Mutagenetix > Incidental Mutation

Incidental Mutation 'R7388:Cdk5rap1'

573237

Institutional Source

Beutler Lab

Gene Symbol

Cdk5rap1

Ensembl Gene

ENSMUSG00000027487

Gene Name

CDK5 regulatory subunit associated protein 1

Synonyms

2310066P17Rik

MMRRC Submission

045470-MU

Accession Numbers

Essential gene?

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

Stock #

R7388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154177300-154214930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 154202595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 212 (R212W)

Ref Sequence

ENSEMBL: ENSMUSP00000028990 (fasta)

Gene Model

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

AlphaFold

Q8BTW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028990
AA Change: R212W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487
AA Change: R212W

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 benign
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 damaging
Transcript: ENSMUST00000109731
AA Change: R212W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487
AA Change: R212W

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	T	C	18: 67,556,023 (GRCm39)	E436G	probably damaging	Het
Agbl5	T	A	5: 31,060,583 (GRCm39)	L759*	probably null	Het
Ankrd13b	T	C	11: 77,363,583 (GRCm39)	D460G	probably benign	Het
Apol10a	A	G	15: 77,373,225 (GRCm39)	D287G	possibly damaging	Het
Arhgap44	A	T	11: 64,915,094 (GRCm39)	Y391*	probably null	Het
Asz1	G	T	6: 18,074,900 (GRCm39)	S271R	probably benign	Het
AW554918	A	G	18: 25,473,170 (GRCm39)	N325D	probably benign	Het
Brinp2	A	T	1: 158,082,579 (GRCm39)	L247Q	probably damaging	Het
Casz1	A	G	4: 149,036,850 (GRCm39)	D1704G	unknown	Het
Cdkl2	T	A	5: 92,167,318 (GRCm39)	T444S	probably benign	Het
Cers2	T	G	3: 95,228,656 (GRCm39)	F160V	probably benign	Het
Cfap276	T	C	3: 108,450,815 (GRCm39)	F86L	possibly damaging	Het
Cga	T	A	4: 34,907,076 (GRCm39)	M99K	probably benign	Het
Cspp1	C	T	1: 10,135,572 (GRCm39)	R138*	probably null	Het
Dao	T	G	5: 114,153,273 (GRCm39)	*133E	probably null	Het
Ddx1	A	T	12: 13,275,456 (GRCm39)	C544S	probably null	Het
Dgkq	A	T	5: 108,806,112 (GRCm39)	V98E	probably damaging	Het
Dnah6	T	A	6: 73,169,300 (GRCm39)	T434S	possibly damaging	Het
Dntt	A	G	19: 41,027,418 (GRCm39)	N162D	probably benign	Het
Dpysl5	T	C	5: 30,902,805 (GRCm39)	V79A	probably benign	Het
Efcab3	T	C	11: 104,611,871 (GRCm39)	L571P	probably damaging	Het
Ep300	T	C	15: 81,532,567 (GRCm39)	C1602R	unknown	Het
Flrt3	C	T	2: 140,503,672 (GRCm39)		probably null	Het
Gk2	A	G	5: 97,604,757 (GRCm39)	V27A	probably damaging	Het
Gnpat	T	G	8: 125,614,553 (GRCm39)	M663R	probably benign	Het
Hc	A	T	2: 34,874,859 (GRCm39)		probably null	Het
Il12rb1	A	G	8: 71,263,271 (GRCm39)	Y67C	probably damaging	Het
Ints15	G	A	5: 143,297,600 (GRCm39)	A149V	probably benign	Het
Kmt2b	C	T	7: 30,281,385 (GRCm39)	D1229N	probably damaging	Het
Lamc1	T	C	1: 153,124,822 (GRCm39)	T650A	probably damaging	Het
Lrp1	G	A	10: 127,419,766 (GRCm39)	R948*	probably null	Het
Map3k21	T	C	8: 126,654,336 (GRCm39)	I385T	probably damaging	Het
Mmrn1	T	A	6: 60,953,236 (GRCm39)	S506T	probably benign	Het
Nlrp1a	A	G	11: 71,014,023 (GRCm39)	F409S	probably damaging	Het
Nlrp3	T	A	11: 59,455,892 (GRCm39)	I896N	probably benign	Het
Noxred1	C	A	12: 87,273,799 (GRCm39)	V81L	probably damaging	Het
Nrcam	A	T	12: 44,645,272 (GRCm39)	I1225F	probably damaging	Het
Or2z2	C	T	11: 58,346,481 (GRCm39)	C98Y	probably damaging	Het
Otos	T	A	1: 92,572,241 (GRCm39)		probably null	Het
Pcdh20	A	G	14: 88,706,103 (GRCm39)	I399T	probably benign	Het
Pkhd1	C	T	1: 20,309,528 (GRCm39)	V2807I	not run	Het
Prrx2	A	G	2: 30,770,902 (GRCm39)	E235G	probably damaging	Het
Rab13	T	C	3: 90,128,327 (GRCm39)	I41T	probably damaging	Het
Rai1	A	C	11: 60,080,201 (GRCm39)	T1422P	possibly damaging	Het
Rcn1	C	T	2: 105,222,336 (GRCm39)	V217M	probably damaging	Het
Scn2a	T	A	2: 65,518,998 (GRCm39)	V408E	probably damaging	Het
Sec16a	C	T	2: 26,318,376 (GRCm39)	A121T		Het
Slc35d1	A	G	4: 103,046,982 (GRCm39)		probably null	Het
Slc39a6	A	T	18: 24,717,106 (GRCm39)	V642E	probably damaging	Het
Slc6a19	G	A	13: 73,841,203 (GRCm39)	A69V	probably benign	Het
Spink6	A	T	18: 44,215,386 (GRCm39)	T79S	probably damaging	Het
Spire1	T	C	18: 67,652,950 (GRCm39)	D170G	probably damaging	Het
Sugp1	T	C	8: 70,505,269 (GRCm39)	S79P	probably damaging	Het
Syne3	A	G	12: 104,934,167 (GRCm39)	Y201H	probably damaging	Het
Tbc1d10a	T	C	11: 4,155,858 (GRCm39)		probably null	Het
Tmem14a	C	T	1: 21,299,735 (GRCm39)	Q122*	probably null	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trmt61a	A	G	12: 111,645,321 (GRCm39)	I86V	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,447 (GRCm39)		probably null	Het
Vmn1r79	T	A	7: 11,910,668 (GRCm39)	Y183*	probably null	Het
Vmn2r11	A	T	5: 109,202,742 (GRCm39)	W112R	probably benign	Het
Vpreb1a	T	C	16: 16,686,516 (GRCm39)	K125E	probably benign	Het
Wdr6	A	T	9: 108,451,971 (GRCm39)	F637L	probably damaging	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
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
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'- GCAAGCATATACTATCGCAGC -3'
(R):5'- GCAGTTATAAATCATGTGCACTGAGC -3'

Sequencing Primer
(F):5'- GCTACTTAGAGAAACCCTGTCTGG -3'
(R):5'- GCACTGAGCAAAAGCCAG -3'

Posted On

2019-09-13