Mutagenetix > Incidental Mutation

Incidental Mutation 'R9338:Prph'

707323

Institutional Source

Beutler Lab

Gene Symbol

Prph

Ensembl Gene

ENSMUSG00000023484

Gene Name

peripherin

Synonyms

Prph1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R9338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98953055-98956859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 98955359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 442 (R442P)

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 damaging
Transcript: ENSMUST00000024249
AA Change: R410P

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

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: R410P

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: R442P

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

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: R442P

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: R442P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam30	G	A	3: 98,070,129 (GRCm39)	G654D	probably damaging	Het
Cct3	T	C	3: 88,225,706 (GRCm39)	V343A	probably benign	Het
Col11a2	A	G	17: 34,266,204 (GRCm39)	T358A	unknown	Het
Cox6a2	T	C	7: 127,804,914 (GRCm39)	Y94C	probably damaging	Het
Cubn	T	A	2: 13,386,703 (GRCm39)	I1521F	probably damaging	Het
Dclk3	C	A	9: 111,268,373 (GRCm39)	A14E	unknown	Het
Dlgap2	T	C	8: 14,229,683 (GRCm39)		probably null	Het
Dop1b	C	A	16: 93,600,448 (GRCm39)	Q2042K	probably damaging	Het
Ech1	A	G	7: 28,525,427 (GRCm39)	S61G	probably null	Het
Ext2	T	A	2: 93,526,603 (GRCm39)	N678Y	probably damaging	Het
Fgfr2	G	T	7: 129,863,561 (GRCm39)	C28*	probably null	Het
Gon4l	C	A	3: 88,809,019 (GRCm39)	D1754E	probably benign	Het
Hivep2	T	A	10: 14,004,693 (GRCm39)	C430*	probably null	Het
Htr7	C	T	19: 35,941,780 (GRCm39)		probably null	Het
Idh3b	A	T	2: 130,122,392 (GRCm39)	M331K	probably damaging	Het
Ighv2-7	A	T	12: 113,771,118 (GRCm39)	F56I	probably benign	Het
Inpp5k	C	T	11: 75,536,411 (GRCm39)	H330Y	probably damaging	Het
Kif26b	T	C	1: 178,744,058 (GRCm39)	Y1385H	probably damaging	Het
Mad1l1	A	G	5: 140,074,561 (GRCm39)	L543P	probably damaging	Het
Mdn1	A	T	4: 32,666,536 (GRCm39)	H158L	probably benign	Het
Mpp2	T	A	11: 101,951,249 (GRCm39)	T511S	probably benign	Het
Msantd5f6	T	C	4: 73,320,245 (GRCm39)	E178G	possibly damaging	Het
Msh4	T	C	3: 153,573,444 (GRCm39)	I737V	possibly damaging	Het
Myo15b	T	C	11: 115,762,238 (GRCm39)	L1186P		Het
Nckap1l	A	G	15: 103,379,991 (GRCm39)	T346A	probably benign	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Npy5r	T	C	8: 67,134,658 (GRCm39)	N45S	probably benign	Het
Or6c202	T	C	10: 128,996,610 (GRCm39)	N81S	probably benign	Het
Pde6a	G	A	18: 61,354,109 (GRCm39)	A145T	probably damaging	Het
Pfkp	A	C	13: 6,634,724 (GRCm39)	S678A	probably damaging	Het
Phxr2	A	G	10: 98,962,043 (GRCm39)		probably benign	Het
Pi4ka	C	A	16: 17,135,227 (GRCm39)	L942F		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2g4e	T	A	2: 120,019,914 (GRCm39)	T179S	probably benign	Het
Popdc2	G	A	16: 38,194,509 (GRCm39)	C310Y	probably benign	Het
Ppip5k1	C	T	2: 121,153,827 (GRCm39)	R113Q		Het
Prmt7	C	T	8: 106,961,665 (GRCm39)	R193C	unknown	Het
Prrc2b	A	G	2: 32,098,779 (GRCm39)	Y697C	probably damaging	Het
Ptprm	T	A	17: 67,069,143 (GRCm39)	R962S	probably damaging	Het
Raph1	A	G	1: 60,529,300 (GRCm39)	S654P	unknown	Het
Reln	A	G	5: 22,202,937 (GRCm39)	F1288L	probably damaging	Het
Rhot1	T	A	11: 80,145,568 (GRCm39)	I553N	probably benign	Het
Rnf168	T	C	16: 32,110,801 (GRCm39)		probably null	Het
Slamf6	T	A	1: 171,747,157 (GRCm39)		probably benign	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
Taf4b	C	T	18: 14,954,555 (GRCm39)	P544S	probably benign	Het
Tbc1d24	A	G	17: 24,427,377 (GRCm39)	V195A	probably benign	Het
Tomm70a	A	G	16: 56,942,399 (GRCm39)	M59V	probably benign	Het
Trip12	A	G	1: 84,727,019 (GRCm39)	S1184P	probably damaging	Het
Trrap	A	G	5: 144,727,925 (GRCm39)	S549G	probably benign	Het
Unc5d	T	A	8: 29,709,471 (GRCm39)		probably benign	Het
Ush2a	G	A	1: 188,308,489 (GRCm39)		probably null	Het
Usp45	T	C	4: 21,784,755 (GRCm39)	V147A	probably damaging	Het
Vmn2r77	T	A	7: 86,460,994 (GRCm39)	N773K	probably damaging	Het
Vps13c	A	T	9: 67,858,977 (GRCm39)	N2809I	probably damaging	Het
Yeats2	T	A	16: 20,032,078 (GRCm39)	S984R	possibly damaging	Het
Yeats2	T	A	16: 20,041,533 (GRCm39)	L1141Q	probably damaging	Het
Zfp58	T	A	13: 67,639,394 (GRCm39)	T366S	probably benign	Het

Other mutations in Prph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Prph	APN	15	98,956,517 (GRCm39)	missense	possibly damaging	0.88
IGL01472:Prph	APN	15	98,956,474 (GRCm39)	splice site	probably benign
IGL01868:Prph	APN	15	98,954,224 (GRCm39)	missense	probably damaging	1.00
IGL02714:Prph	APN	15	98,954,747 (GRCm39)	missense	probably damaging	1.00
IGL02816:Prph	APN	15	98,955,301 (GRCm39)	missense	probably damaging	0.97
R0242:Prph	UTSW	15	98,953,608 (GRCm39)	missense	probably damaging	1.00
R0396:Prph	UTSW	15	98,954,872 (GRCm39)	missense	probably benign
R0441:Prph	UTSW	15	98,955,319 (GRCm39)	missense	probably damaging	1.00
R2065:Prph	UTSW	15	98,954,014 (GRCm39)	missense	probably damaging	1.00
R2326:Prph	UTSW	15	98,953,163 (GRCm39)	unclassified	probably benign
R3115:Prph	UTSW	15	98,953,337 (GRCm39)	missense	probably damaging	1.00
R4441:Prph	UTSW	15	98,955,005 (GRCm39)	missense	probably damaging	1.00
R4794:Prph	UTSW	15	98,955,308 (GRCm39)	missense	probably damaging	1.00
R5058:Prph	UTSW	15	98,953,113 (GRCm39)	unclassified	probably benign
R5463:Prph	UTSW	15	98,953,281 (GRCm39)	missense	probably benign	0.43
R6199:Prph	UTSW	15	98,954,713 (GRCm39)	missense	probably benign	0.33
R6242:Prph	UTSW	15	98,955,004 (GRCm39)	missense	probably damaging	0.99
R6502:Prph	UTSW	15	98,954,267 (GRCm39)	missense	probably damaging	1.00
R7356:Prph	UTSW	15	98,954,807 (GRCm39)	missense	probably damaging	1.00
R7818:Prph	UTSW	15	98,955,753 (GRCm39)	missense	probably damaging	1.00
R8353:Prph	UTSW	15	98,954,657 (GRCm39)	missense	probably benign	0.02
R8453:Prph	UTSW	15	98,954,657 (GRCm39)	missense	probably benign	0.02
Z1177:Prph	UTSW	15	98,954,261 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGAAAACCCTTCCGACTGCC -3'
(R):5'- ACAATCAGAACAATCGGGGC -3'

Sequencing Primer
(F):5'- AATGAGGCGCTGCTCAGAC -3'
(R):5'- TCAGAACAATCGGGGCAGGAG -3'

Posted On

2022-04-18