Mutagenetix > Incidental Mutation

Incidental Mutation 'R7382:Cdk5rap2'

572784

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

2900018K03Rik, an

MMRRC Submission

Accession Numbers

Genbank: NM_145990.3

Essential gene?

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

Stock #

R7382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70216856-70410443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70290025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 728 (M728K)

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
AA Change: M728K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: M728K

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

0.1224

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 79,067,269	H404Q	probably damaging	Het
Adam8	T	A	7: 139,990,107	T82S	possibly damaging	Het
Adgrl2	T	G	3: 148,817,283	Q435P		Het
Ahr	A	T	12: 35,504,515	M535K	probably damaging	Het
Akap6	A	G	12: 53,142,171	I2123V	probably benign	Het
Ankrd2	G	T	19: 42,044,972	G318C		Het
Ap4e1	T	A	2: 127,008,902		probably null	Het
Atp8a2	G	A	14: 59,654,594	P1102S	probably benign	Het
Cacna2d4	C	T	6: 119,239,087	S105F	probably damaging	Het
Cad	C	A	5: 31,075,829	P1872T	probably benign	Het
Catsperg1	A	G	7: 29,204,844	F251L	probably benign	Het
Ccdc129	G	T	6: 55,978,419	G1004V	probably benign	Het
Ccdc18	C	A	5: 108,139,007	Q136K	probably damaging	Het
Cd163	A	G	6: 124,311,312		probably null	Het
Cd209d	A	T	8: 3,877,965	Y46*	probably null	Het
Cdon	A	G	9: 35,478,648	D866G	probably damaging	Het
Cenpl	A	G	1: 161,078,461	H135R	probably benign	Het
Clstn2	A	T	9: 97,799,398	L63*	probably null	Het
Cpeb4	A	G	11: 31,872,828	T181A	probably damaging	Het
Dlgap1	A	G	17: 70,787,174	E830G	probably damaging	Het
Endou	T	A	15: 97,718,926	K239*	probably null	Het
Ezh2	T	C	6: 47,551,836	N263S	possibly damaging	Het
Fbxw2	T	C	2: 34,807,302	D351G	probably benign	Het
Fer1l4	A	T	2: 156,020,749	Y1720*	probably null	Het
Fmo9	A	T	1: 166,663,660		probably null	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Frmpd1	T	A	4: 45,278,880	V535E	probably benign	Het
Fxr2	T	C	11: 69,641,556	V139A	probably benign	Het
Gm5538	T	A	3: 59,743,616	M53K	probably benign	Het
Gpr180	T	G	14: 118,162,623	V401G	possibly damaging	Het
Heatr5b	G	T	17: 78,803,507	R971S	possibly damaging	Het
Igkv8-34	C	A	6: 70,044,119	A120S	probably benign	Het
Inpp5b	T	A	4: 124,751,577	H219Q	probably benign	Het
Kremen2	T	C	17: 23,743,552		probably null	Het
Mael	G	A	1: 166,201,598	P419S	probably benign	Het
Map1a	A	G	2: 121,290,785	T102A	probably damaging	Het
Mfsd2a	A	T	4: 122,952,123	I119N	possibly damaging	Het
Muc5b	T	C	7: 141,858,948	V1877A	unknown	Het
Myo5c	A	C	9: 75,304,050	S1733R	probably damaging	Het
Nelfcd	T	C	2: 174,423,383	V248A	probably benign	Het
Npc1	A	T	18: 12,201,706	I663N	probably damaging	Het
Olfr1089	T	C	2: 86,732,785	I276V	probably benign	Het
Olfr346	G	T	2: 36,688,034	E11*	probably null	Het
Olig3	T	A	10: 19,356,665	S13T	unknown	Het
Piezo2	A	C	18: 63,017,519		probably null	Het
Pkd1l2	G	T	8: 117,054,871	L812M	possibly damaging	Het
Plcd1	G	A	9: 119,074,691	T387I	probably damaging	Het
Ppara	C	T	15: 85,787,228	S110L	probably damaging	Het
Ranbp9	C	T	13: 43,425,114	R161Q	probably damaging	Het
Rufy2	G	T	10: 62,997,969	R270L	probably benign	Het
Sept12	C	T	16: 4,988,482	E272K	probably damaging	Het
Sgms1	T	C	19: 32,159,782	E128G	possibly damaging	Het
Sh3bgr	G	A	16: 96,205,893	S21N	probably benign	Het
Sil1	A	T	18: 35,325,413	D176E	probably benign	Het
Slc13a2	A	T	11: 78,404,795	Y82N	probably damaging	Het
Slc41a1	C	T	1: 131,846,632	P479L	probably damaging	Het
Smarca4	A	G	9: 21,658,933	K744R	probably damaging	Het
Stxbp1	T	C	2: 32,798,168	D495G	probably damaging	Het
Sugp2	T	C	8: 70,242,844	S156P	probably benign	Het
Syt3	A	T	7: 44,392,746	D343V	probably damaging	Het
Tbl3	G	T	17: 24,705,291	T164N	probably benign	Het
Tbpl2	A	T	2: 24,087,314		probably null	Het
Tcf7l2	T	A	19: 55,926,740	W461R	unknown	Het
Tmprss11c	A	T	5: 86,231,864	F395Y	probably benign	Het
Tnc	A	T	4: 64,014,043	Y711*	probably null	Het
Tnpo2	G	A	8: 85,050,119	R485H	probably damaging	Het
Ttc41	A	G	10: 86,776,510	K1216E	probably damaging	Het
Ube2q2	A	C	9: 55,163,014	D80A	probably damaging	Het
Ube2u	A	T	4: 100,532,182	K227*	probably null	Het
Uhrf2	T	C	19: 30,071,388	Y265H	possibly damaging	Het
Vmn1r208	T	G	13: 22,772,586	Y247S	probably damaging	Het
Vmn2r27	A	G	6: 124,197,317	C525R	probably damaging	Het
Vps13a	T	C	19: 16,619,485	T3090A	probably damaging	Het
Whrn	T	C	4: 63,418,336	K674R	probably benign	Het
Zfp202	G	T	9: 40,211,505	R521I	probably damaging	Het
Zfp433	T	C	10: 81,720,825	V387A	probably benign	Het
Zpld1	T	C	16: 55,246,683		probably null	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
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
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'- AGTATGTTCGCTCCTCAAACGAG -3'
(R):5'- GCATCCTGCCTTACCATCAG -3'

Sequencing Primer
(F):5'- TAAAGAGGTGTCTGGGCCC -3'
(R):5'- CATCAGTGGACTTGCTGGC -3'

Posted On

2019-09-13