Mutagenetix > Incidental Mutation

Incidental Mutation 'R4560:Cdk5rap2'

343029

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

an, 2900018K03Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R4560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70135092-70328672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70233568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 537 (F537S)

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: F537S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: F537S

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	C	14: 56,016,407 (GRCm39)		probably null	Het
Atp8b1	A	T	18: 64,689,950 (GRCm39)	L594*	probably null	Het
Atp8b1	C	T	18: 64,701,318 (GRCm39)	V347I	probably benign	Het
Axin1	A	G	17: 26,392,745 (GRCm39)	D342G	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Capn10	T	C	1: 92,867,084 (GRCm39)	Y105H	probably damaging	Het
Ccdc89	T	G	7: 90,076,336 (GRCm39)	L182R	probably damaging	Het
Cidec	A	T	6: 113,405,399 (GRCm39)	M118K	probably damaging	Het
Cog8	A	T	8: 107,778,843 (GRCm39)		probably null	Het
Ctif	A	T	18: 75,652,952 (GRCm39)	L435Q	probably damaging	Het
Dhx9	A	G	1: 153,342,903 (GRCm39)	V533A	probably damaging	Het
Drc1	T	A	5: 30,520,441 (GRCm39)	M594K	probably benign	Het
Dthd1	C	T	5: 62,984,435 (GRCm39)	T380I	probably damaging	Het
Fat2	A	G	11: 55,156,777 (GRCm39)	S3475P	possibly damaging	Het
G6pd2	G	A	5: 61,967,686 (GRCm39)	R487H	possibly damaging	Het
Hcrtr2	A	G	9: 76,161,970 (GRCm39)	V140A	probably damaging	Het
Ikbke	C	T	1: 131,199,857 (GRCm39)	C243Y	probably damaging	Het
Il21	C	A	3: 37,279,633 (GRCm39)	E128*	probably null	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Me3	G	T	7: 89,498,938 (GRCm39)	R506L	probably benign	Het
Mtf2	T	A	5: 108,234,855 (GRCm39)		probably null	Het
Nbas	A	G	12: 13,633,528 (GRCm39)	N2311S	probably benign	Het
Nomo1	G	T	7: 45,690,904 (GRCm39)	V97L	probably damaging	Het
Pcdhb11	G	A	18: 37,556,787 (GRCm39)	V706I	possibly damaging	Het
Pkhd1	G	A	1: 20,282,082 (GRCm39)	R2920C	probably damaging	Het
Prox2	T	C	12: 85,141,817 (GRCm39)	T129A	probably benign	Het
Rgs18	T	G	1: 144,631,720 (GRCm39)	I131L	probably benign	Het
Rnf19b	G	T	4: 128,965,616 (GRCm39)	C57F	probably damaging	Het
Rpl11	T	C	4: 135,778,522 (GRCm39)	Y122C	probably damaging	Het
Sarnp	A	G	10: 128,682,412 (GRCm39)	K5R	probably damaging	Het
Scg2	A	T	1: 79,412,898 (GRCm39)	H568Q	probably damaging	Het
Septin10	T	C	10: 59,019,417 (GRCm39)	Y150C	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Smco2	T	A	6: 146,772,674 (GRCm39)	V292D	possibly damaging	Het
Smok3c	A	G	5: 138,062,746 (GRCm39)	M78V	probably benign	Het
Spag16	C	A	1: 69,883,455 (GRCm39)	F61L	probably benign	Het
Spata22	G	A	11: 73,236,585 (GRCm39)	R297H	probably damaging	Het
Spata31d1e	A	G	13: 59,889,571 (GRCm39)	S750P	probably damaging	Het
Syt3	C	A	7: 44,045,368 (GRCm39)	P536Q	probably benign	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Trim9	A	C	12: 70,393,892 (GRCm39)	Y17*	probably null	Het
Tsga10	A	G	1: 37,846,163 (GRCm39)	M321T	probably benign	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Ubxn1	C	T	19: 8,851,588 (GRCm39)	T207I	probably benign	Het
Vmn2r117	A	T	17: 23,678,851 (GRCm39)	V791D	probably damaging	Het
Vps54	C	G	11: 21,262,260 (GRCm39)	C785W	possibly damaging	Het
Zfp616	A	G	11: 73,973,860 (GRCm39)	D43G	probably benign	Het
Zfp952	A	G	17: 33,222,928 (GRCm39)	H469R	probably benign	Het

Other mutations in Cdk5rap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Cdk5rap2	APN	4	70,321,709 (GRCm39)	critical splice donor site	probably null
IGL01305:Cdk5rap2	APN	4	70,298,472 (GRCm39)	missense	possibly damaging	0.52
IGL01987:Cdk5rap2	APN	4	70,220,319 (GRCm39)	critical splice donor site	probably null
IGL02213:Cdk5rap2	APN	4	70,235,839 (GRCm39)	splice site	probably benign
IGL02732:Cdk5rap2	APN	4	70,184,902 (GRCm39)	nonsense	probably null
IGL03063:Cdk5rap2	APN	4	70,273,114 (GRCm39)	critical splice acceptor site	probably null
IGL03244:Cdk5rap2	APN	4	70,199,672 (GRCm39)	missense	probably benign	0.19
ANU22:Cdk5rap2	UTSW	4	70,298,472 (GRCm39)	missense	possibly damaging	0.52
F5426:Cdk5rap2	UTSW	4	70,173,040 (GRCm39)	missense	probably benign
R0010:Cdk5rap2	UTSW	4	70,161,696 (GRCm39)	missense	probably benign	0.01
R0010:Cdk5rap2	UTSW	4	70,161,696 (GRCm39)	missense	probably benign	0.01
R0044:Cdk5rap2	UTSW	4	70,279,138 (GRCm39)	missense	probably damaging	1.00
R0044:Cdk5rap2	UTSW	4	70,279,138 (GRCm39)	missense	probably damaging	1.00
R0482:Cdk5rap2	UTSW	4	70,328,506 (GRCm39)	start gained	probably benign
R0548:Cdk5rap2	UTSW	4	70,267,379 (GRCm39)	critical splice donor site	probably null
R0594:Cdk5rap2	UTSW	4	70,273,050 (GRCm39)	missense	probably damaging	0.98
R0737:Cdk5rap2	UTSW	4	70,255,612 (GRCm39)	missense	probably benign	0.01
R0788:Cdk5rap2	UTSW	4	70,225,468 (GRCm39)	missense	possibly damaging	0.90
R0960:Cdk5rap2	UTSW	4	70,161,745 (GRCm39)	missense	probably benign	0.03
R1682:Cdk5rap2	UTSW	4	70,220,387 (GRCm39)	missense	possibly damaging	0.92
R1727:Cdk5rap2	UTSW	4	70,208,209 (GRCm39)	missense	possibly damaging	0.70
R1727:Cdk5rap2	UTSW	4	70,190,916 (GRCm39)	missense	probably benign
R1768:Cdk5rap2	UTSW	4	70,225,470 (GRCm39)	missense	probably benign	0.09
R1903:Cdk5rap2	UTSW	4	70,321,791 (GRCm39)	splice site	probably null
R2270:Cdk5rap2	UTSW	4	70,184,915 (GRCm39)	missense	probably benign	0.01
R2271:Cdk5rap2	UTSW	4	70,184,915 (GRCm39)	missense	probably benign	0.01
R2272:Cdk5rap2	UTSW	4	70,184,915 (GRCm39)	missense	probably benign	0.01
R2364:Cdk5rap2	UTSW	4	70,279,046 (GRCm39)	critical splice donor site	probably null
R2763:Cdk5rap2	UTSW	4	70,199,508 (GRCm39)	missense	probably benign
R2893:Cdk5rap2	UTSW	4	70,208,110 (GRCm39)	missense	probably benign
R2894:Cdk5rap2	UTSW	4	70,208,110 (GRCm39)	missense	probably benign
R2958:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R2959:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R2961:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R2962:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R2963:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R3522:Cdk5rap2	UTSW	4	70,168,647 (GRCm39)	missense	probably damaging	1.00
R3725:Cdk5rap2	UTSW	4	70,153,674 (GRCm39)	missense	possibly damaging	0.89
R3726:Cdk5rap2	UTSW	4	70,153,674 (GRCm39)	missense	possibly damaging	0.89
R3876:Cdk5rap2	UTSW	4	70,208,214 (GRCm39)	frame shift	probably null
R3919:Cdk5rap2	UTSW	4	70,298,460 (GRCm39)	missense	possibly damaging	0.50
R4025:Cdk5rap2	UTSW	4	70,168,624 (GRCm39)	missense	probably damaging	0.98
R4324:Cdk5rap2	UTSW	4	70,271,851 (GRCm39)	missense	probably damaging	1.00
R4485:Cdk5rap2	UTSW	4	70,157,520 (GRCm39)	critical splice donor site	probably null
R4516:Cdk5rap2	UTSW	4	70,194,952 (GRCm39)	splice site	probably null
R4556:Cdk5rap2	UTSW	4	70,157,549 (GRCm39)	missense	probably damaging	0.97
R4584:Cdk5rap2	UTSW	4	70,184,997 (GRCm39)	missense	probably damaging	1.00
R4620:Cdk5rap2	UTSW	4	70,184,943 (GRCm39)	missense	probably benign	0.00
R4639:Cdk5rap2	UTSW	4	70,220,413 (GRCm39)	missense	probably damaging	0.97
R4755:Cdk5rap2	UTSW	4	70,156,662 (GRCm39)	missense	probably damaging	1.00
R4947:Cdk5rap2	UTSW	4	70,146,829 (GRCm39)	splice site	probably null
R5116:Cdk5rap2	UTSW	4	70,225,475 (GRCm39)	missense	possibly damaging	0.67
R5449:Cdk5rap2	UTSW	4	70,194,888 (GRCm39)	missense	probably benign	0.00
R5643:Cdk5rap2	UTSW	4	70,184,970 (GRCm39)	missense	probably damaging	0.99
R5899:Cdk5rap2	UTSW	4	70,161,830 (GRCm39)	splice site	probably benign
R6177:Cdk5rap2	UTSW	4	70,199,719 (GRCm39)	missense	probably damaging	0.99
R6254:Cdk5rap2	UTSW	4	70,282,269 (GRCm39)	missense	probably damaging	1.00
R6326:Cdk5rap2	UTSW	4	70,153,691 (GRCm39)	missense	probably damaging	1.00
R6335:Cdk5rap2	UTSW	4	70,184,849 (GRCm39)	missense	possibly damaging	0.79
R6534:Cdk5rap2	UTSW	4	70,273,050 (GRCm39)	missense	probably damaging	0.98
R6857:Cdk5rap2	UTSW	4	70,163,633 (GRCm39)	nonsense	probably null
R6959:Cdk5rap2	UTSW	4	70,278,906 (GRCm39)	splice site	probably null
R7104:Cdk5rap2	UTSW	4	70,267,393 (GRCm39)	missense	probably benign	0.00
R7145:Cdk5rap2	UTSW	4	70,156,468 (GRCm39)	missense	probably benign	0.13
R7223:Cdk5rap2	UTSW	4	70,153,684 (GRCm39)	missense	probably benign	0.02
R7234:Cdk5rap2	UTSW	4	70,295,024 (GRCm39)	splice site	probably null
R7240:Cdk5rap2	UTSW	4	70,210,145 (GRCm39)	missense	probably damaging	1.00
R7247:Cdk5rap2	UTSW	4	70,255,666 (GRCm39)	missense	probably damaging	1.00
R7382:Cdk5rap2	UTSW	4	70,208,262 (GRCm39)	missense	probably benign	0.19
R7413:Cdk5rap2	UTSW	4	70,172,972 (GRCm39)	missense	probably damaging	1.00
R7576:Cdk5rap2	UTSW	4	70,185,109 (GRCm39)	missense	probably benign	0.01
R8236:Cdk5rap2	UTSW	4	70,160,722 (GRCm39)	missense	probably benign
R8434:Cdk5rap2	UTSW	4	70,282,257 (GRCm39)	missense	probably benign	0.00
R8688:Cdk5rap2	UTSW	4	70,298,510 (GRCm39)	missense	probably damaging	1.00
R8706:Cdk5rap2	UTSW	4	70,157,562 (GRCm39)	missense	probably benign	0.08
R8731:Cdk5rap2	UTSW	4	70,163,747 (GRCm39)	splice site	probably benign
R8782:Cdk5rap2	UTSW	4	70,161,712 (GRCm39)	missense	possibly damaging	0.57
R8855:Cdk5rap2	UTSW	4	70,218,887 (GRCm39)	missense	probably damaging	1.00
R8965:Cdk5rap2	UTSW	4	70,185,042 (GRCm39)	missense	probably benign	0.30
R9242:Cdk5rap2	UTSW	4	70,255,583 (GRCm39)	missense	possibly damaging	0.46
R9308:Cdk5rap2	UTSW	4	70,328,504 (GRCm39)	start codon destroyed	probably null	0.99
R9396:Cdk5rap2	UTSW	4	70,182,895 (GRCm39)	missense	probably damaging	0.97
R9396:Cdk5rap2	UTSW	4	70,172,903 (GRCm39)	missense	possibly damaging	0.75
R9507:Cdk5rap2	UTSW	4	70,210,110 (GRCm39)	missense	probably benign
Z1176:Cdk5rap2	UTSW	4	70,184,980 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCACAGCAAACAGGAATGC -3'
(R):5'- TCACAGCTCTGTTAGTTGCC -3'

Sequencing Primer
(F):5'- CAGGAATGCCCAGACAAAGGATAC -3'
(R):5'- CCTGCCATTTTGGGATGATAGAATG -3'

Posted On

2015-09-24