Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Per3'

629187

Institutional Source

Beutler Lab

Gene Symbol

Per3

Ensembl Gene

ENSMUSG00000028957

Gene Name

period circadian clock 3

Synonyms

2810049O06Rik, mPer3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R8079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

151088109-151129122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151127135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 129 (T129S)

Ref Sequence

ENSEMBL: ENSMUSP00000099493 (fasta)

Gene Model

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

AlphaFold

O70361

PDB Structure

Unwinding the Differences of the Mammalian PERIOD Clock Proteins from Crystal Structure to Cellular Function [X-RAY DIFFRACTION]

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: T129S

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957
AA Change: T129S

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

probably benign
Transcript: ENSMUST00000136398
AA Change: T129S

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118950
Gene: ENSMUSG00000028957
AA Change: T129S

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: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,221,186 (GRCm39)	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,170,656 (GRCm39)		probably null	Het
Akap10	G	A	11: 61,820,880 (GRCm39)	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,379,182 (GRCm39)	A27V	probably damaging	Het
Anxa8	A	G	14: 33,816,769 (GRCm39)	T246A	probably benign	Het
Arhgap5	A	G	12: 52,613,988 (GRCm39)	N1460S	probably benign	Het
Arid5b	T	G	10: 67,934,186 (GRCm39)	D572A	possibly damaging	Het
Atrn	T	A	2: 130,855,561 (GRCm39)	L1278Q	probably null	Het
AU040320	G	T	4: 126,725,953 (GRCm39)	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,731,112 (GRCm39)	R2085W	probably damaging	Het
Bbx	A	T	16: 50,030,821 (GRCm39)	N649K	probably damaging	Het
BC034090	G	A	1: 155,101,032 (GRCm39)	P411S	probably damaging	Het
Calcoco2	A	T	11: 95,998,363 (GRCm39)	F20Y	probably damaging	Het
Carmil2	A	G	8: 106,413,393 (GRCm39)	R50G	probably damaging	Het
Catspere2	A	G	1: 177,874,525 (GRCm39)	T131A	probably benign	Het
Cdcp1	C	A	9: 123,002,855 (GRCm39)	V739L	probably damaging	Het
Chit1	A	G	1: 134,071,765 (GRCm39)	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,436,763 (GRCm39)	I185T	probably damaging	Het
Dctpp1	C	A	7: 126,858,561 (GRCm39)	V61L	probably damaging	Het
Dip2a	T	C	10: 76,123,155 (GRCm39)	T760A	probably benign	Het
Dock10	C	T	1: 80,556,421 (GRCm39)	V552I	probably benign	Het
Dpp8	A	G	9: 64,951,017 (GRCm39)	E151G	probably damaging	Het
Dvl2	G	C	11: 69,898,344 (GRCm39)	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,703,643 (GRCm39)	I539N	probably damaging	Het
Frat2	A	T	19: 41,836,277 (GRCm39)	L25H	probably damaging	Het
Garnl3	A	T	2: 32,908,511 (GRCm39)		probably null	Het
Gh	T	C	11: 106,192,253 (GRCm39)	H47R	possibly damaging	Het
Glmp	T	C	3: 88,233,045 (GRCm39)	V61A	probably damaging	Het
Gm9925	T	C	18: 74,198,558 (GRCm39)	V129A	unknown	Het
H2-M9	T	A	17: 36,953,025 (GRCm39)	E94V	probably benign	Het
Hira	A	T	16: 18,744,507 (GRCm39)	Q408L	probably benign	Het
Hook3	A	G	8: 26,578,086 (GRCm39)		probably null	Het
Ifi206	G	A	1: 173,308,724 (GRCm39)	P424L		Het
Impdh2	T	C	9: 108,440,524 (GRCm39)	V270A	probably benign	Het
Klhl14	A	G	18: 21,785,022 (GRCm39)	I135T	probably benign	Het
Klra10	C	A	6: 130,252,738 (GRCm39)	V179L	probably benign	Het
Kmt2c	T	C	5: 25,507,730 (GRCm39)	S3236G	probably damaging	Het
Krt76	G	T	15: 101,796,825 (GRCm39)	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,266,992 (GRCm39)	G424C	probably damaging	Het
Limch1	A	G	5: 67,204,096 (GRCm39)	I878V	possibly damaging	Het
Lipi	C	T	16: 75,362,418 (GRCm39)		probably null	Het
Lrrc17	C	T	5: 21,766,069 (GRCm39)	R184W	probably damaging	Het
Mllt10	A	G	2: 18,128,567 (GRCm39)	N183D	probably damaging	Het
Mterf2	C	T	10: 84,956,027 (GRCm39)	G199D	probably damaging	Het
Mucl3	T	C	17: 35,949,084 (GRCm39)	T172A	unknown	Het
Nat8f4	A	T	6: 85,877,976 (GRCm39)	S182R	probably benign	Het
Ndrg3	C	A	2: 156,779,452 (GRCm39)	E238*	probably null	Het
Nop14	A	T	5: 34,811,805 (GRCm39)	L194H	probably damaging	Het
Obscn	T	C	11: 58,972,731 (GRCm39)	E2105G	possibly damaging	Het
Or5b104	A	C	19: 13,072,648 (GRCm39)	Y121*	probably null	Het
Or5g9	A	T	2: 85,552,387 (GRCm39)	T213S	probably benign	Het
Or7g17	A	T	9: 18,768,725 (GRCm39)	Y259F	possibly damaging	Het
Or8k32	T	A	2: 86,368,725 (GRCm39)	H176L	possibly damaging	Het
Pbx3	C	T	2: 34,068,240 (GRCm39)	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,279,197 (GRCm39)	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,816 (GRCm39)	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,034,271 (GRCm39)	S257T	probably damaging	Het
Pclo	A	T	5: 14,590,472 (GRCm39)	H924L	unknown	Het
Pi4ka	A	T	16: 17,120,924 (GRCm39)	M1270K		Het
Plec	G	A	15: 76,063,750 (GRCm39)	Q2277*	probably null	Het
Pnma1	T	A	12: 84,194,109 (GRCm39)	K198M	probably damaging	Het
Prc1	T	A	7: 79,954,515 (GRCm39)	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,441,962 (GRCm39)	T57A	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Robo4	A	G	9: 37,313,931 (GRCm39)	M61V	possibly damaging	Het
Rps12	C	T	10: 23,661,575 (GRCm39)	V79I	probably benign	Het
Rsph3a	A	G	17: 8,198,020 (GRCm39)	K466E	probably benign	Het
Scly	A	T	1: 91,236,089 (GRCm39)	I168F	probably damaging	Het
Setd1a	T	A	7: 127,384,225 (GRCm39)	F359I	unknown	Het
Sh3tc1	A	G	5: 35,864,201 (GRCm39)	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,834,372 (GRCm39)	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,364,281 (GRCm39)	R13Q	unknown	Het
Slco1a8	T	G	6: 141,933,460 (GRCm39)	M462L	probably benign	Het
Smarcad1	A	G	6: 65,029,766 (GRCm39)	D118G	possibly damaging	Het
Sos2	T	C	12: 69,653,989 (GRCm39)	T788A	probably damaging	Het
Syvn1	A	G	19: 6,098,396 (GRCm39)	E75G	probably null	Het
Thpo	T	C	16: 20,545,144 (GRCm39)	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,982,193 (GRCm39)	E78V	possibly damaging	Het
Uap1	A	G	1: 169,986,332 (GRCm39)	S217P	probably damaging	Het
Unc45a	T	G	7: 79,981,310 (GRCm39)	R497S	probably damaging	Het
Upf1	A	G	8: 70,791,534 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,646,177 (GRCm39)	K28M	probably damaging	Het
Wdr72	A	C	9: 74,126,054 (GRCm39)	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,421,646 (GRCm39)	C339S	probably damaging	Het
Zfp954	G	T	7: 7,118,470 (GRCm39)	T358K	probably benign	Het
Zmynd15	G	T	11: 70,350,278 (GRCm39)		probably benign	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
R6915:Per3	UTSW	4	151,128,106 (GRCm39)	missense	possibly damaging	0.84
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
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'- TCGCGTCTACCTTCAGACAG -3'
(R):5'- GGGATCGTCATCTAAGGAAATACAC -3'

Sequencing Primer
(F):5'- GCGTCTACCTTCAGACAGGATCTC -3'
(R):5'- CCTTAGCGTGCTGAGAAATGACTTC -3'

Posted On

2020-06-30