Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Per3'

539271

Institutional Source

Beutler Lab

Gene Symbol

Per3

Ensembl Gene

ENSMUSG00000028957

Gene Name

period circadian clock 3

Synonyms

2810049O06Rik, mPer3

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151088109-151129122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151128106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 61 (M61V)

Ref Sequence

ENSEMBL: ENSMUSP00000118950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030797] [ENSMUST00000103204] [ENSMUST00000136398] [ENSMUST00000169423]

AlphaFold

O70361

Predicted Effect

probably benign
Transcript: ENSMUST00000030797

SMART Domains

Protein: ENSMUSP00000030797
Gene: ENSMUSG00000028955

Domain	Start	End	E-Value	Type
Pfam:Synaptobrevin	15	103	4.2e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103204
AA Change: M61V

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957
AA Change: M61V

Domain	Start	End	E-Value	Type
PAS	115	187	2.86e1	SMART
PAS	258	324	1.31e-5	SMART
PAC	333	376	1.52e-1	SMART
low complexity region	414	427	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC
low complexity region	799	814	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
Pfam:Period_C	905	1111	4.4e-34	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136398
AA Change: M61V

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118950
Gene: ENSMUSG00000028957
AA Change: M61V

Domain	Start	End	E-Value	Type
PAS	115	187	2.86e1	SMART
PAS	258	324	1.31e-5	SMART
PAC	333	376	3.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169423

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

Domain	Start	End	E-Value	Type
CG-1	67	183	1.39e-91	SMART
low complexity region	550	583	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
Pfam:TIG	874	954	3.1e-11	PFAM
low complexity region	997	1030	N/A	INTRINSIC
ANK	1066	1095	1.7e2	SMART
ANK	1111	1141	4.73e2	SMART
low complexity region	1301	1319	N/A	INTRINSIC
IQ	1548	1564	2.38e2	SMART
IQ	1578	1600	5.42e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit a shorter circadian cycle length. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,422,390 (GRCm39)	L334I	probably damaging	Het
Akap9	T	A	5: 4,010,551 (GRCm39)	M436K	probably benign	Het
Ankmy1	A	C	1: 92,816,173 (GRCm39)	F314V	probably null	Het
Arid5b	G	A	10: 68,022,042 (GRCm39)	Q183*	probably null	Het
Atp8b4	A	T	2: 126,200,834 (GRCm39)	L778*	probably null	Het
BC024139	G	T	15: 76,004,221 (GRCm39)	N739K	probably benign	Het
Carns1	T	G	19: 4,219,912 (GRCm39)	H441P	probably benign	Het
Cby2	T	A	14: 75,830,098 (GRCm39)	T32S	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,523 (GRCm39)	W394R	probably damaging	Het
Cfap70	T	A	14: 20,459,153 (GRCm39)	I693F	probably benign	Het
Cldn3	A	G	5: 135,015,426 (GRCm39)	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,796,686 (GRCm39)	P1608L	probably benign	Het
Cr2	T	A	1: 194,853,454 (GRCm39)	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,424,512 (GRCm39)	I269F	probably damaging	Het
Dapk1	A	T	13: 60,844,256 (GRCm39)	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,759,771 (GRCm39)	L292*	probably null	Het
Dhx38	T	C	8: 110,286,231 (GRCm39)	E353G	probably benign	Het
Dnm3	T	C	1: 162,145,966 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,762,488 (GRCm39)	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,321,500 (GRCm39)	V351D	possibly damaging	Het
Epg5	T	A	18: 78,022,380 (GRCm39)	V1041E	probably benign	Het
Exoc4	A	G	6: 33,898,388 (GRCm39)	K869R	possibly damaging	Het
Fat3	C	A	9: 16,289,044 (GRCm39)	V160F	probably benign	Het
Gak	A	T	5: 108,750,816 (GRCm39)	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,360,104 (GRCm39)		probably null	Het
Gm21738	A	G	14: 19,415,933 (GRCm38)	M202T	probably benign	Het
Havcr2	C	T	11: 46,366,738 (GRCm39)	S177L	probably benign	Het
Hkdc1	G	C	10: 62,237,711 (GRCm39)	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,510,444 (GRCm39)	G200S	probably damaging	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Lair1	A	T	7: 4,058,952 (GRCm39)	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,562,293 (GRCm39)	N26D	probably damaging	Het
Lyst	T	A	13: 13,900,629 (GRCm39)	D3168E	probably benign	Het
Map6	G	A	7: 98,917,454 (GRCm39)	A76T	probably damaging	Het
Mcoln3	A	T	3: 145,843,011 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,587,312 (GRCm39)	F2718L	probably benign	Het
Nek11	C	G	9: 105,270,256 (GRCm39)		probably benign	Het
Or10n7-ps1	T	C	9: 39,597,832 (GRCm39)	E136G	unknown	Het
Or2z8	C	A	8: 72,811,574 (GRCm39)	L17I	probably benign	Het
Or4d6	A	G	19: 12,086,490 (GRCm39)	V140A	probably benign	Het
Pcdh15	A	T	10: 74,479,641 (GRCm39)	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,858,998 (GRCm39)	T18M	probably benign	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,156,947 (GRCm39)	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,789,035 (GRCm39)	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prkce	G	C	17: 86,800,835 (GRCm39)	G417A	probably damaging	Het
Ptar1	A	G	19: 23,680,501 (GRCm39)	N106D	probably damaging	Het
Rbm15	C	A	3: 107,239,627 (GRCm39)	R257L	probably benign	Het
Rptor	T	G	11: 119,647,171 (GRCm39)	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257 (GRCm39)	W350R	probably damaging	Het
Ryr2	T	G	13: 11,760,487 (GRCm39)	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,820,110 (GRCm39)	V379L	possibly damaging	Het
Sox8	C	T	17: 25,786,888 (GRCm39)	V272I	probably damaging	Het
Stard9	C	T	2: 120,533,111 (GRCm39)	H3123Y	probably benign	Het
Taar9	C	T	10: 23,984,910 (GRCm39)	E175K	possibly damaging	Het
Tinag	T	A	9: 76,908,897 (GRCm39)	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,965,687 (GRCm39)	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,118,342 (GRCm39)	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,657 (GRCm39)	Q366K	probably benign	Het
Txndc2	T	C	17: 65,945,286 (GRCm39)	D297G	probably benign	Het
Ulk4	A	G	9: 121,087,886 (GRCm39)	F269L	probably benign	Het
Vps39	A	T	2: 120,151,512 (GRCm39)	Y738*	probably null	Het

Other mutations in Per3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Per3	APN	4	151,098,055 (GRCm39)	missense	probably benign	0.28
IGL02112:Per3	APN	4	151,113,640 (GRCm39)	missense	probably benign	0.20
IGL02428:Per3	APN	4	151,102,674 (GRCm39)	critical splice donor site	probably null
IGL02812:Per3	APN	4	151,108,927 (GRCm39)	missense	probably damaging	0.99
IGL03094:Per3	APN	4	151,093,755 (GRCm39)	missense	probably damaging	1.00
R0119:Per3	UTSW	4	151,109,005 (GRCm39)	intron	probably benign
R0565:Per3	UTSW	4	151,118,409 (GRCm39)	missense	probably damaging	1.00
R0671:Per3	UTSW	4	151,113,288 (GRCm39)	missense	probably benign	0.27
R1186:Per3	UTSW	4	151,110,595 (GRCm39)	missense	probably damaging	0.99
R1736:Per3	UTSW	4	151,093,705 (GRCm39)	critical splice donor site	probably null
R1757:Per3	UTSW	4	151,127,249 (GRCm39)	critical splice acceptor site	probably null
R1900:Per3	UTSW	4	151,125,883 (GRCm39)	missense	probably damaging	1.00
R1929:Per3	UTSW	4	151,103,342 (GRCm39)	missense	probably damaging	1.00
R2044:Per3	UTSW	4	151,118,395 (GRCm39)	missense	probably benign	0.01
R2272:Per3	UTSW	4	151,103,342 (GRCm39)	missense	probably damaging	1.00
R2415:Per3	UTSW	4	151,097,147 (GRCm39)	missense	possibly damaging	0.91
R4771:Per3	UTSW	4	151,093,716 (GRCm39)	missense	probably damaging	1.00
R5199:Per3	UTSW	4	151,097,352 (GRCm39)	missense	probably benign	0.15
R5298:Per3	UTSW	4	151,113,666 (GRCm39)	missense	probably damaging	1.00
R5330:Per3	UTSW	4	151,125,759 (GRCm39)	missense	probably damaging	1.00
R5331:Per3	UTSW	4	151,125,759 (GRCm39)	missense	probably damaging	1.00
R5920:Per3	UTSW	4	151,096,907 (GRCm39)	missense	probably benign	0.05
R5974:Per3	UTSW	4	151,127,194 (GRCm39)	missense	possibly damaging	0.83
R6498:Per3	UTSW	4	151,113,662 (GRCm39)	missense	probably benign	0.27
R6907:Per3	UTSW	4	151,128,015 (GRCm39)	critical splice donor site	probably null
R7269:Per3	UTSW	4	151,116,393 (GRCm39)	nonsense	probably null
R7454:Per3	UTSW	4	151,097,185 (GRCm39)	missense	probably benign	0.05
R7555:Per3	UTSW	4	151,102,515 (GRCm39)	nonsense	probably null
R7771:Per3	UTSW	4	151,125,902 (GRCm39)	missense	probably damaging	1.00
R7771:Per3	UTSW	4	151,110,657 (GRCm39)	missense	probably damaging	1.00
R8071:Per3	UTSW	4	151,113,270 (GRCm39)	missense	probably damaging	1.00
R8079:Per3	UTSW	4	151,127,135 (GRCm39)	missense	possibly damaging	0.81
R8099:Per3	UTSW	4	151,097,014 (GRCm39)	missense	possibly damaging	0.92
R9153:Per3	UTSW	4	151,111,796 (GRCm39)	missense	probably benign	0.18
R9449:Per3	UTSW	4	151,094,945 (GRCm39)	missense	probably benign	0.02
R9566:Per3	UTSW	4	151,113,335 (GRCm39)	missense
R9585:Per3	UTSW	4	151,097,138 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TACATCAGCTTTAGACTTGCTTGTC -3'
(R):5'- AATGTCCCCTACCTGGAAGAG -3'

Sequencing Primer
(F):5'- GCTTGTCTTGGCTACAAATAAAGC -3'
(R):5'- TCCCCTACCTGGAAGAGAAAGG -3'

Posted On

2018-11-06