Incidental Mutation 'IGL03122:Cry2'
| ID |
410003 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92233991-92264388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 92243640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 439
(R439C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090559]
[ENSMUST00000111278]
|
| AlphaFold |
Q9R194 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090559
AA Change: R439C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088047
Gene: ENSMUSG00000068742
AA Change: R439C
| 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 damaging
Transcript: ENSMUST00000111278
AA Change: R439C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106909
Gene: ENSMUSG00000068742
AA Change: R439C
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
G |
A |
16: 56,590,725 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,866,902 (GRCm39) |
D719G |
probably benign |
Het |
| Amph |
C |
T |
13: 19,287,113 (GRCm39) |
T274M |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,414 (GRCm39) |
D396E |
possibly damaging |
Het |
| Atpaf1 |
T |
C |
4: 115,648,475 (GRCm39) |
I164T |
probably damaging |
Het |
| Avpr1b |
C |
A |
1: 131,528,257 (GRCm39) |
P260Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,189,305 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,741,963 (GRCm39) |
I449V |
probably damaging |
Het |
| Ccdc24 |
A |
G |
4: 117,728,942 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,798,243 (GRCm39) |
Q84R |
possibly damaging |
Het |
| Cenpk |
C |
A |
13: 104,378,885 (GRCm39) |
Q134K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,438,007 (GRCm39) |
N373D |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,751 (GRCm39) |
S1042T |
unknown |
Het |
| Dip2a |
G |
T |
10: 76,110,880 (GRCm39) |
D1138E |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,089,018 (GRCm39) |
S205P |
possibly damaging |
Het |
| Echdc2 |
T |
A |
4: 108,022,777 (GRCm39) |
S18T |
probably benign |
Het |
| Efcab2 |
T |
A |
1: 178,265,042 (GRCm39) |
V36E |
probably damaging |
Het |
| Galk1 |
A |
T |
11: 115,901,065 (GRCm39) |
|
probably null |
Het |
| Hoxc11 |
A |
T |
15: 102,863,390 (GRCm39) |
N144Y |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,305,884 (GRCm39) |
C824S |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,570,663 (GRCm39) |
S401G |
probably benign |
Het |
| Kcnn1 |
T |
G |
8: 71,307,724 (GRCm39) |
D106A |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,943,959 (GRCm39) |
N754S |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,478,439 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,659 (GRCm39) |
C395G |
probably benign |
Het |
| Or2n1d |
T |
C |
17: 38,646,192 (GRCm39) |
V48A |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,461 (GRCm39) |
M71K |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,801 (GRCm39) |
M211V |
probably benign |
Het |
| Or9q1 |
A |
G |
19: 13,805,014 (GRCm39) |
S249P |
possibly damaging |
Het |
| Scel |
A |
G |
14: 103,836,842 (GRCm39) |
R477G |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,732,894 (GRCm39) |
S984P |
probably damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,782,040 (GRCm38) |
|
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,872 (GRCm39) |
S65P |
probably damaging |
Het |
| Tnip2 |
T |
C |
5: 34,661,095 (GRCm39) |
E119G |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,381,782 (GRCm39) |
L310M |
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 |
|
|
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 |
|
R4032:Cry2
|
UTSW |
2 |
92,244,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation