Mutagenetix > Incidental Mutation

Incidental Mutation 'R4947:Cdk5rap2'

383482

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

2900018K03Rik, an

MMRRC Submission

042544-MU

Accession Numbers

Genbank: NM_145990.3

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R4947 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

70216856-70410443 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 70228592 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.4%

Validation Efficiency

100% (88/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,357,614	H119L	probably damaging	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Adamtsl1	A	T	4: 85,764,800	Q36L	possibly damaging	Het
Als2cr12	T	A	1: 58,676,539	T173S	probably benign	Het
BC117090	T	C	16: 36,321,765	Y83C	probably damaging	Het
Bcl2a1a	G	A	9: 88,957,282	E78K	probably damaging	Het
C130026I21Rik	G	A	1: 85,112,482	A124V	probably damaging	Het
Copg1	C	A	6: 87,903,473		probably benign	Het
Crb2	C	T	2: 37,795,331		probably benign	Het
Ctbp2	C	A	7: 132,999,283	G584C	probably damaging	Het
Cyp11b2	T	C	15: 74,851,570	N415S	possibly damaging	Het
D630003M21Rik	T	A	2: 158,186,196	T1095S	unknown	Het
D630045J12Rik	C	T	6: 38,148,543	R1512H	probably damaging	Het
Dnah5	T	A	15: 28,272,372	V1078E	probably benign	Het
Donson	A	T	16: 91,682,551	D366E	probably damaging	Het
Evpl	T	C	11: 116,223,375	E1163G	possibly damaging	Het
Fcgbp	A	G	7: 28,089,812	K601R	probably benign	Het
Fez1	A	C	9: 36,868,875	I323L	probably damaging	Het
Fmnl2	T	G	2: 53,073,710	S285A	probably benign	Het
Frem1	A	G	4: 82,966,134	S1194P	probably damaging	Het
Gm10754	A	T	10: 97,682,148		probably benign	Het
Gm14226	A	T	2: 155,024,959	T279S	probably benign	Het
Gm16332	G	A	1: 139,865,992		noncoding transcript	Het
Gm21718	T	A	14: 51,315,959		noncoding transcript	Het
Gm9866	A	T	12: 27,160,228		noncoding transcript	Het
Gm9871	A	G	6: 101,796,773		noncoding transcript	Het
Grm1	A	G	10: 10,782,633	F371S	probably damaging	Het
Gtdc1	T	C	2: 44,591,956	I128V	probably null	Het
H2-Q3	T	A	17: 35,359,732		noncoding transcript	Het
Ibtk	T	C	9: 85,710,412	T998A	probably benign	Het
Ifi204	A	G	1: 173,755,750	S301P	probably damaging	Het
Kcnn1	C	A	8: 70,844,429	A545S	probably benign	Het
Keap1	T	G	9: 21,237,553	S53R	probably benign	Het
Lat	A	G	7: 126,367,938	V138A	probably benign	Het
Lrpprc	A	T	17: 84,771,538	N249K	probably benign	Het
Lrrc40	A	G	3: 158,063,835	I557V	probably benign	Het
Maml3	A	G	3: 51,856,539	F335L	probably benign	Het
Mcmbp	A	T	7: 128,712,696	D265E	probably damaging	Het
Me3	A	G	7: 89,633,014	H35R	probably benign	Het
Mif4gd	C	A	11: 115,609,637	V32L	probably benign	Het
Mlana	T	C	19: 29,700,151	S18P	probably damaging	Het
Mpnd	T	A	17: 56,010,268		probably benign	Het
Ms4a4b	T	C	19: 11,454,737	V74A	probably benign	Het
Mta2	T	C	19: 8,946,291	F133L	possibly damaging	Het
Myo5a	A	G	9: 75,123,048	M150V	probably damaging	Het
Nbr1	T	C	11: 101,575,077	V487A	probably benign	Het
Nos3	G	A	5: 24,377,855	C660Y	probably damaging	Het
Ocln	T	C	13: 100,539,715	D90G	probably damaging	Het
Olfr109	T	C	17: 37,466,743	V179A	probably damaging	Het
Olfr186	A	G	16: 59,027,445	L154P	probably damaging	Het
Olfr376	C	T	11: 73,375,417	R223*	probably null	Het
Olfr669	A	G	7: 104,938,742	D72G	possibly damaging	Het
Pcdh7	A	G	5: 57,721,916	K938E	probably damaging	Het
Pcgf3	T	C	5: 108,487,961	F166L	probably benign	Het
Pid1	A	T	1: 84,038,260	V128E	possibly damaging	Het
Polr3a	A	C	14: 24,482,464	D187E	probably benign	Het
Prokr2	T	C	2: 132,373,653	D135G	probably damaging	Het
Rnf141	T	C	7: 110,825,320	T14A	possibly damaging	Het
Serinc1	T	C	10: 57,523,045	E254G	probably damaging	Het
Skint11	T	C	4: 114,191,510	F11L	possibly damaging	Het
Slc22a28	T	C	19: 8,131,452	T109A	probably benign	Het
Sntg1	C	A	1: 8,782,798	V43L	probably damaging	Het
Strn	T	C	17: 78,661,779	D398G	probably damaging	Het
Tacc2	A	T	7: 130,625,899	E1438V	probably damaging	Het
Tas2r139	A	G	6: 42,141,566	T211A	possibly damaging	Het
Tbkbp1	T	C	11: 97,138,944		probably benign	Het
Thbs3	T	C	3: 89,226,431	Y897H	probably damaging	Het
Timm50	G	T	7: 28,310,044		probably benign	Het
Tmem132a	T	C	19: 10,866,934	Q100R	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Unc93b1	C	A	19: 3,935,871	T90K	probably benign	Het
Upk3bl	T	C	5: 136,057,245		probably benign	Het
Vmn2r112	T	A	17: 22,602,879	H179Q	probably benign	Het
Vmn2r57	A	T	7: 41,400,495	F610Y	probably damaging	Het
Vmn2r80	T	G	10: 79,194,698	L786R	probably damaging	Het
Zc3h14	A	G	12: 98,759,824	T323A	probably benign	Het
Zfp532	T	C	18: 65,625,066	I690T	possibly damaging	Het
Zfp729b	T	C	13: 67,596,672	N47S	probably damaging	Het

Other mutations in Cdk5rap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Cdk5rap2	APN	4	70403472	critical splice donor site	probably null
IGL01305:Cdk5rap2	APN	4	70380235	missense	possibly damaging	0.52
IGL01987:Cdk5rap2	APN	4	70302082	critical splice donor site	probably null
IGL02213:Cdk5rap2	APN	4	70317602	splice site	probably benign
IGL02732:Cdk5rap2	APN	4	70266665	nonsense	probably null
IGL03063:Cdk5rap2	APN	4	70354877	critical splice acceptor site	probably null
IGL03244:Cdk5rap2	APN	4	70281435	missense	probably benign	0.19
ANU22:Cdk5rap2	UTSW	4	70380235	missense	possibly damaging	0.52
F5426:Cdk5rap2	UTSW	4	70254803	missense	probably benign
R0010:Cdk5rap2	UTSW	4	70243459	missense	probably benign	0.01
R0010:Cdk5rap2	UTSW	4	70243459	missense	probably benign	0.01
R0044:Cdk5rap2	UTSW	4	70360901	missense	probably damaging	1.00
R0044:Cdk5rap2	UTSW	4	70360901	missense	probably damaging	1.00
R0482:Cdk5rap2	UTSW	4	70410269	start gained	probably benign
R0548:Cdk5rap2	UTSW	4	70349142	critical splice donor site	probably null
R0594:Cdk5rap2	UTSW	4	70354813	missense	probably damaging	0.98
R0737:Cdk5rap2	UTSW	4	70337375	missense	probably benign	0.01
R0788:Cdk5rap2	UTSW	4	70307231	missense	possibly damaging	0.90
R0960:Cdk5rap2	UTSW	4	70243508	missense	probably benign	0.03
R1682:Cdk5rap2	UTSW	4	70302150	missense	possibly damaging	0.92
R1727:Cdk5rap2	UTSW	4	70272679	missense	probably benign
R1727:Cdk5rap2	UTSW	4	70289972	missense	possibly damaging	0.70
R1768:Cdk5rap2	UTSW	4	70307233	missense	probably benign	0.09
R1903:Cdk5rap2	UTSW	4	70403554	splice site	probably null
R2270:Cdk5rap2	UTSW	4	70266678	missense	probably benign	0.01
R2271:Cdk5rap2	UTSW	4	70266678	missense	probably benign	0.01
R2272:Cdk5rap2	UTSW	4	70266678	missense	probably benign	0.01
R2364:Cdk5rap2	UTSW	4	70360809	critical splice donor site	probably null
R2763:Cdk5rap2	UTSW	4	70281271	missense	probably benign
R2893:Cdk5rap2	UTSW	4	70289873	missense	probably benign
R2894:Cdk5rap2	UTSW	4	70289873	missense	probably benign
R2958:Cdk5rap2	UTSW	4	70289977	frame shift	probably null
R2959:Cdk5rap2	UTSW	4	70289977	frame shift	probably null
R2961:Cdk5rap2	UTSW	4	70289977	frame shift	probably null
R2962:Cdk5rap2	UTSW	4	70289977	frame shift	probably null
R2963:Cdk5rap2	UTSW	4	70289977	frame shift	probably null
R3522:Cdk5rap2	UTSW	4	70250410	missense	probably damaging	1.00
R3725:Cdk5rap2	UTSW	4	70235437	missense	possibly damaging	0.89
R3726:Cdk5rap2	UTSW	4	70235437	missense	possibly damaging	0.89
R3876:Cdk5rap2	UTSW	4	70289977	frame shift	probably null
R3919:Cdk5rap2	UTSW	4	70380223	missense	possibly damaging	0.50
R4025:Cdk5rap2	UTSW	4	70250387	missense	probably damaging	0.98
R4324:Cdk5rap2	UTSW	4	70353614	missense	probably damaging	1.00
R4485:Cdk5rap2	UTSW	4	70239283	critical splice donor site	probably null
R4516:Cdk5rap2	UTSW	4	70276715	splice site	probably null
R4556:Cdk5rap2	UTSW	4	70239312	missense	probably damaging	0.97
R4560:Cdk5rap2	UTSW	4	70315331	missense	probably benign	0.03
R4584:Cdk5rap2	UTSW	4	70266760	missense	probably damaging	1.00
R4620:Cdk5rap2	UTSW	4	70266706	missense	probably benign	0.00
R4639:Cdk5rap2	UTSW	4	70302176	missense	probably damaging	0.97
R4755:Cdk5rap2	UTSW	4	70238425	missense	probably damaging	1.00
R5116:Cdk5rap2	UTSW	4	70307238	missense	possibly damaging	0.67
R5449:Cdk5rap2	UTSW	4	70276651	missense	probably benign	0.00
R5643:Cdk5rap2	UTSW	4	70266733	missense	probably damaging	0.99
R5899:Cdk5rap2	UTSW	4	70243593	splice site	probably benign
R6177:Cdk5rap2	UTSW	4	70281482	missense	probably damaging	0.99
R6254:Cdk5rap2	UTSW	4	70364032	missense	probably damaging	1.00
R6326:Cdk5rap2	UTSW	4	70235454	missense	probably damaging	1.00
R6335:Cdk5rap2	UTSW	4	70266612	missense	possibly damaging	0.79
R6534:Cdk5rap2	UTSW	4	70354813	missense	probably damaging	0.98
R6857:Cdk5rap2	UTSW	4	70245396	nonsense	probably null
R6959:Cdk5rap2	UTSW	4	70360669	splice site	probably null
R7104:Cdk5rap2	UTSW	4	70349156	missense	probably benign	0.00
R7145:Cdk5rap2	UTSW	4	70238231	missense	probably benign	0.13
R7223:Cdk5rap2	UTSW	4	70235447	missense	probably benign	0.02
R7234:Cdk5rap2	UTSW	4	70376787	splice site	probably null
R7240:Cdk5rap2	UTSW	4	70291908	missense	probably damaging	1.00
R7247:Cdk5rap2	UTSW	4	70337429	missense	probably damaging	1.00
R7382:Cdk5rap2	UTSW	4	70290025	missense	probably benign	0.19
R7413:Cdk5rap2	UTSW	4	70254735	missense	probably damaging	1.00
R7576:Cdk5rap2	UTSW	4	70266872	missense	probably benign	0.01
R8236:Cdk5rap2	UTSW	4	70242485	missense	probably benign
R8434:Cdk5rap2	UTSW	4	70364020	missense	probably benign	0.00
R8688:Cdk5rap2	UTSW	4	70380273	missense	probably damaging	1.00
R8706:Cdk5rap2	UTSW	4	70239325	missense	probably benign	0.08
R8731:Cdk5rap2	UTSW	4	70245510	splice site	probably benign
R8782:Cdk5rap2	UTSW	4	70243475	missense	possibly damaging	0.57
R8855:Cdk5rap2	UTSW	4	70300650	missense	probably damaging	1.00
R8965:Cdk5rap2	UTSW	4	70266805	missense	probably benign	0.30
R9242:Cdk5rap2	UTSW	4	70337346	missense	possibly damaging	0.46
R9308:Cdk5rap2	UTSW	4	70410267	start codon destroyed	probably null	0.99
R9396:Cdk5rap2	UTSW	4	70254666	missense	possibly damaging	0.75
R9396:Cdk5rap2	UTSW	4	70264658	missense	probably damaging	0.97
R9507:Cdk5rap2	UTSW	4	70291873	missense	probably benign
Z1176:Cdk5rap2	UTSW	4	70266743	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTCCTGCCAGAATTGACTGTG -3'
(R):5'- GCTAGTGAGGTTGAGTTGAACATC -3'

Sequencing Primer
(F):5'- CCAGAATTGACTGTGTGTTGAAAAG -3'
(R):5'- AGTGAGGTTGAGTTGAACATCTTTTG -3'

Posted On

2016-04-27