Incidental Mutation 'R0029:Per2'
| ID |
44548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Per2
|
| Ensembl Gene |
ENSMUSG00000055866 |
| Gene Name |
period circadian clock 2 |
| Synonyms |
mPer2 |
| MMRRC Submission |
038323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R0029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91343704-91387046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91351434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1024
(R1024L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069620]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069620
AA Change: R1024L
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000066620
Gene: ENSMUSG00000055866
AA Change: R1024L
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
179 |
246 |
3.23e1 |
SMART |
|
PAS
|
319 |
385 |
5.75e-2 |
SMART |
|
PAC
|
393 |
436 |
1.6e0 |
SMART |
|
low complexity region
|
475 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
996 |
1014 |
N/A |
INTRINSIC |
|
Pfam:Period_C
|
1040 |
1234 |
2.7e-93 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
94% (48/51) |
| 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 and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mutants have a partially functional circadian clock, exhibiting a short circadian period followed by loss of circadian rhythmicity in constant darkness. Mutants are also deficient in DNA damage responses and show increased sensitivity togamma radiation and tumor development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,945,225 (GRCm39) |
F434L |
probably benign |
Het |
| Abt1 |
A |
T |
13: 23,606,678 (GRCm39) |
F141Y |
possibly damaging |
Het |
| Anapc15-ps |
A |
G |
10: 95,508,857 (GRCm39) |
I141T |
probably damaging |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
| Ccn4 |
C |
T |
15: 66,784,713 (GRCm39) |
R129C |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,261,431 (GRCm39) |
|
probably benign |
Het |
| Cpa4 |
A |
G |
6: 30,585,044 (GRCm39) |
Y276C |
probably damaging |
Het |
| Cpt1a |
A |
G |
19: 3,431,674 (GRCm39) |
D698G |
probably benign |
Het |
| Crebbp |
T |
C |
16: 3,935,307 (GRCm39) |
T861A |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,469,397 (GRCm39) |
D753V |
probably damaging |
Het |
| Exosc7 |
A |
T |
9: 122,948,302 (GRCm39) |
|
probably benign |
Het |
| Fbxw28 |
T |
A |
9: 109,157,357 (GRCm39) |
D244V |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 92,044,539 (GRCm39) |
D1260G |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,568,153 (GRCm39) |
I1404F |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,534,163 (GRCm39) |
S88G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
| Il23r |
A |
C |
6: 67,455,929 (GRCm39) |
|
probably null |
Het |
| Impg1 |
T |
C |
9: 80,305,653 (GRCm39) |
D138G |
probably damaging |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Kirrel2 |
A |
G |
7: 30,152,590 (GRCm39) |
|
probably benign |
Het |
| Lipm |
T |
C |
19: 34,093,948 (GRCm39) |
|
probably benign |
Het |
| Lrpap1 |
T |
C |
5: 35,255,021 (GRCm39) |
N205S |
possibly damaging |
Het |
| Mboat4 |
T |
G |
8: 34,587,363 (GRCm39) |
F87V |
probably damaging |
Het |
| Nadsyn1 |
G |
C |
7: 143,359,815 (GRCm39) |
Q386E |
probably benign |
Het |
| Nell1 |
G |
A |
7: 49,770,463 (GRCm39) |
|
probably benign |
Het |
| Or5ac25 |
T |
C |
16: 59,181,904 (GRCm39) |
R226G |
probably benign |
Het |
| Or8g35 |
T |
A |
9: 39,381,956 (GRCm39) |
E22V |
probably benign |
Het |
| Pard3 |
G |
T |
8: 128,153,239 (GRCm39) |
|
probably benign |
Het |
| Phf11c |
T |
C |
14: 59,622,364 (GRCm39) |
D216G |
probably benign |
Het |
| Polk |
G |
A |
13: 96,653,178 (GRCm39) |
T74I |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
| Psmb7 |
T |
A |
2: 38,523,919 (GRCm39) |
H152L |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,031,031 (GRCm39) |
D498E |
probably benign |
Het |
| Slc26a2 |
G |
A |
18: 61,335,382 (GRCm39) |
P24S |
possibly damaging |
Het |
| Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
| Spmip11 |
T |
C |
15: 98,483,190 (GRCm39) |
|
probably null |
Het |
| Stk38 |
T |
C |
17: 29,201,112 (GRCm39) |
E188G |
probably benign |
Het |
| Sulf2 |
T |
C |
2: 165,958,893 (GRCm39) |
N105S |
possibly damaging |
Het |
| Sult2a3 |
T |
A |
7: 13,806,999 (GRCm39) |
M228L |
probably benign |
Het |
| Svil |
C |
A |
18: 5,063,286 (GRCm39) |
D852E |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,607,093 (GRCm39) |
L287* |
probably null |
Het |
| Tmem132e |
A |
T |
11: 82,335,587 (GRCm39) |
I890F |
probably damaging |
Het |
| Tmem63a |
A |
G |
1: 180,790,031 (GRCm39) |
Y401C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,850 (GRCm39) |
E20021G |
probably damaging |
Het |
| Ubac1 |
G |
T |
2: 25,911,455 (GRCm39) |
T31N |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,580 (GRCm39) |
L141P |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,740,588 (GRCm39) |
Y73C |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,365 (GRCm39) |
I739V |
probably benign |
Het |
|
| Other mutations in Per2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Per2
|
APN |
1 |
91,376,555 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01350:Per2
|
APN |
1 |
91,358,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01865:Per2
|
APN |
1 |
91,349,239 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01974:Per2
|
APN |
1 |
91,351,440 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02118:Per2
|
APN |
1 |
91,352,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02271:Per2
|
APN |
1 |
91,373,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02533:Per2
|
APN |
1 |
91,358,724 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02707:Per2
|
APN |
1 |
91,378,450 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02972:Per2
|
APN |
1 |
91,351,703 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03118:Per2
|
APN |
1 |
91,372,341 (GRCm39) |
nonsense |
probably null |
|
|
IGL03125:Per2
|
APN |
1 |
91,378,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03375:Per2
|
APN |
1 |
91,351,950 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03388:Per2
|
APN |
1 |
91,372,511 (GRCm39) |
splice site |
probably benign |
|
|
Kortiku
|
UTSW |
1 |
91,351,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
obst
|
UTSW |
1 |
91,373,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7092_Per2_246
|
UTSW |
1 |
91,349,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rhythm
|
UTSW |
1 |
91,357,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
ANU23:Per2
|
UTSW |
1 |
91,376,555 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0029:Per2
|
UTSW |
1 |
91,351,434 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0542:Per2
|
UTSW |
1 |
91,366,054 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0764:Per2
|
UTSW |
1 |
91,357,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Per2
|
UTSW |
1 |
91,373,279 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1655:Per2
|
UTSW |
1 |
91,376,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Per2
|
UTSW |
1 |
91,351,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Per2
|
UTSW |
1 |
91,368,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2891:Per2
|
UTSW |
1 |
91,373,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Per2
|
UTSW |
1 |
91,373,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2894:Per2
|
UTSW |
1 |
91,373,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3109:Per2
|
UTSW |
1 |
91,373,297 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4125:Per2
|
UTSW |
1 |
91,357,172 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4997:Per2
|
UTSW |
1 |
91,378,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5110:Per2
|
UTSW |
1 |
91,357,237 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5478:Per2
|
UTSW |
1 |
91,360,590 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5590:Per2
|
UTSW |
1 |
91,355,578 (GRCm39) |
nonsense |
probably null |
|
|
R5634:Per2
|
UTSW |
1 |
91,372,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5654:Per2
|
UTSW |
1 |
91,373,223 (GRCm39) |
splice site |
probably null |
|
|
R5928:Per2
|
UTSW |
1 |
91,372,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6241:Per2
|
UTSW |
1 |
91,349,251 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6295:Per2
|
UTSW |
1 |
91,377,594 (GRCm39) |
missense |
unknown |
|
|
R6345:Per2
|
UTSW |
1 |
91,376,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6480:Per2
|
UTSW |
1 |
91,357,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6502:Per2
|
UTSW |
1 |
91,355,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6702:Per2
|
UTSW |
1 |
91,355,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Per2
|
UTSW |
1 |
91,355,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6790:Per2
|
UTSW |
1 |
91,373,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7043:Per2
|
UTSW |
1 |
91,347,130 (GRCm39) |
missense |
probably benign |
|
|
R7092:Per2
|
UTSW |
1 |
91,349,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Per2
|
UTSW |
1 |
91,351,705 (GRCm39) |
nonsense |
probably null |
|
|
R7555:Per2
|
UTSW |
1 |
91,362,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Per2
|
UTSW |
1 |
91,372,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8046:Per2
|
UTSW |
1 |
91,363,425 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8142:Per2
|
UTSW |
1 |
91,349,269 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8261:Per2
|
UTSW |
1 |
91,361,170 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8277:Per2
|
UTSW |
1 |
91,348,274 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8534:Per2
|
UTSW |
1 |
91,351,659 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8685:Per2
|
UTSW |
1 |
91,378,402 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8703:Per2
|
UTSW |
1 |
91,351,767 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9100:Per2
|
UTSW |
1 |
91,351,464 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9228:Per2
|
UTSW |
1 |
91,366,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9257:Per2
|
UTSW |
1 |
91,376,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9429:Per2
|
UTSW |
1 |
91,351,489 (GRCm39) |
missense |
probably benign |
|
|
X0011:Per2
|
UTSW |
1 |
91,348,311 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Per2
|
UTSW |
1 |
91,349,215 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGGCTCCTAAATGCTCCCAAAG -3'
(R):5'- AAATAACTCCTGCCTCCCAGGCTG -3'
Sequencing Primer
(F):5'- CAAAGGCACACATTATTCTTGGTCC -3'
(R):5'- AGGCTGAGTTCCCTAGTCG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation