Mutagenetix > Incidental Mutation

Incidental Mutation 'R7531:Cry2'

583296

Institutional Source

Beutler Lab

Gene Symbol

Cry2

Ensembl Gene

ENSMUSG00000068742

Gene Name

cryptochrome circadian regulator 2

Synonyms

D130054K12Rik

MMRRC Submission

045603-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

R7531 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92233991-92264388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92243350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 497 (L497P)

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 damaging
Transcript: ENSMUST00000090559
AA Change: L497P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088047
Gene: ENSMUSG00000068742
AA Change: L497P

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: L497P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106909
Gene: ENSMUSG00000068742
AA Change: L497P

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,286,332 (GRCm39)	T2501S	probably damaging	Het
Abcg3	A	G	5: 105,125,507 (GRCm39)	Y59H	probably benign	Het
Acsf2	G	T	11: 94,464,057 (GRCm39)		probably null	Het
Adam25	T	A	8: 41,206,914 (GRCm39)	I60K	probably damaging	Het
Agrn	A	T	4: 156,254,261 (GRCm39)	V1729E	probably damaging	Het
Aldh9a1	G	A	1: 167,177,895 (GRCm39)	V31I	probably benign	Het
Aqp5	T	C	15: 99,489,180 (GRCm39)	F10L	possibly damaging	Het
Arfgap2	T	A	2: 91,104,089 (GRCm39)		probably null	Het
Asb7	T	C	7: 66,328,884 (GRCm39)	H52R	probably damaging	Het
Aspa	G	A	11: 73,204,351 (GRCm39)	Q206*	probably null	Het
Bpgm	A	G	6: 34,481,223 (GRCm39)	I207V	possibly damaging	Het
Brinp2	A	G	1: 158,094,142 (GRCm39)	S187P	possibly damaging	Het
Clec4e	A	G	6: 123,262,533 (GRCm39)	F128S	probably benign	Het
Crisp3	A	G	17: 40,545,629 (GRCm39)	F82L	probably benign	Het
Dcxr	A	G	11: 120,617,832 (GRCm39)	V48A	probably benign	Het
Ddx11	A	T	17: 66,445,214 (GRCm39)	T379S	probably benign	Het
Depdc1a	A	C	3: 159,228,276 (GRCm39)	T343P	probably damaging	Het
Dhx36	T	C	3: 62,392,389 (GRCm39)	I546V	probably damaging	Het
Fam114a2	A	G	11: 57,404,542 (GRCm39)	V74A	probably benign	Het
Fcgbpl1	T	C	7: 27,839,656 (GRCm39)	F490L	probably benign	Het
Flg2	A	T	3: 93,108,177 (GRCm39)	R68S	probably damaging	Het
Glb1l3	T	C	9: 26,764,950 (GRCm39)	I154V	possibly damaging	Het
Gm45844	T	C	7: 7,243,185 (GRCm39)	T22A	probably benign	Het
Gramd2a	A	T	9: 59,617,193 (GRCm39)	I83F	probably damaging	Het
Hcn4	A	G	9: 58,767,420 (GRCm39)	T994A	unknown	Het
Hectd1	C	T	12: 51,853,150 (GRCm39)	V124I	probably benign	Het
Hmcn1	A	T	1: 150,562,531 (GRCm39)	D2342E	probably benign	Het
Hyal6	A	T	6: 24,740,786 (GRCm39)	H313L	possibly damaging	Het
Ifnab	T	A	4: 88,609,523 (GRCm39)		probably benign	Het
Keap1	A	G	9: 21,148,623 (GRCm39)	I128T	probably benign	Het
Kit	T	C	5: 75,767,700 (GRCm39)	S28P	probably damaging	Het
Krtap5-3	T	A	7: 141,755,942 (GRCm39)	C260S	unknown	Het
Lepr	T	A	4: 101,609,372 (GRCm39)	W320R	probably damaging	Het
Lmod3	A	T	6: 97,225,403 (GRCm39)	N139K	probably benign	Het
Marchf1	C	G	8: 66,838,989 (GRCm39)	S10R	probably benign	Het
Naa35	A	T	13: 59,765,755 (GRCm39)	K380*	probably null	Het
Npy1r	C	A	8: 67,157,546 (GRCm39)	F285L	probably damaging	Het
Nr1h3	C	T	2: 91,014,739 (GRCm39)	R427H	probably damaging	Het
Or5p79	T	A	7: 108,221,269 (GRCm39)	N83K	probably benign	Het
Pate2	A	G	9: 35,582,008 (GRCm39)		probably null	Het
Pcmt1	A	G	10: 7,556,369 (GRCm39)		probably null	Het
Prg4	T	G	1: 150,330,786 (GRCm39)	E629A	unknown	Het
Rin2	T	G	2: 145,700,419 (GRCm39)	S199A	probably benign	Het
Ror1	T	A	4: 100,298,388 (GRCm39)	L587Q	probably damaging	Het
Rsl1	T	A	13: 67,324,566 (GRCm39)	C31S	possibly damaging	Het
Scn4a	A	G	11: 106,239,523 (GRCm39)		probably null	Het
Sema3a	T	C	5: 13,615,805 (GRCm39)	Y410H	probably damaging	Het
Smpd5	T	C	15: 76,180,539 (GRCm39)	V447A	probably benign	Het
Tax1bp1	A	T	6: 52,723,682 (GRCm39)	D524V	probably benign	Het
Tesc	A	T	5: 118,197,523 (GRCm39)	Y179F	probably damaging	Het
Tm9sf2	T	C	14: 122,379,824 (GRCm39)	S292P	possibly damaging	Het
Unc45b	A	G	11: 82,819,838 (GRCm39)	D543G	probably damaging	Het
Usp4	T	A	9: 108,249,879 (GRCm39)	V469E	probably damaging	Het
Vmn1r10	T	A	6: 57,090,924 (GRCm39)	I172N	possibly damaging	Het
Zfyve16	A	G	13: 92,659,473 (GRCm39)	L146S	probably 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
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
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'- AATACCCCACAGCCGCTTTG -3'
(R):5'- CCCTTTAAAGAAGAGTCACAGTG -3'

Sequencing Primer
(F):5'- TCCCTTGGTGAGTGAGAT -3'
(R):5'- CACAGTGTGCTGATACATTACCTGG -3'

Posted On

2019-10-17