Mutagenetix > Incidental Mutation

Incidental Mutation 'R5383:Cdk5rap1'

424831

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap1

Ensembl Gene

ENSMUSG00000027487

Gene Name

CDK5 regulatory subunit associated protein 1

Synonyms

2310066P17Rik

MMRRC Submission

042958-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R5383 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154177300-154214930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 154192755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 414 (V414D)

Ref Sequence

ENSEMBL: ENSMUSP00000105353 (fasta)

Gene Model

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

AlphaFold

Q8BTW8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028990
AA Change: V414D

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487
AA Change: V414D

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

possibly damaging
Transcript: ENSMUST00000109731
AA Change: V414D

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487
AA Change: V414D

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: ENSMUST00000148289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152180

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,211,532 (GRCm39)	Y227F	possibly damaging	Het
Aadac	T	C	3: 59,943,496 (GRCm39)		probably benign	Het
Abl2	G	A	1: 156,469,802 (GRCm39)	G918E	possibly damaging	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Adck1	T	C	12: 88,422,373 (GRCm39)	V328A	probably benign	Het
Ano6	A	G	15: 95,813,918 (GRCm39)	I279V	probably benign	Het
AW551984	T	A	9: 39,501,994 (GRCm39)	Y704F	probably benign	Het
C1s1	T	C	6: 124,511,360 (GRCm39)	D321G	probably damaging	Het
Cacna1d	T	A	14: 29,767,236 (GRCm39)	D1910V	possibly damaging	Het
Cdh5	A	G	8: 104,864,479 (GRCm39)	Q480R	probably benign	Het
Cdhr1	C	T	14: 36,810,964 (GRCm39)	V266M	possibly damaging	Het
Ctdnep1	T	A	11: 69,875,222 (GRCm39)		probably benign	Het
Cyfip2	T	C	11: 46,168,918 (GRCm39)	M212V	possibly damaging	Het
D130043K22Rik	G	A	13: 25,041,397 (GRCm39)	S273N	probably benign	Het
Ddi2	A	G	4: 141,412,163 (GRCm39)	S250P	probably damaging	Het
Dennd1b	A	G	1: 139,095,409 (GRCm39)	T486A	probably benign	Het
Disc1	A	G	8: 125,862,196 (GRCm39)	T523A	probably damaging	Het
Dmbx1	A	G	4: 115,775,342 (GRCm39)	S313P	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnah11	T	C	12: 118,049,432 (GRCm39)	E1664G	probably damaging	Het
Dpysl3	A	T	18: 43,571,103 (GRCm39)	V57E	probably damaging	Het
Fam98a	C	T	17: 75,845,576 (GRCm39)	G390E	unknown	Het
Hook3	C	A	8: 26,609,017 (GRCm39)	R9L	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Impg2	A	G	16: 56,063,989 (GRCm39)	D298G	probably benign	Het
Inf2	T	A	12: 112,566,579 (GRCm39)	V48D	probably damaging	Het
Itprid1	T	A	6: 55,955,275 (GRCm39)	L961H	probably benign	Het
Kcnh1	G	A	1: 192,187,999 (GRCm39)	G820D	probably benign	Het
Lsm14a	C	T	7: 34,088,789 (GRCm39)	A39T	possibly damaging	Het
Muc2	T	C	7: 141,307,456 (GRCm39)	C804R	probably damaging	Het
Nim1k	C	T	13: 120,189,335 (GRCm39)	V25M	probably benign	Het
Or11g25	T	A	14: 50,723,509 (GRCm39)	L198*	probably null	Het
Or4a73	T	C	2: 89,421,457 (GRCm39)	M1V	probably null	Het
Or5b122	T	A	19: 13,563,439 (GRCm39)	M257K	probably damaging	Het
Or6c68	A	G	10: 129,158,205 (GRCm39)	T238A	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,231 (GRCm39)	D857G	probably benign	Het
Pitrm1	T	A	13: 6,627,468 (GRCm39)	H856Q	probably damaging	Het
Pkd1	T	C	17: 24,793,349 (GRCm39)	C1679R	probably benign	Het
Pkp4	T	A	2: 59,140,617 (GRCm39)	L441*	probably null	Het
Ppp4r4	T	C	12: 103,550,427 (GRCm39)	F284L	probably benign	Het
Ptprt	T	A	2: 161,539,969 (GRCm39)	K769M	probably damaging	Het
Rbm12	G	T	2: 155,945,285 (GRCm39)		probably benign	Het
Rpf1	T	C	3: 146,225,146 (GRCm39)	D94G	possibly damaging	Het
Scap	G	T	9: 110,203,597 (GRCm39)	K310N	probably damaging	Het
Smpd2	C	T	10: 41,364,698 (GRCm39)		probably benign	Het
Sp110	TC	TCC	1: 85,519,290 (GRCm39)		probably null	Het
Specc1l	T	A	10: 75,082,539 (GRCm39)	I662N	possibly damaging	Het
Sptan1	T	A	2: 29,901,340 (GRCm39)	V1496D	probably damaging	Het
Srrm4	T	C	5: 116,609,319 (GRCm39)		probably benign	Het
Taf2	A	G	15: 54,912,815 (GRCm39)	I515T	possibly damaging	Het
Tdrd3	C	T	14: 87,718,227 (GRCm39)	Q203*	probably null	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Tmem43	G	A	6: 91,450,872 (GRCm39)	A2T	probably benign	Het
Trav9-1	T	A	14: 53,725,833 (GRCm39)	I49N	probably benign	Het
Trim23	T	G	13: 104,335,205 (GRCm39)	N410K	probably damaging	Het
Ttbk1	T	C	17: 46,778,342 (GRCm39)	T567A	probably damaging	Het
Unc79	A	G	12: 103,070,886 (GRCm39)	N1081S	possibly damaging	Het
Zfp451	A	C	1: 33,852,887 (GRCm39)	I9R	probably damaging	Het
Zfp563	T	A	17: 33,323,681 (GRCm39)	M92K	probably benign	Het
Zfp618	G	A	4: 63,013,729 (GRCm39)	G198D	probably benign	Het
Zfp637	G	T	6: 117,820,270 (GRCm39)		probably benign	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
R4867: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
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'- GTCAGGCATGAGCAACACAC -3'
(R):5'- TCCTATGATGCTAGCAGTTGG -3'

Sequencing Primer
(F):5'- GGCATGAGCAACACACACAGAATC -3'
(R):5'- CTAGCAGTTGGGAGGTAGAGCC -3'

Posted On

2016-08-04