Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Prx'

730529

Institutional Source

Beutler Lab

Gene Symbol

Prx

Ensembl Gene

ENSMUSG00000053198

Gene Name

periaxin

Synonyms

L-Periaxin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27198730-27219466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27217411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 776 (D776E)

Ref Sequence

ENSEMBL: ENSMUSP00000066110 (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
AA Change: D776E

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000066110
Gene: ENSMUSG00000053198
AA Change: D776E

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
AA Change: D776E

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096241
Gene: ENSMUSG00000053198
AA Change: D776E

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
AA Change: D637E

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,668,900 (GRCm39)	N2552I	probably damaging	Het
Amph	G	T	13: 19,309,253 (GRCm39)	A444S	probably benign	Het
Ankrd52	A	G	10: 128,216,457 (GRCm39)	N157S	probably benign	Het
Arhgap29	T	C	3: 121,797,920 (GRCm39)	F537L	probably benign	Het
Asic1	A	C	15: 99,590,657 (GRCm39)	T136P	probably damaging	Het
Atg2b	T	C	12: 105,605,561 (GRCm39)	Y1468C	probably benign	Het
Atm	A	G	9: 53,427,817 (GRCm39)	L431P	probably damaging	Het
Atosb	T	C	4: 43,036,050 (GRCm39)	H227R	probably damaging	Het
Btaf1	A	G	19: 36,922,646 (GRCm39)	T17A	probably benign	Het
Car10	A	G	11: 93,195,367 (GRCm39)	N58S	probably benign	Het
Cd79b	A	T	11: 106,202,845 (GRCm39)	D252E	probably damaging	Het
Cdipt	C	T	7: 126,576,202 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,165 (GRCm39)	D84G	probably damaging	Het
Cenpj	T	C	14: 56,790,453 (GRCm39)	E532G	probably benign	Het
Cherp	A	G	8: 73,216,920 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,071,109 (GRCm39)	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,374,603 (GRCm39)	T9I	probably benign	Het
Clspn	G	T	4: 126,458,756 (GRCm39)	A280S	possibly damaging	Het
Cts3	T	G	13: 61,712,799 (GRCm39)	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,556,493 (GRCm39)	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,582,447 (GRCm39)	R386H	probably damaging	Het
Dhx58	A	T	11: 100,592,133 (GRCm39)	M305K	probably benign	Het
Dlgap3	T	C	4: 127,129,287 (GRCm39)	L894P	probably damaging	Het
Dnah3	A	T	7: 119,574,299 (GRCm39)	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,608,044 (GRCm39)	N183S	probably benign	Het
Drd5	G	T	5: 38,478,090 (GRCm39)	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,135,622 (GRCm39)	E159G	probably damaging	Het
Exoc1	T	A	5: 76,711,079 (GRCm39)	S659R	probably benign	Het
Fbln7	T	C	2: 128,719,314 (GRCm39)	I37T	probably benign	Het
Fcgrt	T	G	7: 44,744,853 (GRCm39)	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,900,202 (GRCm39)	S304T	probably damaging	Het
Gbp9	C	A	5: 105,253,587 (GRCm39)	G43*	probably null	Het
Gucy2d	A	G	7: 98,123,868 (GRCm39)	K151R	probably benign	Het
Heatr4	T	A	12: 84,024,829 (GRCm39)	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,485,378 (GRCm39)	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrnr	A	T	3: 93,227,987 (GRCm39)	E35V	probably damaging	Het
Idua	C	T	5: 108,818,037 (GRCm39)	Q70*	probably null	Het
Klf5	A	T	14: 99,539,189 (GRCm39)	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,701,164 (GRCm39)	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,158,395 (GRCm39)	D1721E		Het
Mdh1	T	A	11: 21,521,870 (GRCm39)		probably benign	Het
Mllt11	T	C	3: 95,127,521 (GRCm39)	H83R	probably benign	Het
Mrgprb4	A	C	7: 47,848,583 (GRCm39)	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,023,296 (GRCm39)	F319S	probably damaging	Het
Naif1	A	T	2: 32,344,907 (GRCm39)	M204L	probably benign	Het
Ncan	T	A	8: 70,554,628 (GRCm39)	D1063V	probably damaging	Het
Noto	A	T	6: 85,401,327 (GRCm39)	R119W	possibly damaging	Het
Or4c115	G	A	2: 88,927,573 (GRCm39)	L233F	probably benign	Het
Or51h7	A	T	7: 102,591,165 (GRCm39)	D206E	probably damaging	Het
Or6c69	T	A	10: 129,748,048 (GRCm39)	Y33F	probably damaging	Het
Or8b3	A	T	9: 38,314,841 (GRCm39)	I224F	probably damaging	Het
Ovch2	A	G	7: 107,393,584 (GRCm39)	W181R	probably damaging	Het
Palm	G	C	10: 79,655,117 (GRCm39)	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,205,787 (GRCm39)	L591*	probably null	Het
Pik3c2g	T	C	6: 139,841,910 (GRCm39)	S772P		Het
Ptpra	A	G	2: 130,384,366 (GRCm39)	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,807,359 (GRCm39)	Y25C	probably damaging	Het
Reln	T	C	5: 22,136,427 (GRCm39)	T2534A	probably benign	Het
Rnf123	T	C	9: 107,954,963 (GRCm39)	S14G	probably benign	Het
Rock2	A	G	12: 17,015,602 (GRCm39)	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,111 (GRCm39)	V87A	possibly damaging	Het
S100b	G	A	10: 76,092,936 (GRCm39)	G23D	probably damaging	Het
Scn9a	T	A	2: 66,357,002 (GRCm39)	M1100L	probably benign	Het
Septin11	T	A	5: 93,296,266 (GRCm39)	S55T	possibly damaging	Het
Speer4a3	T	C	5: 26,154,829 (GRCm39)	E257G	probably damaging	Het
Sv2b	T	A	7: 74,769,676 (GRCm39)	Q622L	probably benign	Het
Taar7a	T	C	10: 23,868,799 (GRCm39)	D194G	probably benign	Het
Trappc3	T	C	4: 126,169,014 (GRCm39)	I168T	probably benign	Het
Trim27	T	C	13: 21,374,296 (GRCm39)		probably null	Het
Wdr49	G	A	3: 75,304,359 (GRCm39)	T109I	probably benign	Het
Wdr64	T	C	1: 175,544,854 (GRCm39)	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,247,049 (GRCm39)	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,593,829 (GRCm39)	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,312,332 (GRCm39)	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,539,334 (GRCm39)	A289T	probably benign	Het
Zscan5b	T	C	7: 6,234,525 (GRCm39)	S184P	possibly damaging	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
R2356:Prx	UTSW	7	27,207,284 (GRCm39)	start gained	probably benign
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
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

PCR Primer
(F):5'- TTCCCAAGATGCCAGAGATGAAG -3'
(R):5'- GAGTGACAATCTCCACAGAGGG -3'

Sequencing Primer
(F):5'- AGATGAAGTTGTCCAAGGTTCC -3'
(R):5'- TCTCCACAGAGGGCACACG -3'

Posted On

2022-10-06