Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Cdk5rap2'

19138

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

2900018K03Rik, an

MMRRC Submission

038305-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70216856-70410443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70243459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 270 (E270G)

Ref Sequence

ENSEMBL: ENSMUSP00000116928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076541] [ENSMUST00000138561] [ENSMUST00000144099]

AlphaFold

Q8K389

Predicted Effect

probably benign
Transcript: ENSMUST00000076541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124251

Predicted Effect

probably benign
Transcript: ENSMUST00000138561
AA Change: E270G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000116928
Gene: ENSMUSG00000039298
AA Change: E270G

Domain	Start	End	E-Value	Type
Blast:BRLZ	228	284	1e-13	BLAST
low complexity region	297	314	N/A	INTRINSIC
low complexity region	368	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144099
AA Change: E1521G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: E1521G

Domain	Start	End	E-Value	Type
Pfam:Cnn_1N	58	130	3.6e-26	PFAM
coiled coil region	210	345	N/A	INTRINSIC
low complexity region	368	381	N/A	INTRINSIC
coiled coil region	388	462	N/A	INTRINSIC
coiled coil region	569	616	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC
low complexity region	791	800	N/A	INTRINSIC
coiled coil region	960	1001	N/A	INTRINSIC
coiled coil region	1112	1140	N/A	INTRINSIC
coiled coil region	1200	1237	N/A	INTRINSIC
Blast:BRLZ	1479	1535	6e-13	BLAST
low complexity region	1548	1565	N/A	INTRINSIC
low complexity region	1619	1637	N/A	INTRINSIC
low complexity region	1700	1711	N/A	INTRINSIC
low complexity region	1811	1822	N/A	INTRINSIC

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity. [provided by MGI curators]

Allele List at MGI

All alleles(22) : Targeted, other(1) Gene trapped(20) Radiation induced(1)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,792,403 (GRCm38)	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,283,024 (GRCm38)		probably benign	Het
BC037034	T	C	5: 138,260,293 (GRCm38)		probably null	Het
Cd74	A	T	18: 60,809,071 (GRCm38)	H124L	probably benign	Het
Cldnd1	T	A	16: 58,731,259 (GRCm38)		probably benign	Het
Dennd4a	T	C	9: 64,896,715 (GRCm38)	L1112P	probably benign	Het
Evc2	T	A	5: 37,417,449 (GRCm38)	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,622,032 (GRCm38)	K16R	probably damaging	Het
Frem1	T	C	4: 83,000,098 (GRCm38)	I536V	probably benign	Het
Ginm1	T	C	10: 7,775,374 (GRCm38)		probably benign	Het
Glrb	A	T	3: 80,860,315 (GRCm38)		probably benign	Het
Glt6d1	C	A	2: 25,794,727 (GRCm38)		probably null	Het
Gm10320	T	C	13: 98,489,546 (GRCm38)	Y110C	probably damaging	Het
Intu	T	C	3: 40,654,272 (GRCm38)		probably benign	Het
Ltbp1	A	G	17: 75,363,391 (GRCm38)	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561 (GRCm38)	T374M	probably damaging	Het
Mitf	A	G	6: 97,807,281 (GRCm38)	K33R	probably benign	Het
Nlgn1	G	T	3: 25,435,842 (GRCm38)		probably benign	Het
Nup133	A	T	8: 123,904,579 (GRCm38)	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380 (GRCm38)	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349 (GRCm38)	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573 (GRCm38)	V958A	probably damaging	Het
Sgk1	G	A	10: 21,997,438 (GRCm38)		probably null	Het
Shprh	C	T	10: 11,151,931 (GRCm38)	T94I	probably benign	Het
Smg1	A	T	7: 118,171,859 (GRCm38)		probably benign	Het
Spta1	G	A	1: 174,217,943 (GRCm38)	V1556I	probably benign	Het
Trappc4	G	A	9: 44,405,231 (GRCm38)		probably benign	Het
Txlna	T	G	4: 129,629,086 (GRCm38)	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,830,636 (GRCm38)	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,848,349 (GRCm38)	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,423,530 (GRCm38)	V127G	probably damaging	Het
Zfp608	A	T	18: 54,895,214 (GRCm38)		probably benign	Het

Other mutations in Cdk5rap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Cdk5rap2	APN	4	70,403,472 (GRCm38)	critical splice donor site	probably null
IGL01305:Cdk5rap2	APN	4	70,380,235 (GRCm38)	missense	possibly damaging	0.52
IGL01987:Cdk5rap2	APN	4	70,302,082 (GRCm38)	critical splice donor site	probably null
IGL02213:Cdk5rap2	APN	4	70,317,602 (GRCm38)	splice site	probably benign
IGL02732:Cdk5rap2	APN	4	70,266,665 (GRCm38)	nonsense	probably null
IGL03063:Cdk5rap2	APN	4	70,354,877 (GRCm38)	critical splice acceptor site	probably null
IGL03244:Cdk5rap2	APN	4	70,281,435 (GRCm38)	missense	probably benign	0.19
ANU22:Cdk5rap2	UTSW	4	70,380,235 (GRCm38)	missense	possibly damaging	0.52
F5426:Cdk5rap2	UTSW	4	70,254,803 (GRCm38)	missense	probably benign
R0010:Cdk5rap2	UTSW	4	70,243,459 (GRCm38)	missense	probably benign	0.01
R0044:Cdk5rap2	UTSW	4	70,360,901 (GRCm38)	missense	probably damaging	1.00
R0044:Cdk5rap2	UTSW	4	70,360,901 (GRCm38)	missense	probably damaging	1.00
R0482:Cdk5rap2	UTSW	4	70,410,269 (GRCm38)	start gained	probably benign
R0548:Cdk5rap2	UTSW	4	70,349,142 (GRCm38)	critical splice donor site	probably null
R0594:Cdk5rap2	UTSW	4	70,354,813 (GRCm38)	missense	probably damaging	0.98
R0737:Cdk5rap2	UTSW	4	70,337,375 (GRCm38)	missense	probably benign	0.01
R0788:Cdk5rap2	UTSW	4	70,307,231 (GRCm38)	missense	possibly damaging	0.90
R0960:Cdk5rap2	UTSW	4	70,243,508 (GRCm38)	missense	probably benign	0.03
R1682:Cdk5rap2	UTSW	4	70,302,150 (GRCm38)	missense	possibly damaging	0.92
R1727:Cdk5rap2	UTSW	4	70,289,972 (GRCm38)	missense	possibly damaging	0.70
R1727:Cdk5rap2	UTSW	4	70,272,679 (GRCm38)	missense	probably benign
R1768:Cdk5rap2	UTSW	4	70,307,233 (GRCm38)	missense	probably benign	0.09
R1903:Cdk5rap2	UTSW	4	70,403,554 (GRCm38)	splice site	probably null
R2270:Cdk5rap2	UTSW	4	70,266,678 (GRCm38)	missense	probably benign	0.01
R2271:Cdk5rap2	UTSW	4	70,266,678 (GRCm38)	missense	probably benign	0.01
R2272:Cdk5rap2	UTSW	4	70,266,678 (GRCm38)	missense	probably benign	0.01
R2364:Cdk5rap2	UTSW	4	70,360,809 (GRCm38)	critical splice donor site	probably null
R2763:Cdk5rap2	UTSW	4	70,281,271 (GRCm38)	missense	probably benign
R2893:Cdk5rap2	UTSW	4	70,289,873 (GRCm38)	missense	probably benign
R2894:Cdk5rap2	UTSW	4	70,289,873 (GRCm38)	missense	probably benign
R2958:Cdk5rap2	UTSW	4	70,289,977 (GRCm38)	frame shift	probably null
R2959:Cdk5rap2	UTSW	4	70,289,977 (GRCm38)	frame shift	probably null
R2961:Cdk5rap2	UTSW	4	70,289,977 (GRCm38)	frame shift	probably null
R2962:Cdk5rap2	UTSW	4	70,289,977 (GRCm38)	frame shift	probably null
R2963:Cdk5rap2	UTSW	4	70,289,977 (GRCm38)	frame shift	probably null
R3522:Cdk5rap2	UTSW	4	70,250,410 (GRCm38)	missense	probably damaging	1.00
R3725:Cdk5rap2	UTSW	4	70,235,437 (GRCm38)	missense	possibly damaging	0.89
R3726:Cdk5rap2	UTSW	4	70,235,437 (GRCm38)	missense	possibly damaging	0.89
R3876:Cdk5rap2	UTSW	4	70,289,977 (GRCm38)	frame shift	probably null
R3919:Cdk5rap2	UTSW	4	70,380,223 (GRCm38)	missense	possibly damaging	0.50
R4025:Cdk5rap2	UTSW	4	70,250,387 (GRCm38)	missense	probably damaging	0.98
R4324:Cdk5rap2	UTSW	4	70,353,614 (GRCm38)	missense	probably damaging	1.00
R4485:Cdk5rap2	UTSW	4	70,239,283 (GRCm38)	critical splice donor site	probably null
R4516:Cdk5rap2	UTSW	4	70,276,715 (GRCm38)	splice site	probably null
R4556:Cdk5rap2	UTSW	4	70,239,312 (GRCm38)	missense	probably damaging	0.97
R4560:Cdk5rap2	UTSW	4	70,315,331 (GRCm38)	missense	probably benign	0.03
R4584:Cdk5rap2	UTSW	4	70,266,760 (GRCm38)	missense	probably damaging	1.00
R4620:Cdk5rap2	UTSW	4	70,266,706 (GRCm38)	missense	probably benign	0.00
R4639:Cdk5rap2	UTSW	4	70,302,176 (GRCm38)	missense	probably damaging	0.97
R4755:Cdk5rap2	UTSW	4	70,238,425 (GRCm38)	missense	probably damaging	1.00
R4947:Cdk5rap2	UTSW	4	70,228,592 (GRCm38)	splice site	probably null
R5116:Cdk5rap2	UTSW	4	70,307,238 (GRCm38)	missense	possibly damaging	0.67
R5449:Cdk5rap2	UTSW	4	70,276,651 (GRCm38)	missense	probably benign	0.00
R5643:Cdk5rap2	UTSW	4	70,266,733 (GRCm38)	missense	probably damaging	0.99
R5899:Cdk5rap2	UTSW	4	70,243,593 (GRCm38)	splice site	probably benign
R6177:Cdk5rap2	UTSW	4	70,281,482 (GRCm38)	missense	probably damaging	0.99
R6254:Cdk5rap2	UTSW	4	70,364,032 (GRCm38)	missense	probably damaging	1.00
R6326:Cdk5rap2	UTSW	4	70,235,454 (GRCm38)	missense	probably damaging	1.00
R6335:Cdk5rap2	UTSW	4	70,266,612 (GRCm38)	missense	possibly damaging	0.79
R6534:Cdk5rap2	UTSW	4	70,354,813 (GRCm38)	missense	probably damaging	0.98
R6857:Cdk5rap2	UTSW	4	70,245,396 (GRCm38)	nonsense	probably null
R6959:Cdk5rap2	UTSW	4	70,360,669 (GRCm38)	splice site	probably null
R7104:Cdk5rap2	UTSW	4	70,349,156 (GRCm38)	missense	probably benign	0.00
R7145:Cdk5rap2	UTSW	4	70,238,231 (GRCm38)	missense	probably benign	0.13
R7223:Cdk5rap2	UTSW	4	70,235,447 (GRCm38)	missense	probably benign	0.02
R7234:Cdk5rap2	UTSW	4	70,376,787 (GRCm38)	splice site	probably null
R7240:Cdk5rap2	UTSW	4	70,291,908 (GRCm38)	missense	probably damaging	1.00
R7247:Cdk5rap2	UTSW	4	70,337,429 (GRCm38)	missense	probably damaging	1.00
R7382:Cdk5rap2	UTSW	4	70,290,025 (GRCm38)	missense	probably benign	0.19
R7413:Cdk5rap2	UTSW	4	70,254,735 (GRCm38)	missense	probably damaging	1.00
R7576:Cdk5rap2	UTSW	4	70,266,872 (GRCm38)	missense	probably benign	0.01
R8236:Cdk5rap2	UTSW	4	70,242,485 (GRCm38)	missense	probably benign
R8434:Cdk5rap2	UTSW	4	70,364,020 (GRCm38)	missense	probably benign	0.00
R8688:Cdk5rap2	UTSW	4	70,380,273 (GRCm38)	missense	probably damaging	1.00
R8706:Cdk5rap2	UTSW	4	70,239,325 (GRCm38)	missense	probably benign	0.08
R8731:Cdk5rap2	UTSW	4	70,245,510 (GRCm38)	splice site	probably benign
R8782:Cdk5rap2	UTSW	4	70,243,475 (GRCm38)	missense	possibly damaging	0.57
R8855:Cdk5rap2	UTSW	4	70,300,650 (GRCm38)	missense	probably damaging	1.00
R8965:Cdk5rap2	UTSW	4	70,266,805 (GRCm38)	missense	probably benign	0.30
R9242:Cdk5rap2	UTSW	4	70,337,346 (GRCm38)	missense	possibly damaging	0.46
R9308:Cdk5rap2	UTSW	4	70,410,267 (GRCm38)	start codon destroyed	probably null	0.99
R9396:Cdk5rap2	UTSW	4	70,264,658 (GRCm38)	missense	probably damaging	0.97
R9396:Cdk5rap2	UTSW	4	70,254,666 (GRCm38)	missense	possibly damaging	0.75
R9507:Cdk5rap2	UTSW	4	70,291,873 (GRCm38)	missense	probably benign
Z1176:Cdk5rap2	UTSW	4	70,266,743 (GRCm38)	missense	probably damaging	0.99

Posted On

2013-03-25