Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Per1'

584713

Institutional Source

Beutler Lab

Gene Symbol

Per1

Ensembl Gene

ENSMUSG00000020893

Gene Name

period circadian clock 1

Synonyms

mPer1, m-rigui

MMRRC Submission

Accession Numbers

Genbank: NM_011065; MGI:1098283

Is this an essential gene?

Possibly non essential (E-score: 0.478) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69095217-69109960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69106513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 838 (R838H)

Ref Sequence

ENSEMBL: ENSMUSP00000021271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021271] [ENSMUST00000101004] [ENSMUST00000102605] [ENSMUST00000142392] [ENSMUST00000166748]

AlphaFold

O35973

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021271
AA Change: R838H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893
AA Change: R838H

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
PAS	208	275	4.19e0	SMART
PAS	348	414	1.12e-4	SMART
PAC	422	465	1.6e0	SMART
low complexity region	473	481	N/A	INTRINSIC
low complexity region	513	543	N/A	INTRINSIC
low complexity region	571	578	N/A	INTRINSIC
low complexity region	652	666	N/A	INTRINSIC
low complexity region	747	772	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC
low complexity region	817	844	N/A	INTRINSIC
low complexity region	852	877	N/A	INTRINSIC
low complexity region	890	901	N/A	INTRINSIC
low complexity region	945	972	N/A	INTRINSIC
low complexity region	996	1013	N/A	INTRINSIC
Pfam:Period_C	1031	1222	1.5e-78	PFAM
low complexity region	1270	1280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101004

SMART Domains

Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
PAS	208	275	4.19e0	SMART
PAS	348	414	1.12e-4	SMART
PAC	422	465	1.6e0	SMART
low complexity region	473	481	N/A	INTRINSIC
low complexity region	513	543	N/A	INTRINSIC
low complexity region	571	578	N/A	INTRINSIC
low complexity region	652	666	N/A	INTRINSIC
low complexity region	747	772	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102605
AA Change: R818H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893
AA Change: R818H

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
Blast:PAS	203	255	1e-23	BLAST
PAS	328	394	1.12e-4	SMART
PAC	402	445	1.6e0	SMART
low complexity region	453	461	N/A	INTRINSIC
low complexity region	493	523	N/A	INTRINSIC
low complexity region	551	558	N/A	INTRINSIC
low complexity region	632	646	N/A	INTRINSIC
low complexity region	727	752	N/A	INTRINSIC
low complexity region	774	788	N/A	INTRINSIC
low complexity region	797	824	N/A	INTRINSIC
low complexity region	832	857	N/A	INTRINSIC
low complexity region	870	881	N/A	INTRINSIC
low complexity region	925	952	N/A	INTRINSIC
low complexity region	976	993	N/A	INTRINSIC
Pfam:Period_C	1011	1210	7.5e-75	PFAM
low complexity region	1250	1260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142392

SMART Domains

Protein: ENSMUSP00000121713
Gene: ENSMUSG00000020893

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
PAS	208	275	4.19e0	SMART
PAS	348	414	1.12e-4	SMART
PAC	422	465	1.6e0	SMART
low complexity region	473	481	N/A	INTRINSIC
low complexity region	513	543	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166748
AA Change: R838H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893
AA Change: R838H

Domain	Start	End	E-Value	Type
low complexity region	48	115	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
PAS	208	275	4.19e0	SMART
PAS	348	414	1.12e-4	SMART
PAC	422	465	1.6e0	SMART
low complexity region	473	481	N/A	INTRINSIC
low complexity region	513	543	N/A	INTRINSIC
low complexity region	571	578	N/A	INTRINSIC
low complexity region	652	666	N/A	INTRINSIC
low complexity region	747	772	N/A	INTRINSIC
low complexity region	794	808	N/A	INTRINSIC
low complexity region	817	844	N/A	INTRINSIC
low complexity region	852	877	N/A	INTRINSIC
low complexity region	890	901	N/A	INTRINSIC
low complexity region	945	972	N/A	INTRINSIC
low complexity region	996	1013	N/A	INTRINSIC
Pfam:Period_C	1031	1230	5.2e-75	PFAM
low complexity region	1270	1280	N/A	INTRINSIC

Meta Mutation Damage Score

0.0725

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

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 may increase the risk of getting certain cancers. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice display a persistent circadian rhythm, but they have a shorter period and their ability to maintain the precision and the stability of the period is impaired. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(3) Gene trapped(5)

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	A	4: 144,522,354	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,143,473	H502R	probably benign	Het
Adgrf4	T	C	17: 42,672,603	S63G	probably benign	Het
Agbl2	C	A	2: 90,791,555	L129I	probably damaging	Het
Ankrd11	C	A	8: 122,887,406	A2542S	probably damaging	Het
Armc9	A	G	1: 86,275,678	K818R	probably damaging	Het
Arsj	T	A	3: 126,438,236	C210*	probably null	Het
Aspscr1	C	T	11: 120,673,100	A11V	unknown	Het
Bicc1	G	T	10: 70,956,291	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,685,979	Q73P	probably benign	Het
Capn15	G	T	17: 25,963,432	D567E	probably damaging	Het
Catsperg1	A	C	7: 29,189,814	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,041,817	H72N	unknown	Het
Ccser2	A	T	14: 36,879,500	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,987,101	S59G	probably benign	Het
Chml	G	A	1: 175,687,890	P155L	probably benign	Het
Csmd2	C	T	4: 128,452,458	P1504S		Het
Dcbld2	A	G	16: 58,448,718		probably null	Het
Ddx21	C	T	10: 62,598,243	E246K	probably benign	Het
Dhx29	C	T	13: 112,927,642		probably benign	Het
Dis3l	A	C	9: 64,311,937	Y570*	probably null	Het
Dnah14	T	A	1: 181,770,054	Y3623N	probably benign	Het
Dock8	A	G	19: 25,175,400	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,630,625	S1669P	probably benign	Het
Eif2ak4	T	A	2: 118,417,283	I267N	possibly damaging	Het
Ern2	A	T	7: 122,170,241	V854E	probably damaging	Het
Fuca2	G	A	10: 13,507,430		probably null	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gm1110	T	A	9: 26,893,628	T380S	probably benign	Het
Gm13128	T	C	4: 144,332,741	F341L	probably benign	Het
Gm5788	A	C	12: 87,494,735	K5N	unknown	Het
Gm6460	A	T	5: 11,597,612	N106Y	probably damaging	Het
Golga2	G	A	2: 32,288,166	R29H	probably benign	Het
Grik5	T	C	7: 25,060,597	E259G	probably benign	Het
Grm3	T	C	5: 9,570,000	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,645,670	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,612,403	C643R	probably damaging	Het
Hgfac	T	C	5: 35,042,628	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,604,874	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,075,153	L290*	probably null	Het
Homer3	A	G	8: 70,289,413	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,072,002	S141R	probably benign	Het
Hspa12b	C	T	2: 131,138,476	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,972,221	I231M	probably damaging	Het
Inhba	T	A	13: 16,017,637	N114K	probably benign	Het
Kmt2b	C	A	7: 30,569,410	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,395,365	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,546,862	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,234,363	K196R	probably benign	Het
Lrrn3	A	T	12: 41,452,911	M469K	probably benign	Het
Mafb	T	C	2: 160,365,829	E283G	probably damaging	Het
Mapt	C	A	11: 104,298,702	P182Q	probably benign	Het
Mmp14	G	T	14: 54,437,742	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,897,445	N82I	probably benign	Het
Nsun6	T	A	2: 14,996,339	T469S	possibly damaging	Het
Olfr1076	A	C	2: 86,509,347	D296A	probably damaging	Het
Olfr1342	T	C	4: 118,689,642	D270G	possibly damaging	Het
Olfr507	G	C	7: 108,622,726	A305P	probably damaging	Het
Osbpl5	A	T	7: 143,694,933	F631I	possibly damaging	Het
Otud3	G	T	4: 138,901,885	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,279	I418F	possibly damaging	Het
Per2	G	A	1: 91,435,135	P395S	probably damaging	Het
Per3	G	A	4: 151,018,058	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,550,761	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,927,826	T1227A	probably benign	Het
Psg17	C	T	7: 18,817,094	D279N	probably benign	Het
Rnf167	A	G	11: 70,650,797	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,276	S337P	probably damaging	Het
Sall1	T	C	8: 89,033,158	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,914,056	V590A	probably benign	Het
Setd1b	A	G	5: 123,157,757	D1102G	unknown	Het
Six2	C	A	17: 85,687,707	K82N	probably damaging	Het
Snx29	T	C	16: 11,400,942	M214T	probably benign	Het
Son	T	C	16: 91,658,922	L1519P	probably damaging	Het
Spin1	C	T	13: 51,149,049	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,323,603	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,701,976		probably null	Het
Themis	A	T	10: 28,781,702	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,255,730	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750	C171R	probably benign	Het
Tsg101	A	G	7: 46,913,411	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,274,706	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,715,044	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,227,675	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,171,691		probably null	Het
Zfp933	A	G	4: 147,826,132	F336L	probably damaging	Het

Other mutations in Per1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Per1	APN	11	69104199	missense	probably damaging	1.00
IGL01907:Per1	APN	11	69105599	missense	probably benign	0.00
IGL02078:Per1	APN	11	69104299	missense	probably damaging	1.00
IGL02296:Per1	APN	11	69102175	missense	probably damaging	1.00
IGL02677:Per1	APN	11	69106660	missense	probably benign	0.07
0152:Per1	UTSW	11	69104022	splice site	probably benign
IGL03048:Per1	UTSW	11	69104726	missense	probably damaging	0.99
P0043:Per1	UTSW	11	69102043	splice site	probably benign
R0089:Per1	UTSW	11	69104043	missense	probably benign	0.27
R0116:Per1	UTSW	11	69101880	splice site	probably benign
R0395:Per1	UTSW	11	69102277	missense	probably damaging	1.00
R0531:Per1	UTSW	11	69104190	missense	probably damaging	1.00
R0681:Per1	UTSW	11	69101201	missense	probably damaging	1.00
R0788:Per1	UTSW	11	69101359	splice site	probably benign
R1233:Per1	UTSW	11	69102211	missense	probably damaging	1.00
R1554:Per1	UTSW	11	69103627	missense	probably damaging	1.00
R3793:Per1	UTSW	11	69109301	missense	probably benign	0.30
R4706:Per1	UTSW	11	69100618	start gained	probably benign
R4716:Per1	UTSW	11	69101231	missense	probably damaging	1.00
R4965:Per1	UTSW	11	69104401	missense	probably benign	0.06
R5111:Per1	UTSW	11	69100786	missense	probably damaging	1.00
R5270:Per1	UTSW	11	69103598	missense	probably benign
R5583:Per1	UTSW	11	69103445	missense	probably damaging	1.00
R5588:Per1	UTSW	11	69107627	missense	probably damaging	1.00
R6184:Per1	UTSW	11	69102904	missense	probably damaging	1.00
R6430:Per1	UTSW	11	69104296	missense	probably damaging	1.00
R6819:Per1	UTSW	11	69101458	missense	probably damaging	1.00
R6911:Per1	UTSW	11	69103257	missense	probably damaging	1.00
R7158:Per1	UTSW	11	69104104	unclassified	probably benign
R7340:Per1	UTSW	11	69103182	missense	probably damaging	1.00
R7438:Per1	UTSW	11	69104735	missense	possibly damaging	0.79
R7513:Per1	UTSW	11	69105571	missense	probably benign	0.00
R7921:Per1	UTSW	11	69100779	missense	probably damaging	1.00
R8059:Per1	UTSW	11	69106483	missense	probably damaging	1.00
R8345:Per1	UTSW	11	69107556	missense	possibly damaging	0.63
R8408:Per1	UTSW	11	69109127	missense	possibly damaging	0.86
R9208:Per1	UTSW	11	69104810	missense	possibly damaging	0.50
R9424:Per1	UTSW	11	69108029	missense	probably damaging	0.98
R9555:Per1	UTSW	11	69104748	missense	probably benign	0.00
R9576:Per1	UTSW	11	69108029	missense	probably damaging	0.98
R9616:Per1	UTSW	11	69102728	missense	probably damaging	1.00
R9712:Per1	UTSW	11	69100649	missense	probably benign	0.38
X0023:Per1	UTSW	11	69103124	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCACATGCAGGGTGAGCAG -3'
(R):5'- TAGTTAGGGAGCACCAAGGC -3'

Sequencing Primer
(F):5'- CATGCAGGGTGAGCAGCTTTC -3'
(R):5'- CCATTGGGGTCACTAAGGG -3'

Posted On

2019-10-17