Mutagenetix > Incidental Mutation

Incidental Mutation 'R1815:Prx'

202625

Institutional Source

Beutler Lab

Gene Symbol

Prx

Ensembl Gene

ENSMUSG00000053198

Gene Name

periaxin

Synonyms

L-Periaxin

MMRRC Submission

039843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1815 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

27198730-27219466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27216090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 197 (D197V)

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 damaging
Transcript: ENSMUST00000065487
AA Change: D336V

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

SMART Domains

Protein: ENSMUSP00000066110
Gene: ENSMUSG00000053198
AA Change: D336V

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 damaging
Transcript: ENSMUST00000098644
AA Change: D336V

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

SMART Domains

Protein: ENSMUSP00000096241
Gene: ENSMUSG00000053198
AA Change: D336V

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 damaging
Transcript: ENSMUST00000125990
AA Change: D197V

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

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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
Adamts4	A	G	1: 171,083,905 (GRCm39)	T492A	probably damaging	Het
Afg3l2	A	T	18: 67,548,643 (GRCm39)	L529*	probably null	Het
Ak9	A	G	10: 41,213,572 (GRCm39)	E259G	probably damaging	Het
Apol11b	T	A	15: 77,519,772 (GRCm39)	I103F	probably damaging	Het
Atp7b	T	C	8: 22,501,667 (GRCm39)	M864V	possibly damaging	Het
Atp8a2	A	G	14: 60,324,073 (GRCm39)	L60P	probably damaging	Het
Begain	T	C	12: 109,000,033 (GRCm39)	Y451C	probably damaging	Het
Bmpr1b	A	T	3: 141,586,124 (GRCm39)	I46N	probably benign	Het
Bms1	T	A	6: 118,360,742 (GRCm39)	K1242M	probably damaging	Het
Calcoco1	A	G	15: 102,622,358 (GRCm39)	L254P	probably damaging	Het
Ccdc112	A	T	18: 46,424,173 (GRCm39)	N188K	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkal1	A	G	13: 29,901,774 (GRCm39)	V132A	possibly damaging	Het
Cdo1	A	G	18: 46,853,369 (GRCm39)	C130R	probably damaging	Het
Cep295nl	G	T	11: 118,223,474 (GRCm39)	R457S	probably damaging	Het
Cntn1	A	T	15: 92,148,829 (GRCm39)	I359F	probably benign	Het
Csnk1g1	T	C	9: 65,939,606 (GRCm39)	V435A	probably damaging	Het
Csnka2ip	A	G	16: 64,298,855 (GRCm39)	V59A	probably benign	Het
Ddr2	A	T	1: 169,823,170 (GRCm39)	Y371*	probably null	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Dnah2	T	C	11: 69,366,400 (GRCm39)	I1901V	probably damaging	Het
Fanci	T	A	7: 79,088,056 (GRCm39)	I903N	probably damaging	Het
Fastk	T	C	5: 24,646,529 (GRCm39)	Q471R	probably damaging	Het
Flvcr1	A	T	1: 190,757,577 (GRCm39)	N238K	probably damaging	Het
Gsdmc3	A	T	15: 63,740,965 (GRCm39)	L61H	probably damaging	Het
H2-M10.5	T	A	17: 37,084,836 (GRCm39)	C187S	probably damaging	Het
Hmcn2	T	C	2: 31,283,055 (GRCm39)	I1977T	probably damaging	Het
Itpr2	T	A	6: 146,260,914 (GRCm39)	I905F	probably benign	Het
Jmy	C	T	13: 93,590,585 (GRCm39)	G506D	probably damaging	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Klhdc7b	A	G	15: 89,271,800 (GRCm39)	E894G	probably damaging	Het
Klra7	T	C	6: 130,201,070 (GRCm39)	I229V	probably benign	Het
Krt35	T	C	11: 99,986,565 (GRCm39)	T150A	probably benign	Het
Krtap20-1	T	C	16: 88,812,337 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,227,896 (GRCm39)	Y1199C	probably damaging	Het
Lmbrd1	T	A	1: 24,724,642 (GRCm39)	N75K	possibly damaging	Het
Lss	T	C	10: 76,388,798 (GRCm39)	S700P	probably damaging	Het
Ltbp1	A	T	17: 75,559,375 (GRCm39)	Q288L	probably benign	Het
Mical2	A	G	7: 112,012,109 (GRCm39)	E653G	probably damaging	Het
Mphosph10	G	T	7: 64,041,918 (GRCm39)	Q9K	probably benign	Het
Muc15	T	A	2: 110,561,603 (GRCm39)	L13Q	probably damaging	Het
Ncf4	A	G	15: 78,134,602 (GRCm39)	D18G	probably benign	Het
Nipsnap1	A	G	11: 4,839,101 (GRCm39)	Y127C	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Or8g18	T	C	9: 39,149,286 (GRCm39)	I145V	probably benign	Het
Otud4	T	A	8: 80,366,618 (GRCm39)	Y28*	probably null	Het
Pdcd2l	G	A	7: 33,885,826 (GRCm39)	T286I	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Phlpp2	C	A	8: 110,666,855 (GRCm39)	T1128K	probably damaging	Het
Pik3cb	A	G	9: 98,975,148 (GRCm39)	V244A	possibly damaging	Het
Pld1	A	G	3: 28,163,917 (GRCm39)	I783M	probably benign	Het
Plk5	T	C	10: 80,199,855 (GRCm39)	V454A	probably benign	Het
Prkci	T	C	3: 31,092,644 (GRCm39)	S309P	probably damaging	Het
Ptpn5	A	G	7: 46,728,589 (GRCm39)	L537P	probably benign	Het
Rev3l	T	A	10: 39,698,867 (GRCm39)	N1121K	probably benign	Het
Rock2	T	A	12: 17,022,727 (GRCm39)	D1055E	probably benign	Het
Rrp1b	T	C	17: 32,275,785 (GRCm39)	V444A	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
S1pr2	G	A	9: 20,879,388 (GRCm39)	R147*	probably null	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Smc6	T	C	12: 11,344,602 (GRCm39)		probably null	Het
Srsf11	C	T	3: 157,722,064 (GRCm39)		probably benign	Het
Sstr1	T	C	12: 58,260,264 (GRCm39)	F296L	possibly damaging	Het
Tecrl	T	A	5: 83,427,081 (GRCm39)	I356L	probably benign	Het
Tln2	A	G	9: 67,136,705 (GRCm39)	I2348T	probably damaging	Het
Tmed11	T	A	5: 108,925,291 (GRCm39)	I174L	probably benign	Het
Tmem132a	G	A	19: 10,838,931 (GRCm39)	Q504*	probably null	Het
Unc5c	A	T	3: 141,463,518 (GRCm39)	D213V	probably damaging	Het
Utp25	A	C	1: 192,800,591 (GRCm39)	S410A	probably benign	Het
Vgll4	T	C	6: 114,841,020 (GRCm39)	D92G	probably benign	Het
Vps37a	T	C	8: 40,965,162 (GRCm39)	F5L	probably benign	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zeb1	G	A	18: 5,767,898 (GRCm39)	C803Y	probably damaging	Het
Zmym1	T	C	4: 126,942,814 (GRCm39)	T427A	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
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
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

PCR Primer
(F):5'- TCAGGTCTCAGTTCCCAAGG -3'
(R):5'- TTCGAAGTCTGGGACCCTTTG -3'

Sequencing Primer
(F):5'- AACCCTTGGGCTAGGTGC -3'
(R):5'- GGGACCCTTTGCTTTGGCC -3'

Posted On

2014-06-23