Mutagenetix > Incidental Mutation

Incidental Mutation 'R8965:Cdk5rap2'

682665

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap2

Ensembl Gene

ENSMUSG00000039298

Gene Name

CDK5 regulatory subunit associated protein 2

Synonyms

an, 2900018K03Rik

MMRRC Submission

068799-MU

Accession Numbers

Essential gene?

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

Stock #

R8965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70135092-70328672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 70185042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1136 (V1136G)

Ref Sequence

ENSEMBL: ENSMUSP00000119891 (fasta)

Gene Model

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

AlphaFold

Q8K389

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 benign
Transcript: ENSMUST00000144099
AA Change: V1136G

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: V1136G

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: 98.5%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,760,723 (GRCm39)	I1260K	probably benign	Het
Ace3	G	T	11: 105,896,175 (GRCm39)	C707F	probably benign	Het
Ahi1	A	G	10: 20,839,761 (GRCm39)	H224R	probably benign	Het
Atp1a2	T	C	1: 172,107,612 (GRCm39)	D669G	probably benign	Het
Cntnap4	T	A	8: 113,479,646 (GRCm39)	V277E	probably damaging	Het
Cyp2d12	T	C	15: 82,443,186 (GRCm39)	L416P	possibly damaging	Het
Dnah17	T	G	11: 117,915,492 (GRCm39)	T4376P	probably damaging	Het
E4f1	C	T	17: 24,664,504 (GRCm39)	V429M	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Erich6	A	T	3: 58,531,738 (GRCm39)	D419E	probably benign	Het
Grid2	A	G	6: 64,296,990 (GRCm39)	E451G	probably damaging	Het
Herpud1	T	C	8: 95,118,469 (GRCm39)	Y181H	probably damaging	Het
Igkv2-109	A	T	6: 68,280,112 (GRCm39)	Y111F	probably damaging	Het
Lztr1	T	C	16: 17,327,296 (GRCm39)		probably null	Het
Myh13	A	T	11: 67,255,432 (GRCm39)	M1601L	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or10ag53	A	T	2: 87,082,901 (GRCm39)	I207F	possibly damaging	Het
Or2w2	T	C	13: 21,758,387 (GRCm39)	T80A	probably benign	Het
Or5p52	T	C	7: 107,502,314 (GRCm39)	L130P	probably damaging	Het
P2rx1	T	C	11: 72,900,051 (GRCm39)	V156A	probably benign	Het
P3h2	T	C	16: 25,791,134 (GRCm39)	N444S	probably benign	Het
Patz1	T	C	11: 3,257,815 (GRCm39)	Y559H	probably damaging	Het
Pcna	T	C	2: 132,094,769 (GRCm39)	D63G	possibly damaging	Het
Pcnx2	G	A	8: 126,485,853 (GRCm39)	A1915V	probably benign	Het
Peli1	T	C	11: 21,098,488 (GRCm39)	Y408H	probably damaging	Het
Psma5	T	A	3: 108,172,510 (GRCm39)		probably null	Het
Ptpn11	G	A	5: 121,301,229 (GRCm39)	T205M	possibly damaging	Het
Rapgef2	A	G	3: 78,999,851 (GRCm39)	L453P	probably damaging	Het
Slc12a4	A	G	8: 106,671,982 (GRCm39)	V910A	possibly damaging	Het
Spaca6	A	G	17: 18,058,718 (GRCm39)	T306A	probably damaging	Het
Spata6	T	A	4: 111,680,009 (GRCm39)	Y422*	probably null	Het
Svop	A	G	5: 114,173,271 (GRCm39)	Y367H	probably benign	Het
Trgv3	T	A	13: 19,427,180 (GRCm39)	L21Q	probably damaging	Het
Trim38	T	C	13: 23,975,006 (GRCm39)	L315S	possibly damaging	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Usp20	T	A	2: 30,901,797 (GRCm39)	Y521N	possibly damaging	Het
Vcam1	T	A	3: 115,922,422 (GRCm39)	K34*	probably null	Het
Vwa1	A	T	4: 155,857,440 (GRCm39)	Y119*	probably null	Het
Vwa5b2	A	G	16: 20,415,076 (GRCm39)	H366R	possibly damaging	Het
Wac	C	A	18: 7,905,936 (GRCm39)	Q168K	probably benign	Het
Wipf2	A	G	11: 98,783,497 (GRCm39)	S308G	probably benign	Het
Zbtb25	A	C	12: 76,396,577 (GRCm39)	I215S	probably benign	Het
Zfp677	T	C	17: 21,617,155 (GRCm39)	S71P	probably damaging	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
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
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'- TGCCATCAATCATCTCCGGG -3'
(R):5'- CCAGCATGCAAAGAGAATCTTG -3'

Sequencing Primer
(F):5'- CATCAATCATCTCCGGGGTTAGTG -3'
(R):5'- GAGAATCTTGAAGACCTCCTAGGC -3'

Posted On

2021-10-11