Mutagenetix > Incidental Mutation

Incidental Mutation 'R7328:Pcp4l1'

569031

Institutional Source

Beutler Lab

Gene Symbol

Pcp4l1

Ensembl Gene

ENSMUSG00000038370

Gene Name

Purkinje cell protein 4-like 1

Synonyms

1500036F01Rik

MMRRC Submission

045421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

171000833-171023837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 171002034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 42 (A42V)

Ref Sequence

ENSEMBL: ENSMUSP00000106964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111332]

AlphaFold

Q6W8Q3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111332
AA Change: A42V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106964
Gene: ENSMUSG00000038370
AA Change: A42V

Domain	Start	End	E-Value	Type
low complexity region	31	39	N/A	INTRINSIC
low complexity region	55	64	N/A	INTRINSIC

Meta Mutation Damage Score

0.0870

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	G	11: 72,060,606 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,241,545 (GRCm39)	V1136E	probably benign	Het
Arl4c	C	A	1: 88,629,239 (GRCm39)	E50*	probably null	Het
Atxn7l1	T	C	12: 33,198,502 (GRCm39)		probably null	Het
Ctdsp1	A	T	1: 74,433,199 (GRCm39)	I115F	probably damaging	Het
Cyp2j5	A	G	4: 96,551,450 (GRCm39)	V91A	probably damaging	Het
Dscam	T	A	16: 96,446,235 (GRCm39)	K1469*	probably null	Het
Elf2	A	G	3: 51,174,198 (GRCm39)	C110R	probably damaging	Het
Ephb1	A	G	9: 102,072,438 (GRCm39)	Y114H	probably damaging	Het
Ephb2	C	T	4: 136,386,245 (GRCm39)		probably null	Het
Fbxw20	C	A	9: 109,061,383 (GRCm39)	C122F	probably damaging	Het
Flnb	T	C	14: 7,883,788 (GRCm38)	I338T	possibly damaging	Het
Flnb	T	A	14: 7,894,660 (GRCm38)	Y819*	probably null	Het
Foxo3	A	T	10: 42,073,258 (GRCm39)	S420T	probably benign	Het
Herpud1	T	C	8: 95,113,248 (GRCm39)	V10A	possibly damaging	Het
Hmcn1	A	T	1: 150,514,617 (GRCm39)	V3585E	possibly damaging	Het
Hsdl1	T	C	8: 120,292,830 (GRCm39)	T202A	probably benign	Het
Htr1d	G	A	4: 136,170,614 (GRCm39)	S281N	probably benign	Het
Igkv14-111	T	A	6: 68,233,709 (GRCm39)	I70N	probably damaging	Het
Igkv8-34	A	G	6: 70,021,328 (GRCm39)	S45P	probably damaging	Het
Inha	T	C	1: 75,486,760 (GRCm39)	Y352H	probably damaging	Het
Lats1	A	T	10: 7,581,311 (GRCm39)	M699L	possibly damaging	Het
Marchf9	T	C	10: 126,894,165 (GRCm39)	E146G	probably damaging	Het
Mcm8	T	C	2: 132,674,777 (GRCm39)	V443A	probably benign	Het
Melk	A	T	4: 44,332,931 (GRCm39)	S296C	probably benign	Het
Myo18a	T	C	11: 77,698,737 (GRCm39)	S4P		Het
Myof	T	C	19: 37,904,847 (GRCm39)	Y1646C	probably damaging	Het
Noc4l	C	A	5: 110,796,789 (GRCm39)	A498S	possibly damaging	Het
Nrxn3	T	C	12: 88,762,345 (GRCm39)	S131P	probably benign	Het
Or5ae2	T	C	7: 84,506,507 (GRCm39)	I312T	probably benign	Het
Or5ak23	A	G	2: 85,244,668 (GRCm39)	I185T	probably benign	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or8g23	T	C	9: 38,971,857 (GRCm39)	Y35C	probably damaging	Het
Phldb2	T	A	16: 45,578,572 (GRCm39)		probably null	Het
Polr2b	C	T	5: 77,463,846 (GRCm39)	P81L	probably damaging	Het
Rbfa	C	A	18: 80,236,454 (GRCm39)	G215C	probably benign	Het
Rdh19	T	C	10: 127,692,896 (GRCm39)	S188P	probably damaging	Het
Scn9a	T	C	2: 66,314,931 (GRCm39)	M1596V	probably benign	Het
Sele	A	T	1: 163,876,844 (GRCm39)	Y40F	probably benign	Het
Setd1b	T	A	5: 123,290,442 (GRCm39)	V803D	unknown	Het
Siglecf	C	T	7: 43,001,691 (GRCm39)	T167I	possibly damaging	Het
Slc39a6	T	C	18: 24,733,987 (GRCm39)	E234G	probably benign	Het
Slco1a1	T	A	6: 141,882,134 (GRCm39)	D145V	possibly damaging	Het
Son	G	A	16: 91,455,278 (GRCm39)	V1342I	probably benign	Het
Sybu	G	A	15: 44,651,190 (GRCm39)	P38L	not run	Het
Taf15	C	T	11: 83,375,658 (GRCm39)	T41M	possibly damaging	Het
Tm4sf4	A	T	3: 57,333,925 (GRCm39)	N71Y	probably benign	Het
Tm7sf2	C	T	19: 6,114,156 (GRCm39)	V226I	possibly damaging	Het
Trim66	C	A	7: 109,056,958 (GRCm39)	Q1066H	probably damaging	Het
Tyw1	T	C	5: 130,291,685 (GRCm39)	V51A	probably benign	Het
Vav3	A	T	3: 109,410,744 (GRCm39)	I192L	probably benign	Het

Other mutations in Pcp4l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02543:Pcp4l1	APN	1	171,003,133 (GRCm39)	splice site	probably benign
R2101:Pcp4l1	UTSW	1	171,003,174 (GRCm39)	missense	probably damaging	0.99
R6472:Pcp4l1	UTSW	1	171,002,004 (GRCm39)	missense	possibly damaging	0.83
R6943:Pcp4l1	UTSW	1	171,002,022 (GRCm39)	missense	possibly damaging	0.82
R7320:Pcp4l1	UTSW	1	171,002,034 (GRCm39)	missense	possibly damaging	0.90
R7322:Pcp4l1	UTSW	1	171,002,034 (GRCm39)	missense	possibly damaging	0.90
R7324:Pcp4l1	UTSW	1	171,002,034 (GRCm39)	missense	possibly damaging	0.90
R7325:Pcp4l1	UTSW	1	171,002,034 (GRCm39)	missense	possibly damaging	0.90
R7326:Pcp4l1	UTSW	1	171,002,034 (GRCm39)	missense	possibly damaging	0.90
R7327:Pcp4l1	UTSW	1	171,002,034 (GRCm39)	missense	possibly damaging	0.90
R9269:Pcp4l1	UTSW	1	171,001,975 (GRCm39)	missense	possibly damaging	0.66
R9433:Pcp4l1	UTSW	1	171,001,998 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTGTGATGGCTTAAGAGAGC -3'
(R):5'- CGGACCTCAAGTTGTCTAACTG -3'

Sequencing Primer
(F):5'- ATATAAAGGTTAAGCTTGCCTTGGG -3'
(R):5'- CTAACTGAAAATGGACTGTAAGTGC -3'

Posted On

2019-09-13