Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Per1'

569786

Institutional Source

Beutler Lab

Gene Symbol

Per1

Ensembl Gene

ENSMUSG00000020893

Gene Name

period circadian clock 1

Synonyms

mPer1, m-rigui, Hftm

MMRRC Submission

045430-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68986043-69000786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68994008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 438 (D438G)

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: D438G

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

SMART Domains

Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893
AA Change: D438G

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: D438G

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

SMART Domains

Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893
AA Change: D438G

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: D418G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893
AA Change: D418G

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: D438G

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

SMART Domains

Protein: ENSMUSP00000121713
Gene: ENSMUSG00000020893
AA Change: D438G

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: D438G

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

SMART Domains

Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893
AA Change: D438G

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

0.8067

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam30	A	T	3: 98,069,637 (GRCm39)	N490I	probably benign	Het
Ankrd55	A	T	13: 112,492,497 (GRCm39)	I223F	probably damaging	Het
Ano8	T	A	8: 71,935,655 (GRCm39)	E321V	probably damaging	Het
Apc2	A	G	10: 80,149,316 (GRCm39)	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,513 (GRCm39)	V38E	probably benign	Het
Atp4a	T	C	7: 30,416,155 (GRCm39)	S417P	possibly damaging	Het
AY358078	A	G	14: 52,063,716 (GRCm39)	N454S	probably damaging	Het
Cables2	A	G	2: 179,903,450 (GRCm39)	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camsap3	G	A	8: 3,637,960 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,150,518 (GRCm39)	V705E	probably benign	Het
Ccdc47	T	C	11: 106,091,799 (GRCm39)	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 124,089,283 (GRCm39)	D307G	probably damaging	Het
Cdcp3	A	G	7: 130,879,344 (GRCm39)	T1788A	unknown	Het
Cdh23	A	G	10: 60,366,775 (GRCm39)	I235T	probably benign	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap65	T	C	1: 74,960,742 (GRCm39)	N743D	probably benign	Het
Cimap1b	T	A	15: 89,262,610 (GRCm39)	T116S	probably benign	Het
Clec16a	A	G	16: 10,398,827 (GRCm39)	N329S	probably null	Het
Col25a1	A	G	3: 130,340,006 (GRCm39)		probably null	Het
Daam1	T	G	12: 72,035,713 (GRCm39)	D969E	probably benign	Het
Dntt	A	C	19: 41,047,004 (GRCm39)		probably null	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dst	T	A	1: 34,229,810 (GRCm39)	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,615,297 (GRCm39)	T262A	possibly damaging	Het
Exph5	G	A	9: 53,288,309 (GRCm39)	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,985,061 (GRCm39)	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,581,123 (GRCm39)		probably null	Het
Galnt9	T	A	5: 110,762,054 (GRCm39)	N397K	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gga1	A	G	15: 78,775,651 (GRCm39)	T369A	probably benign	Het
Gp1ba	T	C	11: 70,531,119 (GRCm39)	I295T	unknown	Het
Hk2	T	C	6: 82,705,873 (GRCm39)	E810G	probably benign	Het
Igsf10	A	G	3: 59,233,189 (GRCm39)	V1848A	probably damaging	Het
Insrr	G	A	3: 87,721,623 (GRCm39)		probably null	Het
Ip6k3	T	A	17: 27,367,504 (GRCm39)	M231L	probably benign	Het
Itgb8	T	C	12: 119,155,939 (GRCm39)	N171S	probably benign	Het
Ldlrad3	T	C	2: 101,897,184 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,634,223 (GRCm39)	C886*	probably null	Het
Mettl13	T	C	1: 162,366,547 (GRCm39)	D444G	probably benign	Het
Mns1	A	G	9: 72,356,025 (GRCm39)	Y224C	probably damaging	Het
Mri1	C	T	8: 84,983,525 (GRCm39)	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo5c	A	C	9: 75,196,423 (GRCm39)	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,281,755 (GRCm39)	Q842H	possibly damaging	Het
Oga	G	A	19: 45,755,895 (GRCm39)	Q583*	probably null	Het
Or14c44	T	C	7: 86,061,957 (GRCm39)	L129P	possibly damaging	Het
Or14j8	T	A	17: 38,263,413 (GRCm39)	R167S	probably benign	Het
Or2t1	A	T	14: 14,328,401 (GRCm38)	T97S	possibly damaging	Het
Or5d39	T	C	2: 87,979,620 (GRCm39)	T248A	possibly damaging	Het
Otoa	A	G	7: 120,729,288 (GRCm39)	T554A	probably benign	Het
Phactr3	G	A	2: 177,975,854 (GRCm39)	R533H	probably damaging	Het
Phykpl	T	C	11: 51,490,370 (GRCm39)	F417S	probably damaging	Het
Pole	A	T	5: 110,482,330 (GRCm39)	T2057S	probably benign	Het
Polq	A	G	16: 36,881,288 (GRCm39)	T1151A	probably benign	Het
Polr1g	T	C	7: 19,093,073 (GRCm39)	T36A	probably benign	Het
Rbm26	A	T	14: 105,389,976 (GRCm39)	V216E	possibly damaging	Het
Ryk	T	C	9: 102,775,737 (GRCm39)	I449T	probably damaging	Het
Sap25	A	G	5: 137,640,935 (GRCm39)	T225A	probably benign	Het
Sart3	A	G	5: 113,882,728 (GRCm39)	M864T	probably benign	Het
Sec31b	T	C	19: 44,517,161 (GRCm39)	S280G	probably benign	Het
Sema4d	A	T	13: 51,877,598 (GRCm39)	I78N	probably damaging	Het
Sgip1	G	C	4: 102,778,661 (GRCm39)	R419S	unknown	Het
Slc13a3	T	C	2: 165,272,210 (GRCm39)	I278V	probably benign	Het
Slc2a5	A	G	4: 150,224,439 (GRCm39)	D312G	probably benign	Het
Slc39a2	A	T	14: 52,131,660 (GRCm39)	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,443,782 (GRCm39)	V148E	probably benign	Het
Syngr2	A	G	11: 117,703,322 (GRCm39)	E46G	probably damaging	Het
Taok1	A	G	11: 77,470,643 (GRCm39)	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,655,185 (GRCm39)	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,566,848 (GRCm39)	I747T	probably benign	Het
Tmem151b	G	T	17: 45,856,195 (GRCm39)	P415Q	probably benign	Het
Tmf1	T	C	6: 97,145,061 (GRCm39)	D659G	possibly damaging	Het
Tnn	G	T	1: 159,973,592 (GRCm39)	D258E	probably damaging	Het
Traj33	A	G	14: 54,422,862 (GRCm39)	I16V	unknown	Het
Ttll13	G	T	7: 79,906,772 (GRCm39)	C480F	probably damaging	Het
Ttn	T	C	2: 76,714,415 (GRCm39)	N8137S	unknown	Het
Vmn1r85	T	C	7: 12,819,073 (GRCm39)	N24D	probably damaging	Het
Wdr81	T	C	11: 75,335,525 (GRCm39)	Q649R	probably null	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zc3h6	A	G	2: 128,835,110 (GRCm39)	D82G	possibly 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
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'- CCCCAGGACTCCTTAACTGTTG -3'
(R):5'- AAGACGTCCTCATTCAGGGG -3'

Sequencing Primer
(F):5'- CCAGGACTCCTTAACTGTTGTTGTG -3'
(R):5'- TCCTCATTCAGGGGTGCCC -3'

Posted On

2019-09-13