Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03063:Cdk5rap2'

409566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

2900018K03Rik, an

Accession Numbers

Genbank: NM_145990.3

Essential gene?

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

Stock #

IGL03063

Quality Score

Status

Chromosome

Chromosomal Location

70216856-70410443 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 70354877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119891 (fasta)

Gene Model

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

AlphaFold

Q8K389

Predicted Effect

probably benign
Transcript: ENSMUST00000076541

Predicted Effect

probably null
Transcript: ENSMUST00000144099

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298

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

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 46,016,432 (GRCm38)	V255I	probably benign	Het
Arfgef2	T	C	2: 166,859,782 (GRCm38)		probably benign	Het
Bpifb2	A	T	2: 153,889,124 (GRCm38)	Q205L	probably damaging	Het
Ccdc30	C	T	4: 119,349,767 (GRCm38)	R386Q	possibly damaging	Het
Comtd1	A	G	14: 21,847,667 (GRCm38)		probably null	Het
Dao	T	C	5: 114,021,015 (GRCm38)	C261R	probably damaging	Het
Dner	A	G	1: 84,585,338 (GRCm38)	V187A	possibly damaging	Het
Dsg3	T	C	18: 20,533,368 (GRCm38)		probably benign	Het
Eif3j2	A	G	18: 43,477,379 (GRCm38)	L123P	possibly damaging	Het
Esf1	G	A	2: 140,154,786 (GRCm38)		probably benign	Het
Exo5	G	A	4: 120,921,633 (GRCm38)	T345I	possibly damaging	Het
Fancl	A	T	11: 26,387,299 (GRCm38)	I29F	probably damaging	Het
Gadl1	C	T	9: 115,966,267 (GRCm38)	H313Y	probably damaging	Het
Gm17190	G	A	13: 96,082,762 (GRCm38)		probably benign	Het
Gtf3c1	G	T	7: 125,646,503 (GRCm38)	T1580N	possibly damaging	Het
Gtf3c6	T	A	10: 40,251,159 (GRCm38)	I66L	probably benign	Het
Hhla1	A	G	15: 65,941,790 (GRCm38)	I231T	probably damaging	Het
Hk2	A	G	6: 82,739,649 (GRCm38)	Y273H	probably damaging	Het
Hk2	A	G	6: 82,749,232 (GRCm38)	I83T	probably benign	Het
Ifit1	T	C	19: 34,648,004 (GRCm38)	V180A	possibly damaging	Het
Igkv9-129	A	T	6: 67,840,188 (GRCm38)	D92V	probably damaging	Het
Lrrc1	A	G	9: 77,499,269 (GRCm38)	F36S	probably damaging	Het
Man1b1	A	G	2: 25,334,404 (GRCm38)	E102G	possibly damaging	Het
Myh8	A	G	11: 67,288,205 (GRCm38)	S475G	probably benign	Het
Olfr593	T	A	7: 103,212,634 (GRCm38)	V247D	probably damaging	Het
Otud4	T	A	8: 79,663,790 (GRCm38)	M343K	probably benign	Het
Peg10	A	T	6: 4,756,647 (GRCm38)		probably benign	Het
Plet1	T	A	9: 50,504,422 (GRCm38)	N197K	probably benign	Het
Ppp1r12a	C	T	10: 108,261,254 (GRCm38)	R243C	probably damaging	Het
Serpinb10	A	T	1: 107,542,227 (GRCm38)	K146N	possibly damaging	Het
Sis	A	G	3: 72,928,297 (GRCm38)	F911L	probably benign	Het
Spon1	G	A	7: 114,033,025 (GRCm38)	V528M	possibly damaging	Het
Tdrd9	T	C	12: 112,044,299 (GRCm38)	V1100A	probably benign	Het
Tmtc3	T	C	10: 100,447,606 (GRCm38)	M696V	probably benign	Het
Triobp	A	G	15: 78,990,884 (GRCm38)	E122G	probably damaging	Het
Wt1	G	A	2: 105,170,023 (GRCm38)		probably null	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
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
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

2016-08-02