Incidental Mutation 'R4032:Cry2'
ID |
313521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cry2
|
Ensembl Gene |
ENSMUSG00000068742 |
Gene Name |
cryptochrome circadian regulator 2 |
Synonyms |
D130054K12Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.540)
|
Stock # |
R4032 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
92233991-92264388 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92244172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 334
(I334V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090559]
[ENSMUST00000111278]
|
AlphaFold |
Q9R194 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090559
AA Change: I334V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000088047 Gene: ENSMUSG00000068742 AA Change: I334V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
Pfam:DNA_photolyase
|
23 |
187 |
2.4e-50 |
PFAM |
Pfam:FAD_binding_7
|
231 |
504 |
4.4e-89 |
PFAM |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111278
AA Change: I334V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000106909 Gene: ENSMUSG00000068742 AA Change: I334V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
Pfam:DNA_photolyase
|
23 |
189 |
3.6e-50 |
PFAM |
Pfam:FAD_binding_7
|
230 |
506 |
1.4e-105 |
PFAM |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126002
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. 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 associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. [provided by RefSeq, Feb 2014] PHENOTYPE: Homozygotes for targeted null mutations exhibit a one-hour longer circadian period under constant darkness, and reduced expression of another circadian gene in the suprachiasmatic nucleus in response to acute light exposure. [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 |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Arhgap17 |
G |
T |
7: 122,879,289 (GRCm39) |
|
probably benign |
Het |
Atp13a4 |
T |
A |
16: 29,237,389 (GRCm39) |
M846L |
probably damaging |
Het |
Capn5 |
G |
T |
7: 97,778,453 (GRCm39) |
Q389K |
probably damaging |
Het |
Cdkl3 |
T |
A |
11: 51,902,118 (GRCm39) |
I109N |
probably damaging |
Het |
Cs |
T |
C |
10: 128,196,913 (GRCm39) |
L436P |
probably damaging |
Het |
D17H6S53E |
T |
C |
17: 35,346,355 (GRCm39) |
S89P |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,584,483 (GRCm39) |
Q629* |
probably null |
Het |
H4c12 |
T |
C |
13: 21,934,588 (GRCm39) |
I30V |
possibly damaging |
Het |
Itpka |
C |
T |
2: 119,573,082 (GRCm39) |
P75S |
probably benign |
Het |
Lyst |
C |
T |
13: 13,791,250 (GRCm39) |
H38Y |
probably damaging |
Het |
Mansc4 |
T |
C |
6: 146,976,678 (GRCm39) |
K313E |
probably benign |
Het |
Megf6 |
T |
A |
4: 154,261,550 (GRCm39) |
C58* |
probably null |
Het |
Mtor |
T |
C |
4: 148,621,209 (GRCm39) |
V1869A |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,365,426 (GRCm39) |
D899G |
probably benign |
Het |
Nek10 |
C |
A |
14: 14,853,877 (GRCm38) |
|
probably null |
Het |
Nfkb1 |
T |
C |
3: 135,300,110 (GRCm39) |
S657G |
possibly damaging |
Het |
Or10d5j |
T |
C |
9: 39,867,629 (GRCm39) |
T213A |
probably benign |
Het |
Or2a25 |
A |
T |
6: 42,888,559 (GRCm39) |
Y34F |
probably benign |
Het |
Or4m1 |
T |
A |
14: 50,557,767 (GRCm39) |
D175V |
possibly damaging |
Het |
Or4n5 |
G |
T |
14: 50,132,433 (GRCm39) |
H275Q |
probably benign |
Het |
Or51f23 |
A |
G |
7: 102,453,396 (GRCm39) |
K237R |
probably benign |
Het |
Pabir1 |
C |
T |
19: 24,454,106 (GRCm39) |
M205I |
probably benign |
Het |
Pde1b |
A |
G |
15: 103,429,753 (GRCm39) |
D82G |
probably damaging |
Het |
Pdzrn4 |
C |
T |
15: 92,667,414 (GRCm39) |
T522M |
probably damaging |
Het |
Ptpro |
C |
A |
6: 137,438,740 (GRCm39) |
N373K |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,720,386 (GRCm39) |
Y1478C |
probably damaging |
Het |
Sdc2 |
A |
T |
15: 33,017,323 (GRCm39) |
I46F |
probably damaging |
Het |
Sergef |
C |
A |
7: 46,092,726 (GRCm39) |
E428* |
probably null |
Het |
Stk36 |
A |
G |
1: 74,665,207 (GRCm39) |
S651G |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,025,081 (GRCm39) |
V559A |
|
Het |
Ugt8a |
C |
A |
3: 125,667,807 (GRCm39) |
D345Y |
probably damaging |
Het |
Usp44 |
A |
G |
10: 93,683,127 (GRCm39) |
|
probably benign |
Het |
Vps13a |
A |
T |
19: 16,594,263 (GRCm39) |
L3156Q |
probably damaging |
Het |
Zfp655 |
A |
G |
5: 145,180,858 (GRCm39) |
T239A |
possibly damaging |
Het |
Zfp87 |
T |
C |
13: 74,520,449 (GRCm39) |
T210A |
possibly damaging |
Het |
|
Other mutations in Cry2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01995:Cry2
|
APN |
2 |
92,254,977 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02167:Cry2
|
APN |
2 |
92,264,166 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02183:Cry2
|
APN |
2 |
92,243,384 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02343:Cry2
|
APN |
2 |
92,257,266 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02432:Cry2
|
APN |
2 |
92,244,012 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02725:Cry2
|
APN |
2 |
92,243,605 (GRCm39) |
splice site |
probably benign |
|
IGL02932:Cry2
|
APN |
2 |
92,243,462 (GRCm39) |
nonsense |
probably null |
|
IGL03122:Cry2
|
APN |
2 |
92,243,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03366:Cry2
|
APN |
2 |
92,244,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R0679:Cry2
|
UTSW |
2 |
92,244,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R1325:Cry2
|
UTSW |
2 |
92,244,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R1862:Cry2
|
UTSW |
2 |
92,254,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Cry2
|
UTSW |
2 |
92,243,985 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2189:Cry2
|
UTSW |
2 |
92,242,037 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4689:Cry2
|
UTSW |
2 |
92,254,899 (GRCm39) |
missense |
probably benign |
0.38 |
R5130:Cry2
|
UTSW |
2 |
92,254,944 (GRCm39) |
missense |
probably benign |
0.28 |
R5145:Cry2
|
UTSW |
2 |
92,243,405 (GRCm39) |
missense |
probably benign |
|
R5970:Cry2
|
UTSW |
2 |
92,243,312 (GRCm39) |
missense |
probably benign |
0.08 |
R6179:Cry2
|
UTSW |
2 |
92,244,187 (GRCm39) |
missense |
probably damaging |
0.98 |
R7102:Cry2
|
UTSW |
2 |
92,243,438 (GRCm39) |
missense |
probably damaging |
0.99 |
R7158:Cry2
|
UTSW |
2 |
92,244,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R7213:Cry2
|
UTSW |
2 |
92,244,004 (GRCm39) |
missense |
probably benign |
0.00 |
R7257:Cry2
|
UTSW |
2 |
92,243,326 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7378:Cry2
|
UTSW |
2 |
92,244,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R7427:Cry2
|
UTSW |
2 |
92,243,392 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7428:Cry2
|
UTSW |
2 |
92,243,392 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7440:Cry2
|
UTSW |
2 |
92,243,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R7531:Cry2
|
UTSW |
2 |
92,243,350 (GRCm39) |
missense |
probably damaging |
0.98 |
R8234:Cry2
|
UTSW |
2 |
92,242,974 (GRCm39) |
missense |
probably benign |
|
R8350:Cry2
|
UTSW |
2 |
92,244,286 (GRCm39) |
missense |
probably benign |
0.00 |
R8450:Cry2
|
UTSW |
2 |
92,244,286 (GRCm39) |
missense |
probably benign |
0.00 |
R8496:Cry2
|
UTSW |
2 |
92,257,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R9172:Cry2
|
UTSW |
2 |
92,243,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R9283:Cry2
|
UTSW |
2 |
92,244,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGGTACAGGCTAGCTTG -3'
(R):5'- ATCGTCACAGTGCTAAGAGC -3'
Sequencing Primer
(F):5'- GTACAGGCTAGCTTGCACTCAC -3'
(R):5'- CCAGGCAGACACTCATCTCTGTG -3'
|
Posted On |
2015-04-30 |