Incidental Mutation 'R8234:Cry2'
| ID |
637249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cry2
|
| Ensembl Gene |
ENSMUSG00000068742 |
| Gene Name |
cryptochrome circadian regulator 2 |
| Synonyms |
D130054K12Rik |
| MMRRC Submission |
067666-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.540)
|
| Stock # |
R8234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
92233991-92264388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92242974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 542
(S542G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090559]
[ENSMUST00000111278]
|
| AlphaFold |
Q9R194 |
| PDB Structure |
A vertebrate cryptochrome [X-RAY DIFFRACTION]
a vertebrate cryptochrome with FAD [X-RAY DIFFRACTION]
A ubiquitin ligase-substrate complex [X-RAY DIFFRACTION]
Mammalian cryptochrome in complex with a small molecule competitor of its ubiquitin ligase [X-RAY DIFFRACTION]
Crystal Structure of Mammalian Period-Cryptochrome Complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090559
AA Change: S542G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088047
Gene: ENSMUSG00000068742
AA Change: S542G
| 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: S542G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106909
Gene: ENSMUSG00000068742
AA Change: S542G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
T |
A |
14: 54,499,133 (GRCm39) |
M38K |
probably benign |
Het |
| Ackr1 |
T |
A |
1: 173,159,582 (GRCm39) |
R312S |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,094,845 (GRCm39) |
V2213A |
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,390,835 (GRCm39) |
R439W |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,864,920 (GRCm39) |
|
probably null |
Het |
| Casd1 |
A |
G |
6: 4,601,209 (GRCm39) |
N14S |
probably damaging |
Het |
| Cyb5rl |
A |
G |
4: 106,925,935 (GRCm39) |
Y39C |
probably damaging |
Het |
| Dmpk |
A |
T |
7: 18,822,048 (GRCm39) |
K335N |
probably benign |
Het |
| Dnai1 |
A |
G |
4: 41,625,221 (GRCm39) |
D395G |
probably benign |
Het |
| Dock4 |
C |
T |
12: 40,884,837 (GRCm39) |
|
probably null |
Het |
| Eif1ad5 |
A |
T |
12: 87,940,508 (GRCm39) |
I71L |
noncoding transcript |
Het |
| Fmo4 |
T |
C |
1: 162,632,757 (GRCm39) |
D198G |
probably damaging |
Het |
| Foxc2 |
G |
A |
8: 121,844,777 (GRCm39) |
R475Q |
probably damaging |
Het |
| Gipr |
C |
A |
7: 18,898,533 (GRCm39) |
G37V |
unknown |
Het |
| Gpat3 |
T |
C |
5: 101,005,076 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
A |
G |
9: 58,751,433 (GRCm39) |
D353G |
unknown |
Het |
| Hectd4 |
T |
A |
5: 121,477,607 (GRCm39) |
N2843K |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,469,761 (GRCm39) |
V4973M |
possibly damaging |
Het |
| Il20rb |
C |
T |
9: 100,341,263 (GRCm39) |
S281N |
probably benign |
Het |
| Kcnh4 |
A |
T |
11: 100,643,093 (GRCm39) |
N391K |
possibly damaging |
Het |
| Kitl |
A |
G |
10: 99,887,708 (GRCm39) |
T6A |
probably damaging |
Het |
| Krt36 |
A |
G |
11: 99,995,027 (GRCm39) |
Y182H |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 41,202,668 (GRCm39) |
I1262L |
|
Het |
| Mtf1 |
A |
G |
4: 124,738,039 (GRCm39) |
E644G |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,706 (GRCm39) |
Y159C |
probably damaging |
Het |
| Nags |
C |
T |
11: 102,039,824 (GRCm39) |
S504F |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,456,523 (GRCm39) |
F475L |
probably damaging |
Het |
| Nipal2 |
G |
T |
15: 34,600,178 (GRCm39) |
T213N |
possibly damaging |
Het |
| Or52m1 |
T |
A |
7: 102,289,678 (GRCm39) |
L75Q |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,313 (GRCm39) |
S188P |
probably damaging |
Het |
| Pkm |
T |
C |
9: 59,577,882 (GRCm39) |
V233A |
possibly damaging |
Het |
| Pros1 |
T |
A |
16: 62,748,540 (GRCm39) |
I671N |
possibly damaging |
Het |
| Rasd1 |
T |
C |
11: 59,855,118 (GRCm39) |
I121V |
probably damaging |
Het |
| Relch |
T |
C |
1: 105,681,235 (GRCm39) |
S1180P |
possibly damaging |
Het |
| Samhd1 |
A |
G |
2: 156,958,270 (GRCm39) |
|
probably null |
Het |
| Serpinb9f |
A |
T |
13: 33,509,898 (GRCm39) |
Y30F |
probably benign |
Het |
| Slc5a10 |
T |
C |
11: 61,564,107 (GRCm39) |
I543V |
probably benign |
Het |
| Stat5a |
A |
G |
11: 100,770,129 (GRCm39) |
I469V |
possibly damaging |
Het |
| Sugct |
T |
C |
13: 17,032,459 (GRCm39) |
E431G |
probably benign |
Het |
| Tecr |
C |
A |
8: 84,299,880 (GRCm39) |
R133L |
possibly damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,002 (GRCm39) |
N106S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,594,285 (GRCm39) |
S49G |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,692,640 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,553,324 (GRCm39) |
D31055G |
probably damaging |
Het |
| Vcp |
A |
T |
4: 42,985,242 (GRCm39) |
I369N |
probably damaging |
Het |
| Vmn2r110 |
A |
C |
17: 20,804,691 (GRCm39) |
N76K |
probably benign |
Het |
| Vmn2r12 |
T |
C |
5: 109,234,074 (GRCm39) |
T713A |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,601,235 (GRCm39) |
K844N |
probably benign |
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 |
|
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 |
|
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'- AAGCCACTCAGTGCTACCTC -3'
(R):5'- TGTAAAAGATGCTGCAGGCTG -3'
Sequencing Primer
(F):5'- GCTACCTCCCTCCAAAATCCTTAATG -3'
(R):5'- CCAGATTGGGCTGCCAAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation