Incidental Mutation 'R6179:Cry2'
| ID |
487918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cry2
|
| Ensembl Gene |
ENSMUSG00000068742 |
| Gene Name |
cryptochrome circadian regulator 2 |
| Synonyms |
D130054K12Rik |
| MMRRC Submission |
044321-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.579)
|
| Stock # |
R6179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
92233991-92264388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92244187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 329
(G329R)
|
| 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: G329R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088047
Gene: ENSMUSG00000068742
AA Change: G329R
| 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: G329R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106909
Gene: ENSMUSG00000068742
AA Change: G329R
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930426L09Rik |
T |
C |
2: 19,003,653 (GRCm39) |
|
probably benign |
Het |
| 4930590J08Rik |
T |
C |
6: 91,919,311 (GRCm39) |
S657P |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,025,080 (GRCm39) |
I988V |
probably benign |
Het |
| Acte1 |
A |
G |
7: 143,425,524 (GRCm39) |
T58A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,270,662 (GRCm39) |
D280E |
probably benign |
Het |
| Apob |
T |
A |
12: 8,055,060 (GRCm39) |
L1353* |
probably null |
Het |
| Atp2b1 |
C |
T |
10: 98,858,691 (GRCm39) |
R222C |
probably damaging |
Het |
| AW209491 |
T |
G |
13: 14,811,668 (GRCm39) |
S174A |
possibly damaging |
Het |
| B930094E09Rik |
G |
C |
18: 31,742,911 (GRCm39) |
|
probably benign |
Het |
| Cbln3 |
G |
T |
14: 56,121,517 (GRCm39) |
P43Q |
possibly damaging |
Het |
| Ccdc181 |
A |
T |
1: 164,107,487 (GRCm39) |
T57S |
probably benign |
Het |
| Ccr2 |
A |
C |
9: 123,906,008 (GRCm39) |
N96T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,956,837 (GRCm39) |
I868V |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,094,071 (GRCm39) |
I1535T |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,660,204 (GRCm39) |
T377S |
probably benign |
Het |
| Cpeb3 |
A |
G |
19: 37,065,853 (GRCm39) |
F439L |
probably damaging |
Het |
| Crb2 |
T |
C |
2: 37,680,269 (GRCm39) |
V399A |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,781,868 (GRCm39) |
E691G |
probably benign |
Het |
| Edil3 |
A |
T |
13: 88,970,108 (GRCm39) |
H3L |
probably benign |
Het |
| Endod1 |
T |
C |
9: 14,268,757 (GRCm39) |
I243V |
probably benign |
Het |
| Fpr3 |
G |
A |
17: 18,190,919 (GRCm39) |
W63* |
probably null |
Het |
| Gtse1 |
T |
G |
15: 85,753,158 (GRCm39) |
N424K |
possibly damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,783,192 (GRCm39) |
V252M |
probably damaging |
Het |
| Kifbp |
G |
A |
10: 62,399,029 (GRCm39) |
Q130* |
probably null |
Het |
| Lmbrd2 |
T |
G |
15: 9,149,262 (GRCm39) |
I48M |
probably damaging |
Het |
| Lrrc7 |
T |
G |
3: 158,059,069 (GRCm39) |
I13L |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,822,386 (GRCm39) |
S408P |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,028,529 (GRCm39) |
V542A |
possibly damaging |
Het |
| Msto1 |
C |
A |
3: 88,818,254 (GRCm39) |
R331L |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,979 (GRCm39) |
E1425K |
probably damaging |
Het |
| Nup43 |
T |
C |
10: 7,554,437 (GRCm39) |
I340T |
probably benign |
Het |
| Or1j4 |
T |
C |
2: 36,740,846 (GRCm39) |
S263P |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,736,669 (GRCm39) |
M884K |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,140,573 (GRCm39) |
L749H |
probably damaging |
Het |
| Pigp |
T |
C |
16: 94,171,226 (GRCm39) |
R22G |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,468,824 (GRCm39) |
M200T |
probably damaging |
Het |
| Ppig |
T |
A |
2: 69,580,471 (GRCm39) |
D668E |
unknown |
Het |
| Prss3 |
G |
A |
6: 41,352,060 (GRCm39) |
R68C |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,994,721 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,006,630 (GRCm39) |
F2116L |
possibly damaging |
Het |
| Spg21 |
T |
C |
9: 65,376,090 (GRCm39) |
S33P |
possibly damaging |
Het |
| Spns3 |
A |
G |
11: 72,390,349 (GRCm39) |
S432P |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,042,452 (GRCm39) |
E27G |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,320 (GRCm39) |
Q1468R |
probably benign |
Het |
| Tbce |
T |
G |
13: 14,194,362 (GRCm39) |
E99A |
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
| Trim10 |
A |
G |
17: 37,187,923 (GRCm39) |
T380A |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,220,501 (GRCm39) |
D472E |
probably damaging |
Het |
| Vmn2r28 |
G |
A |
7: 5,491,003 (GRCm39) |
Q415* |
probably null |
Het |
| Vwf |
G |
A |
6: 125,626,252 (GRCm39) |
C7Y |
unknown |
Het |
| Yeats2 |
C |
T |
16: 20,033,225 (GRCm39) |
P1088L |
probably benign |
Het |
| Zfp40 |
C |
A |
17: 23,397,354 (GRCm39) |
V48L |
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 |
|
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 |
|
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'- ACAGGGTACAGGCTAGCTTG -3'
(R):5'- CATCGTCACAGTGCTAAGAGC -3'
Sequencing Primer
(F):5'- GTACAGGCTAGCTTGCACTCAC -3'
(R):5'- CCAGGCAGACACTCATCTCTGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation