Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02816:Prph'

360801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prph

Ensembl Gene

ENSMUSG00000023484

Gene Name

peripherin

Synonyms

Prph1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

IGL02816

Quality Score

Status

Chromosome

Chromosomal Location

99055174-99058978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99057420 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 423 (M423V)

Ref Sequence

ENSEMBL: ENSMUSP00000155294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024249] [ENSMUST00000047104] [ENSMUST00000229268] [ENSMUST00000230021]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024249
AA Change: M391V

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: M391V

Domain	Start	End	E-Value	Type
Pfam:Filament_head	19	99	2.7e-18	PFAM
Pfam:Filament	100	410	4.5e-112	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047104
AA Change: M423V

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: M423V

Domain	Start	End	E-Value	Type
Pfam:Filament_head	19	99	3.2e-18	PFAM
Filament	100	442	1.87e-135	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229268

Predicted Effect

probably damaging
Transcript: ENSMUST00000230021
AA Change: M423V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice showed no overt phenotype up to 14 months of age. While overall structure, number, and caliber of large myelinated axons was normal, mice had reduced numbers of a small subset of unmelinated sensory axons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Caskin1	C	A	17: 24,502,170	P495T	probably benign	Het
Clcn4	A	G	7: 7,295,088	C41R	probably damaging	Het
Etfdh	G	A	3: 79,622,805	T52M	probably damaging	Het
Fam227a	T	C	15: 79,626,296	T386A	possibly damaging	Het
Gabrr3	T	C	16: 59,440,467		probably benign	Het
Krt25	G	T	11: 99,318,151	D284E	probably benign	Het
Map1b	T	C	13: 99,441,755	D130G	probably damaging	Het
Nlrp3	T	A	11: 59,555,782	F785I	probably benign	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Numa1	T	A	7: 101,996,100	I311N	probably damaging	Het
Pkd1	T	C	17: 24,594,515	C4010R	probably benign	Het
Rb1cc1	T	A	1: 6,262,828		probably benign	Het
Ribc2	T	G	15: 85,132,905	V48G	probably damaging	Het
Scyl1	A	T	19: 5,770,382	N141K	probably damaging	Het
Sec23a	T	A	12: 58,978,545	M497L	probably benign	Het
Strada	C	T	11: 106,164,425		probably benign	Het
Tas2r144	A	T	6: 42,215,605	Y93F	probably benign	Het
Tmem94	T	A	11: 115,788,704		probably null	Het
Trpc3	A	G	3: 36,651,702	F448S	probably damaging	Het
Ttc13	A	G	8: 124,712,676	I113T	possibly damaging	Het
Ttc27	T	A	17: 74,747,774		probably benign	Het
Ttll13	G	T	7: 80,253,094	C170F	possibly damaging	Het
Yes1	C	T	5: 32,645,107	T122M	probably damaging	Het

Other mutations in Prph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Prph	APN	15	99058636	missense	possibly damaging	0.88
IGL01472:Prph	APN	15	99058593	splice site	probably benign
IGL01868:Prph	APN	15	99056343	missense	probably damaging	1.00
IGL02714:Prph	APN	15	99056866	missense	probably damaging	1.00
R0242:Prph	UTSW	15	99055727	missense	probably damaging	1.00
R0396:Prph	UTSW	15	99056991	missense	probably benign
R0441:Prph	UTSW	15	99057438	missense	probably damaging	1.00
R2065:Prph	UTSW	15	99056133	missense	probably damaging	1.00
R2326:Prph	UTSW	15	99055282	unclassified	probably benign
R3115:Prph	UTSW	15	99055456	missense	probably damaging	1.00
R4441:Prph	UTSW	15	99057124	missense	probably damaging	1.00
R4794:Prph	UTSW	15	99057427	missense	probably damaging	1.00
R5058:Prph	UTSW	15	99055232	unclassified	probably benign
R5463:Prph	UTSW	15	99055400	missense	probably benign	0.43
R6199:Prph	UTSW	15	99056832	missense	probably benign	0.33
R6242:Prph	UTSW	15	99057123	missense	probably damaging	0.99
R6502:Prph	UTSW	15	99056386	missense	probably damaging	1.00
R7356:Prph	UTSW	15	99056926	missense	probably damaging	1.00
R7818:Prph	UTSW	15	99057872	missense	probably damaging	1.00
R8353:Prph	UTSW	15	99056776	missense	probably benign	0.02
Z1177:Prph	UTSW	15	99056380	missense	probably damaging	0.98

Posted On

2015-12-18