Incidental Mutation 'R2189:Cry2'
| ID |
237956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cry2
|
| Ensembl Gene |
ENSMUSG00000068742 |
| Gene Name |
cryptochrome circadian regulator 2 |
| Synonyms |
D130054K12Rik |
| MMRRC Submission |
040191-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
R2189 (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 92242037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 572
(E572G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090559]
[ENSMUST00000111278]
|
| AlphaFold |
Q9R194 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090559
AA Change: E572G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088047
Gene: ENSMUSG00000068742
AA Change: E572G
| 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 |
possibly damaging
Transcript: ENSMUST00000111278
AA Change: E572G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106909
Gene: ENSMUSG00000068742
AA Change: E572G
| 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: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
| Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
| Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
| Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
| Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
| Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
| Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
| Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
| Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
| V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
| Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
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 |
|
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'- TTACCACTGCAAAGGTTTACAGG -3'
(R):5'- AGGTCACTGCTGCAAAGGAG -3'
Sequencing Primer
(F):5'- GGGCTGCATATCAGATCTCCTG -3'
(R):5'- CTGCTGCAAAGGAGGCCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation