Mutagenetix > Incidental Mutation

Incidental Mutation 'R0089:Per1'

20082

Institutional Source

Beutler Lab

Gene Symbol

Per1

Ensembl Gene

ENSMUSG00000020893

Gene Name

period circadian clock 1

Synonyms

mPer1, m-rigui, Hftm

MMRRC Submission

038376-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R0089 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

68986043-69000786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68994869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 563 (F563S)

Ref Sequence

ENSEMBL: ENSMUSP00000099665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021271] [ENSMUST00000101004] [ENSMUST00000102605] [ENSMUST00000132462] [ENSMUST00000142392] [ENSMUST00000166748]

AlphaFold

O35973

Predicted Effect

probably benign
Transcript: ENSMUST00000021271
AA Change: F583S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893
AA Change: F583S

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
AA Change: F583S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893
AA Change: F583S

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 benign
Transcript: ENSMUST00000102605
AA Change: F563S

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893
AA Change: F563S

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: ENSMUST00000132462

SMART Domains

Protein: ENSMUSP00000122164
Gene: ENSMUSG00000020893

Domain	Start	End	E-Value	Type
low complexity region	48	81	N/A	INTRINSIC
low complexity region	86	104	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000142392
AA Change: S548P

SMART Domains

Protein: ENSMUSP00000121713
Gene: ENSMUSG00000020893
AA Change: S548P

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 benign
Transcript: ENSMUST00000166748
AA Change: F583S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893
AA Change: F583S

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

0.1781

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,303 (GRCm39)	H163L	probably benign	Het
Abca13	T	A	11: 9,242,886 (GRCm39)	V1583E	possibly damaging	Het
Ablim1	G	T	19: 57,031,463 (GRCm39)	S654Y	probably damaging	Het
Acbd4	T	C	11: 102,994,819 (GRCm39)	F59S	probably damaging	Het
Acot1	T	C	12: 84,063,708 (GRCm39)	I272T	probably damaging	Het
Ankhd1	A	G	18: 36,773,409 (GRCm39)	D1402G	probably damaging	Het
Birc6	T	A	17: 74,945,371 (GRCm39)	F2800I	possibly damaging	Het
Brd1	T	C	15: 88,585,401 (GRCm39)	E811G	probably benign	Het
Catspere2	C	T	1: 177,874,555 (GRCm39)	P141S	unknown	Het
Ccdc106	A	G	7: 5,059,220 (GRCm39)		probably null	Het
Ccdc81	G	T	7: 89,542,324 (GRCm39)	A184E	possibly damaging	Het
Cenpt	T	C	8: 106,573,000 (GRCm39)	T364A	probably benign	Het
Crybg2	T	C	4: 133,808,505 (GRCm39)	S1060P	probably damaging	Het
Dnttip2	A	G	3: 122,069,111 (GRCm39)	T109A	possibly damaging	Het
Dpy19l2	A	G	9: 24,607,089 (GRCm39)	L124P	probably benign	Het
Eif1ad19	A	T	12: 87,740,283 (GRCm39)	I92N	probably damaging	Het
Fat3	T	C	9: 15,849,501 (GRCm39)	D3967G	probably benign	Het
Fbxo21	T	A	5: 118,146,208 (GRCm39)	F610L	probably benign	Het
Fmo9	T	C	1: 166,494,878 (GRCm39)	D341G	probably benign	Het
Frem3	A	T	8: 81,342,507 (GRCm39)	H1600L	possibly damaging	Het
Fry	A	T	5: 150,263,892 (GRCm39)	K133N	possibly damaging	Het
Gm10647	A	G	9: 66,705,612 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,906,119 (GRCm39)	F472S	probably benign	Het
Grb10	T	C	11: 11,884,192 (GRCm39)		probably benign	Het
Grm6	G	A	11: 50,750,792 (GRCm39)	G652S	probably damaging	Het
Heca	G	T	10: 17,783,848 (GRCm39)	D468E	probably damaging	Het
Heg1	C	T	16: 33,583,985 (GRCm39)	S1033L	probably damaging	Het
Hepacam2	A	G	6: 3,487,094 (GRCm39)	S12P	probably damaging	Het
Impdh1	G	T	6: 29,206,325 (GRCm39)	H195N	probably benign	Het
Ipo7	T	C	7: 109,649,972 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,251,520 (GRCm39)		probably null	Het
Kcnh6	G	A	11: 105,899,848 (GRCm39)	C39Y	probably benign	Het
Kif26a	T	C	12: 112,143,837 (GRCm39)	S1364P	probably damaging	Het
Lins1	T	A	7: 66,361,796 (GRCm39)		probably benign	Het
Lrpap1	C	T	5: 35,252,232 (GRCm39)	V328M	possibly damaging	Het
Lyn	T	G	4: 3,748,768 (GRCm39)	L249V	probably benign	Het
Mpp7	A	G	18: 7,439,555 (GRCm39)		probably benign	Het
Mtmr9	A	G	14: 63,765,696 (GRCm39)	F400L	possibly damaging	Het
Mto1	G	A	9: 78,381,154 (GRCm39)	S666N	probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nsg1	T	C	5: 38,312,974 (GRCm39)	E75G	probably benign	Het
Nsun4	A	G	4: 115,892,970 (GRCm39)	M283T	probably benign	Het
Obscn	A	G	11: 58,890,888 (GRCm39)	S7215P	unknown	Het
Or11j4	T	C	14: 50,630,321 (GRCm39)	I36T	probably benign	Het
Or13a20	T	C	7: 140,232,224 (GRCm39)	S111P	probably damaging	Het
Or1j12	G	A	2: 36,343,107 (GRCm39)	R170K	probably benign	Het
Or2y13	G	A	11: 49,415,033 (GRCm39)	S161N	possibly damaging	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5al1	A	C	2: 85,989,918 (GRCm39)	S265R	possibly damaging	Het
Or9m1b	T	C	2: 87,836,331 (GRCm39)	I264V	probably damaging	Het
Pik3c3	T	A	18: 30,436,131 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,605,675 (GRCm39)	K207N	probably damaging	Het
Prdm10	C	T	9: 31,227,526 (GRCm39)	R44C	probably damaging	Het
Rab40c	A	T	17: 26,104,122 (GRCm39)	I90N	probably damaging	Het
Rbl1	A	G	2: 157,041,334 (GRCm39)		probably null	Het
Rnf17	G	A	14: 56,751,563 (GRCm39)	G1467E	probably damaging	Het
Rpgrip1	A	G	14: 52,386,841 (GRCm39)		probably benign	Het
Sall1	A	T	8: 89,756,896 (GRCm39)	N1069K	probably benign	Het
Scap	T	C	9: 110,201,290 (GRCm39)	I93T	possibly damaging	Het
Sez6	T	C	11: 77,865,170 (GRCm39)		probably benign	Het
Slc22a30	A	T	19: 8,347,561 (GRCm39)	S280T	probably benign	Het
Slc26a5	A	C	5: 22,016,342 (GRCm39)		probably null	Het
St18	T	C	1: 6,919,172 (GRCm39)	V901A	probably benign	Het
Syne2	T	C	12: 76,010,650 (GRCm39)	L2519P	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tmem51	T	C	4: 141,759,236 (GRCm39)	T171A	probably benign	Het
Tns4	A	T	11: 98,966,024 (GRCm39)	I453N	probably damaging	Het
Trank1	A	T	9: 111,221,978 (GRCm39)	H2905L	probably benign	Het
Trim13	C	T	14: 61,842,166 (GRCm39)	T61I	possibly damaging	Het
Trim75	T	C	8: 65,435,580 (GRCm39)	Q290R	possibly damaging	Het
Ttn	C	A	2: 76,559,544 (GRCm39)	R29619L	probably damaging	Het
Ugt2b38	T	A	5: 87,568,417 (GRCm39)	M293L	probably benign	Het
Vmn1r22	T	A	6: 57,877,513 (GRCm39)	N155Y	probably benign	Het
Vmn2r18	T	C	5: 151,508,269 (GRCm39)	Y285C	probably benign	Het
Vmn2r84	C	T	10: 130,222,588 (GRCm39)		probably benign	Het
Vwde	A	C	6: 13,220,004 (GRCm39)	L49R	probably damaging	Het
Yipf2	T	A	9: 21,503,262 (GRCm39)	E68D	possibly damaging	Het
Zfand5	C	A	19: 21,257,122 (GRCm39)		probably benign	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
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
R7555:Per1	UTSW	11	68,997,339 (GRCm39)	missense	probably damaging	1.00
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'- TGCATCTGGTAAAGCACCAGGGAC -3'
(R):5'- AGGAGGCACATTTACGCTTGGTTG -3'

Sequencing Primer
(F):5'- AGGGACAACAGCTCTTCATTG -3'
(R):5'- TGCAGCTCTCCAAATACCTGG -3'

Posted On

2013-04-11