Incidental Mutation 'R5717:Cry1'
| ID |
451225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cry1
|
| Ensembl Gene |
ENSMUSG00000020038 |
| Gene Name |
cryptochrome circadian regulator 1 |
| Synonyms |
Phll1 |
| MMRRC Submission |
043337-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5717 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
84967564-85020918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84982280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 355
(H355Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020227]
|
| AlphaFold |
P97784 |
| PDB Structure |
Crystal Structure of Mouse Cryptochrome1 in Complex with Period2 [X-RAY DIFFRACTION]
Crystal structure of mouse Cryptochrome 1 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020227
AA Change: H355Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020227
Gene: ENSMUSG00000020038
AA Change: H355Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_photolyase
|
5 |
168 |
1.4e-47 |
PFAM |
|
Pfam:FAD_binding_7
|
213 |
486 |
6.9e-91 |
PFAM |
|
internal_repeat_1
|
502 |
523 |
3.57e-8 |
PROSPERO |
|
internal_repeat_1
|
521 |
543 |
3.57e-8 |
PROSPERO |
|
low complexity region
|
544 |
555 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214248
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214805
|
| Meta Mutation Damage Score |
0.8477 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (48/49) |
| 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. Loss of this gene results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a one-hour shorter 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
A |
T |
19: 42,041,484 (GRCm39) |
H205L |
probably benign |
Het |
| Acss2 |
T |
C |
2: 155,403,073 (GRCm39) |
L617S |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,197,971 (GRCm39) |
V77A |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,171,479 (GRCm39) |
S977P |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,619,377 (GRCm39) |
K1492E |
possibly damaging |
Het |
| B4galt5 |
G |
A |
2: 167,148,549 (GRCm39) |
R190C |
probably damaging |
Het |
| Bbs1 |
A |
G |
19: 4,947,354 (GRCm39) |
V355A |
possibly damaging |
Het |
| Cenpj |
GTTTT |
GTTTTT |
14: 56,790,978 (GRCm39) |
|
probably null |
Het |
| Ckap2 |
T |
C |
8: 22,665,063 (GRCm39) |
E467G |
probably damaging |
Het |
| Cspg4 |
G |
T |
9: 56,793,082 (GRCm39) |
M272I |
probably benign |
Het |
| Dicer1 |
T |
A |
12: 104,671,387 (GRCm39) |
Y961F |
probably damaging |
Het |
| Epha2 |
A |
T |
4: 141,049,382 (GRCm39) |
M689L |
probably benign |
Het |
| Foxc1 |
C |
T |
13: 31,991,471 (GRCm39) |
A94V |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,929,596 (GRCm39) |
V4000A |
possibly damaging |
Het |
| Frmd8 |
G |
T |
19: 5,923,396 (GRCm39) |
|
probably benign |
Het |
| Gm5218 |
A |
G |
15: 81,383,478 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7735 |
T |
C |
16: 88,966,430 (GRCm39) |
L18P |
unknown |
Het |
| Hr |
C |
T |
14: 70,803,616 (GRCm39) |
T808I |
probably benign |
Het |
| Hyal6 |
T |
C |
6: 24,743,690 (GRCm39) |
M462T |
probably benign |
Het |
| Igkv6-20 |
T |
A |
6: 70,313,412 (GRCm39) |
|
probably benign |
Het |
| Igkv8-27 |
T |
A |
6: 70,148,918 (GRCm39) |
T59S |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,659,531 (GRCm39) |
T428A |
probably benign |
Het |
| Klk1b16 |
A |
G |
7: 43,788,913 (GRCm39) |
I49V |
probably benign |
Het |
| Matn2 |
G |
T |
15: 34,399,237 (GRCm39) |
E375* |
probably null |
Het |
| Msgn1 |
T |
C |
12: 11,258,519 (GRCm39) |
Y144C |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,099,782 (GRCm39) |
N564S |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,963,555 (GRCm39) |
V972A |
probably damaging |
Het |
| Or4c29 |
T |
C |
2: 88,740,366 (GRCm39) |
I124V |
possibly damaging |
Het |
| Or5an11 |
A |
G |
19: 12,246,520 (GRCm39) |
K309E |
probably benign |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Ppp2r5d |
A |
G |
17: 46,998,820 (GRCm39) |
S81P |
probably damaging |
Het |
| Ptgis |
C |
T |
2: 167,050,284 (GRCm39) |
|
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,018 (GRCm39) |
N25S |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,944,623 (GRCm39) |
T456I |
probably damaging |
Het |
| Rpl6l |
T |
C |
10: 110,961,884 (GRCm39) |
|
noncoding transcript |
Het |
| Rps25 |
A |
G |
9: 44,320,047 (GRCm39) |
Y23C |
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,598,037 (GRCm39) |
V879A |
probably benign |
Het |
| Sema6a |
G |
A |
18: 47,382,330 (GRCm39) |
A739V |
probably benign |
Het |
| Senp6 |
A |
T |
9: 79,999,594 (GRCm39) |
I4F |
probably damaging |
Het |
| Slc49a4 |
A |
G |
16: 35,539,799 (GRCm39) |
F341L |
probably benign |
Het |
| Stoml3 |
A |
T |
3: 53,412,937 (GRCm39) |
Q197L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,578,091 (GRCm39) |
K24267N |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,905 (GRCm39) |
S194G |
probably damaging |
Het |
| Vmn2r17 |
C |
T |
5: 109,575,140 (GRCm39) |
T149I |
possibly damaging |
Het |
| Wdr72 |
T |
A |
9: 74,055,487 (GRCm39) |
Y239N |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,413,187 (GRCm39) |
|
probably null |
Het |
| Zfp759 |
T |
A |
13: 67,286,772 (GRCm39) |
C114S |
probably damaging |
Het |
|
| Other mutations in Cry1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Cry1
|
APN |
10 |
84,982,698 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL00737:Cry1
|
APN |
10 |
84,978,904 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01349:Cry1
|
APN |
10 |
84,984,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01544:Cry1
|
APN |
10 |
84,982,360 (GRCm39) |
nonsense |
probably null |
|
|
IGL01545:Cry1
|
APN |
10 |
85,020,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01767:Cry1
|
APN |
10 |
84,982,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03392:Cry1
|
APN |
10 |
84,992,993 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0119:Cry1
|
UTSW |
10 |
84,969,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0605:Cry1
|
UTSW |
10 |
85,020,223 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1618:Cry1
|
UTSW |
10 |
84,982,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Cry1
|
UTSW |
10 |
84,980,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2209:Cry1
|
UTSW |
10 |
84,982,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2221:Cry1
|
UTSW |
10 |
84,979,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2223:Cry1
|
UTSW |
10 |
84,979,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Cry1
|
UTSW |
10 |
84,969,175 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3851:Cry1
|
UTSW |
10 |
84,982,363 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3872:Cry1
|
UTSW |
10 |
84,969,024 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3981:Cry1
|
UTSW |
10 |
84,982,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4856:Cry1
|
UTSW |
10 |
84,984,634 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5162:Cry1
|
UTSW |
10 |
84,969,150 (GRCm39) |
missense |
probably benign |
|
|
R5404:Cry1
|
UTSW |
10 |
85,020,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5449:Cry1
|
UTSW |
10 |
84,968,999 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5484:Cry1
|
UTSW |
10 |
84,982,588 (GRCm39) |
splice site |
probably null |
|
|
R5599:Cry1
|
UTSW |
10 |
84,980,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7031:Cry1
|
UTSW |
10 |
84,984,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7371:Cry1
|
UTSW |
10 |
84,983,783 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7943:Cry1
|
UTSW |
10 |
84,978,984 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8022:Cry1
|
UTSW |
10 |
84,982,266 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8290:Cry1
|
UTSW |
10 |
84,978,977 (GRCm39) |
nonsense |
probably null |
|
|
R8805:Cry1
|
UTSW |
10 |
84,992,969 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Cry1
|
UTSW |
10 |
84,980,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATGTGAAGCTTCCCCTACC -3'
(R):5'- TTTATGGGCAACTCCTGTGG -3'
Sequencing Primer
(F):5'- TACCCAGCTTCCCAGGC -3'
(R):5'- GATCCCTTGGGACAAGAA -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation