Mutagenetix > Incidental Mutation

Incidental Mutation 'R6199:Prph'

503121

Institutional Source

Beutler Lab

Gene Symbol

Prph

Ensembl Gene

ENSMUSG00000023484

Gene Name

peripherin

Synonyms

Prph1

MMRRC Submission

044339-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R6199 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98953055-98956859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98954713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 35 (T35A)

Ref Sequence

ENSEMBL: ENSMUSP00000155819 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024249
AA Change: T260A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: T260A

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 benign
Transcript: ENSMUST00000047104
AA Change: T260A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: T260A

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
AA Change: T35A

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000230021
AA Change: T260A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,407,887 (GRCm39)	D206V	possibly damaging	Het
Ank2	T	A	3: 126,797,655 (GRCm39)	D685V	probably damaging	Het
Baz2b	A	G	2: 59,809,019 (GRCm39)	S77P	probably benign	Het
Ccdc194	T	C	8: 71,978,109 (GRCm39)	N83D	probably benign	Het
Ceacam5	A	T	7: 17,448,810 (GRCm39)	T59S	probably benign	Het
Cemip2	G	A	19: 21,822,186 (GRCm39)	G1194S	probably benign	Het
Ces1e	A	C	8: 93,944,163 (GRCm39)	F218L	probably damaging	Het
Cilk1	T	C	9: 78,071,921 (GRCm39)	V531A	probably benign	Het
Cps1	TGTCCATTGGTC	TGTC	1: 67,201,774 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eftud2	A	T	11: 102,730,883 (GRCm39)	V843E	probably damaging	Het
Fuca2	G	T	10: 13,381,783 (GRCm39)	W232L	probably damaging	Het
Gdf7	T	C	12: 8,348,832 (GRCm39)	D155G	unknown	Het
Ggcx	G	T	6: 72,407,122 (GRCm39)	V753F	possibly damaging	Het
Ghrhr	A	T	6: 55,356,173 (GRCm39)	T89S	probably benign	Het
Gpr151	T	C	18: 42,711,619 (GRCm39)	K353R	probably benign	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsdmc2	A	G	15: 63,696,962 (GRCm39)	I403T	probably benign	Het
H2-M1	A	G	17: 36,982,059 (GRCm39)	S181P	probably benign	Het
Igsf5	C	T	16: 96,222,939 (GRCm39)	S61L	possibly damaging	Het
Insc	A	T	7: 114,390,401 (GRCm39)		probably null	Het
Izumo4	G	A	10: 80,538,707 (GRCm39)	G53D	probably damaging	Het
Ksr1	G	A	11: 78,911,267 (GRCm39)	P693S	possibly damaging	Het
Lgals4	G	A	7: 28,535,317 (GRCm39)	R27H	probably damaging	Het
Lpcat2b	A	G	5: 107,581,171 (GRCm39)	R167G	probably benign	Het
Man1a	C	T	10: 53,890,552 (GRCm39)	V288I	possibly damaging	Het
Map2	T	G	1: 66,464,637 (GRCm39)	S1676A	probably damaging	Het
Mbl1	G	T	14: 40,875,572 (GRCm39)	V9F	unknown	Het
Mrgprb8	T	A	7: 48,039,051 (GRCm39)	C241S	probably benign	Het
Mrpl2	T	C	17: 46,960,012 (GRCm39)	L227P	probably damaging	Het
Mthfd1	T	A	12: 76,335,685 (GRCm39)	V253E	probably damaging	Het
Mthfd1	A	G	12: 76,350,454 (GRCm39)	H464R	probably damaging	Het
Mug2	T	A	6: 122,024,398 (GRCm39)	M490K	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Notch1	A	G	2: 26,359,911 (GRCm39)	V1268A	probably damaging	Het
Or6b2b	A	T	1: 92,419,264 (GRCm39)	I71N	possibly damaging	Het
Or8b12c	C	A	9: 37,716,177 (GRCm39)		probably null	Het
Pgm1	A	T	4: 99,836,151 (GRCm39)	I412F	probably damaging	Het
Plaur	A	T	7: 24,164,628 (GRCm39)	Q44L	possibly damaging	Het
Ppara	T	C	15: 85,671,434 (GRCm39)	Y112H	probably damaging	Het
Ppm1h	G	A	10: 122,756,644 (GRCm39)	V430M	probably damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prrc2c	C	T	1: 162,510,085 (GRCm39)	G780S	probably damaging	Het
Ptchd3	T	A	11: 121,721,908 (GRCm39)	N260K	probably benign	Het
Ptprz1	A	G	6: 23,002,470 (GRCm39)	D1520G	probably benign	Het
Samd9l	T	A	6: 3,376,686 (GRCm39)	I192L	probably benign	Het
Slc39a10	T	C	1: 46,874,993 (GRCm39)	D103G	probably damaging	Het
Smndc1	G	A	19: 53,372,063 (GRCm39)	T117M	probably benign	Het
Tesk2	A	G	4: 116,649,367 (GRCm39)	D159G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn2r108	A	T	17: 20,682,644 (GRCm39)	N853K	probably benign	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	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
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
R9338:Prph	UTSW	15	98,955,359 (GRCm39)	missense	probably damaging	1.00
Z1177:Prph	UTSW	15	98,954,261 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGTCTCAGAATTCAGAGGGG -3'
(R):5'- TCCGACAGGTCAGCATACTG -3'

Sequencing Primer
(F):5'- AATTCAGAGGGGGTGCACTCC -3'
(R):5'- TAGCAGACAAGCCCGGCTG -3'

Posted On

2018-02-27