Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Per1'

730268

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

Essential gene?

Possibly non essential (E-score: 0.491) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69095217-69109960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 69100649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 3 (G3V)

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 benign
Transcript: ENSMUST00000021271
AA Change: G3V

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893
AA Change: G3V

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: G3V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893
AA Change: G3V

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

possibly damaging
Transcript: ENSMUST00000102605
AA Change: G3V

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893
AA Change: G3V

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
AA Change: G3V

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122164
Gene: ENSMUSG00000020893
AA Change: G3V

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: G3V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121713
Gene: ENSMUSG00000020893
AA Change: G3V

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: G3V

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893
AA Change: G3V

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: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	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
R7555:Per1	UTSW	11	69106513	missense	probably damaging	1.00
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
X0023:Per1	UTSW	11	69103124	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGGGGTTAATAGCTCAGC -3'
(R):5'- ATGAGAACTCCGCTGAGATGC -3'

Sequencing Primer
(F):5'- GCTTTTGCTAAACATTCCTTTTTGG -3'
(R):5'- TGAGATGCGCCCCTGGAC -3'

Posted On

2022-10-06