Mutagenetix > Incidental Mutations

Incidental Mutation 'R6242:Prph'

505329

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: 0.139) question?

Stock #

R6242 (G1)

Quality Score

121.008

Status

Validated

Chromosome

Chromosomal Location

99055174-99058978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99057123 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 325 (S325G)

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: S325G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: S325G

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: S357G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: S357G

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 benign
Transcript: ENSMUST00000230021
AA Change: S357G

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1203

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	T	9: 50,763,915	E148K	probably benign	Het
1700016K19Rik	T	C	11: 76,000,155	S32P	probably damaging	Het
4933425L06Rik	T	A	13: 105,109,540	V203E	probably benign	Het
Adcy6	G	T	15: 98,604,015	C239*	probably null	Het
Akr1c6	A	G	13: 4,436,362	Q56R	probably benign	Het
Apaf1	T	A	10: 91,062,163	D244V	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,728,078	A898E	probably benign	Het
Asxl3	A	T	18: 22,522,376	N1148Y	probably damaging	Het
Atf6	T	A	1: 170,793,976	Q492L	possibly damaging	Het
Atrnl1	G	T	19: 57,642,478	V226F	probably benign	Het
Cntnap1	A	T	11: 101,182,538	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,555,690	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,459,212	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,454,390	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Epha6	A	T	16: 59,682,662	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,031,352	E475G	probably damaging	Het
Fam186a	A	G	15: 99,939,907	Y2819H	unknown	Het
Fancm	A	T	12: 65,116,442	Q1460L	probably benign	Het
Fancm	C	A	12: 65,116,449	N1462K	probably benign	Het
Fgf14	T	C	14: 124,676,528	K64E	probably benign	Het
Fndc5	T	C	4: 129,139,895	V152A	probably benign	Het
Garem1	C	G	18: 21,129,172	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,976,179	G814R	probably damaging	Het
Hacd4	A	G	4: 88,414,287	S226P	probably benign	Het
Htt	A	G	5: 34,846,012	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,766,078	D107V	probably damaging	Het
Iqcc	T	C	4: 129,616,846	D292G	probably damaging	Het
Krtap13	C	T	16: 88,751,496	V35I	probably damaging	Het
Lrrc59	G	T	11: 94,634,983	L132F	possibly damaging	Het
Mcub	T	C	3: 129,915,795	S290G	probably benign	Het
Mettl4	A	G	17: 94,735,374	W345R	probably damaging	Het
Msgn1	G	A	12: 11,208,525	R142W	probably damaging	Het
Myo5c	A	G	9: 75,273,611	I761V	probably benign	Het
Neb	T	A	2: 52,176,812	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,822,786	V226M	probably damaging	Het
Olfr1459	T	A	19: 13,146,086	H191L	probably benign	Het
Olfr645	T	G	7: 104,084,564	H172P	possibly damaging	Het
Parp4	T	A	14: 56,595,399	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,743,555	V439I	probably benign	Het
Pde1a	T	A	2: 80,128,792	T15S	probably benign	Het
Pgr	T	A	9: 8,900,979	I171N	probably benign	Het
Podxl	T	A	6: 31,526,245	D296V	probably benign	Het
Polr3e	A	T	7: 120,940,467	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,341,252	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,142,555	K5*	probably null	Het
Rabl2	C	A	15: 89,584,352	W49L	probably benign	Het
Rbbp8nl	T	A	2: 180,280,974	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Scn7a	T	C	2: 66,700,766	D589G	probably benign	Het
Sdr42e1	A	T	8: 117,663,197	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,116,001	M11T	probably benign	Het
Slc6a4	A	T	11: 77,018,358	K399*	probably null	Het
Slco4c1	T	A	1: 96,839,283	T337S	probably damaging	Het
Spc25	A	T	2: 69,197,211	F112L	probably damaging	Het
Swt1	A	G	1: 151,407,614	S331P	probably benign	Het
Tab1	A	T	15: 80,155,770	K264*	probably null	Het
Tagln3	T	A	16: 45,724,338		probably benign	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tbck	A	G	3: 132,694,428	D80G	probably benign	Het
Tcim	A	T	8: 24,438,895	M1K	probably null	Het
Thap2	A	G	10: 115,372,926	S37P	unknown	Het
Tjp2	A	T	19: 24,099,603		probably null	Het
Tln1	G	A	4: 43,533,145	S2390L	probably damaging	Het
Trpm5	T	G	7: 143,073,182	I1101L	probably benign	Het
Ttc3	T	G	16: 94,442,695	M831R	probably benign	Het
Tulp3	A	G	6: 128,323,087	C459R	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,716,691	L549P	probably benign	Het
Usp10	G	T	8: 119,941,838	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,704,400	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Wif1	T	C	10: 121,034,461	I40T	possibly damaging	Het
Zmynd8	G	A	2: 165,898,947	R6C	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
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
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'- CATCGCGGCAAAGAATCTG -3'
(R):5'- TGTCGAAGCTCTTCCTCCAG -3'

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

Posted On

2018-02-28