Mutagenetix > Incidental Mutations

Incidental Mutation 'R4441:Prph'

329784

Institutional Source

Beutler Lab

Gene Symbol

Prph

Ensembl Gene

ENSMUSG00000023484

Gene Name

peripherin

Synonyms

Prph1

MMRRC Submission

041706-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R4441 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

99055174-99058978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99057124 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 325 (S325N)

Ref Sequence

ENSEMBL: ENSMUSP00000024249 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000024249
AA Change: S325N

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

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: S325N

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: S357N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: S357N

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: S357N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.1020

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (53/55)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,527,801	R1238S	probably benign	Het
Ankmy1	A	T	1: 92,888,661	Y244N	possibly damaging	Het
Asxl3	C	T	18: 22,524,233	P1767S	probably damaging	Het
C1qtnf7	A	T	5: 43,609,270	K70N	possibly damaging	Het
Fam78b	C	A	1: 167,078,922	Q217K	probably damaging	Het
Fam92a	A	G	4: 12,157,733	M261T	probably damaging	Het
Garem1	T	C	18: 21,168,750	T127A	possibly damaging	Het
Gls	A	T	1: 52,196,163		probably null	Het
Gm12790	A	C	4: 101,968,140	S26A	probably damaging	Het
Gm136	T	C	4: 34,755,911	D34G	probably benign	Het
Gmds	A	G	13: 31,940,478		probably null	Het
Hdac9	G	T	12: 34,389,376	H401N	probably damaging	Het
Hmcn1	T	C	1: 150,657,459	I3026V	probably null	Het
Igkv6-20	A	T	6: 70,336,117	M24K	probably damaging	Het
Ilf2	T	C	3: 90,487,462	L339P	probably benign	Het
Insr	T	A	8: 3,194,902	K501N	probably benign	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Mcm5	T	C	8: 75,112,544	S142P	probably benign	Het
Mcpt9	A	G	14: 56,027,552	V164A	probably damaging	Het
Ncapd3	T	A	9: 27,051,645	D415E	possibly damaging	Het
Nfia	T	C	4: 97,772,913		probably null	Het
Nipbl	G	C	15: 8,366,658	Q144E	probably damaging	Het
Olfr1346	T	C	7: 6,474,925	S272P	probably benign	Het
Olfr578	A	T	7: 102,984,309	V285E	possibly damaging	Het
Olfr638	T	G	7: 104,004,072	F266V	probably damaging	Het
Pcdhgb8	A	G	18: 37,763,061	I395V	possibly damaging	Het
Plcz1	T	A	6: 139,990,687	L605F	probably benign	Het
Ptpn23	A	G	9: 110,392,725	M131T	probably benign	Het
Rab3ip	T	G	10: 116,915,932	D278A	probably benign	Het
Rasgrf2	T	C	13: 91,983,678	D620G	possibly damaging	Het
Rbm5	A	G	9: 107,749,688		probably benign	Het
Rc3h2	A	G	2: 37,414,514		probably null	Het
Tbxa2r	T	C	10: 81,333,091	S205P	probably damaging	Het
Tenm4	A	G	7: 96,895,815	N2375S	probably benign	Het
Tespa1	C	T	10: 130,361,957	R283C	probably damaging	Het
Tex45	C	T	8: 3,476,105	S86L	probably damaging	Het
Tle2	A	G	10: 81,581,682	E227G	possibly damaging	Het
Tnik	A	G	3: 28,564,097	I266V	possibly damaging	Het
Tnn	T	G	1: 160,116,080	E1054D	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpm1	A	G	7: 64,201,918	D12G	probably damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wdr7	T	A	18: 63,755,210	Y585N	probably damaging	Het
Zgrf1	T	A	3: 127,586,137	N223K	possibly 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
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
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'- AACATCGCGGCAAAGAATCTG -3'
(R):5'- TGTCGAAGCTCTTCCTCCAG -3'

Sequencing Primer
(F):5'- GTGGTATAAGTCGAAAGTGCG -3'
(R):5'- GGCGAACTGCTCTTCCAG -3'

Posted On

2015-07-21