Incidental Mutation 'R6498:Per3'
| ID |
523098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Per3
|
| Ensembl Gene |
ENSMUSG00000028957 |
| Gene Name |
period circadian clock 3 |
| Synonyms |
2810049O06Rik, mPer3 |
| MMRRC Submission |
044630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R6498 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
151088109-151129122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151113662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 299
(I299V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103204]
[ENSMUST00000136398]
[ENSMUST00000169423]
|
| AlphaFold |
O70361 |
| 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: ENSMUST00000103204
AA Change: I299V
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957
AA Change: I299V
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
115 |
187 |
2.86e1 |
SMART |
|
PAS
|
258 |
324 |
1.31e-5 |
SMART |
|
PAC
|
333 |
376 |
1.52e-1 |
SMART |
|
low complexity region
|
414 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
814 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
860 |
N/A |
INTRINSIC |
|
Pfam:Period_C
|
905 |
1111 |
4.4e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128283
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136398
AA Change: I299V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000118950
Gene: ENSMUSG00000028957
AA Change: I299V
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
115 |
187 |
2.86e1 |
SMART |
|
PAS
|
258 |
324 |
1.31e-5 |
SMART |
|
PAC
|
333 |
376 |
3.25e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138584
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169423
|
| SMART Domains |
Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
| Domain | Start | End | E-Value | Type |
|---|
|
CG-1
|
67 |
183 |
1.39e-91 |
SMART |
|
low complexity region
|
550 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
Pfam:TIG
|
874 |
954 |
3.1e-11 |
PFAM |
|
low complexity region
|
997 |
1030 |
N/A |
INTRINSIC |
|
ANK
|
1066 |
1095 |
1.7e2 |
SMART |
|
ANK
|
1111 |
1141 |
4.73e2 |
SMART |
|
low complexity region
|
1301 |
1319 |
N/A |
INTRINSIC |
|
IQ
|
1548 |
1564 |
2.38e2 |
SMART |
|
IQ
|
1578 |
1600 |
5.42e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.8%
|
| Validation Efficiency |
100% (37/37) |
| 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 have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit a shorter circadian cycle length. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,182,928 (GRCm39) |
N1043T |
possibly damaging |
Het |
| Actn2 |
C |
T |
13: 12,291,359 (GRCm39) |
E682K |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,624,854 (GRCm39) |
V833A |
possibly damaging |
Het |
| Arrb2 |
G |
T |
11: 70,330,375 (GRCm39) |
R333L |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,820,230 (GRCm39) |
S135N |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,331,357 (GRCm39) |
S135R |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,124,132 (GRCm39) |
R1607* |
probably null |
Het |
| Duox1 |
A |
T |
2: 122,150,088 (GRCm39) |
S160C |
probably damaging |
Het |
| Eogt |
A |
T |
6: 97,112,174 (GRCm39) |
Y160N |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,657,795 (GRCm39) |
V647A |
probably benign |
Het |
| Fbxo44 |
C |
T |
4: 148,238,882 (GRCm39) |
|
|
Het |
| Fen1 |
G |
T |
19: 10,177,479 (GRCm39) |
R322S |
probably damaging |
Het |
| Gls |
A |
C |
1: 52,259,198 (GRCm39) |
N134K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,235,112 (GRCm39) |
V82A |
possibly damaging |
Het |
| Il33 |
G |
A |
19: 29,927,137 (GRCm39) |
E23K |
probably benign |
Het |
| Macroh2a2 |
C |
A |
10: 61,593,614 (GRCm39) |
V21F |
probably damaging |
Het |
| Map2k5 |
C |
A |
9: 63,193,683 (GRCm39) |
A266S |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,226 (GRCm39) |
I32V |
probably benign |
Het |
| Or2t29 |
T |
A |
11: 58,433,408 (GRCm39) |
N298I |
probably damaging |
Het |
| Or5p61 |
C |
T |
7: 107,758,639 (GRCm39) |
C147Y |
probably benign |
Het |
| Pcdh1 |
G |
A |
18: 38,330,490 (GRCm39) |
P838S |
probably benign |
Het |
| Pcdha5 |
A |
G |
18: 37,095,768 (GRCm39) |
E759G |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,505 (GRCm39) |
I1214T |
unknown |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,873,881 (GRCm39) |
|
probably null |
Het |
| Sys1 |
G |
A |
2: 164,306,438 (GRCm39) |
A131T |
probably benign |
Het |
| Tekt2 |
A |
G |
4: 126,218,098 (GRCm39) |
L138P |
probably benign |
Het |
| Tmprss12 |
T |
A |
15: 100,183,133 (GRCm39) |
N158K |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,717,923 (GRCm39) |
M2177K |
unknown |
Het |
| Trim43a |
T |
A |
9: 88,464,395 (GRCm39) |
I102N |
probably damaging |
Het |
| Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,317,837 (GRCm39) |
C498Y |
probably benign |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,841 (GRCm39) |
V159D |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,562 (GRCm39) |
T103A |
probably benign |
Het |
| Wsb1 |
A |
T |
11: 79,139,315 (GRCm39) |
V127D |
probably damaging |
Het |
| Zfp268 |
T |
A |
4: 145,349,459 (GRCm39) |
C299S |
probably damaging |
Het |
|
| Other mutations in Per3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00925:Per3
|
APN |
4 |
151,098,055 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02112:Per3
|
APN |
4 |
151,113,640 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02428:Per3
|
APN |
4 |
151,102,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02812:Per3
|
APN |
4 |
151,108,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03094:Per3
|
APN |
4 |
151,093,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Per3
|
UTSW |
4 |
151,109,005 (GRCm39) |
intron |
probably benign |
|
|
R0565:Per3
|
UTSW |
4 |
151,118,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Per3
|
UTSW |
4 |
151,113,288 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1186:Per3
|
UTSW |
4 |
151,110,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1736:Per3
|
UTSW |
4 |
151,093,705 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1757:Per3
|
UTSW |
4 |
151,127,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1900:Per3
|
UTSW |
4 |
151,125,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Per3
|
UTSW |
4 |
151,103,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Per3
|
UTSW |
4 |
151,118,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2272:Per3
|
UTSW |
4 |
151,103,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2415:Per3
|
UTSW |
4 |
151,097,147 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4771:Per3
|
UTSW |
4 |
151,093,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Per3
|
UTSW |
4 |
151,097,352 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5298:Per3
|
UTSW |
4 |
151,113,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Per3
|
UTSW |
4 |
151,125,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Per3
|
UTSW |
4 |
151,125,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Per3
|
UTSW |
4 |
151,096,907 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5974:Per3
|
UTSW |
4 |
151,127,194 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6907:Per3
|
UTSW |
4 |
151,128,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6915:Per3
|
UTSW |
4 |
151,128,106 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7269:Per3
|
UTSW |
4 |
151,116,393 (GRCm39) |
nonsense |
probably null |
|
|
R7454:Per3
|
UTSW |
4 |
151,097,185 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7555:Per3
|
UTSW |
4 |
151,102,515 (GRCm39) |
nonsense |
probably null |
|
|
R7771:Per3
|
UTSW |
4 |
151,125,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Per3
|
UTSW |
4 |
151,110,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Per3
|
UTSW |
4 |
151,113,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Per3
|
UTSW |
4 |
151,127,135 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8099:Per3
|
UTSW |
4 |
151,097,014 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9153:Per3
|
UTSW |
4 |
151,111,796 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9449:Per3
|
UTSW |
4 |
151,094,945 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9566:Per3
|
UTSW |
4 |
151,113,335 (GRCm39) |
missense |
|
|
|
R9585:Per3
|
UTSW |
4 |
151,097,138 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATTTCATATTTGGGTAAAGGC -3'
(R):5'- CTCATCGAGAGGAAAGGGTTTG -3'
Sequencing Primer
(F):5'- TTGGGTAAAGGCTAAACTCTAAGC -3'
(R):5'- CAGGAGACAGAATCCTTACGTATGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation