Mutagenetix > Incidental Mutation

Incidental Mutation 'R9335:Prx'

707072

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 #

R9335 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27198730-27219466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 27217496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 805 (V805L)

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 damaging
Transcript: ENSMUST00000065487
AA Change: V805L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000066110
Gene: ENSMUSG00000053198
AA Change: V805L

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: V805L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096241
Gene: ENSMUSG00000053198
AA Change: V805L

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: V666L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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
4932438H23Rik	G	T	16: 90,852,830 (GRCm39)	T102K	probably damaging	Het
Afm	A	T	5: 90,698,086 (GRCm39)	D496V	probably damaging	Het
Aldh1l2	C	T	10: 83,342,510 (GRCm39)	M546I	probably damaging	Het
Apol7c	G	T	15: 77,409,889 (GRCm39)	N352K	probably benign	Het
Arfgef1	A	T	1: 10,228,236 (GRCm39)	D1319E	probably damaging	Het
Atl2	A	G	17: 80,160,207 (GRCm39)	I460T	probably benign	Het
Brms1l	C	A	12: 55,888,431 (GRCm39)	T73K	possibly damaging	Het
C1rl	A	T	6: 124,482,341 (GRCm39)	H154L	probably benign	Het
Cacna2d4	T	A	6: 119,279,014 (GRCm39)	L709Q	probably damaging	Het
Cd101	A	T	3: 100,915,431 (GRCm39)	V716D	probably benign	Het
Cd177	A	G	7: 24,443,711 (GRCm39)	S796P	probably benign	Het
D430041D05Rik	A	T	2: 104,078,674 (GRCm39)	M530K	probably damaging	Het
Dcbld2	A	T	16: 58,272,141 (GRCm39)	Q399L	probably benign	Het
Dennd4b	T	C	3: 90,175,611 (GRCm39)	Y138H	probably damaging	Het
Dmxl1	A	G	18: 49,992,187 (GRCm39)	N311S	probably damaging	Het
Dnai2	A	G	11: 114,625,489 (GRCm39)	I107V	probably benign	Het
Dync2h1	A	C	9: 7,112,149 (GRCm39)	V2480G	possibly damaging	Het
Ect2l	T	A	10: 18,077,032 (GRCm39)	T24S	probably null	Het
Egfr	C	A	11: 16,820,991 (GRCm39)	T302K	probably damaging	Het
Eid1	T	G	2: 125,515,578 (GRCm39)	I156S	possibly damaging	Het
Elmod1	A	T	9: 53,843,116 (GRCm39)	W21R	probably benign	Het
Enah	G	A	1: 181,749,450 (GRCm39)	P463L	probably damaging	Het
Epha7	A	G	4: 28,966,529 (GRCm39)	Y602C	probably benign	Het
Ermap	T	A	4: 119,035,545 (GRCm39)	Y481F	probably damaging	Het
Fam114a2	G	T	11: 57,397,748 (GRCm39)	T231N	possibly damaging	Het
Gdap1	A	G	1: 17,231,389 (GRCm39)	T245A	probably benign	Het
Glmp	T	A	3: 88,235,563 (GRCm39)	V368D	probably damaging	Het
Gm10203	C	T	6: 149,031,815 (GRCm39)	A40V	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hao2	C	A	3: 98,791,010 (GRCm39)	V55L	possibly damaging	Het
Hemgn	A	T	4: 46,394,647 (GRCm39)	S488T	probably benign	Het
Ighv12-3	C	T	12: 114,330,312 (GRCm39)	G61E	probably damaging	Het
Itga2b	T	C	11: 102,346,478 (GRCm39)	E986G	probably damaging	Het
Laptm5	T	G	4: 130,656,839 (GRCm39)	S167A		Het
Lmtk3	A	T	7: 45,442,165 (GRCm39)	Y377F	probably damaging	Het
Lrp2	A	G	2: 69,258,983 (GRCm39)	I4569T	probably benign	Het
Magi2	A	G	5: 20,866,263 (GRCm39)	N176D		Het
Mcf2l	C	A	8: 13,050,812 (GRCm39)	H356N	possibly damaging	Het
Mettl4	T	A	17: 95,042,936 (GRCm39)	Y300F	probably damaging	Het
Naaladl2	T	G	3: 24,467,532 (GRCm39)	K307N	possibly damaging	Het
Or1a1b	T	A	11: 74,097,832 (GRCm39)	D70V	probably damaging	Het
Or2aj4	G	A	16: 19,385,513 (GRCm39)	T40I	probably benign	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or6c8b	C	T	10: 128,882,614 (GRCm39)	G106E	probably damaging	Het
Phip	T	A	9: 82,814,979 (GRCm39)	M248L	probably benign	Het
Picalm	A	G	7: 89,825,491 (GRCm39)	T300A	probably benign	Het
Ppa1	T	G	10: 61,484,562 (GRCm39)	V19G	possibly damaging	Het
Ppp4r3a	T	C	12: 101,007,013 (GRCm39)	Y793C	probably damaging	Het
Prlr	A	T	15: 10,325,357 (GRCm39)	I177F	probably benign	Het
Prodh	C	A	16: 17,894,160 (GRCm39)	G457V	probably damaging	Het
Prrt3	T	C	6: 113,475,058 (GRCm39)	K55E	probably benign	Het
Ptk6	T	G	2: 180,844,146 (GRCm39)	D51A	probably damaging	Het
Rec114	T	A	9: 58,565,041 (GRCm39)	Q205L	probably null	Het
Rfwd3	T	G	8: 112,006,567 (GRCm39)	K510Q	possibly damaging	Het
Sdhb	C	T	4: 140,700,250 (GRCm39)	R117C	probably benign	Het
Serinc2	T	G	4: 130,158,220 (GRCm39)	T21P	probably benign	Het
Serpinb3a	A	C	1: 106,974,886 (GRCm39)	F216V	probably damaging	Het
Sertm1	T	C	3: 54,806,929 (GRCm39)	D32G	probably damaging	Het
Setx	A	G	2: 29,035,963 (GRCm39)	D816G	probably benign	Het
Sfxn4	T	A	19: 60,839,494 (GRCm39)	N188I	probably damaging	Het
Slc26a4	T	C	12: 31,575,553 (GRCm39)	D711G	probably damaging	Het
Sp9	T	C	2: 73,104,621 (GRCm39)	F392L	probably damaging	Het
Ssbp1	T	C	6: 40,454,955 (GRCm39)	L138P	probably damaging	Het
Sv2a	G	A	3: 96,092,588 (GRCm39)	G96E	probably damaging	Het
Tbc1d9	G	T	8: 83,937,160 (GRCm39)	G81C	possibly damaging	Het
Tmem67	G	A	4: 12,040,640 (GRCm39)	Q968*	probably null	Het
Tnni2	T	C	7: 141,998,003 (GRCm39)	S169P	probably damaging	Het
Tpk1	T	C	6: 43,446,084 (GRCm39)		probably null	Het
Unc13b	T	A	4: 43,216,123 (GRCm39)	Y141N	possibly damaging	Het
Unc13b	A	T	4: 43,255,551 (GRCm39)	E1057D	probably damaging	Het
Usf3	G	T	16: 44,041,936 (GRCm39)	G2139C	probably damaging	Het
Vmn1r36	A	T	6: 66,693,430 (GRCm39)	Y148*	probably null	Het
Vmn2r42	A	C	7: 8,197,758 (GRCm39)	M287R	probably damaging	Het
Vmn2r60	A	T	7: 41,844,332 (GRCm39)	H565L	probably damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp974	A	T	7: 27,611,476 (GRCm39)	M83K	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
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
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'- GTTGTCCAAGGTTCCTGAGG -3'
(R):5'- AACTTCAACTGTGGGCAGC -3'

Sequencing Primer
(F):5'- TCCAAGGTTCCTGAGGTACAG -3'
(R):5'- CAGCTGAGGAGTGACAATCTC -3'

Posted On

2022-04-18