Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Cry2'

557417

Institutional Source

Beutler Lab

Gene Symbol

Cry2

Ensembl Gene

ENSMUSG00000068742

Gene Name

cryptochrome 2 (photolyase-like)

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R7158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92403646-92434043 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92413715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 371 (I371N)

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: I371N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088047
Gene: ENSMUSG00000068742
AA Change: I371N

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: I371N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106909
Gene: ENSMUSG00000068742
AA Change: I371N

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

0.9456

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (68/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,273,982	M454L	probably benign	Het
Abca8b	T	A	11: 109,934,589	E1595V	probably damaging	Het
Actr5	T	A	2: 158,626,414	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,194,058	V73E	probably benign	Het
Add2	T	C	6: 86,085,952	Y31H	probably damaging	Het
Akap13	G	T	7: 75,579,594	V92F	probably damaging	Het
Alox8	T	A	11: 69,185,870	M568L	probably benign	Het
Birc6	A	T	17: 74,594,376	E1145V	probably benign	Het
Cacng1	A	T	11: 107,703,839	M166K	probably damaging	Het
Ces1f	A	G	8: 93,268,016	F256L	probably benign	Het
Clpb	A	G	7: 101,663,832	R8G	probably benign	Het
Col6a5	A	G	9: 105,864,208	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,179,184	D93G	probably benign	Het
Ddx43	A	C	9: 78,412,219	Q276H	probably damaging	Het
Dock10	T	C	1: 80,586,872		probably null	Het
Dst	A	G	1: 34,274,285	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,790	T459A	probably benign	Het
Gm10097	C	T	10: 5,069,407	A72V	unknown	Het
Hydin	A	G	8: 110,609,671	S5027G	possibly damaging	Het
Inhbb	A	T	1: 119,421,022	L22*	probably null	Het
Kat8	G	A	7: 127,922,159	G228S	probably benign	Het
Kif15	T	A	9: 122,999,314	S897T	probably benign	Het
Kndc1	A	G	7: 139,931,860	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,951,806	D225V	probably benign	Het
Lama3	A	T	18: 12,456,812	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121	T2580K	probably benign	Het
Mest	T	C	6: 30,744,914	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,526,869	F470L	probably benign	Het
Nfic	C	T	10: 81,420,605	R75Q	probably damaging	Het
Nme2	G	A	11: 93,955,658		probably benign	Het
Nrg4	A	G	9: 55,242,100	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,379,742	E365K	possibly damaging	Het
Pappa	T	C	4: 65,204,867	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,720,885	E111G	probably damaging	Het
Pdzd8	C	T	19: 59,300,157	R937H	probably damaging	Het
Per1	T	G	11: 69,104,104		probably benign	Het
Pex2	A	G	3: 5,561,336	F138L	probably benign	Het
Pold1	A	T	7: 44,538,866	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,152,038	I316V		Het
Prom1	A	C	5: 44,012,913	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,152,553	K481E	probably damaging	Het
Prrg4	A	T	2: 104,832,613	V216E	probably damaging	Het
Ptch2	C	T	4: 117,114,784	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,918,637	E118*	probably null	Het
R3hcc1l	C	T	19: 42,583,429	P716S	probably damaging	Het
Rasa4	A	G	5: 136,102,021	E382G	probably damaging	Het
Rbp3	T	A	14: 33,955,556	M487K	probably benign	Het
Rsad2	A	T	12: 26,450,780		probably null	Het
Shmt1	T	C	11: 60,790,242	I353V	probably benign	Het
Shprh	C	T	10: 11,166,730	T819I	probably damaging	Het
Skap1	T	A	11: 96,526,057	F56Y	possibly damaging	Het
Slc22a16	G	T	10: 40,573,741	V79L	possibly damaging	Het
Slc34a1	A	G	13: 55,401,231	T165A	probably damaging	Het
Smchd1	A	C	17: 71,400,150	I941R	probably damaging	Het
Syne1	C	A	10: 5,057,931	V98F	probably damaging	Het
Tcaim	A	G	9: 122,818,990	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,036,366	E816D	probably benign	Het
Tmem132d	T	C	5: 128,137,019	K326E	possibly damaging	Het
Uhrf1bp1	T	A	17: 27,886,433	C644*	probably null	Het
Usp35	T	C	7: 97,325,964	M1V	probably null	Het
Wdr62	C	T	7: 30,270,738	V215I	possibly damaging	Het
Zan	T	C	5: 137,400,644	T4153A	unknown	Het
Zfp239	G	T	6: 117,871,729	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679	D1460G	probably benign	Het
Zfp647	C	T	15: 76,917,305	G90R	probably benign	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
R7213:Cry2	UTSW	2	92413659	missense	probably benign	0.00
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'- GTAACACTATTACACCCTCAGGG -3'
(R):5'- TTCTTCTACACAGCGGCCAC -3'

Sequencing Primer
(F):5'- AGAGCCCTTCTGCTGAGG -3'
(R):5'- ACCAACAACCCCAGGTTTG -3'

Posted On

2019-06-26