Mutagenetix > Incidental Mutations

Incidental Mutation 'R0441:Prph'

39189

Institutional Source

Beutler Lab

Gene Symbol

Prph

Ensembl Gene

ENSMUSG00000023484

Gene Name

peripherin

Synonyms

Prph1

MMRRC Submission

038642-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99055174-99058978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99057438 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 429 (I429L)

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: I397L

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: I397L

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: I429L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: I429L

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: I429L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,235,492		probably benign	Het
Adgrv1	G	A	13: 81,397,226	R5647*	probably null	Het
Agbl2	C	T	2: 90,797,483	R211*	probably null	Het
Akap9	A	G	5: 3,961,714	K806E	probably benign	Het
Ampd1	C	G	3: 103,088,478	L235V	probably benign	Het
Atcay	T	C	10: 81,224,460	D14G	possibly damaging	Het
Atp8b4	C	T	2: 126,378,706		probably benign	Het
Bmp8b	T	C	4: 123,124,515	V393A	probably damaging	Het
Brca2	T	A	5: 150,541,857	D1695E	probably damaging	Het
Cdh15	A	G	8: 122,860,966	I210V	probably damaging	Het
Cep250	T	C	2: 155,972,004	L564P	possibly damaging	Het
Cmpk1	T	C	4: 114,965,023	T110A	probably benign	Het
Cpsf3	T	G	12: 21,300,084	I268S	probably damaging	Het
Csmd2	C	T	4: 128,520,230	A2621V	probably benign	Het
Cyp2c40	T	C	19: 39,807,163		probably benign	Het
D430041D05Rik	T	A	2: 104,167,947	Y1837F	probably damaging	Het
Degs2	A	G	12: 108,702,214	F10S	probably damaging	Het
Dytn	T	A	1: 63,678,774		probably benign	Het
Elfn2	G	C	15: 78,673,595	P251A	probably benign	Het
Epg5	T	C	18: 78,023,271		probably benign	Het
Evc2	A	G	5: 37,417,467	D1022G	probably damaging	Het
Fat3	A	G	9: 15,945,008		probably benign	Het
Fbn1	A	T	2: 125,309,755		probably null	Het
Gm15217	T	C	14: 46,383,219		probably null	Het
Gm17611	A	T	13: 49,976,399		noncoding transcript	Het
Gpld1	G	A	13: 24,962,320	W182*	probably null	Het
Gsc	T	C	12: 104,473,094	I8V	probably damaging	Het
Hck	A	G	2: 153,134,132	K197R	probably benign	Het
Kat6b	T	C	14: 21,670,233	L1551P	probably damaging	Het
Lrch1	C	T	14: 74,947,545	G39D	possibly damaging	Het
Macf1	T	C	4: 123,365,355		probably null	Het
Mroh9	A	T	1: 163,060,762	V248E	probably damaging	Het
Mrps15	C	A	4: 126,051,417		probably benign	Het
Mum1	A	T	10: 80,229,025	N30Y	probably damaging	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Ndufa5	T	C	6: 24,522,751	T31A	probably benign	Het
Nfyb	A	G	10: 82,750,760	V190A	possibly damaging	Het
Nos2	A	G	11: 78,928,583	I40M	probably benign	Het
Olfr1019	A	T	2: 85,841,515	I92N	probably damaging	Het
Olfr1084	A	T	2: 86,639,330	I126K	probably damaging	Het
Olfr452	T	C	6: 42,790,174	I45T	probably damaging	Het
Otog	T	C	7: 46,305,877	S564P	probably damaging	Het
Pak7	C	T	2: 136,116,629	A180T	probably benign	Het
Pappa2	T	C	1: 158,763,058		probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plxnc1	T	A	10: 94,796,482	N1431I	probably damaging	Het
Prrc2a	A	G	17: 35,149,688		probably benign	Het
Rad54b	A	T	4: 11,563,394	T18S	probably benign	Het
Ranbp2	A	G	10: 58,485,768	E2629G	probably benign	Het
Rec114	G	A	9: 58,657,770	T201I	probably benign	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Sec23b	A	G	2: 144,581,997	E522G	probably damaging	Het
Sgsm3	G	A	15: 81,009,770	R502H	possibly damaging	Het
Sh3pxd2b	C	A	11: 32,423,023	A730D	possibly damaging	Het
Spag4	A	G	2: 156,067,979	D187G	probably damaging	Het
Srgap2	G	A	1: 131,336,437	T465I	probably damaging	Het
St3gal6	C	A	16: 58,473,453	A238S	probably damaging	Het
St3gal6	G	T	16: 58,473,455	A237E	probably damaging	Het
Tecpr1	C	A	5: 144,195,941	R1159L	probably benign	Het
Tmem63b	A	T	17: 45,666,315		probably null	Het
Tmtc1	T	A	6: 148,415,758	D78V	probably damaging	Het
Tpp2	A	G	1: 43,990,562	N68D	possibly damaging	Het
Ttn	C	A	2: 76,939,925	A2641S	probably benign	Het
Uimc1	T	C	13: 55,093,219	K19E	probably damaging	Het
Utrn	T	A	10: 12,688,294	E1274V	probably null	Het
Vmn2r102	A	T	17: 19,694,368	I732F	probably damaging	Het
Wrn	A	T	8: 33,268,750	M792K	probably benign	Het
Zfp451	A	G	1: 33,777,045	I608T	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
IGL02816:Prph	APN	15	99057420	missense	probably damaging	0.97
R0242:Prph	UTSW	15	99055727	missense	probably damaging	1.00
R0396:Prph	UTSW	15	99056991	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TCAGATCCAGAGTCTGATGTGCGAG -3'
(R):5'- ATGAACCGGCACTGAGATCCTGAG -3'

Sequencing Primer
(F):5'- GATGGATGCTGAAAACCCTTC -3'
(R):5'- CTGAGATCCTGAGGACAAAGC -3'

Posted On

2013-05-23