Mutagenetix > Incidental Mutation

Incidental Mutation 'R4867:Cdk5rap1'

ID

376206

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap1

Ensembl Gene

ENSMUSG00000027487

Gene Name

CDK5 regulatory subunit associated protein 1

Synonyms

2310066P17Rik

MMRRC Submission

042477-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

2

Chromosomal Location

154177300-154214930 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 154212876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028990] [ENSMUST00000028990] [ENSMUST00000028990] [ENSMUST00000109730] [ENSMUST00000109730] [ENSMUST00000109730] [ENSMUST00000109731] [ENSMUST00000109731] [ENSMUST00000109731] [ENSMUST00000109731] [ENSMUST00000109731] [ENSMUST00000109731]

Predicted Effect

probably null
Transcript: ENSMUST00000028990

SMART Domains

Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	3.2e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1.2e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000028990

SMART Domains

Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	3.2e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1.2e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000028990

SMART Domains

Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	3.2e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1.2e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109730

SMART Domains

Protein: ENSMUSP00000105352
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	181	1.3e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109730

SMART Domains

Protein: ENSMUSP00000105352
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	181	1.3e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109730

SMART Domains

Protein: ENSMUSP00000105352
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	181	1.3e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109731

SMART Domains

Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	1.1e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109731

SMART Domains

Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	1.1e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109731

SMART Domains

Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	1.1e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109731

SMART Domains

Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	1.1e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109731

SMART Domains

Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	1.1e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109731

SMART Domains

Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	1.1e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150308

Meta Mutation Damage Score

0.9755

question?

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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 cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a null allele show deficient mitochondrial tRNA modification, reduced mitochondrial protein synthesis, defects in oxidative phosphorylation, high susceptibility to stress-induced mitochondrial remodeling, and accelerated myopathy and cardiac dysfunction under stressed conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,099 (GRCm39)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,314,742 (GRCm39)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,839,375 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,093,205 (GRCm39)	V1023F	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acsbg2	A	G	17: 57,169,914 (GRCm39)	I151T	possibly damaging	Het
Arid1a	G	A	4: 133,448,168 (GRCm39)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,759,252 (GRCm39)	D344G	probably damaging	Het
Ccdc40	T	C	11: 119,122,614 (GRCm39)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,474,055 (GRCm39)	V210A	possibly damaging	Het
Cfhr4	A	T	1: 139,702,213 (GRCm39)		probably null	Het
Cog4	T	C	8: 111,593,242 (GRCm39)	V451A	probably damaging	Het
Crb1	A	T	1: 139,170,752 (GRCm39)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,855,164 (GRCm39)	D152G	probably damaging	Het
Cse1l	T	A	2: 166,768,323 (GRCm39)	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,303,815 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,947,235 (GRCm39)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,769,724 (GRCm39)	F445L	possibly damaging	Het
Dlc1	T	C	8: 37,051,799 (GRCm39)	H644R	probably benign	Het
Ecm2	A	T	13: 49,684,821 (GRCm39)	I643F	probably damaging	Het
Eogt	A	T	6: 97,097,108 (GRCm39)		probably benign	Het
Fbxo41	A	C	6: 85,452,176 (GRCm39)	S777A	probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Flt3	A	T	5: 147,271,250 (GRCm39)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,414,465 (GRCm39)		probably null	Het
Frem3	T	C	8: 81,339,912 (GRCm39)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,654,356 (GRCm39)	D344E	probably benign	Het
Gtf3a	C	T	5: 146,888,723 (GRCm39)	Q145*	probably null	Het
Il36rn	A	T	2: 24,170,847 (GRCm39)	N48I	probably damaging	Het
Iqca1	A	G	1: 90,017,226 (GRCm39)	L403S	probably benign	Het
Jrk	C	T	15: 74,579,069 (GRCm39)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Krt12	T	C	11: 99,307,789 (GRCm39)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,670,770 (GRCm39)	S127R	unknown	Het
Lrrc7	T	G	3: 157,866,642 (GRCm39)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,365,993 (GRCm39)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,495,320 (GRCm39)		probably null	Het
Mki67	T	C	7: 135,301,585 (GRCm39)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,946 (GRCm39)	I291M	possibly damaging	Het
Or13g1	T	C	7: 85,955,491 (GRCm39)	T277A	probably benign	Het
Or1j12	A	C	2: 36,343,211 (GRCm39)	M205L	probably benign	Het
Or2r2	A	G	6: 42,464,031 (GRCm39)	V32A	probably benign	Het
Or6e1	T	A	14: 54,520,086 (GRCm39)	T89S	probably benign	Het
Or7g17	A	T	9: 18,768,862 (GRCm39)	I305F	probably benign	Het
Parp14	T	A	16: 35,677,697 (GRCm39)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,709,113 (GRCm39)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,620,726 (GRCm39)	S849P	probably benign	Het
Pds5a	T	C	5: 65,801,463 (GRCm39)	K595E	probably damaging	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Prr5	G	T	15: 84,624,967 (GRCm39)	L46F	probably benign	Het
Ptgdr	G	T	14: 45,096,253 (GRCm39)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm39)	S555P	probably damaging	Het
Rhog	T	G	7: 101,889,357 (GRCm39)	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,415,975 (GRCm39)	T209A	probably damaging	Het
Rtkn2	T	C	10: 67,837,757 (GRCm39)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,379,737 (GRCm39)	C182*	probably null	Het
Sema3a	A	G	5: 13,501,208 (GRCm39)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,436 (GRCm39)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,040,301 (GRCm39)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,882,608 (GRCm39)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Ston1	C	T	17: 88,943,122 (GRCm39)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,357,976 (GRCm39)	S3P	probably benign	Het
Tango6	T	A	8: 107,545,158 (GRCm39)	V1007E	probably damaging	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tas2r124	A	G	6: 132,732,156 (GRCm39)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,688,856 (GRCm39)	R2244W	probably damaging	Het
Thoc2l	T	C	5: 104,668,868 (GRCm39)	I1130T	possibly damaging	Het
Tlk1	A	T	2: 70,551,915 (GRCm39)	Y585*	probably null	Het
Tmem221	C	T	8: 72,007,784 (GRCm39)	E214K	probably benign	Het
Tmem38a	T	C	8: 73,335,077 (GRCm39)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,755,705 (GRCm39)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,255,374 (GRCm39)	A1268T	probably damaging	Het
Usp25	T	A	16: 76,847,355 (GRCm39)	D154E	probably damaging	Het
Usp34	T	C	11: 23,401,999 (GRCm39)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,083,939 (GRCm39)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,933,421 (GRCm39)	C32W	probably damaging	Het
Zfp931	T	A	2: 177,709,855 (GRCm39)	H177L	probably damaging	Het
Znrf1	T	C	8: 112,264,198 (GRCm39)		probably null	Het

Other mutations in Cdk5rap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Cdk5rap1	APN	2	154,207,956 (GRCm39)	missense	probably damaging	1.00
IGL02162:Cdk5rap1	APN	2	154,177,489 (GRCm39)	missense	probably damaging	0.98
IGL02626:Cdk5rap1	APN	2	154,207,880 (GRCm39)	critical splice donor site	probably null
IGL03278:Cdk5rap1	APN	2	154,212,622 (GRCm39)	missense	probably benign	0.00
R1052:Cdk5rap1	UTSW	2	154,202,519 (GRCm39)	missense	possibly damaging	0.96
R1333:Cdk5rap1	UTSW	2	154,202,574 (GRCm39)	missense	probably damaging	0.97
R1552:Cdk5rap1	UTSW	2	154,212,615 (GRCm39)	missense	probably benign	0.00
R1553:Cdk5rap1	UTSW	2	154,194,171 (GRCm39)	missense	probably damaging	1.00
R2107:Cdk5rap1	UTSW	2	154,195,166 (GRCm39)	missense	probably benign	0.22
R3946:Cdk5rap1	UTSW	2	154,190,636 (GRCm39)	missense	probably damaging	1.00
R4126:Cdk5rap1	UTSW	2	154,210,815 (GRCm39)	missense	probably damaging	1.00
R4715:Cdk5rap1	UTSW	2	154,203,755 (GRCm39)	makesense	probably null
R4865:Cdk5rap1	UTSW	2	154,212,876 (GRCm39)	critical splice acceptor site	probably null
R4866:Cdk5rap1	UTSW	2	154,212,876 (GRCm39)	critical splice acceptor site	probably null
R4946:Cdk5rap1	UTSW	2	154,210,794 (GRCm39)	missense	possibly damaging	0.91
R5087:Cdk5rap1	UTSW	2	154,184,315 (GRCm39)	missense	probably damaging	1.00
R5319:Cdk5rap1	UTSW	2	154,177,489 (GRCm39)	missense	possibly damaging	0.62
R5383:Cdk5rap1	UTSW	2	154,192,755 (GRCm39)	missense	possibly damaging	0.78
R5582:Cdk5rap1	UTSW	2	154,187,894 (GRCm39)	missense	probably benign	0.01
R5780:Cdk5rap1	UTSW	2	154,187,788 (GRCm39)	frame shift	probably null
R6262:Cdk5rap1	UTSW	2	154,212,606 (GRCm39)	missense	probably benign	0.04
R6274:Cdk5rap1	UTSW	2	154,210,161 (GRCm39)	missense	probably damaging	0.99
R7263:Cdk5rap1	UTSW	2	154,202,652 (GRCm39)	missense	probably benign	0.12
R7388:Cdk5rap1	UTSW	2	154,202,595 (GRCm39)	missense	probably damaging	1.00
R7650:Cdk5rap1	UTSW	2	154,196,036 (GRCm39)	missense	probably benign	0.01
R8424:Cdk5rap1	UTSW	2	154,187,932 (GRCm39)	missense	probably damaging	1.00
R8694:Cdk5rap1	UTSW	2	154,195,148 (GRCm39)	nonsense	probably null
R9295:Cdk5rap1	UTSW	2	154,194,186 (GRCm39)	missense	probably damaging	1.00
R9413:Cdk5rap1	UTSW	2	154,207,880 (GRCm39)	critical splice donor site	probably null
R9453:Cdk5rap1	UTSW	2	154,190,585 (GRCm39)	missense	probably damaging	1.00
R9466:Cdk5rap1	UTSW	2	154,192,756 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- GCTGAAGTCCTTCTGAGCTTC -3'
(R):5'- TGGAGGTCAGTATGGACTTCATAG -3'

Sequencing Primer
(F):5'- GAAGTCCTTCTGAGCTTCTGAGC -3'
(R):5'- CCTGGACTACGTAGGAAGTTG -3'

Posted On

2016-03-17