Mutagenetix > Incidental Mutations

Incidental Mutation 'R6326:Cdk5rap2'

510393

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

Is this an essential gene?

Possibly essential (E-score: 0.607) question?

Stock #

R6326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70216856-70410443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70235454 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1711 (S1711C)

Ref Sequence

ENSEMBL: ENSMUSP00000119891 (fasta)

Gene Model

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

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: S1711C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: S1711C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	G	9: 50,764,757	N87T	probably damaging	Het
2810474O19Rik	T	A	6: 149,328,995	Y1180N	probably damaging	Het
Adamts17	A	T	7: 67,120,888	Y915F	probably benign	Het
Adap2	T	A	11: 80,155,022	F43I	probably damaging	Het
Adprhl2	A	T	4: 126,316,613	L358Q	possibly damaging	Het
AI314180	T	A	4: 58,827,068	T1022S	probably benign	Het
Akap9	A	C	5: 3,962,061	Q921H	probably damaging	Het
Amigo2	A	G	15: 97,245,375	S389P	probably benign	Het
Atg2b	A	T	12: 105,661,092	C545*	probably null	Het
C2cd3	A	G	7: 100,416,428	E807G	probably benign	Het
Ccdc110	A	G	8: 45,942,041	E323G	probably damaging	Het
Cebpzos	T	G	17: 78,919,057	D39E	probably damaging	Het
Cenpe	A	G	3: 135,239,778	N1018D	probably benign	Het
Clspn	C	A	4: 126,565,739	H141Q	probably damaging	Het
Cluh	C	T	11: 74,666,242	A1010V	probably benign	Het
Col27a1	G	T	4: 63,324,441		probably benign	Het
Cpt2	T	C	4: 107,914,316	M61V	probably benign	Het
Ddr2	T	A	1: 169,987,140	H578L	probably damaging	Het
Dnah14	T	A	1: 181,783,556	I3749N	probably damaging	Het
Dnajc18	T	C	18: 35,680,925	T264A	possibly damaging	Het
Eml6	T	C	11: 29,819,066	N693S	probably damaging	Het
Ephx4	A	G	5: 107,406,111	E9G	probably damaging	Het
Eps15l1	G	A	8: 72,341,434	Q747*	probably null	Het
Flrt1	C	T	19: 7,096,609	S191N	probably damaging	Het
Gm5114	C	T	7: 39,408,155	R680H	probably benign	Het
Gm5431	T	C	11: 48,889,345	H250R	probably damaging	Het
Gm7233	T	C	14: 43,182,885	C198R	possibly damaging	Het
Herc2	C	G	7: 56,222,934	Q4407E	probably damaging	Het
Hmx3	C	G	7: 131,543,005		probably benign	Het
Hoxb7	C	A	11: 96,287,083	A119E	probably benign	Het
Ifi207	A	T	1: 173,729,966	M402K	probably benign	Het
Ints14	T	C	9: 64,964,437	V19A	probably benign	Het
Itgae	T	A	11: 73,131,693	N911K	possibly damaging	Het
Kif1a	T	C	1: 93,076,326	S145G	probably damaging	Het
Klhdc4	A	G	8: 121,805,054	W187R	probably damaging	Het
Krt1	A	T	15: 101,850,249	I160N	probably damaging	Het
Krt12	T	C	11: 99,416,919	T448A	probably benign	Het
Lcmt2	G	A	2: 121,139,457	R382*	probably null	Het
Map3k8	C	T	18: 4,340,651	S221N	probably damaging	Het
Med17	T	C	9: 15,279,558	D79G	probably benign	Het
Mlf1	A	T	3: 67,399,727	I257F	probably damaging	Het
Mov10l1	T	A	15: 88,994,895	F153I	probably damaging	Het
Msto1	A	C	3: 88,912,098	V149G	probably damaging	Het
Mybl1	T	C	1: 9,678,507		probably null	Het
Myoc	A	G	1: 162,649,011	Y428C	probably damaging	Het
Nin	A	G	12: 70,045,181	S785P	possibly damaging	Het
Oit3	A	T	10: 59,428,239	F358I	probably damaging	Het
Olfr1095	C	T	2: 86,850,994	V235I	probably benign	Het
Olfr794	A	G	10: 129,570,702	T16A	possibly damaging	Het
Paip1	A	G	13: 119,430,217	N29S	probably benign	Het
Pcdhgb4	T	C	18: 37,722,456	S635P	probably benign	Het
Pcsk1	A	G	13: 75,132,179	N708D	possibly damaging	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prag1	A	T	8: 36,102,706	M148L	possibly damaging	Het
Ptch1	A	G	13: 63,543,545	L176P	probably damaging	Het
Ralgapa1	A	T	12: 55,747,146	V568D	probably damaging	Het
Rb1	A	T	14: 73,198,534	M897K	probably benign	Het
Robo3	T	A	9: 37,427,027	Q386L	probably damaging	Het
Rtn4rl1	T	C	11: 75,266,002	V420A	possibly damaging	Het
Sall1	A	T	8: 89,030,268	N1069K	probably benign	Het
Sipa1l1	A	G	12: 82,372,468	E640G	probably damaging	Het
Slc22a2	C	A	17: 12,612,410	Y362*	probably null	Het
Slc5a9	T	C	4: 111,880,253	E603G	probably benign	Het
Slc6a17	A	T	3: 107,500,406	I83N	probably damaging	Het
Snx29	G	T	16: 11,403,566	M285I	probably benign	Het
Spata2	T	C	2: 167,484,174	T242A	possibly damaging	Het
Stard13	A	G	5: 151,046,919	L733P	possibly damaging	Het
Svep1	A	G	4: 58,073,045	V2088A	possibly damaging	Het
Tdp2	A	G	13: 24,840,557	E279G	probably damaging	Het
Tnfrsf8	T	G	4: 145,269,224	I422L	probably damaging	Het
Tpk1	T	A	6: 43,346,802	T189S	possibly damaging	Het
Trhde	A	T	10: 114,567,224	M498K	probably damaging	Het
Trim35	T	A	14: 66,303,204	H168Q	possibly damaging	Het
Tubb5	T	C	17: 35,836,455		probably benign	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r77	G	A	7: 86,801,823	G306R	probably benign	Het
Xkr4	C	T	1: 3,671,038	R104H	possibly damaging	Het
Zcchc11	C	T	4: 108,478,980	T6I	probably benign	Het
Zfp398	T	C	6: 47,866,421	I337T	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
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
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
Z1176:Cdk5rap2	UTSW	4	70266743	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTTAGTGTGGCCCCAAC -3'
(R):5'- AGTGTCATGTAATCCCAGCTCC -3'

Sequencing Primer
(F):5'- AAGGTGGGGCACATTTCC -3'
(R):5'- CAGCTCCTGATCCTGAAACAGG -3'

Posted On

2018-04-02