Mutagenetix > Incidental Mutation

Incidental Mutation 'R4620:Cdk5rap2'

345224

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

2900018K03Rik, an

MMRRC Submission

042008-MU

Accession Numbers

Genbank: NM_145990.3

Essential gene?

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

Stock #

R4620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70216856-70410443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70266706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1169 (I1169T)

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 benign
Transcript: ENSMUST00000144099
AA Change: I1169T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: I1169T

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

99% (80/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 131,343,606	Y433*	probably null	Het
Apba2	C	T	7: 64,714,467	R331C	probably damaging	Het
Apod	T	C	16: 31,297,393	D173G	probably benign	Het
B3gnt5	A	T	16: 19,769,882	M284L	probably benign	Het
Birc6	A	C	17: 74,640,150	T2955P	probably benign	Het
Blvra	T	C	2: 127,096,965	I287T	probably damaging	Het
Capn5	T	C	7: 98,129,371	Y347C	probably damaging	Het
Cdcp2	A	G	4: 107,106,730	E259G	probably damaging	Het
Cdh2	A	G	18: 16,648,608	V85A	probably benign	Het
Cenpj	A	G	14: 56,535,454	V1043A	probably damaging	Het
Cfap54	T	A	10: 92,969,757	H1497L	probably benign	Het
Chat	A	G	14: 32,453,818	M95T	probably damaging	Het
Csmd1	T	C	8: 16,002,694		probably null	Het
Csmd3	T	C	15: 47,585,753	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,712,562		probably null	Het
Dll1	C	T	17: 15,370,566	A332T	probably benign	Het
Dmrta1	A	T	4: 89,688,784	Q159L	probably benign	Het
Eci3	A	T	13: 34,948,758	M212K	probably damaging	Het
Eml4	T	C	17: 83,461,533	F557L	probably benign	Het
Fat3	A	T	9: 15,996,894	V2604D	probably damaging	Het
Frem3	T	C	8: 80,668,957	V1871A	possibly damaging	Het
Gart	T	C	16: 91,625,433	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,423,098	I463V	probably benign	Het
H2-M3	C	A	17: 37,272,419	T257K	probably damaging	Het
Hdgf	A	G	3: 87,914,576	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,345,773	N226Y	probably damaging	Het
Itgav	T	C	2: 83,755,902	Y169H	probably benign	Het
Kalrn	T	G	16: 34,028,705	I426L	probably damaging	Het
Kcnh3	G	A	15: 99,234,101	V646M	probably damaging	Het
Kif6	T	C	17: 49,901,296	V735A	probably benign	Het
Krt2	T	A	15: 101,817,591	I171F	probably damaging	Het
Megf8	G	A	7: 25,355,098	A1880T	possibly damaging	Het
Miox	A	T	15: 89,336,121	Y172F	probably benign	Het
Myo18a	G	A	11: 77,817,947	R48H	possibly damaging	Het
Ndufb7	T	C	8: 83,566,858	S14P	probably damaging	Het
Npepps	A	T	11: 97,238,244	H371Q	probably damaging	Het
Olfr596	C	T	7: 103,309,958	T79I	probably benign	Het
Olfr672	T	A	7: 104,996,623	I94F	probably damaging	Het
Olfr876	A	G	9: 37,804,819	T303A	probably benign	Het
Olfr976	C	T	9: 39,956,909	V9M	probably damaging	Het
Orc5	A	T	5: 22,529,176	D203E	probably damaging	Het
Pappa	A	G	4: 65,327,028	T1518A	probably benign	Het
Pde6a	A	G	18: 61,262,492	D602G	probably damaging	Het
Pnliprp2	G	A	19: 58,762,286	V136I	possibly damaging	Het
Postn	A	C	3: 54,376,993	D627A	probably damaging	Het
Prpf39	T	C	12: 65,042,563	V25A	probably benign	Het
Pxdc1	A	G	13: 34,652,314	I41T	probably damaging	Het
Rab11fip1	T	A	8: 27,154,215	E514V	probably damaging	Het
Rag1	A	T	2: 101,643,680	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,240,104		probably benign	Het
Rexo5	A	G	7: 119,827,303	I317V	probably benign	Het
Rragc	A	G	4: 123,924,829	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,306,926	S187P	probably damaging	Het
Senp3	T	A	11: 69,677,118	Y432F	probably benign	Het
Slfn5	G	A	11: 82,961,652	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,037,494	A722T	probably benign	Het
Sptb	A	T	12: 76,583,807	C2244*	probably null	Het
Srbd1	A	T	17: 86,109,265	F488L	probably benign	Het
Sucnr1	A	G	3: 60,086,769	I239M	possibly damaging	Het
Themis2	A	G	4: 132,786,022	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,953	N37T	probably benign	Het
Tmem62	A	G	2: 120,996,364		probably benign	Het
Tmprss15	T	C	16: 79,021,470	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,704,396	M75I	probably benign	Het
Trio	T	A	15: 27,871,171	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698	G64E	probably damaging	Het
Usp32	C	A	11: 85,059,127		probably null	Het
Wdfy3	A	T	5: 101,906,145	F1603Y	probably damaging	Het
Wdr63	A	T	3: 146,042,809	L850Q	probably damaging	Het
Xpo4	A	T	14: 57,630,325	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,949,892	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,962,753	Y792*	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
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'- ACCGAAAAGTTCCAAGTTCAAG -3'
(R):5'- CAGCGTGAATGGAACTGACC -3'

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

Posted On

2015-09-25