Incidental Mutation 'R0679:Cry2'
| ID |
61719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cry2
|
| Ensembl Gene |
ENSMUSG00000068742 |
| Gene Name |
cryptochrome circadian regulator 2 |
| Synonyms |
D130054K12Rik |
| MMRRC Submission |
038864-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
R0679 (G1)
|
| Quality Score |
162 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
92233991-92264388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92244060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 371
(I371T)
|
| 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: I371T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088047
Gene: ENSMUSG00000068742
AA Change: I371T
| 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: I371T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106909
Gene: ENSMUSG00000068742
AA Change: I371T
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 91.4%
|
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
G |
A |
5: 81,942,824 (GRCm39) |
D1507N |
probably damaging |
Het |
| Cplane1 |
G |
T |
15: 8,252,606 (GRCm39) |
V1943L |
probably benign |
Het |
| L3mbtl3 |
T |
A |
10: 26,189,831 (GRCm39) |
K478* |
probably null |
Het |
| Or5h26 |
G |
A |
16: 58,987,979 (GRCm39) |
H176Y |
probably damaging |
Het |
| Plcg1 |
C |
T |
2: 160,598,830 (GRCm39) |
P842S |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 51,942,391 (GRCm39) |
R2111G |
possibly damaging |
Het |
| Sox10 |
A |
G |
15: 79,040,788 (GRCm39) |
S90P |
probably benign |
Het |
| Tbc1d32 |
A |
C |
10: 56,056,672 (GRCm39) |
Y423D |
probably damaging |
Het |
| Utp15 |
A |
T |
13: 98,395,911 (GRCm39) |
Y52N |
probably benign |
Het |
| Vps13b |
T |
G |
15: 35,709,849 (GRCm39) |
I1932S |
possibly damaging |
Het |
| Zfp457 |
A |
T |
13: 67,441,655 (GRCm39) |
C211S |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAATCGGCATCCAGGAGCAG -3'
(R):5'- AACCCCAGGTTTGACCGAATGGAG -3'
Sequencing Primer
(F):5'- CAGCTCGTCAAATACCTAGATGAGG -3'
(R):5'- ATGGAGGGGAACCCCATCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation