Mutagenetix > Incidental Mutation

Incidental Mutation 'R9616:Per1'

724602

Institutional Source

Beutler Lab

Gene Symbol

Per1

Ensembl Gene

ENSMUSG00000020893

Gene Name

period circadian clock 1

Synonyms

mPer1, m-rigui, Hftm

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R9616 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68986043-69000786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68993554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 368 (C368F)

Ref Sequence

ENSEMBL: ENSMUSP00000021271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021271] [ENSMUST00000101004] [ENSMUST00000102605] [ENSMUST00000132462] [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: C368F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893
AA Change: C368F

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 damaging
Transcript: ENSMUST00000101004
AA Change: C368F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893
AA Change: C368F

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: C348F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893
AA Change: C348F

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

probably damaging
Transcript: ENSMUST00000142392
AA Change: C368F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121713
Gene: ENSMUSG00000020893
AA Change: C368F

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: C368F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893
AA Change: C368F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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 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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040M04Rik	T	A	1: 151,080,480 (GRCm39)	D189E	probably benign	Het
Abca13	A	T	11: 9,240,501 (GRCm39)	H788L	probably benign	Het
Abcb1b	A	G	5: 8,862,779 (GRCm39)	I154V	probably benign	Het
Acsm4	A	G	7: 119,293,872 (GRCm39)	N81S	probably benign	Het
Adamts5	G	A	16: 85,659,674 (GRCm39)	H873Y	probably benign	Het
Aox4	C	T	1: 58,268,020 (GRCm39)	T200I	possibly damaging	Het
Arhgap33	A	G	7: 30,229,367 (GRCm39)	V336A	probably damaging	Het
Brca1	C	T	11: 101,416,683 (GRCm39)	E484K	probably damaging	Het
Capn13	T	A	17: 73,672,964 (GRCm39)	D113V	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,892,078 (GRCm39)	E274K		Het
Cfh	A	T	1: 140,030,254 (GRCm39)	I891K	probably damaging	Het
Cgn	A	G	3: 94,670,332 (GRCm39)	S1041P	probably damaging	Het
Cldn18	T	C	9: 99,580,915 (GRCm39)	D111G	probably benign	Het
Cnp	G	A	11: 100,467,261 (GRCm39)	R68Q	probably benign	Het
Cntn4	T	A	6: 106,674,525 (GRCm39)	C1008*	probably null	Het
Cntnap5a	T	C	1: 116,029,323 (GRCm39)	I259T	probably benign	Het
Cubn	A	G	2: 13,319,529 (GRCm39)	I2897T	probably benign	Het
Cyp2c39	T	A	19: 39,501,648 (GRCm39)	L67Q	probably damaging	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddc	C	T	11: 11,772,288 (GRCm39)	W349*	probably null	Het
Dennd3	A	G	15: 73,440,563 (GRCm39)	E1198G	probably benign	Het
Dnah1	T	C	14: 31,026,400 (GRCm39)	D826G	probably null	Het
Dpp4	T	C	2: 62,217,429 (GRCm39)	Y56C	probably damaging	Het
Etv6	A	G	6: 134,243,295 (GRCm39)	D350G	possibly damaging	Het
Fat1	C	A	8: 45,406,075 (GRCm39)	P942Q	probably damaging	Het
Fbxl5	A	G	5: 43,916,159 (GRCm39)	F418L	probably benign	Het
Fbxo11	T	A	17: 88,316,098 (GRCm39)	H368L		Het
Fhl2	G	T	1: 43,167,546 (GRCm39)	H182Q	probably damaging	Het
Gabpa	T	A	16: 84,649,461 (GRCm39)	C223S	probably damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Greb1	A	T	12: 16,790,038 (GRCm39)	N3K	probably damaging	Het
Hmcn1	T	G	1: 150,684,473 (GRCm39)	S366R	probably benign	Het
Il17b	A	G	18: 61,825,363 (GRCm39)	Q133R	probably benign	Het
Inha	T	A	1: 75,486,211 (GRCm39)	S169T	probably benign	Het
Itsn1	G	A	16: 91,650,055 (GRCm39)	R243H	probably benign	Het
Kcnu1	G	GA	8: 26,403,675 (GRCm39)		probably null	Het
Kdm1b	A	G	13: 47,234,030 (GRCm39)	E788G	probably damaging	Het
Kdm2a	A	T	19: 4,370,308 (GRCm39)	I1059N	probably damaging	Het
Klk1b9	G	T	7: 43,628,795 (GRCm39)	G100C	probably benign	Het
Knl1	T	C	2: 118,899,994 (GRCm39)	V565A	probably benign	Het
Knl1	A	T	2: 118,907,425 (GRCm39)	N1650Y	probably damaging	Het
Lpp	T	C	16: 24,580,719 (GRCm39)	V270A	probably benign	Het
Lrrc15	A	G	16: 30,092,517 (GRCm39)	L274P	probably damaging	Het
Mertk	C	T	2: 128,643,255 (GRCm39)	L885F	probably benign	Het
Mpst	T	A	15: 78,294,361 (GRCm39)	L31*	probably null	Het
Ms4a10	T	C	19: 10,944,440 (GRCm39)	T115A	possibly damaging	Het
Myof	A	G	19: 37,923,263 (GRCm39)	I1330T	possibly damaging	Het
Ncam2	T	C	16: 81,240,142 (GRCm39)	I201T	probably damaging	Het
Nefh	T	A	11: 4,889,443 (GRCm39)	K1059*	probably null	Het
Nek1	T	C	8: 61,473,107 (GRCm39)	Y168H	probably damaging	Het
Nek11	T	A	9: 105,082,011 (GRCm39)	T531S	probably damaging	Het
Nelfa	G	A	5: 34,059,127 (GRCm39)	P243S	possibly damaging	Het
Niban1	T	C	1: 151,512,193 (GRCm39)	Y32H	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Or13c7d	T	A	4: 43,770,193 (GRCm39)	K273*	probably null	Het
Or52b2	A	C	7: 104,986,520 (GRCm39)	Y134*	probably null	Het
Or9i16	A	G	19: 13,864,861 (GRCm39)	S238P	probably damaging	Het
Otof	A	G	5: 30,539,708 (GRCm39)	I1035T	possibly damaging	Het
Otud3	A	G	4: 138,624,925 (GRCm39)	Y259H	probably benign	Het
Pitrm1	G	T	13: 6,605,602 (GRCm39)	R183L	probably damaging	Het
Prl3a1	C	T	13: 27,459,118 (GRCm39)	A119V		Het
Pycard	C	T	7: 127,592,776 (GRCm39)	G17E	probably benign	Het
Rnf13	A	G	3: 57,740,430 (GRCm39)	D249G	possibly damaging	Het
Sdhaf2	T	C	19: 10,494,689 (GRCm39)	Y33C	probably damaging	Het
Sdk2	A	G	11: 113,691,061 (GRCm39)	V1838A	probably benign	Het
Sgo2b	C	T	8: 64,380,274 (GRCm39)	V853I	probably benign	Het
Slc1a4	T	C	11: 20,282,403 (GRCm39)	T24A	probably benign	Het
Slc8a1	T	C	17: 81,955,407 (GRCm39)	T544A	probably benign	Het
Sntg2	T	C	12: 30,326,732 (GRCm39)	N143S	probably benign	Het
Sphkap	T	C	1: 83,254,989 (GRCm39)	E920G	probably damaging	Het
Srgap2	T	A	1: 131,252,828 (GRCm39)	H132L		Het
Srgap3	A	T	6: 112,748,524 (GRCm39)	V376D	probably damaging	Het
Stxbp5l	T	C	16: 37,036,314 (GRCm39)	K434E	probably damaging	Het
Tab2	A	T	10: 7,795,005 (GRCm39)	N492K	possibly damaging	Het
Tbc1d32	T	C	10: 56,037,246 (GRCm39)	Q666R	possibly damaging	Het
Tekt4	T	C	17: 25,692,782 (GRCm39)		probably null	Het
Tnni3k	G	A	3: 154,667,724 (GRCm39)	Q230*	probably null	Het
Trp53bp1	A	C	2: 121,066,657 (GRCm39)	S690A	probably benign	Het
Trpa1	C	A	1: 14,989,077 (GRCm39)		probably benign	Het
Trpm1	T	G	7: 63,858,132 (GRCm39)	V324G	probably damaging	Het
Usp29	A	G	7: 6,966,179 (GRCm39)	E674G	possibly damaging	Het
Vmn2r59	T	C	7: 41,661,299 (GRCm39)	R839G	probably damaging	Het
Vmn2r6	A	G	3: 64,445,724 (GRCm39)	L667P	probably damaging	Het
Vmn2r91	T	A	17: 18,356,305 (GRCm39)	F657L	possibly damaging	Het
Vps13d	A	G	4: 144,824,701 (GRCm39)	V2923A		Het
Xylb	T	A	9: 119,201,022 (GRCm39)	L220Q	probably damaging	Het
Zbtb10	C	T	3: 9,316,473 (GRCm39)	T95M	probably benign	Het
Zfp263	C	T	16: 3,567,482 (GRCm39)	P599L	probably damaging	Het
Zfp532	A	G	18: 65,789,639 (GRCm39)	E1026G	probably benign	Het
Zfp78	A	G	7: 6,382,078 (GRCm39)	N376S	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
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
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
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'- CCAGATGACTCAGTCTCTGTGG -3'
(R):5'- CTCTTCTTATGAATGGCCAGCATG -3'

Sequencing Primer
(F):5'- ACTCAGTCTCTGTGGGCCATAAAG -3'
(R):5'- ATGGCCAGCATGAGGGGTC -3'

Posted On

2022-09-12