Mutagenetix > Incidental Mutations

Incidental Mutation 'R7213:Cry2'

561190

Institutional Source

Beutler Lab

Gene Symbol

Cry2

Ensembl Gene

ENSMUSG00000068742

Gene Name

cryptochrome 2 (photolyase-like)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R7213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92403646-92434043 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92413659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 390 (V390I)

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: V390I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088047
Gene: ENSMUSG00000068742
AA Change: V390I

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: V390I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106909
Gene: ENSMUSG00000068742
AA Change: V390I

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

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	T	9: 124,293,900	Y131*	probably null	Het
2310009B15Rik	A	T	1: 138,853,629	V94D	probably damaging	Het
Actr1b	T	A	1: 36,702,140	N120I	probably damaging	Het
Adam17	A	T	12: 21,336,678	Y452*	probably null	Het
Adam19	A	T	11: 46,121,471	T265S	probably benign	Het
Adgrb1	A	G	15: 74,569,884	T945A	probably benign	Het
BC067074	T	A	13: 113,317,941	F174I		Het
Bpifa5	G	A	2: 154,165,983	V182M	possibly damaging	Het
Celsr3	C	T	9: 108,849,040	T3156I	probably damaging	Het
Cntrl	A	G	2: 35,135,680	M674V	possibly damaging	Het
Cwc25	G	T	11: 97,754,029	Q168K	probably benign	Het
Dcbld2	C	T	16: 58,450,763	A301V	probably benign	Het
Dclre1a	T	C	19: 56,529,635	Y1004C	probably damaging	Het
Ddhd1	A	C	14: 45,657,753	S87A	probably benign	Het
Ear1	A	G	14: 43,819,154	C86R	probably damaging	Het
Epha5	T	C	5: 84,233,923		probably null	Het
Fat2	A	T	11: 55,281,045	Y2947*	probably null	Het
Fat4	G	A	3: 38,999,087	V4077M	possibly damaging	Het
Fbxl12	A	T	9: 20,639,008	V140E	probably damaging	Het
Fbxo16	A	G	14: 65,299,419		probably null	Het
Fto	A	T	8: 91,391,507	Q29L	probably benign	Het
Gk5	C	T	9: 96,145,712	T200M	probably damaging	Het
Gm5916	C	T	9: 36,128,650	G14E	possibly damaging	Het
Gm9972	A	T	11: 43,036,408		probably benign	Het
Gpr139	T	A	7: 119,145,099	M88L	probably benign	Het
Gpr26	T	C	7: 131,967,490	L188P	probably damaging	Het
Hbp1	A	T	12: 31,937,197	S219T	probably benign	Het
Hist1h2ab	G	T	13: 23,751,163	A11S	unknown	Het
Hr	A	T	14: 70,558,350	E445V	probably damaging	Het
Il12rb1	A	G	8: 70,816,453	K426E	probably benign	Het
Itgbl1	G	A	14: 123,973,297	C469Y	probably damaging	Het
Kdm2b	A	T	5: 122,921,469	N523K	probably damaging	Het
Kptn	A	G	7: 16,120,779	N125S	possibly damaging	Het
Krt17	T	C	11: 100,258,530	N238S	probably benign	Het
Lemd3	G	A	10: 120,978,240	R363*	probably null	Het
Mmrn1	G	A	6: 60,944,543		probably benign	Het
Mtus1	T	C	8: 41,084,487	D64G	probably damaging	Het
Muc16	A	G	9: 18,641,416	V4527A	probably benign	Het
Naip2	T	A	13: 100,187,483	D193V	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nf1	A	G	11: 79,469,819	H1462R	probably benign	Het
Olfr133	T	C	17: 38,149,074	V162A	probably benign	Het
Olfr988	A	T	2: 85,353,556	Y123*	probably null	Het
Pappa2	T	A	1: 158,936,886	T352S	possibly damaging	Het
Pcnt	A	G	10: 76,408,904	L1114P	probably damaging	Het
Pde6b	T	C	5: 108,404,090	Y212H	probably damaging	Het
Pik3c2g	A	T	6: 139,860,264	I604F		Het
Pld2	A	G	11: 70,553,372	D498G	probably benign	Het
Prag1	A	T	8: 36,146,615	Q1107L	probably damaging	Het
Pwp1	A	T	10: 85,876,309	I110F	probably benign	Het
Rims4	C	T	2: 163,864,061	V218I	probably benign	Het
Rnf10	C	T	5: 115,242,473	S754N	probably damaging	Het
Rnf10	T	C	5: 115,242,474	S754G	probably damaging	Het
Sel1l2	A	T	2: 140,244,135	V512E	probably damaging	Het
Shank2	T	A	7: 144,031,409	M49K	probably benign	Het
Sipa1	T	C	19: 5,660,523	D153G	probably damaging	Het
Slc46a2	C	T	4: 59,914,279	V215I	possibly damaging	Het
Slco6c1	G	A	1: 97,127,946	L77F	probably benign	Het
Smarca2	T	C	19: 26,647,131	L397P	possibly damaging	Het
Spg7	C	T	8: 123,090,232	A554V	probably damaging	Het
Stab1	T	A	14: 31,143,673	M1753L	probably benign	Het
Stk11	A	G	10: 80,116,618	M1V	probably null	Het
Supt6	C	A	11: 78,232,150	G136C	probably damaging	Het
Svil	G	T	18: 5,094,574	R1418L	probably damaging	Het
Tfg	A	G	16: 56,701,153	S167P	probably benign	Het
Timeless	T	C	10: 128,243,289	V335A	probably benign	Het
Tll2	C	A	19: 41,120,227	R328L	probably damaging	Het
Tomm7	T	C	5: 23,844,061	S5G	possibly damaging	Het
Ttc39c	G	A	18: 12,687,081		probably null	Het
Ttn	T	C	2: 76,725,761	E30300G	probably benign	Het
Tuba4a	A	T	1: 75,215,697	D452E	possibly damaging	Het
Tubgcp2	T	C	7: 140,008,014	I233V	probably benign	Het
Tubgcp5	T	A	7: 55,806,112	V296E	probably damaging	Het
Vmn2r53	T	C	7: 12,601,056	S226G	probably benign	Het
Xrcc6	T	C	15: 82,016,826		probably benign	Het
Zfhx4	C	A	3: 5,396,644	D1192E	probably benign	Het
Zfp180	G	T	7: 24,104,513	W119L	possibly damaging	Het
Zfp3	A	G	11: 70,772,525	I437V	probably benign	Het
Zfp616	A	T	11: 74,085,863	Q986L	probably benign	Het
Zfp937	T	A	2: 150,239,465	C472S	probably damaging	Het

Other mutations in Cry2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01995:Cry2	APN	2	92424632	missense	probably benign	0.15
IGL02167:Cry2	APN	2	92433821	missense	possibly damaging	0.93
IGL02183:Cry2	APN	2	92413039	missense	probably damaging	0.99
IGL02343:Cry2	APN	2	92426921	missense	possibly damaging	0.90
IGL02432:Cry2	APN	2	92413667	missense	probably damaging	0.99
IGL02725:Cry2	APN	2	92413260	splice site	probably benign
IGL02932:Cry2	APN	2	92413117	nonsense	probably null
IGL03122:Cry2	APN	2	92413295	missense	probably damaging	1.00
IGL03366:Cry2	APN	2	92413715	missense	probably damaging	1.00
R0679:Cry2	UTSW	2	92413715	missense	probably damaging	1.00
R1325:Cry2	UTSW	2	92413770	missense	probably damaging	1.00
R1862:Cry2	UTSW	2	92424566	missense	probably damaging	1.00
R1891:Cry2	UTSW	2	92413640	missense	possibly damaging	0.93
R2189:Cry2	UTSW	2	92411692	missense	possibly damaging	0.84
R4032:Cry2	UTSW	2	92413827	missense	probably benign	0.00
R4689:Cry2	UTSW	2	92424554	missense	probably benign	0.38
R5130:Cry2	UTSW	2	92424599	missense	probably benign	0.28
R5145:Cry2	UTSW	2	92413060	missense	probably benign
R5970:Cry2	UTSW	2	92412967	missense	probably benign	0.08
R6179:Cry2	UTSW	2	92413842	missense	probably damaging	0.98
R7102:Cry2	UTSW	2	92413093	missense	probably damaging	0.99
R7158:Cry2	UTSW	2	92413715	missense	probably damaging	1.00
R7257:Cry2	UTSW	2	92412981	missense	possibly damaging	0.67
R7378:Cry2	UTSW	2	92413664	missense	probably damaging	1.00
R7427:Cry2	UTSW	2	92413047	missense	possibly damaging	0.74
R7428:Cry2	UTSW	2	92413047	missense	possibly damaging	0.74
R7440:Cry2	UTSW	2	92413638	missense	probably damaging	1.00
R7531:Cry2	UTSW	2	92413005	missense	probably damaging	0.98
R8234:Cry2	UTSW	2	92412629	missense	probably benign
R8350:Cry2	UTSW	2	92413941	missense	probably benign	0.00
R8450:Cry2	UTSW	2	92413941	missense	probably benign	0.00
R8496:Cry2	UTSW	2	92426939	missense	probably damaging	1.00
R9172:Cry2	UTSW	2	92413648	missense	probably damaging	1.00
R9283:Cry2	UTSW	2	92413904	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAACACTATTACACCCTCAGGGAG -3'
(R):5'- TTCTTCTACACAGCGGCCAC -3'

Sequencing Primer
(F):5'- TCAGGGAGCCAGAGCCC -3'
(R):5'- ACCCCAGGTTTGACCGAATG -3'

Posted On

2019-06-26