Mutagenetix > Incidental Mutation

Incidental Mutation 'R3276:Or52r1c'

475826

Institutional Source

Beutler Lab

Gene Symbol

Or52r1c

Ensembl Gene

ENSMUSG00000073959

Gene Name

olfactory receptor family 52 subfamily R member 1C

Synonyms

MOR30-2, Olfr584, GA_x6K02T2PBJ9-5796876-5797820

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102734727-102735686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102734957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 72 (D72E)

Ref Sequence

ENSEMBL: ENSMUSP00000151043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098210] [ENSMUST00000211036] [ENSMUST00000214215]

AlphaFold

Q8VGW0

Predicted Effect

probably damaging
Transcript: ENSMUST00000098210
AA Change: D77E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095811
Gene: ENSMUSG00000073959
AA Change: D77E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	317	1.4e-110	PFAM
Pfam:7TM_GPCR_Srsx	42	234	2.1e-9	PFAM
Pfam:7tm_1	48	299	4.6e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211036
AA Change: D72E

Predicted Effect

probably damaging
Transcript: ENSMUST00000214215
AA Change: D72E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3246

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,233,495 (GRCm39)	R1269H	probably damaging	Het
Ace	A	G	11: 105,867,528 (GRCm39)	E164G	probably null	Het
Als2	A	T	1: 59,209,167 (GRCm39)	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,341,379 (GRCm39)	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Cdkn3	T	C	14: 47,008,934 (GRCm39)		probably benign	Het
Col16a1	A	G	4: 129,951,792 (GRCm39)	K72E	probably damaging	Het
Col6a5	G	A	9: 105,788,306 (GRCm39)	R1565*	probably null	Het
Col6a6	T	C	9: 105,663,429 (GRCm39)	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,483,047 (GRCm39)	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,418,436 (GRCm39)	F25L	probably benign	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Dhx58	A	G	11: 100,587,805 (GRCm39)	F584S	probably damaging	Het
Dmbt1	A	G	7: 130,689,801 (GRCm39)	T715A	probably benign	Het
Eogt	T	A	6: 97,108,355 (GRCm39)	I229F	probably benign	Het
Ern2	T	C	7: 121,780,187 (GRCm39)	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,608,522 (GRCm39)	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,684,935 (GRCm39)	Y346*	probably null	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Golga3	T	C	5: 110,349,864 (GRCm39)		probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,537,377 (GRCm39)	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063 (GRCm39)	I207V	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,798,920 (GRCm39)	I143T	possibly damaging	Het
Lrrk1	T	C	7: 65,955,269 (GRCm39)	K431E	possibly damaging	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Maml3	A	T	3: 51,764,351 (GRCm39)	N204K	possibly damaging	Het
Mmut	A	G	17: 41,269,763 (GRCm39)		probably null	Het
Mrpl19	T	C	6: 81,941,047 (GRCm39)	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,098,025 (GRCm39)	G954A	probably damaging	Het
Myo19	A	G	11: 84,783,001 (GRCm39)	I172V	probably benign	Het
Naca	T	C	10: 127,876,530 (GRCm39)		probably benign	Het
Nfatc2	T	C	2: 168,348,914 (GRCm39)	N638D	possibly damaging	Het
Nsun6	A	G	2: 15,014,215 (GRCm39)		probably benign	Het
Or8b49	T	A	9: 38,505,939 (GRCm39)	C141S	probably damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Prcd	A	G	11: 116,550,637 (GRCm39)	E103G	possibly damaging	Het
Prkx	A	T	X: 76,814,881 (GRCm39)	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,631,142 (GRCm39)		probably null	Het
Ranbp1	T	C	16: 18,065,293 (GRCm39)		probably benign	Het
Rb1cc1	T	A	1: 6,319,590 (GRCm39)	M1003K	probably benign	Het
Scap	A	T	9: 110,203,093 (GRCm39)	M256L	probably benign	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Septin4	T	C	11: 87,458,070 (GRCm39)	V148A	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,252,167 (GRCm39)	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Ube3a	T	A	7: 58,926,267 (GRCm39)	C348*	probably null	Het
Ubr4	T	A	4: 139,149,166 (GRCm39)	D1777E	probably benign	Het
Unc79	C	A	12: 103,079,476 (GRCm39)	D1880E	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Or52r1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Or52r1c	APN	7	102,735,582 (GRCm39)	missense	probably benign	0.00
IGL02113:Or52r1c	APN	7	102,735,057 (GRCm39)	missense	possibly damaging	0.95
IGL02398:Or52r1c	APN	7	102,735,313 (GRCm39)	missense	probably damaging	1.00
IGL02718:Or52r1c	APN	7	102,734,790 (GRCm39)	missense	probably benign	0.01
IGL02941:Or52r1c	APN	7	102,735,528 (GRCm39)	missense	probably benign	0.05
IGL02942:Or52r1c	APN	7	102,735,405 (GRCm39)	missense	probably benign	0.07
R0496:Or52r1c	UTSW	7	102,734,797 (GRCm39)	missense	probably damaging	1.00
R0511:Or52r1c	UTSW	7	102,735,058 (GRCm39)	missense	probably damaging	1.00
R0646:Or52r1c	UTSW	7	102,735,358 (GRCm39)	missense	probably damaging	0.99
R1652:Or52r1c	UTSW	7	102,735,013 (GRCm39)	missense	probably benign	0.04
R2312:Or52r1c	UTSW	7	102,735,633 (GRCm39)	missense	probably damaging	0.99
R2849:Or52r1c	UTSW	7	102,735,319 (GRCm39)	missense	probably damaging	1.00
R2937:Or52r1c	UTSW	7	102,735,548 (GRCm39)	missense	probably benign	0.01
R3176:Or52r1c	UTSW	7	102,734,957 (GRCm39)	missense	probably damaging	1.00
R3708:Or52r1c	UTSW	7	102,735,501 (GRCm39)	missense	probably damaging	1.00
R4737:Or52r1c	UTSW	7	102,735,121 (GRCm39)	missense	probably damaging	1.00
R5045:Or52r1c	UTSW	7	102,735,664 (GRCm39)	missense	probably benign	0.00
R5172:Or52r1c	UTSW	7	102,734,884 (GRCm39)	missense	probably damaging	1.00
R5849:Or52r1c	UTSW	7	102,734,728 (GRCm39)	start codon destroyed	probably null	0.02
R6294:Or52r1c	UTSW	7	102,734,874 (GRCm39)	missense	probably benign	0.01
R6846:Or52r1c	UTSW	7	102,735,265 (GRCm39)	missense	possibly damaging	0.88
R6869:Or52r1c	UTSW	7	102,735,075 (GRCm39)	missense	possibly damaging	0.47
R6936:Or52r1c	UTSW	7	102,735,021 (GRCm39)	missense	probably damaging	0.97
R7133:Or52r1c	UTSW	7	102,735,205 (GRCm39)	missense	probably damaging	0.99
R7724:Or52r1c	UTSW	7	102,735,470 (GRCm39)	nonsense	probably null
R7772:Or52r1c	UTSW	7	102,735,388 (GRCm39)	missense	probably benign	0.23
R9341:Or52r1c	UTSW	7	102,735,324 (GRCm39)	nonsense	probably null
R9343:Or52r1c	UTSW	7	102,735,324 (GRCm39)	nonsense	probably null
R9718:Or52r1c	UTSW	7	102,735,196 (GRCm39)	missense	probably benign	0.00
R9752:Or52r1c	UTSW	7	102,735,669 (GRCm39)	missense	probably benign	0.03

Predicted Primers

Posted On

2017-05-11