Incidental Mutation 'R5583:Per1'
| ID |
438580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Per1
|
| Ensembl Gene |
ENSMUSG00000020893 |
| Gene Name |
period circadian clock 1 |
| Synonyms |
mPer1, m-rigui, Hftm |
| MMRRC Submission |
043137-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
R5583 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68986043-69000786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68994271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 494
(H494R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121713
(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: H494R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000021271
Gene: ENSMUSG00000020893
AA Change: H494R
| 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 |
possibly damaging
Transcript: ENSMUST00000101004
AA Change: H494R
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893
AA Change: H494R
| 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: H474R
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099665
Gene: ENSMUSG00000020893
AA Change: H474R
| 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: H494R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121713
Gene: ENSMUSG00000020893
AA Change: H494R
| 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: H494R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000132635
Gene: ENSMUSG00000020893
AA Change: H494R
| 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 |
0.2849 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,083 (GRCm39) |
L8Q |
probably damaging |
Het |
| Abca4 |
T |
C |
3: 121,942,550 (GRCm39) |
V1681A |
probably damaging |
Het |
| Abce1 |
G |
T |
8: 80,416,922 (GRCm39) |
A363E |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,564,800 (GRCm39) |
Y256C |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,695,740 (GRCm39) |
C416R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,984,281 (GRCm39) |
V1855D |
probably damaging |
Het |
| Alb |
A |
T |
5: 90,616,452 (GRCm39) |
H319L |
probably benign |
Het |
| Ankrd35 |
G |
T |
3: 96,592,219 (GRCm39) |
R835L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,615,414 (GRCm39) |
D1014G |
possibly damaging |
Het |
| Cdk6 |
T |
A |
5: 3,394,436 (GRCm39) |
Y24N |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,752,473 (GRCm39) |
N323K |
probably damaging |
Het |
| Cops9 |
A |
T |
1: 92,567,489 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,879,506 (GRCm39) |
T561A |
probably benign |
Het |
| Dcdc5 |
T |
C |
2: 106,195,778 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7b |
G |
T |
1: 46,281,359 (GRCm39) |
A2807S |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,413,368 (GRCm39) |
T196A |
possibly damaging |
Het |
| Fam217a |
C |
A |
13: 35,094,280 (GRCm39) |
C402F |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,715 (GRCm39) |
V4053E |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,791,004 (GRCm39) |
V755A |
probably damaging |
Het |
| Fxr1 |
C |
A |
3: 34,123,125 (GRCm39) |
S641R |
probably benign |
Het |
| Gata5 |
A |
T |
2: 179,976,047 (GRCm39) |
M39K |
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,807,278 (GRCm39) |
D1658E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,400,110 (GRCm39) |
T426M |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Helq |
T |
C |
5: 100,910,459 (GRCm39) |
E1039G |
probably damaging |
Het |
| Hibch |
T |
A |
1: 52,940,406 (GRCm39) |
Y192N |
probably damaging |
Het |
| Hp1bp3 |
A |
G |
4: 137,949,426 (GRCm39) |
I41M |
probably damaging |
Het |
| Itpripl2 |
G |
T |
7: 118,089,101 (GRCm39) |
P486Q |
probably benign |
Het |
| Kcnj6 |
T |
C |
16: 94,634,060 (GRCm39) |
D17G |
probably benign |
Het |
| Kprp |
T |
A |
3: 92,731,643 (GRCm39) |
Y469F |
unknown |
Het |
| Kremen2 |
T |
C |
17: 23,961,229 (GRCm39) |
T373A |
probably benign |
Het |
| Lgi4 |
A |
G |
7: 30,760,562 (GRCm39) |
Y39C |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,409 (GRCm39) |
D176G |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,424,332 (GRCm39) |
S785G |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,598,325 (GRCm39) |
Q920L |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,455,196 (GRCm39) |
E1362G |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,272 (GRCm39) |
S8P |
probably damaging |
Het |
| Or2h1b |
T |
C |
17: 37,462,485 (GRCm39) |
Q126R |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,654,892 (GRCm39) |
R888Q |
possibly damaging |
Het |
| Pira2 |
A |
G |
7: 3,845,545 (GRCm39) |
F280L |
probably benign |
Het |
| Plekhm3 |
C |
T |
1: 64,977,145 (GRCm39) |
W108* |
probably null |
Het |
| Ptcd3 |
A |
G |
6: 71,879,920 (GRCm39) |
S113P |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,404,842 (GRCm39) |
L42P |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,739 (GRCm39) |
C710Y |
probably damaging |
Het |
| Skint1 |
A |
C |
4: 111,876,253 (GRCm39) |
Q58P |
probably damaging |
Het |
| Spata7 |
A |
T |
12: 98,635,590 (GRCm39) |
N438I |
probably damaging |
Het |
| Spdya |
C |
A |
17: 71,876,126 (GRCm39) |
D164E |
probably damaging |
Het |
| Speer3 |
G |
A |
5: 13,844,782 (GRCm39) |
|
probably null |
Het |
| Ssc4d |
A |
T |
5: 135,999,050 (GRCm39) |
L51H |
probably damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,579 (GRCm39) |
I123T |
possibly damaging |
Het |
| Styx |
T |
A |
14: 45,608,483 (GRCm39) |
F147I |
possibly damaging |
Het |
| Suv39h2 |
T |
A |
2: 3,475,890 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,373,446 (GRCm39) |
V84A |
probably benign |
Het |
| Tlcd1 |
T |
G |
11: 78,069,762 (GRCm39) |
V25G |
probably benign |
Het |
| Tmem79 |
T |
C |
3: 88,239,870 (GRCm39) |
Y280C |
probably damaging |
Het |
| Trim5 |
T |
A |
7: 103,926,042 (GRCm39) |
N173I |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,208,027 (GRCm39) |
D194E |
probably damaging |
Het |
| Zfp2 |
T |
C |
11: 50,790,984 (GRCm39) |
E353G |
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 |
|
|
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'- CATAAAGTGCGCACGTAAGG -3'
(R):5'- ATTGCTATCACTGGAGGAGC -3'
Sequencing Primer
(F):5'- ACGTAAGGGAACTGTGTCTCCAC -3'
(R):5'- CCAGGGCTGTGTAGAGGAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation