Mutagenetix > Incidental Mutation

Incidental Mutation 'R5472:Cdk2ap2'

433899

Institutional Source

Beutler Lab

Gene Symbol

Cdk2ap2

Ensembl Gene

ENSMUSG00000024856

Gene Name

CDK2-associated protein 2

Synonyms

MMRRC Submission

043033-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5472 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

4097182-4099019 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4098048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 76 (T76K)

Ref Sequence

ENSEMBL: ENSMUSP00000134093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025779] [ENSMUST00000049658] [ENSMUST00000100022] [ENSMUST00000131265] [ENSMUST00000174149] [ENSMUST00000174514] [ENSMUST00000174799]

AlphaFold

Q9CPY4

Predicted Effect

probably benign
Transcript: ENSMUST00000025779
AA Change: T76K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025779
Gene: ENSMUSG00000024856
AA Change: T76K

Domain	Start	End	E-Value	Type
low complexity region	7	44	N/A	INTRINSIC
Pfam:CDK2AP	58	126	1.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049658

SMART Domains

Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	252	2e-145	PFAM
low complexity region	284	304	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
low complexity region	342	349	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	557	571	N/A	INTRINSIC
low complexity region	578	593	N/A	INTRINSIC
DDHD	685	879	5.94e-86	SMART
Blast:DDHD	880	963	2e-42	BLAST
LNS2	1022	1153	1.35e-57	SMART
low complexity region	1184	1195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100022

SMART Domains

Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	250	1.6e-113	PFAM
low complexity region	284	304	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
low complexity region	342	349	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	557	571	N/A	INTRINSIC
low complexity region	578	593	N/A	INTRINSIC
DDHD	685	879	5.94e-86	SMART
Blast:DDHD	880	963	2e-42	BLAST
LNS2	1022	1153	1.35e-57	SMART
low complexity region	1184	1195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131265

SMART Domains

Protein: ENSMUSP00000120563
Gene: ENSMUSG00000024851

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	252	5e-147	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172914

Predicted Effect

probably benign
Transcript: ENSMUST00000174149

SMART Domains

Protein: ENSMUSP00000134613
Gene: ENSMUSG00000024856

Domain	Start	End	E-Value	Type
low complexity region	7	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174514
AA Change: T76K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000134093
Gene: ENSMUSG00000024856
AA Change: T76K

Domain	Start	End	E-Value	Type
Pfam:CDK2AP	30	107	8.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174799

SMART Domains

Protein: ENSMUSP00000133593
Gene: ENSMUSG00000024856

Domain	Start	End	E-Value	Type
low complexity region	7	44	N/A	INTRINSIC

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,513,429	N506S	probably benign	Het
BC067074	A	G	13: 113,319,169	D583G	probably benign	Het
Brinp3	A	T	1: 146,901,459	H548L	possibly damaging	Het
Cacna1c	A	G	6: 118,638,446	V1328A	possibly damaging	Het
Carmil1	C	T	13: 24,155,471	V47I	probably damaging	Het
Col16a1	T	C	4: 130,092,771		probably benign	Het
Cxcr4	C	A	1: 128,589,625	A100S	probably damaging	Het
Fancl	G	T	11: 26,469,677	C305F	probably damaging	Het
Gcnt2	T	C	13: 40,953,579	V308A	probably benign	Het
Gm11733	A	T	11: 117,484,496	I24L	unknown	Het
Gm765	A	T	6: 98,238,276	C129S	probably damaging	Het
Gm973	A	G	1: 59,628,287		probably null	Het
Gm996	T	C	2: 25,579,702	T66A	probably benign	Het
Heatr5b	A	T	17: 78,801,660	F1057I	probably damaging	Het
Ifi213	A	T	1: 173,567,272		probably null	Het
Ighv1-20	A	T	12: 114,723,851	V91E	probably damaging	Het
Inhba	A	G	13: 16,026,786	E311G	probably damaging	Het
Irx3	G	T	8: 91,799,480		probably null	Het
Jag1	C	A	2: 137,084,995	C948F	probably damaging	Het
Kcna2	T	C	3: 107,105,309	I402T	possibly damaging	Het
Kcnh8	A	T	17: 52,977,816	Q938L	possibly damaging	Het
Lrsam1	ACC	AC	2: 32,945,858		probably null	Het
Macf1	T	C	4: 123,450,061	T2123A	probably benign	Het
Mdh1	A	T	11: 21,559,786	N196K	probably benign	Het
Msh6	G	A	17: 87,984,561	R248Q	possibly damaging	Het
Odf2l	G	T	3: 145,146,866	R457L	probably benign	Het
Olfr822	A	T	10: 130,075,029	L206F	probably damaging	Het
Pphln1	T	C	15: 93,488,975	V318A	possibly damaging	Het
Ppp1r12a	C	T	10: 108,240,112	T267I	probably damaging	Het
Pramef20	T	C	4: 144,377,157	D133G	probably benign	Het
Prpf8	A	C	11: 75,503,643	K1801N	possibly damaging	Het
Raf1	A	G	6: 115,626,706		probably null	Het
Rasal3	C	A	17: 32,396,669	L374F	probably damaging	Het
S1pr3	T	A	13: 51,419,647	V288D	probably damaging	Het
Setd7	G	A	3: 51,521,465	P315S	probably benign	Het
Slx4	C	T	16: 3,991,540	A364T	probably benign	Het
Sp7	G	A	15: 102,359,314	T19I	probably benign	Het
Tlr9	T	A	9: 106,224,313	C268S	probably damaging	Het
Tmem117	T	A	15: 95,094,513	D351E	possibly damaging	Het
Tmem45b	T	A	9: 31,428,044	D211V	possibly damaging	Het
Tns3	A	G	11: 8,451,092	S1069P	probably benign	Het
Tsnax	A	G	8: 125,015,762	I77V	probably benign	Het
Txndc5	G	A	13: 38,513,125	L79F	possibly damaging	Het
Ube2q1	A	G	3: 89,777,241	E14G	probably benign	Het
Vmn2r28	C	T	7: 5,487,944		probably null	Het
Vwde	A	T	6: 13,193,118	D407E	probably benign	Het
Wdr35	T	A	12: 9,016,619	M749K	probably benign	Het
Zfp109	A	T	7: 24,228,621	C462*	probably null	Het

Other mutations in Cdk2ap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4402001:Cdk2ap2	UTSW	19	4098557	missense	probably damaging	0.98
R2001:Cdk2ap2	UTSW	19	4097903	missense	possibly damaging	0.88
R2002:Cdk2ap2	UTSW	19	4097903	missense	possibly damaging	0.88
R4569:Cdk2ap2	UTSW	19	4097879	missense	possibly damaging	0.85
R4942:Cdk2ap2	UTSW	19	4097508	critical splice donor site	probably null
R8843:Cdk2ap2	UTSW	19	4097429	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGACCGCTGTTTAACGACTTTG -3'
(R):5'- GTTCTGTTCCAATCGAGGCTG -3'

Sequencing Primer
(F):5'- AACGACTTTGGTCCGCC -3'
(R):5'- CAATCGAGGCTGGCCCAAATG -3'

Posted On

2016-10-06