Mutagenetix > Incidental Mutation

Incidental Mutation 'R7356:Prph'

570988

Institutional Source

Beutler Lab

Gene Symbol

Prph

Ensembl Gene

ENSMUSG00000023484

Gene Name

peripherin

Synonyms

Prph1

MMRRC Submission

045442-MU

Accession Numbers

Essential gene?

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

Stock #

R7356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98953055-98956859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98954807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 291 (Y291C)

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 null
Transcript: ENSMUST00000024249
AA Change: Y291C

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

SMART Domains

Protein: ENSMUSP00000024249
Gene: ENSMUSG00000023484
AA Change: Y291C

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: Y291C

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

SMART Domains

Protein: ENSMUSP00000049303
Gene: ENSMUSG00000023484
AA Change: Y291C

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: Y291C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	T	4: 49,383,507 (GRCm39)	D15E	probably damaging	Het
Adamts16	G	A	13: 70,984,399 (GRCm39)	T88I	probably benign	Het
Akap6	A	C	12: 52,958,647 (GRCm39)	N801H	probably damaging	Het
Ankfn1	G	T	11: 89,325,599 (GRCm39)	N524K	probably damaging	Het
Ap5s1	A	G	2: 131,054,582 (GRCm39)	N131S	probably damaging	Het
Astn2	A	T	4: 66,103,503 (GRCm39)	D303E	unknown	Het
Babam1	T	C	8: 71,852,208 (GRCm39)	V132A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTT	CACTGGTTCTATGGTGACTGGTT	3: 95,795,495 (GRCm39)		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTCCTGTGGTCACTGGT	3: 95,795,487 (GRCm39)		probably benign	Het
BC028528	GGTCACTGGTTCTGT	GGTCACTGGTTCTGTAGTCACTGGTTCTGT	3: 95,795,477 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,795,470 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	3: 95,795,453 (GRCm39)		probably benign	Het
Cnst	C	T	1: 179,434,095 (GRCm39)	P304S	probably benign	Het
Cog4	A	T	8: 111,576,498 (GRCm39)		probably null	Het
Cyp2j13	A	T	4: 95,965,655 (GRCm39)	H17Q	probably benign	Het
Dock6	G	A	9: 21,721,195 (GRCm39)	T1662I	probably damaging	Het
Dysf	T	C	6: 84,044,443 (GRCm39)	F270S	probably damaging	Het
Erbb4	A	G	1: 68,378,514 (GRCm39)		probably null	Het
Fam120b	A	T	17: 15,627,958 (GRCm39)	Q550L	probably benign	Het
Fam83b	A	T	9: 76,400,135 (GRCm39)	F323I	probably benign	Het
Far1	T	A	7: 113,167,349 (GRCm39)	I478N	possibly damaging	Het
Gdpd5	T	A	7: 99,108,085 (GRCm39)	I554N	probably damaging	Het
Glrx3	T	C	7: 137,054,453 (GRCm39)	S79P	probably damaging	Het
Hltf	T	C	3: 20,163,534 (GRCm39)	I888T	probably damaging	Het
Hpx	A	G	7: 105,240,917 (GRCm39)	V452A	probably damaging	Het
Itk	T	G	11: 46,258,659 (GRCm39)	Q81P	possibly damaging	Het
Kdm6b	G	A	11: 69,292,991 (GRCm39)	Q1262*	probably null	Het
Lpcat2	T	C	8: 93,591,611 (GRCm39)	V85A	probably benign	Het
Lrrk2	A	T	15: 91,622,947 (GRCm39)	H1039L	probably benign	Het
Mapk3	T	C	7: 126,360,087 (GRCm39)		probably null	Het
Masp1	A	T	16: 23,288,993 (GRCm39)	N602K	possibly damaging	Het
Myo7a	T	A	7: 97,751,890 (GRCm39)	Q40L	probably benign	Het
Nek1	A	T	8: 61,573,994 (GRCm39)	M1081L	probably benign	Het
Nes	T	C	3: 87,885,058 (GRCm39)	S1106P	possibly damaging	Het
Nkpd1	A	T	7: 19,257,699 (GRCm39)	I493F	probably damaging	Het
Npsr1	C	G	9: 24,009,557 (GRCm39)	S21C	probably benign	Het
Oog1	G	A	12: 87,653,047 (GRCm39)		probably null	Het
Or11g1	G	A	14: 50,651,159 (GRCm39)	V53M	probably damaging	Het
Or5g24-ps1	G	A	2: 85,463,782 (GRCm39)	R3K	probably benign	Het
Or5k8	A	T	16: 58,644,718 (GRCm39)	M118K	probably damaging	Het
Osbpl9	G	T	4: 108,925,677 (GRCm39)	Y340*	probably null	Het
Pcyox1l	A	T	18: 61,840,621 (GRCm39)	L11Q	probably null	Het
Pdxdc1	G	A	16: 13,677,867 (GRCm39)	R255C	probably damaging	Het
Pgap1	A	G	1: 54,569,293 (GRCm39)	S358P	probably benign	Het
Pgm2l1	A	G	7: 99,917,326 (GRCm39)	Y481C	possibly damaging	Het
Plekhf1	T	C	7: 37,921,545 (GRCm39)	T8A	possibly damaging	Het
Plg	G	T	17: 12,629,798 (GRCm39)	G611C	probably damaging	Het
Prf1	A	C	10: 61,139,059 (GRCm39)	D339A	possibly damaging	Het
Rasal1	A	G	5: 120,792,890 (GRCm39)	S48G	possibly damaging	Het
Rigi	A	G	4: 40,226,600 (GRCm39)	S231P	probably benign	Het
Ripk4	T	A	16: 97,544,349 (GRCm39)	Q766L	probably damaging	Het
Scaf1	T	C	7: 44,657,208 (GRCm39)	D557G	unknown	Het
Scaper	A	T	9: 55,799,495 (GRCm39)	M190K	unknown	Het
Scn8a	A	T	15: 100,855,460 (GRCm39)	I202F	probably damaging	Het
Siglecf	A	G	7: 43,005,855 (GRCm39)	I505V	probably benign	Het
Sirpb1c	A	G	3: 15,886,297 (GRCm39)	S360P	probably benign	Het
Sla2	C	A	2: 156,720,623 (GRCm39)		probably null	Het
Slc11a1	G	T	1: 74,424,648 (GRCm39)	V544L	probably benign	Het
Slco1a5	T	A	6: 142,180,458 (GRCm39)	K648I	probably benign	Het
Sorcs1	T	A	19: 50,163,595 (GRCm39)	I1020F	possibly damaging	Het
Spen	C	A	4: 141,199,235 (GRCm39)	E3131*	probably null	Het
Sult2a7	A	T	7: 14,211,031 (GRCm39)	W162R	probably damaging	Het
Sult3a1	G	A	10: 33,742,579 (GRCm39)	E69K	probably benign	Het
Tcof1	G	T	18: 60,951,166 (GRCm39)	D1119E	unknown	Het
Tom1l2	A	T	11: 60,139,853 (GRCm39)	I272K	probably damaging	Het
Tspan5	C	T	3: 138,448,193 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,698,244 (GRCm39)	L186P		Het
Uap1l1	T	C	2: 25,251,696 (GRCm39)	E496G	possibly damaging	Het
Ube2v1	A	T	2: 167,451,115 (GRCm39)	I117N	possibly damaging	Het
Usp42	A	G	5: 143,702,842 (GRCm39)	V593A	possibly damaging	Het
Virma	T	A	4: 11,513,595 (GRCm39)	I483N	probably damaging	Het
Vwde	T	A	6: 13,192,641 (GRCm39)	I421F	probably damaging	Het
Zfp345	G	A	2: 150,314,209 (GRCm39)	H443Y	probably damaging	Het
Zfp760	A	G	17: 21,941,601 (GRCm39)	T259A	probably benign	Het
Zfp941	T	C	7: 140,392,028 (GRCm39)	I444V	possibly damaging	Het
Zfyve9	A	C	4: 108,576,212 (GRCm39)	S290A	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
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'- AACTTGGGCTCAGGTCTCAG -3'
(R):5'- TGACGTCGAGACTCGTTCATC -3'

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

Posted On

2019-09-13