Mutagenetix > Incidental Mutation

Incidental Mutation 'R7818:Prph'

601698

Institutional Source

Beutler Lab

Gene Symbol

Prph

Ensembl Gene

ENSMUSG00000023484

Gene Name

peripherin

Synonyms

Prph1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99055174-99058978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99057872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 446 (T446A)

Ref Sequence

ENSEMBL: ENSMUSP00000024249 (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: T446A

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

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: T446A

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: T478A

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

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: T478A

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: T478A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (88/89)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,304,221	R342S	probably benign	Het
Aatk	C	T	11: 120,021,455	V55I	probably benign	Het
Abhd10	T	A	16: 45,737,553	I128L	probably benign	Het
Abraxas1	T	A	5: 100,806,310	M325L	probably benign	Het
Adgrb2	C	A	4: 130,014,560	L1087I	probably damaging	Het
Adgrb2	C	T	4: 130,014,969	P1124S	possibly damaging	Het
Akap9	T	A	5: 4,013,875	Y1741*	probably null	Het
Ap1g2	A	T	14: 55,099,724	V718D	probably benign	Het
Asph	A	T	4: 9,475,015	M637K	probably damaging	Het
Atp2c1	T	C	9: 105,414,757	I869V	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1e	T	C	1: 154,398,406	D2251G	probably damaging	Het
Camk2b	A	G	11: 5,977,812	S413P	probably benign	Het
Casz1	G	A	4: 148,946,076	C1184Y	probably damaging	Het
Cbr4	G	A	8: 61,487,942	V32I	probably benign	Het
Ccdc166	A	G	15: 75,981,015	S368P	possibly damaging	Het
Ccdc170	A	G	10: 4,549,603	N508S	probably benign	Het
Ccdc187	A	G	2: 26,276,174	S748P	possibly damaging	Het
Cdca8	A	T	4: 124,926,663		probably null	Het
Cep120	T	C	18: 53,723,103	D414G	probably benign	Het
Dcp1a	G	T	14: 30,479,721	A34S	probably damaging	Het
Ddit3	C	T	10: 127,295,793	T70I	probably benign	Het
Dlg2	C	G	7: 91,940,017	A313G	probably damaging	Het
Dnah9	A	T	11: 66,025,211	V2305D	possibly damaging	Het
Dock1	T	A	7: 134,763,865	D427E	probably damaging	Het
Dolpp1	T	C	2: 30,396,491	L141P	probably benign	Het
Dsc2	A	T	18: 20,050,132	D76E	probably damaging	Het
Dusp7	C	A	9: 106,369,130	N111K	probably benign	Het
Fam193a	A	G	5: 34,465,653	E1195G	possibly damaging	Het
Fig4	A	G	10: 41,263,166	L347P	probably damaging	Het
Frem1	T	C	4: 83,014,008	E152G	probably damaging	Het
Galnt2	G	T	8: 124,329,788	D234Y	probably damaging	Het
Hist1h1d	C	T	13: 23,554,991		probably benign	Het
Igkv4-59	T	C	6: 69,438,491	T27A	possibly damaging	Het
Ihh	T	C	1: 74,946,645	D227G	possibly damaging	Het
Il1rap	T	A	16: 26,698,847	C266S	probably damaging	Het
Iqcf4	A	T	9: 106,570,539	L57*	probably null	Het
Kif2b	A	G	11: 91,576,126	S444P	probably damaging	Het
Lmf1	T	G	17: 25,662,591	I538S	probably benign	Het
Mical2	A	G	7: 112,345,307	Y948C	probably damaging	Het
Mr1	G	A	1: 155,130,636	Q322*	probably null	Het
Mroh2a	T	C	1: 88,234,612		probably null	Het
Mup6	A	G	4: 60,004,884	T100A	probably benign	Het
Mybpc1	T	A	10: 88,558,667	D266V	probably damaging	Het
Myocos	T	C	1: 162,647,494	N48S	unknown	Het
Naf1	G	A	8: 66,889,376	G551E	probably damaging	Het
Nrarp	A	G	2: 25,181,238	N43S	possibly damaging	Het
Olfr1253	A	G	2: 89,751,944	S295P	possibly damaging	Het
Olfr19	A	C	16: 16,673,573	M136R	probably damaging	Het
Olfr472	G	A	7: 107,903,023	C102Y	probably benign	Het
Olfr832	T	A	9: 18,945,009	Y120*	probably null	Het
Olfr983	T	A	9: 40,092,712	M85L	probably damaging	Het
Padi3	T	A	4: 140,798,142	T177S	possibly damaging	Het
Pde3b	A	G	7: 114,491,440	M305V	probably damaging	Het
Pde6a	T	A	18: 61,281,509		probably null	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Pwwp2b	T	C	7: 139,255,324	V227A	probably benign	Het
Rev3l	T	C	10: 39,823,902	I1465T	possibly damaging	Het
Rin1	A	G	19: 5,052,191	S243G	probably benign	Het
Ripor3	A	T	2: 167,989,426	I485N	probably benign	Het
Rnpc3	G	T	3: 113,629,951	P35Q	probably damaging	Het
Sbpl	G	T	17: 23,953,262	Q228K	unknown	Het
Scn11a	A	C	9: 119,784,111	N804K	probably damaging	Het
Selenoo	A	G	15: 89,096,816	T453A	probably damaging	Het
Sez6	C	T	11: 77,976,902	P882S	probably damaging	Het
Skint5	C	T	4: 113,942,726	R82H	possibly damaging	Het
Slc18a2	A	C	19: 59,263,161	T115P	probably benign	Het
Slc1a2	A	G	2: 102,743,956	D237G	probably benign	Het
Spidr	T	C	16: 16,114,865	S184G	probably damaging	Het
Stag3	A	T	5: 138,301,443	Q872L	probably benign	Het
Suds3	T	C	5: 117,115,749		probably benign	Het
Sv2c	T	A	13: 95,986,820	K382*	probably null	Het
Taf2	T	C	15: 55,065,930	I77V	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tdrd3	G	T	14: 87,472,200	C100F	probably damaging	Het
Tek	T	A	4: 94,827,716	H458Q	possibly damaging	Het
Tes	C	A	6: 17,099,744	P246Q	probably damaging	Het
Tgif1	A	T	17: 70,849,608		probably null	Het
Tlr11	A	T	14: 50,361,828	N424Y	probably damaging	Het
Tmc8	A	T	11: 117,792,127	N626I	probably damaging	Het
Tmem132c	T	A	5: 127,564,088	*1108K	probably null	Het
Tnks	A	T	8: 34,873,028	Y479N	probably benign	Het
Trip12	C	T	1: 84,760,806	G776D	probably damaging	Het
Tssk1	A	G	16: 17,894,447	E32G	probably benign	Het
Ube2o	T	C	11: 116,543,910	D575G	probably damaging	Het
Uckl1	A	T	2: 181,574,667	M16K	probably damaging	Het
Zfp948	A	T	17: 21,587,723	E392D	probably benign	Het
Zmynd8	G	A	2: 165,842,831	T167I	probably 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
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
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'- CGAGATTGCTTCCTTCCCA -3'
(R):5'- ATCCACTCATCTGTCTGGTGTTC -3'

Sequencing Primer
(F):5'- ATATACTGAGGCTCCTGTCCTTCAG -3'
(R):5'- CTCAGCAGGTAGAGGAACTTGTCAC -3'

Posted On

2019-12-03