Mutagenetix > Incidental Mutation

Incidental Mutation 'R2356:Prx'

266135

Institutional Source

Beutler Lab

Gene Symbol

Prx

Ensembl Gene

ENSMUSG00000053198

Gene Name

periaxin

Synonyms

L-Periaxin

MMRRC Submission

040338-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2356 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

27198730-27219466 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 27207284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065487] [ENSMUST00000098644] [ENSMUST00000108355] [ENSMUST00000125990]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065487

SMART Domains

Protein: ENSMUSP00000066110
Gene: ENSMUSG00000053198

Domain	Start	End	E-Value	Type
PDZ	28	100	6.83e-8	SMART
low complexity region	179	232	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
internal_repeat_3	316	419	9.05e-5	PROSPERO
internal_repeat_2	317	428	7.28e-6	PROSPERO
internal_repeat_1	321	508	8.09e-9	PROSPERO
internal_repeat_1	503	779	8.09e-9	PROSPERO
internal_repeat_2	840	974	7.28e-6	PROSPERO
internal_repeat_3	1176	1268	9.05e-5	PROSPERO
low complexity region	1275	1314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098644

SMART Domains

Protein: ENSMUSP00000096241
Gene: ENSMUSG00000053198

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDZ	28	100	6.83e-8	SMART
low complexity region	179	232	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
internal_repeat_3	316	419	5.13e-5	PROSPERO
internal_repeat_2	317	428	3.79e-6	PROSPERO
internal_repeat_1	321	508	3.34e-9	PROSPERO
internal_repeat_1	503	779	3.34e-9	PROSPERO
internal_repeat_2	840	974	3.79e-6	PROSPERO
internal_repeat_3	1176	1268	5.13e-5	PROSPERO
low complexity region	1275	1314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108355

SMART Domains

Protein: ENSMUSP00000103992
Gene: ENSMUSG00000053198

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDZ	28	100	6.83e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147449

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	T	16: 20,379,249 (GRCm39)	R705L	probably benign	Het
Adcy6	A	T	15: 98,494,897 (GRCm39)		probably null	Het
Ank1	A	T	8: 23,575,688 (GRCm39)	T145S	probably damaging	Het
Aph1a	T	C	3: 95,801,544 (GRCm39)	F21S	probably benign	Het
Apoa5	T	A	9: 46,181,341 (GRCm39)	V139E	probably damaging	Het
Arhgap44	T	C	11: 64,900,851 (GRCm39)	K595R	probably damaging	Het
Arhgap5	C	T	12: 52,565,930 (GRCm39)	P967L	probably benign	Het
Atp13a5	A	T	16: 29,099,887 (GRCm39)	I683N	probably damaging	Het
Cdc6	A	G	11: 98,810,118 (GRCm39)	T476A	probably benign	Het
Cdk10	T	C	8: 123,955,908 (GRCm39)	V199A	probably damaging	Het
Ces2h	G	A	8: 105,742,570 (GRCm39)	C94Y	probably damaging	Het
Clcn1	G	A	6: 42,268,559 (GRCm39)	G155D	probably damaging	Het
Cxcr4	A	G	1: 128,517,251 (GRCm39)	Y135H	probably damaging	Het
Dapp1	A	G	3: 137,643,510 (GRCm39)	V184A	possibly damaging	Het
Dhrs7	A	C	12: 72,699,155 (GRCm39)	S276A	probably benign	Het
Dlg5	A	G	14: 24,220,496 (GRCm39)		probably null	Het
Dnaaf1	T	A	8: 120,315,026 (GRCm39)	F278Y	probably damaging	Het
Dnaaf2	A	G	12: 69,244,992 (GRCm39)	F23S	probably benign	Het
En2	G	T	5: 28,371,330 (GRCm39)		probably benign	Het
Erbb4	T	A	1: 68,117,755 (GRCm39)	M887L	probably benign	Het
Exoc5	T	C	14: 49,253,738 (GRCm39)	M482V	probably benign	Het
Foxk1	A	G	5: 142,441,164 (GRCm39)	I571V	possibly damaging	Het
Fry	G	A	5: 150,394,897 (GRCm39)	G650D	probably benign	Het
Gm8225	T	C	17: 26,762,378 (GRCm39)	S190P	probably damaging	Het
Gpx5	G	C	13: 21,475,538 (GRCm39)	H63D	possibly damaging	Het
Ipo9	A	T	1: 135,334,555 (GRCm39)	S285T	probably benign	Het
Itga8	T	C	2: 12,204,952 (GRCm39)	H495R	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Krtap8-1	A	T	16: 89,284,789 (GRCm39)	Y3N	possibly damaging	Het
Krtap8-1	G	T	16: 89,284,790 (GRCm39)	Y2*	probably null	Het
Lama1	T	A	17: 68,117,109 (GRCm39)	L2468Q	probably damaging	Het
Lmo7	T	C	14: 102,124,381 (GRCm39)	L280S	probably damaging	Het
Matk	G	A	10: 81,097,377 (GRCm39)		probably null	Het
Mcmdc2	A	G	1: 10,001,026 (GRCm39)	T434A	possibly damaging	Het
Mst1r	T	A	9: 107,795,069 (GRCm39)	L1283Q	probably damaging	Het
Muc21	A	G	17: 35,932,563 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,970,863 (GRCm39)	I282N	probably damaging	Het
Ncln	A	G	10: 81,328,756 (GRCm39)	V174A	probably benign	Het
Nipa2	G	A	7: 55,582,714 (GRCm39)	H344Y	probably benign	Het
Nlrp4g	A	G	9: 124,349,306 (GRCm38)		noncoding transcript	Het
Or56b1	G	T	7: 104,285,834 (GRCm39)	E318*	probably null	Het
Or6c38	T	C	10: 128,929,761 (GRCm39)	I27M	probably benign	Het
Pik3r5	T	C	11: 68,383,743 (GRCm39)	S521P	probably damaging	Het
Pkhd1l1	C	T	15: 44,396,415 (GRCm39)	T1979M	probably benign	Het
Plekhn1	T	G	4: 156,307,158 (GRCm39)	D464A	probably damaging	Het
Ppp4r1	T	A	17: 66,140,045 (GRCm39)	Y648N	probably damaging	Het
Prkaa2	C	T	4: 104,896,918 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,502,068 (GRCm39)	H828Q	probably benign	Het
Prss40	A	T	1: 34,598,984 (GRCm39)	Y69*	probably null	Het
Psmd11	T	A	11: 80,319,530 (GRCm39)	S7T	possibly damaging	Het
Psmd14	A	T	2: 61,630,351 (GRCm39)	H287L	probably benign	Het
Rcor1	T	C	12: 111,076,226 (GRCm39)	Y297H	probably damaging	Het
Rnf40	T	G	7: 127,190,748 (GRCm39)	V272G	probably damaging	Het
Serpina3f	G	T	12: 104,183,626 (GRCm39)	E163*	probably null	Het
Setd4	G	A	16: 93,387,871 (GRCm39)	T205I	probably damaging	Het
Shroom1	A	T	11: 53,357,274 (GRCm39)	T646S	probably benign	Het
Smg8	G	C	11: 86,976,554 (GRCm39)	S342R	probably benign	Het
Spata31h1	A	G	10: 82,119,789 (GRCm39)	V4407A	possibly damaging	Het
Trhde	T	C	10: 114,237,421 (GRCm39)	Y986C	probably damaging	Het
Tulp2	A	T	7: 45,168,052 (GRCm39)	T155S	possibly damaging	Het
Vmn1r212	A	T	13: 23,068,120 (GRCm39)	L71*	probably null	Het
Wnk2	A	T	13: 49,192,644 (GRCm39)	C2032*	probably null	Het
Zfp429	A	G	13: 67,538,746 (GRCm39)	Y233H	probably benign	Het
Zfp809	C	A	9: 22,154,336 (GRCm39)	T351K	probably benign	Het

Other mutations in Prx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Prx	APN	7	27,218,844 (GRCm39)	missense	probably benign	0.12
IGL01702:Prx	APN	7	27,219,212 (GRCm39)	missense	probably benign	0.00
IGL02012:Prx	APN	7	27,217,326 (GRCm39)	missense	probably damaging	1.00
IGL02214:Prx	APN	7	27,218,337 (GRCm39)	missense	probably damaging	1.00
IGL02498:Prx	APN	7	27,217,497 (GRCm39)	missense	probably damaging	1.00
IGL03029:Prx	APN	7	27,207,486 (GRCm39)	nonsense	probably null
R0522:Prx	UTSW	7	27,217,620 (GRCm39)	missense	probably damaging	0.99
R0655:Prx	UTSW	7	27,216,846 (GRCm39)	missense	probably damaging	1.00
R0904:Prx	UTSW	7	27,217,719 (GRCm39)	missense	probably damaging	1.00
R1161:Prx	UTSW	7	27,219,102 (GRCm39)	missense	probably damaging	1.00
R1170:Prx	UTSW	7	27,217,432 (GRCm39)	nonsense	probably null
R1270:Prx	UTSW	7	27,218,355 (GRCm39)	missense	probably damaging	0.96
R1470:Prx	UTSW	7	27,217,026 (GRCm39)	missense	probably benign	0.19
R1470:Prx	UTSW	7	27,217,026 (GRCm39)	missense	probably benign	0.19
R1536:Prx	UTSW	7	27,216,683 (GRCm39)	missense	probably damaging	0.99
R1721:Prx	UTSW	7	27,216,948 (GRCm39)	missense	probably benign	0.19
R1815:Prx	UTSW	7	27,216,090 (GRCm39)	missense	probably damaging	1.00
R1848:Prx	UTSW	7	27,218,313 (GRCm39)	missense	possibly damaging	0.70
R1894:Prx	UTSW	7	27,218,535 (GRCm39)	missense	possibly damaging	0.68
R2179:Prx	UTSW	7	27,217,410 (GRCm39)	missense	probably benign
R2207:Prx	UTSW	7	27,216,213 (GRCm39)	missense	probably damaging	1.00
R2312:Prx	UTSW	7	27,216,051 (GRCm39)	missense	possibly damaging	0.87
R2519:Prx	UTSW	7	27,217,668 (GRCm39)	missense	probably benign	0.43
R2912:Prx	UTSW	7	27,215,654 (GRCm39)	missense	probably damaging	1.00
R4717:Prx	UTSW	7	27,216,152 (GRCm39)	missense	probably benign	0.07
R4868:Prx	UTSW	7	27,217,004 (GRCm39)	missense	probably benign	0.01
R5153:Prx	UTSW	7	27,217,901 (GRCm39)	missense	probably damaging	1.00
R5418:Prx	UTSW	7	27,216,699 (GRCm39)	missense	probably damaging	0.99
R5653:Prx	UTSW	7	27,217,029 (GRCm39)	missense	probably damaging	1.00
R5895:Prx	UTSW	7	27,214,709 (GRCm39)	missense	probably damaging	1.00
R6022:Prx	UTSW	7	27,216,998 (GRCm39)	missense	probably damaging	1.00
R6112:Prx	UTSW	7	27,215,973 (GRCm39)	missense	probably damaging	1.00
R6223:Prx	UTSW	7	27,216,261 (GRCm39)	missense	probably damaging	1.00
R6560:Prx	UTSW	7	27,214,746 (GRCm39)	missense	probably damaging	1.00
R6888:Prx	UTSW	7	27,219,059 (GRCm39)	missense	possibly damaging	0.73
R7530:Prx	UTSW	7	27,207,397 (GRCm39)	missense	probably damaging	1.00
R7854:Prx	UTSW	7	27,216,066 (GRCm39)	missense	probably damaging	1.00
R8258:Prx	UTSW	7	27,218,808 (GRCm39)	missense	probably damaging	1.00
R8259:Prx	UTSW	7	27,218,808 (GRCm39)	missense	probably damaging	1.00
R8831:Prx	UTSW	7	27,217,538 (GRCm39)	missense	probably damaging	0.99
R9335:Prx	UTSW	7	27,217,496 (GRCm39)	missense	probably damaging	1.00
R9602:Prx	UTSW	7	27,218,445 (GRCm39)	missense	possibly damaging	0.93
R9717:Prx	UTSW	7	27,217,411 (GRCm39)	missense	probably benign	0.32
RF009:Prx	UTSW	7	27,218,385 (GRCm39)	missense	probably damaging	1.00
X0028:Prx	UTSW	7	27,217,158 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2015-02-05