Mutagenetix > Incidental Mutation

Incidental Mutation 'R6534:Cdk5rap2'

520259

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

an, 2900018K03Rik

MMRRC Submission

044660-MU

Accession Numbers

Essential gene?

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

Stock #

R6534 (G1)

Quality Score

214.009

Status

Validated

Chromosome

Chromosomal Location

70135092-70328672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70273050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 241 (E241G)

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 damaging
Transcript: ENSMUST00000144099
AA Change: E241G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: E241G

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

0.0793

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (37/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	A	T	7: 97,875,655 (GRCm39)	L142M	probably benign	Het
Adgrb2	T	C	4: 129,916,012 (GRCm39)	F1435L	probably damaging	Het
Anapc13	T	C	9: 102,511,292 (GRCm39)	L60P	probably damaging	Het
Apaf1	T	C	10: 90,891,862 (GRCm39)	D497G	probably damaging	Het
Arpc1b	A	T	5: 145,059,377 (GRCm39)	I34F	probably damaging	Het
Atp2a2	A	T	5: 122,595,261 (GRCm39)	W1030R	possibly damaging	Het
Cyp4a14	T	A	4: 115,347,156 (GRCm39)		probably null	Het
Ddx10	A	G	9: 53,134,988 (GRCm39)	Y399H	probably damaging	Het
Dnah9	T	C	11: 65,846,074 (GRCm39)	E2988G	probably damaging	Het
Dock10	T	C	1: 80,481,388 (GRCm39)	I536M	probably benign	Het
Drc7	T	C	8: 95,797,910 (GRCm39)	Y443H	probably damaging	Het
Ecel1	A	G	1: 87,082,564 (GRCm39)	S50P	probably benign	Het
Esco1	T	A	18: 10,594,794 (GRCm39)	Q164L	possibly damaging	Het
Exosc7	A	G	9: 122,961,077 (GRCm39)	D248G	probably benign	Het
Galnt3	A	G	2: 65,932,875 (GRCm39)	L201P	probably damaging	Het
Hand2	C	A	8: 57,775,071 (GRCm39)	H44N	probably benign	Het
Kcnq1	C	T	7: 142,748,064 (GRCm39)	P411S	probably benign	Het
Lonp2	A	G	8: 87,443,086 (GRCm39)	D429G	probably benign	Het
Magi3	A	G	3: 103,992,536 (GRCm39)	I312T	possibly damaging	Het
Mansc4	A	T	6: 146,988,371 (GRCm39)	I31N	probably damaging	Het
Mill2	T	A	7: 18,590,521 (GRCm39)	D200E	possibly damaging	Het
Or5d47	G	A	2: 87,804,385 (GRCm39)	A208V	probably benign	Het
Pde4d	A	G	13: 109,769,435 (GRCm39)	K41R	probably benign	Het
Pik3r5	G	A	11: 68,381,443 (GRCm39)	D210N	possibly damaging	Het
Plcl1	C	T	1: 55,735,907 (GRCm39)	T416I	probably damaging	Het
Plekhd1	T	C	12: 80,754,031 (GRCm39)	Y166H	probably damaging	Het
Prrc1	A	G	18: 57,522,346 (GRCm39)	T393A	probably damaging	Het
Scaper	A	T	9: 55,791,260 (GRCm39)	C213S	probably benign	Het
Sfxn4	T	C	19: 60,827,461 (GRCm39)	I298V	probably damaging	Het
Slc36a2	A	T	11: 55,075,693 (GRCm39)	D31E	probably benign	Het
Stra6l	G	A	4: 45,860,041 (GRCm39)		probably null	Het
Tnpo3	A	T	6: 29,572,702 (GRCm39)		probably null	Het
Tonsl	A	G	15: 76,513,877 (GRCm39)	Y1231H	probably damaging	Het
Ush2a	C	A	1: 188,183,999 (GRCm39)	Y1434*	probably null	Het
Zfp69	T	C	4: 120,788,394 (GRCm39)	Y307C	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
R4560:Cdk5rap2	UTSW	4	70,233,568 (GRCm39)	missense	probably benign	0.03
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
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'- CGGACAAGTTACTGTGCAAACC -3'
(R):5'- TAAATCCCTGGGCAAGGCTAG -3'

Sequencing Primer
(F):5'- GTGCAAACCACGCAGCAC -3'
(R):5'- GACAAGAGGACTCATTAATGTCAC -3'

Posted On

2018-06-06