Mutagenetix > Incidental Mutation

Incidental Mutation 'R0594:Cdk5rap2'

216244

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

2900018K03Rik, an

MMRRC Submission

038784-MU

Accession Numbers

Genbank: NM_145990.3

Essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

R0594 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70216856-70410443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70354813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 241 (E241G)

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 damaging
Transcript: ENSMUST00000144099
AA Change: E241G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: E241G

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

0.0793

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

99% (119/120)

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,389,880	V41A	probably benign	Het
Acad11	A	G	9: 104,095,563	Q367R	probably benign	Het
Ackr4	A	G	9: 104,099,004	V248A	possibly damaging	Het
Adamts14	T	C	10: 61,202,887	E945G	probably damaging	Het
Akap2	A	G	4: 57,856,752	T694A	probably benign	Het
Ano2	A	G	6: 125,982,765	M663V	probably damaging	Het
Apc2	T	A	10: 80,306,256	C336*	probably null	Het
Arhgap17	A	G	7: 123,294,518	S560P	probably benign	Het
Arl5a	T	C	2: 52,405,014	D128G	probably damaging	Het
Atp6v0a2	C	A	5: 124,717,982	R678S	probably benign	Het
B4galnt2	C	A	11: 95,891,909	A26S	probably benign	Het
C1qtnf1	A	T	11: 118,446,628	T95S	possibly damaging	Het
Ccdc188	T	A	16: 18,218,920	F241L	probably benign	Het
Cdh19	A	T	1: 110,925,867	D281E	probably benign	Het
Cherp	A	T	8: 72,462,402		probably null	Het
Cpne9	T	A	6: 113,290,400		probably benign	Het
Cthrc1	A	T	15: 39,077,142	R47W	possibly damaging	Het
Dcaf13	A	G	15: 39,123,268	E145G	probably benign	Het
Dcaf4	T	A	12: 83,538,043		probably null	Het
Dgka	A	C	10: 128,733,110		probably benign	Het
Dhrs13	T	A	11: 78,034,525	F157L	probably damaging	Het
Dnajb5	A	T	4: 42,956,577	Y88F	probably damaging	Het
Dpp8	A	G	9: 65,036,998	T16A	probably damaging	Het
Dscc1	A	T	15: 55,089,052	I91K	possibly damaging	Het
Efemp2	T	A	19: 5,475,063		probably benign	Het
Elf2	T	C	3: 51,256,453	T504A	possibly damaging	Het
Elk3	G	A	10: 93,265,160	S243F	probably damaging	Het
Ell2	A	G	13: 75,749,993	D93G	probably damaging	Het
Eln	G	T	5: 134,712,398		probably benign	Het
Eme1	C	T	11: 94,650,430	D189N	possibly damaging	Het
Epb41l2	A	G	10: 25,443,770	E167G	possibly damaging	Het
Exoc5	A	T	14: 49,036,087		probably benign	Het
Fam129c	C	A	8: 71,599,135	A38E	probably benign	Het
Fam170b	A	G	14: 32,836,314	K369E	unknown	Het
Fam187b	T	A	7: 30,977,154	C29*	probably null	Het
Fam20c	T	C	5: 138,766,637	S260P	possibly damaging	Het
Fam216b	G	A	14: 78,086,674	A21V	possibly damaging	Het
Fam98a	A	T	17: 75,538,487	Y421*	probably null	Het
Farp2	T	C	1: 93,576,500	V333A	probably damaging	Het
Fcgr1	T	C	3: 96,292,312	Y93C	probably damaging	Het
Fgd2	A	T	17: 29,365,552	I157F	probably damaging	Het
Frmd4b	T	A	6: 97,325,426		probably benign	Het
Fut9	T	C	4: 25,620,526	D96G	possibly damaging	Het
Glt8d1	G	A	14: 31,010,410		probably null	Het
Gm7579	T	A	7: 142,212,384	C176S	unknown	Het
Gmpr2	A	G	14: 55,677,988	E272G	probably damaging	Het
Grin2b	T	C	6: 135,733,929	H873R	probably damaging	Het
Gtf2i	C	T	5: 134,242,173		probably benign	Het
Htr3b	A	T	9: 48,947,631	V69E	probably benign	Het
Icam5	A	G	9: 21,035,598	N474S	probably benign	Het
Itgal	T	A	7: 127,314,060	S610T	probably damaging	Het
Jag1	T	A	2: 137,087,080	I819L	probably damaging	Het
Kif9	A	T	9: 110,511,340	E467V	probably benign	Het
Krit1	T	C	5: 3,823,694	L491P	possibly damaging	Het
Lipo2	T	G	19: 33,746,902	I155L	possibly damaging	Het
Lmbr1	A	G	5: 29,292,209	F65L	possibly damaging	Het
Lsp1	G	A	7: 142,488,950		probably benign	Het
Marc2	T	C	1: 184,841,339	N121D	probably benign	Het
Mgat5	T	A	1: 127,412,248	D455E	probably damaging	Het
Mical2	A	T	7: 112,318,450	Y338F	probably damaging	Het
Mkl1	G	A	15: 81,017,174	T372I	probably damaging	Het
Mre11a	T	G	9: 14,815,209	S396A	probably benign	Het
Myo3a	C	T	2: 22,544,332		probably benign	Het
Naca	T	C	10: 128,040,355		probably benign	Het
Nav1	A	T	1: 135,467,643	I996K	possibly damaging	Het
Ncbp1	A	G	4: 46,170,551	N742S	probably benign	Het
Ndufaf3	G	A	9: 108,566,923	A2V	probably benign	Het
Ntn5	G	T	7: 45,686,681	A47S	probably damaging	Het
Olfr1122	T	A	2: 87,387,954	I83N	probably damaging	Het
Olfr13	T	A	6: 43,174,607	V207E	possibly damaging	Het
Olfr1502	G	T	19: 13,862,279	C162F	probably benign	Het
Olfr384	G	A	11: 73,603,392	E271K	probably benign	Het
Olfr392	T	C	11: 73,814,617	H155R	probably benign	Het
Olfr777	T	C	10: 129,269,152	Y57C	possibly damaging	Het
Otud7a	T	A	7: 63,727,472	L203*	probably null	Het
Pcdhb13	A	G	18: 37,443,931	Y454C	probably damaging	Het
Pdzph1	C	T	17: 58,954,479	V853M	possibly damaging	Het
Plec	A	G	15: 76,172,253	S4517P	probably damaging	Het
Pm20d2	C	T	4: 33,181,746	E286K	probably damaging	Het
Polr2i	T	A	7: 30,232,745		probably null	Het
Ppp1r12b	A	G	1: 134,776,479	L879P	probably damaging	Het
Prf1	C	A	10: 61,303,722	Y486*	probably null	Het
Qsox2	T	G	2: 26,214,044	T325P	probably damaging	Het
Rab1b	G	T	19: 5,100,656		probably benign	Het
Rbm19	T	C	5: 120,128,316		probably null	Het
Rhobtb2	A	G	14: 69,793,948	V576A	probably benign	Het
Rnps1	G	A	17: 24,424,437	V215M	probably damaging	Het
Rps11	A	G	7: 45,124,282		probably benign	Het
Serpinb3d	C	T	1: 107,079,347	M210I	probably damaging	Het
Sgsm1	T	C	5: 113,310,562	T17A	probably benign	Het
Slc6a3	A	G	13: 73,538,642	T43A	probably damaging	Het
Sox4	C	G	13: 28,952,904	A40P	probably damaging	Het
Spry2	A	T	14: 105,893,310	D147E	possibly damaging	Het
Stpg1	A	G	4: 135,519,431	N157D	possibly damaging	Het
Sumf1	T	C	6: 108,173,414	D152G	probably benign	Het
Tbr1	T	C	2: 61,811,620	S410P	possibly damaging	Het
Tdrd6	A	G	17: 43,629,383	V258A	probably damaging	Het
Tirap	C	T	9: 35,188,761	G209D	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,861	V134D	probably damaging	Het
Tnr	A	G	1: 159,850,335	T97A	probably benign	Het
Tspan32	T	A	7: 143,015,610	F135L	probably damaging	Het
Ttn	T	C	2: 76,789,056	K16021E	probably damaging	Het
Tusc3	T	A	8: 39,096,968	I251N	probably damaging	Het
Usp38	A	T	8: 81,005,366	I305N	probably damaging	Het
Usp4	T	A	9: 108,370,881		probably null	Het
Usp5	A	T	6: 124,817,424	D764E	probably damaging	Het
Vangl2	A	T	1: 172,004,657	V544E	probably damaging	Het
Vldlr	G	A	19: 27,234,819	V78M	probably damaging	Het
Vmn1r29	T	C	6: 58,307,772	V159A	probably benign	Het
Vmn2r16	T	A	5: 109,363,896	F656L	probably damaging	Het
Wdfy3	T	A	5: 101,906,185	I1590F	possibly damaging	Het
Xpo1	T	A	11: 23,280,402	V263E	probably damaging	Het
Zbtb38	A	G	9: 96,685,954	S1026P	probably damaging	Het
Zfp407	A	T	18: 84,562,567	D140E	possibly damaging	Het
Zfp637	T	A	6: 117,845,686	Y258*	probably null	Het
Zfp951	T	A	5: 104,814,572	Q376L	possibly 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
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
R4947:Cdk5rap2	UTSW	4	70228592	splice site	probably null
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'- GCGGACAAGTTACTGTGCAAACC -3'
(R):5'- AAATCCCTGGGCAAGGCTAGAGAC -3'

Sequencing Primer
(F):5'- CACGCAGCACGCTGAAG -3'
(R):5'- AATGTCACATCAATTCTGTTCCTTG -3'

Posted On

2014-07-31