Mutagenetix > Incidental Mutation

Incidental Mutation 'R7031:Cry1'

546334

Institutional Source

Beutler Lab

Gene Symbol

Cry1

Ensembl Gene

ENSMUSG00000020038

Gene Name

cryptochrome circadian regulator 1

Synonyms

Phll1

MMRRC Submission

045132-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84967564-85020918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84984526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 183 (S183P)

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 benign
Transcript: ENSMUST00000020227
AA Change: S183P

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

SMART Domains

Protein: ENSMUSP00000020227
Gene: ENSMUSG00000020038
AA Change: S183P

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

probably benign
Transcript: ENSMUST00000214675

Coding Region Coverage

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

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. 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,833,058 (GRCm39)	N39S	probably benign	Het
Abca13	C	T	11: 9,571,892 (GRCm39)	R4818C	probably damaging	Het
Acadsb	A	G	7: 131,045,366 (GRCm39)	I433V	probably benign	Het
Acsl3	T	A	1: 78,666,000 (GRCm39)	I142N	probably benign	Het
Api5	G	A	2: 94,255,961 (GRCm39)	T242M	probably benign	Het
Brme1	C	A	8: 84,893,313 (GRCm39)	P160Q	possibly damaging	Het
Ccdc88c	T	C	12: 100,911,323 (GRCm39)	E37G	probably damaging	Het
Cfap96	T	C	8: 46,421,140 (GRCm39)	I128V	probably benign	Het
Cntnap4	C	A	8: 113,584,874 (GRCm39)	Q1104K	probably benign	Het
Cuzd1	A	T	7: 130,910,580 (GRCm39)	F572I	probably benign	Het
Dcbld1	A	T	10: 52,166,985 (GRCm39)	D104V	probably damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dhx15	T	C	5: 52,341,931 (GRCm39)	D129G	probably benign	Het
Drd3	T	A	16: 43,582,861 (GRCm39)	V86E	probably damaging	Het
Ebf1	A	G	11: 44,512,795 (GRCm39)	T135A	possibly damaging	Het
Epha5	T	C	5: 84,290,159 (GRCm39)	I428V	probably benign	Het
Epx	T	A	11: 87,766,349 (GRCm39)		probably benign	Het
Fam83d	T	A	2: 158,627,227 (GRCm39)	N305K	probably benign	Het
Gchfr	T	A	2: 119,000,236 (GRCm39)	V39D	probably benign	Het
Ggnbp2	A	G	11: 84,751,467 (GRCm39)	L111P	probably damaging	Het
Gnal	G	A	18: 67,355,659 (GRCm39)	G340D	probably damaging	Het
Gpat2	A	G	2: 127,277,395 (GRCm39)	E745G	probably damaging	Het
Gpbp1l1	C	T	4: 116,450,045 (GRCm39)	R438C	probably damaging	Het
Hmgxb4	C	T	8: 75,756,200 (GRCm39)	Q171*	probably null	Het
Igkv4-91	G	T	6: 68,745,542 (GRCm39)	R119S	possibly damaging	Het
Ing2	T	C	8: 48,121,858 (GRCm39)	D230G	probably benign	Het
Itfg2	A	G	6: 128,393,017 (GRCm39)	V82A	probably damaging	Het
Klhl22	T	C	16: 17,594,890 (GRCm39)	S340P	probably damaging	Het
Lipm	A	T	19: 34,093,871 (GRCm39)	M263L	probably benign	Het
Ly96	A	T	1: 16,758,787 (GRCm39)	E19V	possibly damaging	Het
Mark1	C	T	1: 184,644,829 (GRCm39)	E376K	possibly damaging	Het
Mlip	T	A	9: 77,045,835 (GRCm39)	M375L	probably benign	Het
Mug1	A	T	6: 121,815,673 (GRCm39)	N26Y	probably benign	Het
Or2ad1	C	T	13: 21,327,170 (GRCm39)	S19N	probably benign	Het
Or55b3	T	A	7: 102,127,057 (GRCm39)	T7S	probably benign	Het
Or5m3	C	T	2: 85,838,939 (GRCm39)	A273V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rb1cc1	T	C	1: 6,308,690 (GRCm39)		probably null	Het
Rgs4	T	C	1: 169,571,336 (GRCm39)	T178A	probably benign	Het
Sel1l2	T	A	2: 140,182,043 (GRCm39)	K31N	possibly damaging	Het
Serpinf1	T	C	11: 75,301,022 (GRCm39)	R398G	probably damaging	Het
Sgo2b	C	T	8: 64,393,078 (GRCm39)	E120K	possibly damaging	Het
Stard9	T	C	2: 120,530,931 (GRCm39)	F2396S	possibly damaging	Het
Trgv6	G	A	13: 19,374,610 (GRCm39)	E25K	probably benign	Het
Trpc3	A	C	3: 36,675,459 (GRCm39)	I893S	probably benign	Het
Trpc4ap	C	A	2: 155,534,135 (GRCm39)	R31L	unknown	Het
Vat1l	A	G	8: 114,998,172 (GRCm39)	R239G	possibly damaging	Het
Vmn1r56	T	A	7: 5,199,261 (GRCm39)	R119*	probably null	Het
Vmn2r111	T	C	17: 22,790,226 (GRCm39)	Y260C	probably damaging	Het
Zfp664	A	G	5: 124,963,070 (GRCm39)	T155A	probably benign	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
R5717:Cry1	UTSW	10	84,982,280 (GRCm39)	missense	probably damaging	1.00
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'- CAGTCACAGTTTAAGAATGCACATGAG -3'
(R):5'- GCTTATCAGCCAAGCTATATTAGC -3'

Sequencing Primer
(F):5'- GGGAATTTCACACATCGTATTCTG -3'
(R):5'- TTTCAGACTCTCGTCAGC -3'

Posted On

2019-05-13