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, Hftm

MMRRC Submission

045623-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68986043-69000786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 68997339 bp (GRCm39)

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
Aadacl4fm1	T	A	4: 144,248,924 (GRCm39)	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,041,354 (GRCm39)	H502R	probably benign	Het
Adgrf4	T	C	17: 42,983,494 (GRCm39)	S63G	probably benign	Het
Agbl2	C	A	2: 90,621,899 (GRCm39)	L129I	probably damaging	Het
Ankrd11	C	A	8: 123,614,145 (GRCm39)	A2542S	probably damaging	Het
Armc9	A	G	1: 86,203,400 (GRCm39)	K818R	probably damaging	Het
Arsj	T	A	3: 126,231,885 (GRCm39)	C210*	probably null	Het
Aspscr1	C	T	11: 120,563,926 (GRCm39)	A11V	unknown	Het
Bicc1	G	T	10: 70,792,121 (GRCm39)	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,662,942 (GRCm39)	Q73P	probably benign	Het
Capn15	G	T	17: 26,182,406 (GRCm39)	D567E	probably damaging	Het
Catsperg1	A	C	7: 28,889,239 (GRCm39)	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,126,274 (GRCm39)	H72N	unknown	Het
Ccser2	A	T	14: 36,601,457 (GRCm39)	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,894,408 (GRCm39)	S59G	probably benign	Het
Chml	G	A	1: 175,515,456 (GRCm39)	P155L	probably benign	Het
Csmd2	C	T	4: 128,346,251 (GRCm39)	P1504S		Het
Dcbld2	A	G	16: 58,269,081 (GRCm39)		probably null	Het
Ddx21	C	T	10: 62,434,022 (GRCm39)	E246K	probably benign	Het
Dhx29	C	T	13: 113,064,176 (GRCm39)		probably benign	Het
Dis3l	A	C	9: 64,219,219 (GRCm39)	Y570*	probably null	Het
Dnah14	T	A	1: 181,597,619 (GRCm39)	Y3623N	probably benign	Het
Dock8	A	G	19: 25,152,764 (GRCm39)	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,597,059 (GRCm39)	S1669P	probably benign	Het
Eif1ad12	A	C	12: 87,541,505 (GRCm39)	K5N	unknown	Het
Eif2ak4	T	A	2: 118,247,764 (GRCm39)	I267N	possibly damaging	Het
Ern2	A	T	7: 121,769,464 (GRCm39)	V854E	probably damaging	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm1110	T	A	9: 26,804,924 (GRCm39)	T380S	probably benign	Het
Golga2	G	A	2: 32,178,178 (GRCm39)	R29H	probably benign	Het
Grik5	T	C	7: 24,760,022 (GRCm39)	E259G	probably benign	Het
Grm3	T	C	5: 9,620,000 (GRCm39)	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,244,842 (GRCm39)	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,589,803 (GRCm39)	C643R	probably damaging	Het
Hgfac	T	C	5: 35,199,972 (GRCm39)	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,480,625 (GRCm39)	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,312,610 (GRCm39)	L290*	probably null	Het
Homer3	A	G	8: 70,742,063 (GRCm39)	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,219,816 (GRCm39)	S141R	probably benign	Het
Hspa12b	C	T	2: 130,980,396 (GRCm39)	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,799,787 (GRCm39)	I231M	probably damaging	Het
Inhba	T	A	13: 16,192,222 (GRCm39)	N114K	probably benign	Het
Kmt2b	C	A	7: 30,268,835 (GRCm39)	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,483,061 (GRCm39)	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,382,731 (GRCm39)	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,363 (GRCm39)	K196R	probably benign	Het
Lrrn3	A	T	12: 41,502,910 (GRCm39)	M469K	probably benign	Het
Mafb	T	C	2: 160,207,749 (GRCm39)	E283G	probably damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mmp14	G	T	14: 54,675,199 (GRCm39)	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,927,711 (GRCm39)	N82I	probably benign	Het
Nsun6	T	A	2: 15,001,150 (GRCm39)	T469S	possibly damaging	Het
Or13p4	T	C	4: 118,546,839 (GRCm39)	D270G	possibly damaging	Het
Or5p79	G	C	7: 108,221,933 (GRCm39)	A305P	probably damaging	Het
Or8k30	A	C	2: 86,339,691 (GRCm39)	D296A	probably damaging	Het
Osbpl5	A	T	7: 143,248,670 (GRCm39)	F631I	possibly damaging	Het
Otud3	G	T	4: 138,629,196 (GRCm39)	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,332 (GRCm39)	I418F	possibly damaging	Het
Per2	G	A	1: 91,362,857 (GRCm39)	P395S	probably damaging	Het
Per3	G	A	4: 151,102,515 (GRCm39)	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,414,157 (GRCm39)	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,763,687 (GRCm39)	T1227A	probably benign	Het
Pramel30	T	C	4: 144,059,311 (GRCm39)	F341L	probably benign	Het
Psg17	C	T	7: 18,551,019 (GRCm39)	D279N	probably benign	Het
Rnf167	A	G	11: 70,541,623 (GRCm39)	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,362 (GRCm39)	S337P	probably damaging	Het
Sall1	T	C	8: 89,759,786 (GRCm39)	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,891,037 (GRCm39)	V590A	probably benign	Het
Setd1b	A	G	5: 123,295,820 (GRCm39)	D1102G	unknown	Het
Six2	C	A	17: 85,995,135 (GRCm39)	K82N	probably damaging	Het
Snx29	T	C	16: 11,218,806 (GRCm39)	M214T	probably benign	Het
Son	T	C	16: 91,455,810 (GRCm39)	L1519P	probably damaging	Het
Speer1h	A	T	5: 11,647,579 (GRCm39)	N106Y	probably damaging	Het
Spin1	C	T	13: 51,303,085 (GRCm39)	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,143,965 (GRCm39)	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422 (GRCm39)	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,920,950 (GRCm39)		probably null	Het
Themis	A	T	10: 28,657,698 (GRCm39)	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,145,742 (GRCm39)	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750 (GRCm39)	C171R	probably benign	Het
Tsg101	A	G	7: 46,563,159 (GRCm39)	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,303,547 (GRCm39)	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,692,026 (GRCm39)	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,447,937 (GRCm39)	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,319,557 (GRCm39)		probably null	Het
Zfp933	A	G	4: 147,910,589 (GRCm39)	F336L	probably damaging	Het

Other mutations in Per1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Per1	APN	11	68,995,025 (GRCm39)	missense	probably damaging	1.00
IGL01907:Per1	APN	11	68,996,425 (GRCm39)	missense	probably benign	0.00
IGL02078:Per1	APN	11	68,995,125 (GRCm39)	missense	probably damaging	1.00
IGL02296:Per1	APN	11	68,993,001 (GRCm39)	missense	probably damaging	1.00
IGL02677:Per1	APN	11	68,997,486 (GRCm39)	missense	probably benign	0.07
0152:Per1	UTSW	11	68,994,848 (GRCm39)	splice site	probably benign
IGL03048:Per1	UTSW	11	68,995,552 (GRCm39)	missense	probably damaging	0.99
P0043:Per1	UTSW	11	68,992,869 (GRCm39)	splice site	probably benign
R0089:Per1	UTSW	11	68,994,869 (GRCm39)	missense	probably benign	0.27
R0116:Per1	UTSW	11	68,992,706 (GRCm39)	splice site	probably benign
R0395:Per1	UTSW	11	68,993,103 (GRCm39)	missense	probably damaging	1.00
R0531:Per1	UTSW	11	68,995,016 (GRCm39)	missense	probably damaging	1.00
R0681:Per1	UTSW	11	68,992,027 (GRCm39)	missense	probably damaging	1.00
R0788:Per1	UTSW	11	68,992,185 (GRCm39)	splice site	probably benign
R1233:Per1	UTSW	11	68,993,037 (GRCm39)	missense	probably damaging	1.00
R1554:Per1	UTSW	11	68,994,453 (GRCm39)	missense	probably damaging	1.00
R3793:Per1	UTSW	11	69,000,127 (GRCm39)	missense	probably benign	0.30
R4706:Per1	UTSW	11	68,991,444 (GRCm39)	start gained	probably benign
R4716:Per1	UTSW	11	68,992,057 (GRCm39)	missense	probably damaging	1.00
R4965:Per1	UTSW	11	68,995,227 (GRCm39)	missense	probably benign	0.06
R5111:Per1	UTSW	11	68,991,612 (GRCm39)	missense	probably damaging	1.00
R5270:Per1	UTSW	11	68,994,424 (GRCm39)	missense	probably benign
R5583:Per1	UTSW	11	68,994,271 (GRCm39)	missense	probably damaging	1.00
R5588:Per1	UTSW	11	68,998,453 (GRCm39)	missense	probably damaging	1.00
R6184:Per1	UTSW	11	68,993,730 (GRCm39)	missense	probably damaging	1.00
R6430:Per1	UTSW	11	68,995,122 (GRCm39)	missense	probably damaging	1.00
R6819:Per1	UTSW	11	68,992,284 (GRCm39)	missense	probably damaging	1.00
R6911:Per1	UTSW	11	68,994,083 (GRCm39)	missense	probably damaging	1.00
R7158:Per1	UTSW	11	68,994,930 (GRCm39)	unclassified	probably benign
R7340:Per1	UTSW	11	68,994,008 (GRCm39)	missense	probably damaging	1.00
R7438:Per1	UTSW	11	68,995,561 (GRCm39)	missense	possibly damaging	0.79
R7513:Per1	UTSW	11	68,996,397 (GRCm39)	missense	probably benign	0.00
R7921:Per1	UTSW	11	68,991,605 (GRCm39)	missense	probably damaging	1.00
R8059:Per1	UTSW	11	68,997,309 (GRCm39)	missense	probably damaging	1.00
R8345:Per1	UTSW	11	68,998,382 (GRCm39)	missense	possibly damaging	0.63
R8408:Per1	UTSW	11	68,999,953 (GRCm39)	missense	possibly damaging	0.86
R9208:Per1	UTSW	11	68,995,636 (GRCm39)	missense	possibly damaging	0.50
R9424:Per1	UTSW	11	68,998,855 (GRCm39)	missense	probably damaging	0.98
R9555:Per1	UTSW	11	68,995,574 (GRCm39)	missense	probably benign	0.00
R9576:Per1	UTSW	11	68,998,855 (GRCm39)	missense	probably damaging	0.98
R9616:Per1	UTSW	11	68,993,554 (GRCm39)	missense	probably damaging	1.00
R9712:Per1	UTSW	11	68,991,475 (GRCm39)	missense	probably benign	0.38
X0023:Per1	UTSW	11	68,993,950 (GRCm39)	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