Mutagenetix > Incidental Mutation

Incidental Mutation 'R4639:Cdk5rap2'

350821

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

an, 2900018K03Rik

MMRRC Submission

041901-MU

Accession Numbers

Essential gene?

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

Stock #

R4639 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70135092-70328672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70220413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 584 (A584D)

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: A584D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: A584D

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

0.0874

Coding Region Coverage

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

Validation Efficiency

97% (37/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Atad2b	A	C	12: 5,068,053 (GRCm39)	H1017P	probably damaging	Het
Atp8a1	A	T	5: 67,813,317 (GRCm39)	V943D	probably benign	Het
Babam1	C	T	8: 71,856,951 (GRCm39)	A304V	probably damaging	Het
Ddx21	A	T	10: 62,427,616 (GRCm39)	L429*	probably null	Het
Dsp	T	C	13: 38,380,760 (GRCm39)	Y2502H	probably damaging	Het
Eaf1	G	A	14: 31,226,333 (GRCm39)	D206N	probably benign	Het
Fam43b	T	A	4: 138,123,278 (GRCm39)	D14V	possibly damaging	Het
Fanca	T	A	8: 124,044,889 (GRCm39)	K34I	probably damaging	Het
Fzd4	T	C	7: 89,056,525 (GRCm39)	Y191H	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm10479	A	G	12: 20,483,343 (GRCm39)	T55A	probably damaging	Het
Gsr	T	G	8: 34,187,284 (GRCm39)	I488M	probably damaging	Het
Mrs2	A	G	13: 25,185,767 (GRCm39)	I135T	probably damaging	Het
Myh13	T	C	11: 67,232,377 (GRCm39)	M517T	possibly damaging	Het
Naip1	C	G	13: 100,580,791 (GRCm39)	G152A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nat10	G	A	2: 103,565,234 (GRCm39)	T449I	probably benign	Het
Nin	A	G	12: 70,085,375 (GRCm39)	S1619P	probably damaging	Het
Or14c45	G	A	7: 86,175,969 (GRCm39)	M1I	probably null	Het
Or5m9b	A	G	2: 85,905,923 (GRCm39)	I280V	probably benign	Het
Pcdh15	A	G	10: 74,479,439 (GRCm39)	T448A	probably benign	Het
Pcolce2	A	G	9: 95,519,930 (GRCm39)		probably null	Het
Pnp	C	T	14: 51,188,380 (GRCm39)	R207*	probably null	Het
Ppl	A	G	16: 4,907,310 (GRCm39)	V995A	probably damaging	Het
Ppp2r2a	G	A	14: 67,276,406 (GRCm39)	T33I	probably damaging	Het
Pramel20	C	T	4: 143,298,467 (GRCm39)	R137C	probably benign	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Rgs16	G	T	1: 153,617,781 (GRCm39)	C97F	probably damaging	Het
Sacs	T	A	14: 61,444,717 (GRCm39)	D2254E	probably benign	Het
Slc6a17	T	C	3: 107,381,597 (GRCm39)	M495V	probably benign	Het
Svep1	T	C	4: 58,082,724 (GRCm39)	I1967V	probably benign	Het
Sympk	G	T	7: 18,777,385 (GRCm39)	R545L	possibly damaging	Het
Tcp11l2	A	G	10: 84,420,800 (GRCm39)	D13G	probably damaging	Het
Vmn1r167	T	C	7: 23,205,011 (GRCm39)	I2V	probably benign	Het
Vwa5a	T	C	9: 38,638,410 (GRCm39)		probably null	Het
Wdr95	T	C	5: 149,505,279 (GRCm39)		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
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'- TGGGGACATTCTACCTCTGG -3'
(R):5'- GGCATCGTGGCAATTCTTATTTCC -3'

Sequencing Primer
(F):5'- GACATTCTACCTCTGGTCTAGGG -3'
(R):5'- CCCAGATTTGCTAGGCTT -3'

Posted On

2015-10-08