Mutagenetix > Incidental Mutation

Incidental Mutation 'R6600:Cdk2ap1rt'

525204

Institutional Source

Beutler Lab

Gene Symbol

Cdk2ap1rt

Ensembl Gene

ENSMUSG00000078154

Gene Name

cyclin dependent kinase 2 associated protein 1 retrotransposed

Synonyms

Gm12184

MMRRC Submission

044724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R6600 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48716173-48717439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 48717115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 21 (V21G)

Ref Sequence

ENSEMBL: ENSMUSP00000100565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104959] [ENSMUST00000109213]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000104959
AA Change: V21G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100565
Gene: ENSMUSG00000078154
AA Change: V21G

Domain	Start	End	E-Value	Type
Pfam:CDK2AP	6	114	9.9e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109213

SMART Domains

Protein: ENSMUSP00000104836
Gene: ENSMUSG00000040350

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
coiled coil region	39	64	N/A	INTRINSIC
low complexity region	78	97	N/A	INTRINSIC
PRY	133	185	4.61e-18	SMART
SPRY	186	299	1.63e-19	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	ACGC	ACGCGC	5: 138,645,710 (GRCm39)		probably null	Het
Adam1b	C	T	5: 121,639,530 (GRCm39)	C505Y	probably damaging	Het
Adam24	C	A	8: 41,133,587 (GRCm39)	H352N	probably damaging	Het
Bcl6b	A	T	11: 70,119,954 (GRCm39)	L11Q	probably damaging	Het
C2cd5	A	T	6: 143,025,702 (GRCm39)	V165E	probably damaging	Het
Cacna1d	T	C	14: 29,836,192 (GRCm39)	N852S	probably benign	Het
Cd320	T	C	17: 34,066,591 (GRCm39)	C110R	probably damaging	Het
Clasrp	T	A	7: 19,324,207 (GRCm39)	K223*	probably null	Het
Col5a1	C	A	2: 27,887,583 (GRCm39)	N951K	unknown	Het
Csn2	T	C	5: 87,842,491 (GRCm39)	T171A	probably benign	Het
Dse	A	G	10: 34,028,537 (GRCm39)	I851T	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxo24	T	A	5: 137,611,135 (GRCm39)	I413F	probably damaging	Het
Flywch2	C	A	17: 23,997,084 (GRCm39)	G109V	possibly damaging	Het
Fnip1	A	G	11: 54,393,925 (GRCm39)	D787G	probably benign	Het
Gramd1c	T	A	16: 43,860,482 (GRCm39)	R72*	probably null	Het
Hspd1	T	C	1: 55,117,777 (GRCm39)	I494V	probably benign	Het
Limch1	T	C	5: 66,903,281 (GRCm39)	V10A	probably benign	Het
Lrrfip1	C	T	1: 91,043,569 (GRCm39)	S658F	probably damaging	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Naip1	C	T	13: 100,559,666 (GRCm39)	G1113S	probably benign	Het
Nlrc3	A	G	16: 3,782,938 (GRCm39)	I157T	probably benign	Het
Or4a67	A	G	2: 88,598,101 (GRCm39)	V186A	probably benign	Het
Pdlim5	T	C	3: 141,965,039 (GRCm39)	R126G	probably damaging	Het
Pgm1	C	T	4: 99,824,259 (GRCm39)	R311*	probably null	Het
Ptcd3	T	C	6: 71,860,530 (GRCm39)	Y559C	probably damaging	Het
Robo1	T	C	16: 72,786,543 (GRCm39)	S852P	probably damaging	Het
Rps6kb2	A	T	19: 4,208,850 (GRCm39)	M259K	probably damaging	Het
Sema4b	T	C	7: 79,862,676 (GRCm39)	L84P	probably benign	Het
Slf1	A	C	13: 77,231,655 (GRCm39)	S575A	probably benign	Het
Tjap1	T	C	17: 46,570,924 (GRCm39)	N173S	probably damaging	Het
Trpm1	T	A	7: 63,803,781 (GRCm39)	M1K	probably null	Het
Ubr1	C	A	2: 120,745,880 (GRCm39)	K851N	probably benign	Het
Zfp568	C	A	7: 29,721,948 (GRCm39)	R298S	possibly damaging	Het

Other mutations in Cdk2ap1rt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4581001:Cdk2ap1rt	UTSW	11	48,716,971 (GRCm39)	missense	possibly damaging	0.94
R2519:Cdk2ap1rt	UTSW	11	48,716,950 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCATACGTCGGTCTGATCTC -3'
(R):5'- GCCCGATGTATGGGTGATCTAC -3'

Sequencing Primer
(F):5'- CTTTCCCCAACTCTTCAATGATGG -3'
(R):5'- TGAGGGACGGCCATAGTTGC -3'

Posted On

2018-06-22