Mutagenetix > Incidental Mutation

Incidental Mutation 'R5782:Cdk5rap3'

447819

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap3

Ensembl Gene

ENSMUSG00000018669

Gene Name

CDK5 regulatory subunit associated protein 3

Synonyms

HSF-27, MST016, OK/SW-cl.114, 1810007E24Rik, C53, IC53

MMRRC Submission

043379-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96798252-96807322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96802412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 254 (L254P)

Ref Sequence

ENSEMBL: ENSMUSP00000099441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103152] [ENSMUST00000127048] [ENSMUST00000130774] [ENSMUST00000134732] [ENSMUST00000144731] [ENSMUST00000147573] [ENSMUST00000153305] [ENSMUST00000156315]

AlphaFold

Q99LM2

Predicted Effect

probably benign
Transcript: ENSMUST00000103152
AA Change: L254P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099441
Gene: ENSMUSG00000018669
AA Change: L254P

Domain	Start	End	E-Value	Type
Pfam:DUF773	4	500	3.7e-195	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127048

SMART Domains

Protein: ENSMUSP00000114849
Gene: ENSMUSG00000018669

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	145	1.4e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130767

Predicted Effect

probably benign
Transcript: ENSMUST00000130774

SMART Domains

Protein: ENSMUSP00000114661
Gene: ENSMUSG00000018669

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	80	1.6e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131501

Predicted Effect

probably benign
Transcript: ENSMUST00000134732

SMART Domains

Protein: ENSMUSP00000120258
Gene: ENSMUSG00000018669

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	107	4.7e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144731

SMART Domains

Protein: ENSMUSP00000114724
Gene: ENSMUSG00000018669

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	124	9.8e-70	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149033

Predicted Effect

probably benign
Transcript: ENSMUST00000147573

Predicted Effect

probably benign
Transcript: ENSMUST00000153305

SMART Domains

Protein: ENSMUSP00000116405
Gene: ENSMUSG00000018669

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	115	4.2e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156315

SMART Domains

Protein: ENSMUSP00000123113
Gene: ENSMUSG00000018669

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	140	2.2e-79	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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 has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,735 (GRCm39)	Q265L	probably benign	Het
Adamtsl3	T	A	7: 82,189,494 (GRCm39)		probably null	Het
Agt	A	T	8: 125,283,870 (GRCm39)		probably null	Het
Ankrd11	A	G	8: 123,626,756 (GRCm39)	L142P	probably damaging	Het
Arhgef19	C	A	4: 140,983,623 (GRCm39)	Q719K	probably damaging	Het
Armh3	A	G	19: 45,874,466 (GRCm39)	V569A	probably benign	Het
Atrnl1	G	T	19: 57,741,718 (GRCm39)	W1159L	possibly damaging	Het
Atxn2	T	C	5: 121,935,373 (GRCm39)	Y325H	probably damaging	Het
Brwd1	A	T	16: 95,844,243 (GRCm39)	Y770*	probably null	Het
Cdc20	T	C	4: 118,290,239 (GRCm39)	E474G	probably benign	Het
Cep83	A	T	10: 94,584,894 (GRCm39)	N333I	probably damaging	Het
Cox4i2	A	C	2: 152,606,731 (GRCm39)	D150A	probably damaging	Het
Cse1l	A	G	2: 166,770,921 (GRCm39)	I314M	probably damaging	Het
Cuedc1	A	G	11: 88,060,858 (GRCm39)	Y67C	probably damaging	Het
Cyp2j9	C	T	4: 96,462,142 (GRCm39)	V380I	probably benign	Het
Fancd2	A	G	6: 113,525,833 (GRCm39)	N302S	probably benign	Het
Foxa1	T	A	12: 57,589,302 (GRCm39)	H306L	probably benign	Het
Gse1	T	C	8: 121,293,260 (GRCm39)	S204P	probably damaging	Het
Hspa13	C	A	16: 75,554,985 (GRCm39)	R367L	probably damaging	Het
Kcnk2	T	G	1: 188,988,776 (GRCm39)	D267A	probably damaging	Het
Kctd18	A	G	1: 57,998,396 (GRCm39)	Y68H	probably damaging	Het
Khdc4	T	G	3: 88,618,985 (GRCm39)	V563G	probably damaging	Het
Klf7	C	T	1: 64,081,570 (GRCm39)	E253K	possibly damaging	Het
Lcn12	A	T	2: 25,383,769 (GRCm39)	F34I	probably damaging	Het
Lrrk2	A	T	15: 91,586,386 (GRCm39)	R401W	probably damaging	Het
Lzts1	A	T	8: 69,593,350 (GRCm39)	S86T	probably benign	Het
Mtres1	T	C	10: 43,408,899 (GRCm39)	I81M	probably benign	Het
Mtus1	T	A	8: 41,535,764 (GRCm39)	I651F	probably damaging	Het
Myl2	T	A	5: 122,242,933 (GRCm39)	F106L	probably damaging	Het
Neb	T	A	2: 52,154,059 (GRCm39)	K2351*	probably null	Het
Or14c45	T	A	7: 86,176,421 (GRCm39)	I152N	probably damaging	Het
Or52e5	T	C	7: 104,718,956 (GRCm39)	I94T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Parg	A	T	14: 31,996,862 (GRCm39)	R318*	probably null	Het
Pcdhga3	C	T	18: 37,809,353 (GRCm39)	S602F	possibly damaging	Het
Pcnx2	A	G	8: 126,480,223 (GRCm39)	V2028A	probably damaging	Het
Pkhd1	T	C	1: 20,128,824 (GRCm39)	T3960A	probably benign	Het
Psen1	T	A	12: 83,759,233 (GRCm39)	H81Q	possibly damaging	Het
Psma6	A	G	12: 55,457,041 (GRCm39)	N109S	possibly damaging	Het
Ptpro	A	T	6: 137,376,496 (GRCm39)	I659F	possibly damaging	Het
Rap1gds1	C	G	3: 138,664,840 (GRCm39)	E288D	possibly damaging	Het
Reln	C	T	5: 22,223,054 (GRCm39)	R993K	probably benign	Het
Saxo1	T	A	4: 86,364,044 (GRCm39)	L146F	probably damaging	Het
Six4	A	G	12: 73,150,832 (GRCm39)	V571A	probably benign	Het
Slc2a10	C	A	2: 165,356,758 (GRCm39)	Y139*	probably null	Het
Slc34a1	A	G	13: 55,550,501 (GRCm39)	I66V	possibly damaging	Het
Slfn8	G	T	11: 82,907,867 (GRCm39)	N46K	probably damaging	Het
Smc6	G	C	12: 11,340,835 (GRCm39)	A496P	probably damaging	Het
Stk31	T	G	6: 49,446,070 (GRCm39)	N902K	probably benign	Het
Stk36	T	A	1: 74,644,584 (GRCm39)	Y114N	possibly damaging	Het
Sult2b1	C	T	7: 45,380,770 (GRCm39)	V271M	probably damaging	Het
Tenm4	A	G	7: 96,542,246 (GRCm39)	I1920V	probably benign	Het
Trbc2	A	G	6: 41,523,871 (GRCm39)		probably benign	Het
Trpc2	A	G	7: 101,733,186 (GRCm39)	D419G	possibly damaging	Het
Trpm7	T	C	2: 126,639,634 (GRCm39)	N1654S	probably benign	Het
Tsku	A	T	7: 98,002,057 (GRCm39)	D91E	probably damaging	Het
Ttn	T	A	2: 76,606,355 (GRCm39)	R18151S	probably damaging	Het
Tyr	C	T	7: 87,142,224 (GRCm39)	C112Y	probably damaging	Het
Ubash3a	G	A	17: 31,454,477 (GRCm39)	G435S	probably benign	Het
Vav1	T	C	17: 57,603,001 (GRCm39)	I51T	probably damaging	Het
Vmn2r61	T	A	7: 41,949,253 (GRCm39)	C558S	probably damaging	Het
Zan	C	T	5: 137,418,269 (GRCm39)	C2943Y	unknown	Het
Zfp1002	T	C	2: 150,097,438 (GRCm39)	E25G	probably benign	Het
Zfp267	T	C	3: 36,219,128 (GRCm39)	S384P	possibly damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp575	C	A	7: 24,285,027 (GRCm39)	G205C	possibly damaging	Het
Zfp740	G	T	15: 102,116,801 (GRCm39)		probably benign	Het
Zzz3	A	G	3: 152,133,737 (GRCm39)	E265G	possibly damaging	Het

Other mutations in Cdk5rap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Cdk5rap3	APN	11	96,804,225 (GRCm39)	missense	probably damaging	1.00
IGL00958:Cdk5rap3	APN	11	96,800,793 (GRCm39)	missense	probably benign	0.04
IGL00964:Cdk5rap3	APN	11	96,800,765 (GRCm39)	critical splice donor site	probably null
IGL01767:Cdk5rap3	APN	11	96,804,291 (GRCm39)	missense	probably damaging	1.00
IGL02321:Cdk5rap3	APN	11	96,804,291 (GRCm39)	missense	probably damaging	1.00
IGL02352:Cdk5rap3	APN	11	96,807,003 (GRCm39)	missense	probably damaging	1.00
R0032:Cdk5rap3	UTSW	11	96,799,579 (GRCm39)	missense	possibly damaging	0.61
R0894:Cdk5rap3	UTSW	11	96,799,654 (GRCm39)	missense	probably damaging	1.00
R1795:Cdk5rap3	UTSW	11	96,799,654 (GRCm39)	missense	probably damaging	1.00
R5035:Cdk5rap3	UTSW	11	96,806,911 (GRCm39)	utr 5 prime	probably benign
R5530:Cdk5rap3	UTSW	11	96,802,459 (GRCm39)	nonsense	probably null
R6278:Cdk5rap3	UTSW	11	96,802,729 (GRCm39)	missense	probably damaging	1.00
R6888:Cdk5rap3	UTSW	11	96,807,018 (GRCm39)	missense	probably benign	0.33
R7526:Cdk5rap3	UTSW	11	96,800,771 (GRCm39)	missense	probably benign	0.05
R8197:Cdk5rap3	UTSW	11	96,806,975 (GRCm39)	critical splice donor site	probably null
R8784:Cdk5rap3	UTSW	11	96,803,212 (GRCm39)	missense	probably benign	0.35
Z1177:Cdk5rap3	UTSW	11	96,803,042 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCACTCTGGTCTCAGGAAAG -3'
(R):5'- CTGTGTTGGTAACTCGTGGACC -3'

Sequencing Primer
(F):5'- TCTGGTCTCAGGAAAGCCAGG -3'
(R):5'- TAACTCGTGGACCAGTGATTAG -3'

Posted On

2016-12-15