Mutagenetix > Incidental Mutations

Incidental Mutation 'R7356:Prph'

570988

Institutional Source

Beutler Lab

Gene Symbol

Prph

Ensembl Gene

ENSMUSG00000023484

Gene Name

peripherin

Synonyms

Prph1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99055174-99058978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99056926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 291 (Y291C)

Ref Sequence

ENSEMBL: ENSMUSP00000049303 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000024249
AA Change: Y291C

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

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: Y291C

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

probably damaging
Transcript: ENSMUST00000047104
AA Change: Y291C

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

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: Y291C

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: Y291C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	T	4: 49,383,507	D15E	probably damaging	Het
Adamts16	G	A	13: 70,836,280	T88I	probably benign	Het
Akap6	A	C	12: 52,911,864	N801H	probably damaging	Het
Ankfn1	G	T	11: 89,434,773	N524K	probably damaging	Het
Ap5s1	A	G	2: 131,212,662	N131S	probably damaging	Het
Astn2	A	T	4: 66,185,266	D303E	unknown	Het
Babam1	T	C	8: 71,399,564	V132A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	3: 95,888,141		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,888,158		probably benign	Het
BC028528	GGTCACTGGTTCTGT	GGTCACTGGTTCTGTAGTCACTGGTTCTGT	3: 95,888,165		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTCCTGTGGTCACTGGT	3: 95,888,175		probably benign	Het
BC028528	CACTGGTT	CACTGGTTCTATGGTGACTGGTT	3: 95,888,183		probably benign	Het
Cnst	C	T	1: 179,606,530	P304S	probably benign	Het
Cog4	A	T	8: 110,849,866		probably null	Het
Cyp2j13	A	T	4: 96,077,418	H17Q	probably benign	Het
Ddx58	A	G	4: 40,226,600	S231P	probably benign	Het
Dock6	G	A	9: 21,809,899	T1662I	probably damaging	Het
Dysf	T	C	6: 84,067,461	F270S	probably damaging	Het
Erbb4	A	G	1: 68,339,355		probably null	Het
Fam120b	A	T	17: 15,407,696	Q550L	probably benign	Het
Fam83b	A	T	9: 76,492,853	F323I	probably benign	Het
Far1	T	A	7: 113,568,142	I478N	possibly damaging	Het
Gdpd5	T	A	7: 99,458,878	I554N	probably damaging	Het
Glrx3	T	C	7: 137,452,724	S79P	probably damaging	Het
Hltf	T	C	3: 20,109,370	I888T	probably damaging	Het
Hpx	A	G	7: 105,591,710	V452A	probably damaging	Het
Itk	T	G	11: 46,367,832	Q81P	possibly damaging	Het
Kdm6b	G	A	11: 69,402,165	Q1262*	probably null	Het
Lpcat2	T	C	8: 92,864,983	V85A	probably benign	Het
Lrrk2	A	T	15: 91,738,744	H1039L	probably benign	Het
Mapk3	T	C	7: 126,760,915		probably null	Het
Masp1	A	T	16: 23,470,243	N602K	possibly damaging	Het
Myo7a	T	A	7: 98,102,683	Q40L	probably benign	Het
Nek1	A	T	8: 61,120,960	M1081L	probably benign	Het
Nes	T	C	3: 87,977,751	S1106P	possibly damaging	Het
Nkpd1	A	T	7: 19,523,774	I493F	probably damaging	Het
Npsr1	C	G	9: 24,098,261	S21C	probably benign	Het
Olfr1001-ps1	G	A	2: 85,633,438	R3K	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,355	M118K	probably damaging	Het
Olfr738	G	A	14: 50,413,702	V53M	probably damaging	Het
Oog1	G	A	12: 87,606,277		probably null	Het
Osbpl9	G	T	4: 109,068,480	Y340*	probably null	Het
Pcyox1l	A	T	18: 61,707,550	L11Q	probably null	Het
Pdxdc1	G	A	16: 13,860,003	R255C	probably damaging	Het
Pgap1	A	G	1: 54,530,134	S358P	probably benign	Het
Pgm2l1	A	G	7: 100,268,119	Y481C	possibly damaging	Het
Plekhf1	T	C	7: 38,222,121	T8A	possibly damaging	Het
Plg	G	T	17: 12,410,911	G611C	probably damaging	Het
Prf1	A	C	10: 61,303,280	D339A	possibly damaging	Het
Rasal1	A	G	5: 120,654,825	S48G	possibly damaging	Het
Ripk4	T	A	16: 97,743,149	Q766L	probably damaging	Het
Scaf1	T	C	7: 45,007,784	D557G	unknown	Het
Scaper	A	T	9: 55,892,211	M190K	unknown	Het
Scn8a	A	T	15: 100,957,579	I202F	probably damaging	Het
Siglecf	A	G	7: 43,356,431	I505V	probably benign	Het
Sirpb1c	A	G	3: 15,832,133	S360P	probably benign	Het
Sla2	C	A	2: 156,878,703		probably null	Het
Slc11a1	G	T	1: 74,385,489	V544L	probably benign	Het
Slco1a5	T	A	6: 142,234,732	K648I	probably benign	Het
Sorcs1	T	A	19: 50,175,157	I1020F	possibly damaging	Het
Spen	C	A	4: 141,471,924	E3131*	probably null	Het
Sult2a7	A	T	7: 14,477,106	W162R	probably damaging	Het
Sult3a1	G	A	10: 33,866,583	E69K	probably benign	Het
Tcof1	G	T	18: 60,818,094	D1119E	unknown	Het
Tom1l2	A	T	11: 60,249,027	I272K	probably damaging	Het
Tspan5	C	T	3: 138,742,432		probably benign	Het
Ttn	A	G	2: 76,867,900	L186P		Het
Uap1l1	T	C	2: 25,361,684	E496G	possibly damaging	Het
Ube2v1	A	T	2: 167,609,195	I117N	possibly damaging	Het
Usp42	A	G	5: 143,717,087	V593A	possibly damaging	Het
Virma	T	A	4: 11,513,595	I483N	probably damaging	Het
Vwde	T	A	6: 13,192,642	I421F	probably damaging	Het
Zfp345	G	A	2: 150,472,289	H443Y	probably damaging	Het
Zfp760	A	G	17: 21,722,620	T259A	probably benign	Het
Zfp941	T	C	7: 140,812,115	I444V	possibly damaging	Het
Zfyve9	A	C	4: 108,719,015	S290A	probably benign	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
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
R7818:Prph	UTSW	15	99057872	missense	probably damaging	1.00
R8353:Prph	UTSW	15	99056776	missense	probably benign	0.02
R8453:Prph	UTSW	15	99056776	missense	probably benign	0.02
R9338:Prph	UTSW	15	99057478	missense	probably damaging	1.00
Z1177:Prph	UTSW	15	99056380	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACTTGGGCTCAGGTCTCAG -3'
(R):5'- TGACGTCGAGACTCGTTCATC -3'

Sequencing Primer
(F):5'- AACTTGGGCTCAGGTCTCAGAATTC -3'
(R):5'- GAGACTCGTTCATCTCTTGCTTGG -3'

Posted On

2019-09-13