probably damaging	Het
Lep	C	A	6: 29,069,089 (GRCm39)	H47N	possibly damaging	Het
Lrrtm2	A	T	18: 35,346,428 (GRCm39)	S291R	possibly damaging	Het
Ncor2	T	C	5: 125,162,062 (GRCm39)	Q404R	unknown	Het
Nlrp4d	T	C	7: 10,116,437 (GRCm39)	H148R	probably benign	Het
Nlrp9a	T	A	7: 26,258,093 (GRCm39)	D570E	probably benign	Het
Nphp3	G	A	9: 103,886,413 (GRCm39)	V202I	probably damaging	Het
Nptn	T	A	9: 58,548,073 (GRCm39)	N159K	probably benign	Het
Or4a69	T	A	2: 89,313,315 (GRCm39)	T55S	probably benign	Het
Or51f2	G	A	7: 102,526,980 (GRCm39)	V218I	probably benign	Het
Or52a24	A	T	7: 103,381,585 (GRCm39)	T151S	possibly damaging	Het
Or8b53	A	T	9: 38,667,716 (GRCm39)	H244L	probably damaging	Het
Pcolce	T	A	5: 137,608,769 (GRCm39)	R13*	probably null	Het
Pdgfra	A	G	5: 75,353,264 (GRCm39)	Y1018C	probably damaging	Het
Prima1	A	G	12: 103,201,854 (GRCm39)	S74P	probably damaging	Het
Prl7c1	A	G	13: 27,962,838 (GRCm39)	L55P	probably damaging	Het
Rasef	A	G	4: 73,658,574 (GRCm39)	V513A	probably damaging	Het
Rgs1	T	C	1: 144,121,227 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,005,488 (GRCm39)	E1164G	probably benign	Het
Rnf213	A	T	11: 119,354,171 (GRCm39)	N4016I	probably damaging	Het
Sae1	C	T	7: 16,064,537 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,601,848 (GRCm39)	D207E	probably benign	Het
Setd2	T	A	9: 110,380,464 (GRCm39)	D33E	unknown	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Slc30a6	T	A	17: 74,725,610 (GRCm39)		probably benign	Het
Slc4a5	T	C	6: 83,242,669 (GRCm39)	L346P	probably damaging	Het
Spef2	T	A	15: 9,596,660 (GRCm39)	Q1473L	probably damaging	Het
St3gal3	G	T	4: 117,817,204 (GRCm39)	A44D	possibly damaging	Het
Sv2b	G	T	7: 74,797,425 (GRCm39)	T323K	probably damaging	Het
Sycp2	T	A	2: 177,993,461 (GRCm39)	N1228I	possibly damaging	Het
Thbs2	T	A	17: 14,910,030 (GRCm39)	M190L	probably benign	Het
Tnrc6a	G	A	7: 122,776,098 (GRCm39)	V1190I	probably benign	Het
Utrn	A	T	10: 12,312,029 (GRCm39)	I673K	possibly damaging	Het
Vmn2r114	C	T	17: 23,510,675 (GRCm39)	V602M	probably damaging	Het
Wdr7	A	T	18: 64,057,989 (GRCm39)	I1273L	probably benign	Het
Zfp618	T	C	4: 63,051,175 (GRCm39)	L652P	probably damaging	Het
Zfp804a	G	A	2: 81,884,095 (GRCm39)		probably benign	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
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
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'- GATAACTACCAAGATGTGGGAGCTGC -3'
(R):5'- ATCCACTGACAGGACTGATGGGAG -3'

Sequencing Primer
(F):5'- CTTAGGATGATTCCATAGGAGCC -3'
(R):5'- TGGTGACAGTCATTACCAGC -3'

Posted On

2014-04-24