Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02213:Cdk5rap2'

284769

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

an, 2900018K03Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

IGL02213

Quality Score

Status

Chromosome

Chromosomal Location

70135092-70328672 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 70235839 bp (GRCm39)

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 benign
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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	G	A	9: 54,523,254 (GRCm39)	R458C	probably damaging	Het
Aldh6a1	T	A	12: 84,479,326 (GRCm39)		probably benign	Het
Ankrd13a	C	T	5: 114,924,029 (GRCm39)	R42W	probably damaging	Het
Arhgef17	T	C	7: 100,539,633 (GRCm39)	M73V	probably benign	Het
Borcs6	A	G	11: 68,950,679 (GRCm39)	E19G	probably benign	Het
Cacna2d2	C	T	9: 107,391,247 (GRCm39)	R425C	probably damaging	Het
Cap2	T	A	13: 46,789,087 (GRCm39)		probably benign	Het
Ccdc146	C	T	5: 21,521,902 (GRCm39)	R374H	probably benign	Het
Cyp3a57	A	G	5: 145,318,090 (GRCm39)	D357G	probably damaging	Het
Dleu7	C	T	14: 62,514,404 (GRCm39)	V193M	probably benign	Het
Dmxl1	T	A	18: 50,010,741 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,272,752 (GRCm39)	F2293L	probably damaging	Het
Fgf22	G	T	10: 79,592,449 (GRCm39)	V75L	probably damaging	Het
Fras1	C	A	5: 96,793,730 (GRCm39)	C1017*	probably null	Het
Frmd3	A	C	4: 74,054,109 (GRCm39)	I173L	probably benign	Het
Fst	T	C	13: 114,592,390 (GRCm39)	N109S	possibly damaging	Het
Greb1	A	G	12: 16,756,233 (GRCm39)	L801P	probably damaging	Het
Ift88	A	G	14: 57,715,502 (GRCm39)	D515G	probably damaging	Het
Kcnh7	T	C	2: 62,569,706 (GRCm39)	D730G	probably damaging	Het
Mbd1	A	T	18: 74,408,453 (GRCm39)	I231F	probably damaging	Het
Mre11a	T	A	9: 14,723,180 (GRCm39)	F358I	probably damaging	Het
Mroh9	G	T	1: 162,885,648 (GRCm39)	T328K	probably damaging	Het
Nostrin	T	C	2: 69,014,262 (GRCm39)	L406P	probably benign	Het
Ntrk3	T	A	7: 78,112,679 (GRCm39)	Q159L	probably benign	Het
Oca2	T	C	7: 55,971,232 (GRCm39)		probably benign	Het
Or4k49	A	T	2: 111,495,020 (GRCm39)	T150S	probably benign	Het
Or51af1	T	A	7: 103,141,695 (GRCm39)	H130L	probably benign	Het
Or5p54	T	C	7: 107,554,511 (GRCm39)	I221T	probably damaging	Het
Pfdn4	C	T	2: 170,357,695 (GRCm39)	Q21*	probably null	Het
Pkd1l3	T	C	8: 110,357,977 (GRCm39)	F823S	probably damaging	Het
Rnf212	C	T	5: 108,895,276 (GRCm39)		probably benign	Het
Sbspon	T	C	1: 15,929,150 (GRCm39)	S214G	probably benign	Het
Slc12a7	T	C	13: 73,945,822 (GRCm39)		probably null	Het
Ugt3a1	A	T	15: 9,370,310 (GRCm39)	M485L	probably benign	Het
Vav1	T	C	17: 57,612,351 (GRCm39)	V561A	possibly damaging	Het
Vldlr	A	G	19: 27,218,726 (GRCm39)	T485A	probably benign	Het
Wiz	T	C	17: 32,586,834 (GRCm39)	T159A	probably benign	Het

Other mutations in Cdk5rap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Cdk5rap2	APN	4	70,321,709 (GRCm39)	critical splice donor site	probably null
IGL01305:Cdk5rap2	APN	4	70,298,472 (GRCm39)	missense	possibly damaging	0.52
IGL01987:Cdk5rap2	APN	4	70,220,319 (GRCm39)	critical splice donor site	probably null
IGL02732:Cdk5rap2	APN	4	70,184,902 (GRCm39)	nonsense	probably null
IGL03063:Cdk5rap2	APN	4	70,273,114 (GRCm39)	critical splice acceptor site	probably null
IGL03244:Cdk5rap2	APN	4	70,199,672 (GRCm39)	missense	probably benign	0.19
ANU22:Cdk5rap2	UTSW	4	70,298,472 (GRCm39)	missense	possibly damaging	0.52
F5426:Cdk5rap2	UTSW	4	70,173,040 (GRCm39)	missense	probably benign
R0010:Cdk5rap2	UTSW	4	70,161,696 (GRCm39)	missense	probably benign	0.01
R0010:Cdk5rap2	UTSW	4	70,161,696 (GRCm39)	missense	probably benign	0.01
R0044:Cdk5rap2	UTSW	4	70,279,138 (GRCm39)	missense	probably damaging	1.00
R0044:Cdk5rap2	UTSW	4	70,279,138 (GRCm39)	missense	probably damaging	1.00
R0482:Cdk5rap2	UTSW	4	70,328,506 (GRCm39)	start gained	probably benign
R0548:Cdk5rap2	UTSW	4	70,267,379 (GRCm39)	critical splice donor site	probably null
R0594:Cdk5rap2	UTSW	4	70,273,050 (GRCm39)	missense	probably damaging	0.98
R0737:Cdk5rap2	UTSW	4	70,255,612 (GRCm39)	missense	probably benign	0.01
R0788:Cdk5rap2	UTSW	4	70,225,468 (GRCm39)	missense	possibly damaging	0.90
R0960:Cdk5rap2	UTSW	4	70,161,745 (GRCm39)	missense	probably benign	0.03
R1682:Cdk5rap2	UTSW	4	70,220,387 (GRCm39)	missense	possibly damaging	0.92
R1727:Cdk5rap2	UTSW	4	70,208,209 (GRCm39)	missense	possibly damaging	0.70
R1727:Cdk5rap2	UTSW	4	70,190,916 (GRCm39)	missense	probably benign
R1768:Cdk5rap2	UTSW	4	70,225,470 (GRCm39)	missense	probably benign	0.09
R1903:Cdk5rap2	UTSW	4	70,321,791 (GRCm39)	splice site	probably null
R2270:Cdk5rap2	UTSW	4	70,184,915 (GRCm39)	missense	probably benign	0.01
R2271:Cdk5rap2	UTSW	4	70,184,915 (GRCm39)	missense	probably benign	0.01
R2272:Cdk5rap2	UTSW	4	70,184,915 (GRCm39)	missense	probably benign	0.01
R2364:Cdk5rap2	UTSW	4	70,279,046 (GRCm39)	critical splice donor site	probably null
R2763:Cdk5rap2	UTSW	4	70,199,508 (GRCm39)	missense	probably benign
R2893:Cdk5rap2	UTSW	4	70,208,110 (GRCm39)	missense	probably benign
R2894:Cdk5rap2	UTSW	4	70,208,110 (GRCm39)	missense	probably benign
R2958:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R2959:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R2961:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R2962:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R2963:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R3522:Cdk5rap2	UTSW	4	70,168,647 (GRCm39)	missense	probably damaging	1.00
R3725:Cdk5rap2	UTSW	4	70,153,674 (GRCm39)	missense	possibly damaging	0.89
R3726:Cdk5rap2	UTSW	4	70,153,674 (GRCm39)	missense	possibly damaging	0.89
R3876:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R3919:Cdk5rap2	UTSW	4	70,298,460 (GRCm39)	missense	possibly damaging	0.50
R4025:Cdk5rap2	UTSW	4	70,168,624 (GRCm39)	missense	probably damaging	0.98
R4324:Cdk5rap2	UTSW	4	70,271,851 (GRCm39)	missense	probably damaging	1.00
R4485:Cdk5rap2	UTSW	4	70,157,520 (GRCm39)	critical splice donor site	probably null
R4516:Cdk5rap2	UTSW	4	70,194,952 (GRCm39)	splice site	probably null
R4556:Cdk5rap2	UTSW	4	70,157,549 (GRCm39)	missense	probably damaging	0.97
R4560:Cdk5rap2	UTSW	4	70,233,568 (GRCm39)	missense	probably benign	0.03
R4584:Cdk5rap2	UTSW	4	70,184,997 (GRCm39)	missense	probably damaging	1.00
R4620:Cdk5rap2	UTSW	4	70,184,943 (GRCm39)	missense	probably benign	0.00
R4639:Cdk5rap2	UTSW	4	70,220,413 (GRCm39)	missense	probably damaging	0.97
R4755:Cdk5rap2	UTSW	4	70,156,662 (GRCm39)	missense	probably damaging	1.00
R4947:Cdk5rap2	UTSW	4	70,146,829 (GRCm39)	splice site	probably null
R5116:Cdk5rap2	UTSW	4	70,225,475 (GRCm39)	missense	possibly damaging	0.67
R5449:Cdk5rap2	UTSW	4	70,194,888 (GRCm39)	missense	probably benign	0.00
R5643:Cdk5rap2	UTSW	4	70,184,970 (GRCm39)	missense	probably damaging	0.99
R5899:Cdk5rap2	UTSW	4	70,161,830 (GRCm39)	splice site	probably benign
R6177:Cdk5rap2	UTSW	4	70,199,719 (GRCm39)	missense	probably damaging	0.99
R6254:Cdk5rap2	UTSW	4	70,282,269 (GRCm39)	missense	probably damaging	1.00
R6326:Cdk5rap2	UTSW	4	70,153,691 (GRCm39)	missense	probably damaging	1.00
R6335:Cdk5rap2	UTSW	4	70,184,849 (GRCm39)	missense	possibly damaging	0.79
R6534:Cdk5rap2	UTSW	4	70,273,050 (GRCm39)	missense	probably damaging	0.98
R6857:Cdk5rap2	UTSW	4	70,163,633 (GRCm39)	nonsense	probably null
R6959:Cdk5rap2	UTSW	4	70,278,906 (GRCm39)	splice site	probably null
R7104:Cdk5rap2	UTSW	4	70,267,393 (GRCm39)	missense	probably benign	0.00
R7145:Cdk5rap2	UTSW	4	70,156,468 (GRCm39)	missense	probably benign	0.13
R7223:Cdk5rap2	UTSW	4	70,153,684 (GRCm39)	missense	probably benign	0.02
R7234:Cdk5rap2	UTSW	4	70,295,024 (GRCm39)	splice site	probably null
R7240:Cdk5rap2	UTSW	4	70,210,145 (GRCm39)	missense	probably damaging	1.00
R7247:Cdk5rap2	UTSW	4	70,255,666 (GRCm39)	missense	probably damaging	1.00
R7382:Cdk5rap2	UTSW	4	70,208,262 (GRCm39)	missense	probably benign	0.19
R7413:Cdk5rap2	UTSW	4	70,172,972 (GRCm39)	missense	probably damaging	1.00
R7576:Cdk5rap2	UTSW	4	70,185,109 (GRCm39)	missense	probably benign	0.01
R8236:Cdk5rap2	UTSW	4	70,160,722 (GRCm39)	missense	probably benign
R8434:Cdk5rap2	UTSW	4	70,282,257 (GRCm39)	missense	probably benign	0.00
R8688:Cdk5rap2	UTSW	4	70,298,510 (GRCm39)	missense	probably damaging	1.00
R8706:Cdk5rap2	UTSW	4	70,157,562 (GRCm39)	missense	probably benign	0.08
R8731:Cdk5rap2	UTSW	4	70,163,747 (GRCm39)	splice site	probably benign
R8782:Cdk5rap2	UTSW	4	70,161,712 (GRCm39)	missense	possibly damaging	0.57
R8855:Cdk5rap2	UTSW	4	70,218,887 (GRCm39)	missense	probably damaging	1.00
R8965:Cdk5rap2	UTSW	4	70,185,042 (GRCm39)	missense	probably benign	0.30
R9242:Cdk5rap2	UTSW	4	70,255,583 (GRCm39)	missense	possibly damaging	0.46
R9308:Cdk5rap2	UTSW	4	70,328,504 (GRCm39)	start codon destroyed	probably null	0.99
R9396:Cdk5rap2	UTSW	4	70,182,895 (GRCm39)	missense	probably damaging	0.97
R9396:Cdk5rap2	UTSW	4	70,172,903 (GRCm39)	missense	possibly damaging	0.75
R9507:Cdk5rap2	UTSW	4	70,210,110 (GRCm39)	missense	probably benign
Z1176:Cdk5rap2	UTSW	4	70,184,980 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16