Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Prph'

645644

Institutional Source

Beutler Lab

Gene Symbol

Prph

Ensembl Gene

ENSMUSG00000023484

Gene Name

peripherin

Synonyms

Prph1

MMRRC Submission

067805-MU

Accession Numbers

Essential gene?

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

Stock #

R8353 (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 A at 98954657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 241 (R241Q)

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 benign
Transcript: ENSMUST00000024249
AA Change: R241Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: R241Q

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: R241Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: R241Q

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: R16Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000230021
AA Change: R241Q

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	T	9: 101,815,884 (GRCm39)	C23F	possibly damaging	Het
Adam29	T	C	8: 56,326,196 (GRCm39)	H86R	possibly damaging	Het
Alas1	C	T	9: 106,113,721 (GRCm39)	R508Q	possibly damaging	Het
Albfm1	A	T	5: 90,714,360 (GRCm39)	R123S	possibly damaging	Het
Ark2n	T	C	18: 77,761,604 (GRCm39)	E236G	probably damaging	Het
Bmp3	G	A	5: 99,003,282 (GRCm39)		probably null	Het
Bud13	A	G	9: 46,199,499 (GRCm39)	T287A	probably benign	Het
C3	T	C	17: 57,519,643 (GRCm39)	E1203G	probably benign	Het
Carmil2	A	C	8: 106,416,843 (GRCm39)	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,166,458 (GRCm39)	T707S	probably damaging	Het
Cfap43	A	T	19: 47,735,086 (GRCm39)	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,927,267 (GRCm39)	*590K	probably null	Het
Commd1	C	T	11: 22,928,503 (GRCm39)		probably benign	Het
Creb3l1	A	T	2: 91,821,274 (GRCm39)	Y314*	probably null	Het
Ctc1	T	A	11: 68,913,275 (GRCm39)	S90R	probably benign	Het
Dixdc1	T	C	9: 50,596,186 (GRCm39)	Q413R	probably benign	Het
Dlg5	T	C	14: 24,208,213 (GRCm39)	T998A	probably benign	Het
Dnai4	A	G	4: 102,917,113 (GRCm39)	I577T	possibly damaging	Het
Eif1ad14	C	T	12: 87,886,323 (GRCm39)	S102N	probably benign	Het
Fam89b	A	G	19: 5,778,903 (GRCm39)	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,166,479 (GRCm39)	I400M	probably benign	Het
Gad1	A	T	2: 70,431,057 (GRCm39)	M567L	probably benign	Het
Gemin5	T	C	11: 58,016,065 (GRCm39)	S1314G	probably benign	Het
Gm9195	T	G	14: 72,678,201 (GRCm39)	I2323L	probably benign	Het
Gria1	T	A	11: 57,133,877 (GRCm39)	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,185,178 (GRCm39)	H200L	probably benign	Het
Igsf5	A	G	16: 96,222,996 (GRCm39)	Q360R	probably benign	Het
Il31ra	A	T	13: 112,660,717 (GRCm39)	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,364,779 (GRCm39)	R837G	probably damaging	Het
Itprid2	T	C	2: 79,475,129 (GRCm39)	S363P	probably benign	Het
Lpl	A	G	8: 69,348,433 (GRCm39)	I221V	probably damaging	Het
Mink1	T	A	11: 70,501,154 (GRCm39)	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,203 (GRCm39)	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,965,361 (GRCm39)	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,223,137 (GRCm39)	V460E	probably damaging	Het
Nicn1	T	A	9: 108,170,572 (GRCm39)	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,449,528 (GRCm39)	Y577C	probably damaging	Het
Nrap	T	C	19: 56,312,352 (GRCm39)	T1535A	probably damaging	Het
Opa1	G	A	16: 29,439,686 (GRCm39)	R755H	probably damaging	Het
Phldb2	A	G	16: 45,645,385 (GRCm39)	S354P	probably benign	Het
Phykpl	T	C	11: 51,489,121 (GRCm39)	S316P	probably damaging	Het
Pnpla1	T	A	17: 29,077,873 (GRCm39)	D11E	probably benign	Het
Pold2	A	G	11: 5,825,104 (GRCm39)	F98L	probably damaging	Het
Rcl1	T	C	19: 29,093,159 (GRCm39)	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,514,151 (GRCm39)	N117D	probably benign	Het
Sars1	G	A	3: 108,336,029 (GRCm39)	S331L	probably benign	Het
Scfd1	A	C	12: 51,459,374 (GRCm39)	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,808,166 (GRCm39)	C363R	probably benign	Het
Senp7	A	G	16: 56,008,691 (GRCm39)	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sptbn4	A	G	7: 27,103,663 (GRCm39)	L1191P	probably damaging	Het
Stk40	A	G	4: 126,022,766 (GRCm39)	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,684,792 (GRCm39)	V536E	probably benign	Het
Tex15	G	T	8: 34,066,899 (GRCm39)	E2110*	probably null	Het
Thbs4	G	A	13: 92,927,325 (GRCm39)	P55S	probably benign	Het
Tmem115	T	C	9: 107,411,997 (GRCm39)	V107A	probably benign	Het
Tnfaip6	A	C	2: 51,945,879 (GRCm39)	I242L	probably benign	Het
Trabd	G	T	15: 88,969,616 (GRCm39)	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,136,947 (GRCm39)	I86F	probably damaging	Het
Trpc7	A	G	13: 56,970,372 (GRCm39)	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,613,886 (GRCm39)	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,485,373 (GRCm39)	D707V	probably damaging	Het
Vnn3	G	A	10: 23,745,443 (GRCm39)	R464H	probably benign	Het
Wdr27	T	C	17: 15,112,751 (GRCm39)	T652A	probably benign	Het
Yeats2	C	T	16: 20,041,637 (GRCm39)	R1176*	probably null	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
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'- TTAAGGGCAACTTGGGCTCAG -3'
(R):5'- TCCGACAGGTCAGCATACTG -3'

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

Posted On

2020-09-02