Mutagenetix > Incidental Mutation

Incidental Mutation 'R5472:Cdk2ap2'

433899

Institutional Source

Beutler Lab

Gene Symbol

Cdk2ap2

Ensembl Gene

ENSMUSG00000024856

Gene Name

cyclin dependent kinase 2 associated protein 2

Synonyms

5830466O21Rik

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

4147182-4149019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4148048 bp (GRCm39)

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
Ajm1	T	C	2: 25,469,714 (GRCm39)	T66A	probably benign	Het
Akap11	T	C	14: 78,750,869 (GRCm39)	N506S	probably benign	Het
Brinp3	A	T	1: 146,777,197 (GRCm39)	H548L	possibly damaging	Het
Cacna1c	A	G	6: 118,615,407 (GRCm39)	V1328A	possibly damaging	Het
Carmil1	C	T	13: 24,339,454 (GRCm39)	V47I	probably damaging	Het
Col16a1	T	C	4: 129,986,564 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,455,703 (GRCm39)	D583G	probably benign	Het
Cxcr4	C	A	1: 128,517,362 (GRCm39)	A100S	probably damaging	Het
Fancl	G	T	11: 26,419,677 (GRCm39)	C305F	probably damaging	Het
Gcnt2	T	C	13: 41,107,055 (GRCm39)	V308A	probably benign	Het
Gm11733	A	T	11: 117,375,322 (GRCm39)	I24L	unknown	Het
Gm973	A	G	1: 59,667,446 (GRCm39)		probably null	Het
Heatr5b	A	T	17: 79,109,089 (GRCm39)	F1057I	probably damaging	Het
Ifi213	A	T	1: 173,394,838 (GRCm39)		probably null	Het
Ighv1-20	A	T	12: 114,687,471 (GRCm39)	V91E	probably damaging	Het
Inhba	A	G	13: 16,201,371 (GRCm39)	E311G	probably damaging	Het
Irx3	G	T	8: 92,526,108 (GRCm39)		probably null	Het
Jag1	C	A	2: 136,926,915 (GRCm39)	C948F	probably damaging	Het
Kcna2	T	C	3: 107,012,625 (GRCm39)	I402T	possibly damaging	Het
Kcnh8	A	T	17: 53,284,844 (GRCm39)	Q938L	possibly damaging	Het
Lrsam1	ACC	AC	2: 32,835,870 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,343,854 (GRCm39)	T2123A	probably benign	Het
Mdfic2	A	T	6: 98,215,237 (GRCm39)	C129S	probably damaging	Het
Mdh1	A	T	11: 21,509,786 (GRCm39)	N196K	probably benign	Het
Msh6	G	A	17: 88,291,989 (GRCm39)	R248Q	possibly damaging	Het
Odf2l	G	T	3: 144,852,627 (GRCm39)	R457L	probably benign	Het
Or6c69c	A	T	10: 129,910,898 (GRCm39)	L206F	probably damaging	Het
Pphln1	T	C	15: 93,386,856 (GRCm39)	V318A	possibly damaging	Het
Ppp1r12a	C	T	10: 108,075,973 (GRCm39)	T267I	probably damaging	Het
Pramel15	T	C	4: 144,103,727 (GRCm39)	D133G	probably benign	Het
Prpf8	A	C	11: 75,394,469 (GRCm39)	K1801N	possibly damaging	Het
Raf1	A	G	6: 115,603,667 (GRCm39)		probably null	Het
Rasal3	C	A	17: 32,615,643 (GRCm39)	L374F	probably damaging	Het
S1pr3	T	A	13: 51,573,683 (GRCm39)	V288D	probably damaging	Het
Setd7	G	A	3: 51,428,886 (GRCm39)	P315S	probably benign	Het
Slx4	C	T	16: 3,809,404 (GRCm39)	A364T	probably benign	Het
Sp7	G	A	15: 102,267,749 (GRCm39)	T19I	probably benign	Het
Tlr9	T	A	9: 106,101,512 (GRCm39)	C268S	probably damaging	Het
Tmem117	T	A	15: 94,992,394 (GRCm39)	D351E	possibly damaging	Het
Tmem45b	T	A	9: 31,339,340 (GRCm39)	D211V	possibly damaging	Het
Tns3	A	G	11: 8,401,092 (GRCm39)	S1069P	probably benign	Het
Tsnax	A	G	8: 125,742,501 (GRCm39)	I77V	probably benign	Het
Txndc5	G	A	13: 38,697,101 (GRCm39)	L79F	possibly damaging	Het
Ube2q1	A	G	3: 89,684,548 (GRCm39)	E14G	probably benign	Het
Vmn2r28	C	T	7: 5,490,943 (GRCm39)		probably null	Het
Vwde	A	T	6: 13,193,117 (GRCm39)	D407E	probably benign	Het
Wdr35	T	A	12: 9,066,619 (GRCm39)	M749K	probably benign	Het
Zfp109	A	T	7: 23,928,046 (GRCm39)	C462*	probably null	Het

Other mutations in Cdk2ap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4402001:Cdk2ap2	UTSW	19	4,148,557 (GRCm39)	missense	probably damaging	0.98
R2001:Cdk2ap2	UTSW	19	4,147,903 (GRCm39)	missense	possibly damaging	0.88
R2002:Cdk2ap2	UTSW	19	4,147,903 (GRCm39)	missense	possibly damaging	0.88
R4569:Cdk2ap2	UTSW	19	4,147,879 (GRCm39)	missense	possibly damaging	0.85
R4942:Cdk2ap2	UTSW	19	4,147,508 (GRCm39)	critical splice donor site	probably null
R8843:Cdk2ap2	UTSW	19	4,147,429 (GRCm39)	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