Mutagenetix > Incidental Mutation

Incidental Mutation 'R6141:Pcp2'

488580

Institutional Source

Beutler Lab

Gene Symbol

Pcp2

Ensembl Gene

ENSMUSG00000004630

Gene Name

Purkinje cell protein 2 (L7)

Synonyms

Pcp-2, L7

MMRRC Submission

044288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3673371-3675545 bp(-) (GRCm39)

Type of Mutation

splice site (171 bp from exon)

DNA Base Change (assembly)

G to A at 3673543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004749] [ENSMUST00000019614] [ENSMUST00000128566] [ENSMUST00000133459] [ENSMUST00000136105] [ENSMUST00000142431] [ENSMUST00000144977] [ENSMUST00000208950] [ENSMUST00000207389] [ENSMUST00000207428] [ENSMUST00000159235] [ENSMUST00000156380]

AlphaFold

P12660

Predicted Effect

probably null
Transcript: ENSMUST00000004749
AA Change: R66*

SMART Domains

Protein: ENSMUSP00000004749
Gene: ENSMUSG00000004630
AA Change: R66*

Domain	Start	End	E-Value	Type
GoLoco	26	48	4.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019614

SMART Domains

Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470

Domain	Start	End	E-Value	Type
HAT	48	80	7.56e0	SMART
HAT	93	122	1.92e2	SMART
HAT	124	158	4.89e-2	SMART
HAT	270	305	3.82e-4	SMART
low complexity region	316	333	N/A	INTRINSIC
HAT	409	445	1.88e1	SMART
HAT	447	496	2.32e2	SMART
HAT	498	530	1.56e1	SMART
HAT	532	566	5.84e0	SMART
HAT	571	605	3.62e-5	SMART
Blast:HAT	607	641	3e-14	BLAST
Blast:HAT	643	677	2e-15	BLAST
HAT	679	713	2.77e-1	SMART
low complexity region	771	785	N/A	INTRINSIC
low complexity region	823	836	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128566

Predicted Effect

probably null
Transcript: ENSMUST00000133459
AA Change: R87*

SMART Domains

Protein: ENSMUSP00000122902
Gene: ENSMUSG00000004630
AA Change: R87*

Domain	Start	End	E-Value	Type
GoLoco	7	29	3.29e-6	SMART
GoLoco	47	69	4.47e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000136105
AA Change: R103*

SMART Domains

Protein: ENSMUSP00000121079
Gene: ENSMUSG00000004630
AA Change: R103*

Domain	Start	End	E-Value	Type
GoLoco	23	45	3.29e-6	SMART
GoLoco	63	85	4.47e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000142431
AA Change: R66*

SMART Domains

Protein: ENSMUSP00000121403
Gene: ENSMUSG00000004630
AA Change: R66*

Domain	Start	End	E-Value	Type
GoLoco	26	48	4.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144977

Predicted Effect

probably benign
Transcript: ENSMUST00000208950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208185

Predicted Effect

probably null
Transcript: ENSMUST00000207389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163038

Predicted Effect

probably benign
Transcript: ENSMUST00000207428

Predicted Effect

probably benign
Transcript: ENSMUST00000159235

SMART Domains

Protein: ENSMUSP00000124237
Gene: ENSMUSG00000019470

Domain	Start	End	E-Value	Type
Blast:HAT	12	47	2e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159548

SMART Domains

Protein: ENSMUSP00000124202
Gene: ENSMUSG00000019470

Domain	Start	End	E-Value	Type
Blast:HAT	10	44	4e-12	BLAST
HAT	46	78	7.56e0	SMART
HAT	91	120	1.92e2	SMART
HAT	122	156	4.89e-2	SMART
Blast:HAT	157	190	4e-12	BLAST
Pfam:TPR_2	243	272	2.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156380

SMART Domains

Protein: ENSMUSP00000137626
Gene: ENSMUSG00000087687

Domain	Start	End	E-Value	Type
Pfam:DUF2346	1	72	2.2e-31	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation do not exhibit any detectable abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	A	T	7: 42,097,483 (GRCm39)	C4S	probably damaging	Het
Abhd5	A	T	9: 122,206,998 (GRCm39)	T95S	probably benign	Het
Ambra1	A	T	2: 91,706,099 (GRCm39)	N795Y	probably damaging	Het
Brca2	A	G	5: 150,464,102 (GRCm39)	N1289D	possibly damaging	Het
Cavin2	T	C	1: 51,340,097 (GRCm39)	L258P	probably damaging	Het
Ccdc110	A	G	8: 46,394,807 (GRCm39)	T233A	possibly damaging	Het
Ccdc14	T	A	16: 34,526,932 (GRCm39)	I279N	probably damaging	Het
Cntn5	A	T	9: 10,144,162 (GRCm39)	L169Q	probably benign	Het
Dbf4	T	C	5: 8,458,545 (GRCm39)	S157G	possibly damaging	Het
Defb22	A	T	2: 152,327,722 (GRCm39)	N154K	unknown	Het
Eepd1	T	A	9: 25,394,280 (GRCm39)	D181E	probably benign	Het
Etfa	T	C	9: 55,372,103 (GRCm39)	H286R	probably damaging	Het
Gm44419	T	A	6: 65,127,940 (GRCm39)		noncoding transcript	Het
Gpatch4	C	T	3: 87,962,047 (GRCm39)	R155*	probably null	Het
Grik1	T	G	16: 87,693,760 (GRCm39)	R862S	probably benign	Het
Hectd1	A	C	12: 51,792,875 (GRCm39)		probably null	Het
Ift122	T	C	6: 115,892,972 (GRCm39)	W919R	probably damaging	Het
Iqgap2	A	T	13: 95,858,194 (GRCm39)		probably null	Het
Kcnq4	A	T	4: 120,573,066 (GRCm39)	I245N	probably damaging	Het
Map3k3	G	T	11: 105,987,874 (GRCm39)	R21L	probably benign	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Msr1	A	T	8: 40,084,360 (GRCm39)	V65E	probably damaging	Het
Myom2	A	T	8: 15,113,903 (GRCm39)	D17V	probably damaging	Het
Naaladl1	T	A	19: 6,159,785 (GRCm39)		probably null	Het
Naip6	T	C	13: 100,444,741 (GRCm39)	Y239C	possibly damaging	Het
Nckap1	C	A	2: 80,360,551 (GRCm39)	D533Y	probably damaging	Het
Ndufs2	T	C	1: 171,064,185 (GRCm39)	E375G	probably damaging	Het
Nsd1	T	C	13: 55,439,097 (GRCm39)	V1605A	probably damaging	Het
Or4k42	A	G	2: 111,320,464 (GRCm39)	I13T	probably benign	Het
Or52ae9	C	A	7: 103,389,994 (GRCm39)	R151L	probably damaging	Het
Or5ac17	T	A	16: 59,036,916 (GRCm39)	H20L	probably benign	Het
Or5b114-ps1	A	T	19: 13,352,647 (GRCm39)	Y107F	probably benign	Het
Or7e176	T	A	9: 20,171,754 (GRCm39)	M206K	probably benign	Het
Pdgfra	A	G	5: 75,334,057 (GRCm39)	S377G	probably damaging	Het
Reep5	A	T	18: 34,505,511 (GRCm39)	Y53*	probably null	Het
Ric1	T	C	19: 29,572,842 (GRCm39)	S761P	probably damaging	Het
Satb1	T	C	17: 52,082,404 (GRCm39)	T417A	possibly damaging	Het
Slc1a7	T	A	4: 107,859,379 (GRCm39)	M156K	possibly damaging	Het
Slc4a10	A	G	2: 62,041,789 (GRCm39)	E123G	probably damaging	Het
Slc66a1	A	G	4: 139,027,556 (GRCm39)	V262A	probably benign	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
Stard13	A	T	5: 150,965,707 (GRCm39)	V916E	probably damaging	Het
Tlr1	T	C	5: 65,082,556 (GRCm39)	R674G	possibly damaging	Het
Tnfsf11	A	G	14: 78,545,299 (GRCm39)	Y11H	probably damaging	Het
Tnr	T	A	1: 159,714,692 (GRCm39)	V857E	probably benign	Het
Tubgcp5	A	G	7: 55,456,526 (GRCm39)	I373V	probably benign	Het
Ush2a	A	T	1: 188,090,160 (GRCm39)	R414S	possibly damaging	Het
Vmn2r100	T	C	17: 19,742,576 (GRCm39)	S317P	probably benign	Het
Wdr49	A	T	3: 75,230,989 (GRCm39)	F558I	probably benign	Het
Zfyve16	A	G	13: 92,648,105 (GRCm39)	I983T	probably benign	Het

Other mutations in Pcp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1907:Pcp2	UTSW	8	3,674,904 (GRCm39)	intron	probably benign
R4916:Pcp2	UTSW	8	3,675,534 (GRCm39)	utr 3 prime	probably benign
R6328:Pcp2	UTSW	8	3,674,887 (GRCm39)	missense	probably damaging	0.99
R8886:Pcp2	UTSW	8	3,675,208 (GRCm39)	critical splice donor site	probably null
R9112:Pcp2	UTSW	8	3,674,638 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCTTTGTTGCTAGTGCCAAGTG -3'
(R):5'- ATGTTTAGAGCTCCGGGCAC -3'

Sequencing Primer
(F):5'- AGTGCCAAGTGTTTTATTGTTTTCAG -3'
(R):5'- CAGGTAGATCAGGCTCTCTAGCTAG -3'

Posted On

2017-10-10