Mutagenetix > Incidental Mutation

Incidental Mutation 'R5643:Cdk5rap2'

440830

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

2900018K03Rik, an

MMRRC Submission

043291-MU

Accession Numbers

Genbank: NM_145990.3

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R5643 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70216856-70410443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70266733 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1160 (D1160V)

Ref Sequence

ENSEMBL: ENSMUSP00000119891 (fasta)

Gene Model

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

AlphaFold

Q8K389

Predicted Effect

probably benign
Transcript: ENSMUST00000076541

Predicted Effect

probably benign
Transcript: ENSMUST00000138561

SMART Domains

Protein: ENSMUSP00000116928
Gene: ENSMUSG00000039298

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 damaging
Transcript: ENSMUST00000144099
AA Change: D1160V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: D1160V

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

0.4848

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (110/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 9,010,657	K3102E	possibly damaging	Het
Akap13	T	C	7: 75,702,154		probably null	Het
Akp3	A	T	1: 87,127,763	T511S	unknown	Het
Alkal2	T	A	12: 30,884,890	L36Q	probably damaging	Het
Arhgef17	A	T	7: 100,880,011	V523E	probably damaging	Het
Asah1	G	T	8: 41,360,295	T27K	possibly damaging	Het
Bag2	A	G	1: 33,746,953	V96A	probably damaging	Het
Bicd1	C	T	6: 149,520,403	A874V	probably damaging	Het
C4b	T	C	17: 34,742,417	I189M	probably benign	Het
Calcr	A	G	6: 3,708,538	I216T	probably damaging	Het
Cep128	A	T	12: 91,348,851	I87K	probably damaging	Het
Cep170b	C	G	12: 112,740,841	H1256Q	probably benign	Het
Chd2	A	T	7: 73,484,484	V705E	probably damaging	Het
Clec12b	T	A	6: 129,379,960	I172L	probably benign	Het
Cobl	A	T	11: 12,306,948		probably benign	Het
Col5a2	T	A	1: 45,390,042	D972V	probably damaging	Het
Csrp1	A	T	1: 135,751,059	N174I	probably damaging	Het
Dnah7a	T	A	1: 53,405,707	H3946L	probably benign	Het
Dnajc21	A	T	15: 10,461,915	D133E	probably benign	Het
Dvl3	T	A	16: 20,526,276	I353N	probably damaging	Het
Elavl3	A	T	9: 22,018,733	S292T	probably benign	Het
Ephb2	T	C	4: 136,771,612	N52S	probably damaging	Het
Gaa	T	A	11: 119,280,535	M671K	possibly damaging	Het
Gabrg3	T	C	7: 56,773,284	D222G	possibly damaging	Het
Gk5	C	T	9: 96,140,656	Q182*	probably null	Het
Gm14403	A	T	2: 177,507,261	H50L	possibly damaging	Het
Gzma	T	C	13: 113,098,260	T66A	probably damaging	Het
Hint2	T	C	4: 43,656,445		probably benign	Het
Hnmt	A	T	2: 24,014,239	W137R	probably damaging	Het
Hoga1	T	C	19: 42,059,963	V90A	probably benign	Het
Idua	A	T	5: 108,680,224		probably benign	Het
Kif1a	A	C	1: 93,055,767	S669R	probably damaging	Het
Klhdc7b	A	T	15: 89,387,659	M915L	possibly damaging	Het
Klhl41	A	G	2: 69,670,471	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,656,457	C186S	probably damaging	Het
Lmo7	A	G	14: 101,929,336		probably benign	Het
Lrriq1	T	C	10: 103,215,440	M484V	probably benign	Het
Lzts1	A	G	8: 69,139,077	S140P	possibly damaging	Het
Mgat5b	T	A	11: 116,973,400	V464E	probably damaging	Het
Mms19	A	T	19: 41,955,866	D298E	possibly damaging	Het
Muc5ac	T	C	7: 141,793,715		probably null	Het
Mycbp2	T	A	14: 103,287,334	K597I	probably damaging	Het
Myo18a	C	A	11: 77,854,687	D1619E	probably benign	Het
Nfx1	T	C	4: 40,984,973	W366R	probably null	Het
Nipbl	C	T	15: 8,358,907	V410I	probably benign	Het
Olfr1037	T	C	2: 86,085,159	N206S	probably damaging	Het
Olfr116	T	A	17: 37,624,432	I68F	probably benign	Het
Olfr1188	T	A	2: 88,559,505	M1K	probably null	Het
Olfr1313	A	T	2: 112,071,668	M305K	probably benign	Het
Olfr1443	A	T	19: 12,680,972	Y288F	probably damaging	Het
Olfr648	T	C	7: 104,179,884	I175V	probably benign	Het
Olfr850	A	T	9: 19,477,557	M231K	probably benign	Het
Otog	A	T	7: 46,287,447	T1527S	probably damaging	Het
P2ry12	A	T	3: 59,218,095	M53K	possibly damaging	Het
Pask	A	G	1: 93,337,343		probably null	Het
Pcca	G	A	14: 122,887,069	C684Y	probably damaging	Het
Pcdhb10	A	G	18: 37,413,166	T432A	possibly damaging	Het
Peak1	T	C	9: 56,258,755	N630D	probably damaging	Het
Plbd2	A	T	5: 120,493,166		probably null	Het
Plekhg5	T	C	4: 152,104,340	V200A	probably benign	Het
Pola2	A	G	19: 5,961,170	V42A	probably benign	Het
Ppfibp2	T	A	7: 107,737,890	W572R	probably damaging	Het
Ppp6r1	C	T	7: 4,633,772	E679K	probably benign	Het
Pramef6	A	T	4: 143,895,767	H339Q	probably damaging	Het
Prdx3	G	A	19: 60,871,525	A70V	probably damaging	Het
Prkd2	T	C	7: 16,843,792	F57L	probably benign	Het
Prodh2	A	G	7: 30,506,746	T324A	possibly damaging	Het
Ptdss1	T	C	13: 66,972,540	F267L	probably damaging	Het
Rai14	T	A	15: 10,593,051	H169L	probably benign	Het
Rere	A	G	4: 150,617,243	H1360R	probably damaging	Het
Rfc3	C	T	5: 151,649,979	V40I	probably benign	Het
Rims1	T	A	1: 22,538,509	T219S	probably damaging	Het
Rnf169	T	C	7: 99,927,131	R289G	possibly damaging	Het
Senp7	T	C	16: 56,184,149		silent	Het
Sfmbt2	A	T	2: 10,568,373	I571F	probably damaging	Het
Slc11a2	C	A	15: 100,403,187	K328N	probably benign	Het
Slc25a10	A	G	11: 120,496,376		probably benign	Het
Slc38a8	T	C	8: 119,480,749	*433W	probably null	Het
Slco1a5	A	C	6: 142,237,594		probably null	Het
Smc6	T	A	12: 11,289,994	N434K	probably benign	Het
Syndig1	A	T	2: 149,899,508	I5F	possibly damaging	Het
Syt5	T	C	7: 4,543,019	Q124R	probably benign	Het
Taok3	A	C	5: 117,206,720	M171L	probably benign	Het
Tbrg1	T	C	9: 37,649,413	D389G	probably benign	Het
Tcaf2	G	A	6: 42,642,773	R107C	possibly damaging	Het
Tex14	C	A	11: 87,535,626	H1159Q	probably damaging	Het
Tmprss11d	T	A	5: 86,326,529	M190L	probably benign	Het
Ttn	T	A	2: 76,938,523	T2856S	probably damaging	Het
Ubr4	T	A	4: 139,444,687	M2997K	probably damaging	Het
Unc5c	C	T	3: 141,678,125	A88V	probably damaging	Het
Use1	T	C	8: 71,367,754		probably benign	Het
Vmn1r43	T	C	6: 89,870,372	N44S	probably damaging	Het
Vmn1r89	T	A	7: 13,220,219	V294D	possibly damaging	Het
Vmn2r11	A	T	5: 109,047,003	V819E	probably damaging	Het
Vmn2r120	T	A	17: 57,524,977	M271L	probably benign	Het
Vmn2r52	T	C	7: 10,171,132	Y260C	probably damaging	Het
Vmn2r67	T	A	7: 85,149,943	R519*	probably null	Het
Vmn2r69	T	A	7: 85,407,196	D578V	probably damaging	Het
Vmn2r85	T	C	10: 130,426,474	Y132C	probably damaging	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp318	T	A	17: 46,409,244		probably benign	Het
Zfp810	A	T	9: 22,283,171	S74T	probably benign	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
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
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'- TCACCGAAAAGTTCCAAGTTCAAG -3'
(R):5'- TCAGCGTGAATGGAACTGAC -3'

Sequencing Primer
(F):5'- AAGTTCCAAGTTCAAGTCCTGC -3'
(R):5'- TGGAACTGACCAGTCTGAGAATATC -3'

Posted On

2016-11-08