Mutagenetix > Incidental Mutation

Incidental Mutation 'R1727:Cdk5rap2'

198212

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

2900018K03Rik, an

MMRRC Submission

039759-MU

Accession Numbers

Genbank: NM_145990.3

Essential gene?

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

Stock #

R1727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70216856-70410443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70272679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1043 (D1043G)

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: D1043G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: D1043G

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

96% (98/102)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,428,964		probably benign	Het
Ak2	C	T	4: 129,007,763	P159L	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Akr1a1	A	G	4: 116,641,051	L99P	probably damaging	Het
Anxa8	T	A	14: 34,089,590	M34K	probably damaging	Het
Axl	T	G	7: 25,760,766	D767A	possibly damaging	Het
B430305J03Rik	A	G	3: 61,363,878		probably benign	Het
Cdh24	A	T	14: 54,638,638	Y182*	probably null	Het
Cep120	T	C	18: 53,727,729	M210V	probably benign	Het
Chga	C	T	12: 102,561,437	H117Y	possibly damaging	Het
Cnga4	T	C	7: 105,405,754	W79R	probably damaging	Het
Cntnap5b	C	T	1: 100,213,744	T575I	possibly damaging	Het
Col6a3	T	A	1: 90,796,574		probably null	Het
Copz2	T	C	11: 96,853,475	V71A	probably benign	Het
Dennd3	G	T	15: 73,565,128	R1068L	possibly damaging	Het
Dhrs7	T	C	12: 72,659,464	T56A	probably damaging	Het
Dnah17	G	A	11: 118,070,489	T2557I	probably damaging	Het
Dnah17	A	T	11: 118,096,536	L1320*	probably null	Het
Eif3b	T	C	5: 140,425,322	I176T	probably damaging	Het
Eif4b	T	A	15: 102,090,062	D392E	possibly damaging	Het
Eif4h	T	C	5: 134,639,280	Y7C	probably damaging	Het
Enam	A	T	5: 88,503,994	S1046C	probably damaging	Het
Epg5	T	A	18: 78,015,815	V1928E	possibly damaging	Het
Erbin	T	A	13: 103,827,968	E1222V	probably benign	Het
Fam160b2	C	A	14: 70,593,998	G32V	probably damaging	Het
Fhdc1	T	A	3: 84,446,176	I581F	possibly damaging	Het
Fstl4	A	C	11: 53,068,651	Q173P	probably damaging	Het
Gm266	A	G	12: 111,485,479	F98L	possibly damaging	Het
Gsdmc2	T	C	15: 63,849,779		probably benign	Het
Gtf2h3	A	G	5: 124,590,356	Q156R	probably benign	Het
H2-T23	T	C	17: 36,031,653	T198A	possibly damaging	Het
Il1r1	C	A	1: 40,293,264	A68E	probably benign	Het
Kcna7	A	T	7: 45,409,506	I406F	possibly damaging	Het
Lbr	A	G	1: 181,819,916	I432T	probably benign	Het
Lnx1	A	T	5: 74,607,916		probably null	Het
Lrrcc1	T	A	3: 14,537,363	I50N	probably damaging	Het
Lss	T	C	10: 76,539,844	V237A	possibly damaging	Het
Mcm10	A	G	2: 5,006,525	F212L	probably benign	Het
Methig1	A	C	15: 100,353,249	I14L	probably benign	Het
Mrpl41	A	T	2: 24,974,624	V55E	probably damaging	Het
Mtfp1	C	A	11: 4,093,982	D83Y	probably damaging	Het
Myh1	T	A	11: 67,210,466		probably benign	Het
Myo1e	T	C	9: 70,376,524	F834S	possibly damaging	Het
Ndufs7	A	T	10: 80,256,019		probably benign	Het
Nlrp4e	T	A	7: 23,320,995	N302K	probably benign	Het
Nt5e	T	A	9: 88,328,029	M115K	possibly damaging	Het
Nup153	A	T	13: 46,693,785	C723S	probably damaging	Het
Obox6	G	A	7: 15,834,577	P125S	probably benign	Het
Olfr1104	A	G	2: 87,022,263	F94L	probably damaging	Het
Olfr235	T	G	19: 12,269,001	I257S	possibly damaging	Het
Olfr330	A	T	11: 58,529,516	S157T	possibly damaging	Het
Olfr354	G	A	2: 36,907,393	C149Y	probably benign	Het
Olfr665	C	T	7: 104,881,514	T269I	probably benign	Het
Pcdh1	A	C	18: 38,203,032	Y44*	probably null	Het
Pcdhb6	A	T	18: 37,334,587	D187V	probably damaging	Het
Pclo	A	G	5: 14,676,987		probably benign	Het
Pdcl3	T	A	1: 38,995,755	I80K	possibly damaging	Het
Pde12	A	T	14: 26,668,867	V229E	probably benign	Het
Plcg1	A	G	2: 160,748,088	E142G	probably benign	Het
Plxnb1	A	G	9: 109,101,057		probably null	Het
Pnpla1	A	G	17: 28,878,534	I225V	probably benign	Het
Polr2f	A	G	15: 79,144,605		probably benign	Het
Prob1	A	G	18: 35,654,311	S297P	possibly damaging	Het
Qsox2	A	C	2: 26,220,958	S132A	probably benign	Het
Rab19	T	A	6: 39,388,161	Y118*	probably null	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rptn	T	C	3: 93,397,138	S593P	possibly damaging	Het
Sept11	T	C	5: 93,156,924	I200T	probably damaging	Het
Slc10a4	T	A	5: 73,016,148		probably benign	Het
Slc9c1	A	T	16: 45,601,961	I1130F	probably benign	Het
Slit3	C	T	11: 35,629,832	R599C	probably damaging	Het
Snx19	C	T	9: 30,433,366	P622L	probably damaging	Het
Sspo	T	C	6: 48,494,848	L50P	probably damaging	Het
St8sia1	A	T	6: 142,876,727	C137S	probably damaging	Het
Syt11	G	C	3: 88,761,952	T211S	possibly damaging	Het
Tanc1	A	C	2: 59,790,809	Y324S	probably damaging	Het
Tas2r136	T	C	6: 132,777,790	I125V	possibly damaging	Het
Tbc1d15	A	T	10: 115,210,225	W458R	probably damaging	Het
Tctex1d2	T	A	16: 32,422,933	M78K	probably benign	Het
Tecta	G	T	9: 42,359,301	T1237N	probably damaging	Het
Tet2	T	A	3: 133,487,290	D461V	probably damaging	Het
Tmco3	G	A	8: 13,318,866	V573M	possibly damaging	Het
Tmem212	A	T	3: 27,884,812	M175K	probably benign	Het
Traf6	A	G	2: 101,696,739	H278R	probably benign	Het
Trerf1	T	A	17: 47,341,166		noncoding transcript	Het
Ttn	A	C	2: 76,746,644	V24635G	probably damaging	Het
Ush1c	A	T	7: 46,209,231	D544E	probably damaging	Het
Usp47	C	T	7: 112,086,100	T586M	probably damaging	Het
Vmn2r1	T	A	3: 64,081,742	M34K	probably benign	Het
Vmn2r102	T	A	17: 19,677,508	W262R	probably damaging	Het
Wasf3	C	T	5: 146,466,959	A293V	probably benign	Het
Xrn2	A	G	2: 147,061,516	Q812R	probably benign	Het
Zc3h7b	T	C	15: 81,768,029	I10T	probably damaging	Het
Zfp747	A	T	7: 127,374,077	L307Q	probably damaging	Het
Zfp777	A	T	6: 48,043,890	F266Y	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	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'- ACCTCGAAGAGTCTGATGCTAGACC -3'
(R):5'- TGCTCTGTACACTTGCTGAGACCC -3'

Sequencing Primer
(F):5'- GAGTCTGATGCTAGACCATTAAGTCC -3'
(R):5'- GGTATCTCAACATCTCAGAAGCTG -3'

Posted On

2014-05-23