Incidental Mutation 'R0522:Prx'
| ID |
48632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prx
|
| Ensembl Gene |
ENSMUSG00000053198 |
| Gene Name |
periaxin |
| Synonyms |
L-Periaxin |
| MMRRC Submission |
038715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0522 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27198730-27219466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27217620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 707
(V707E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000065487
AA Change: V846E
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066110
Gene: ENSMUSG00000053198
AA Change: V846E
| 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: V846E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096241
Gene: ENSMUSG00000053198
AA Change: V846E
| 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: V707E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1217 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
A |
G |
8: 84,456,805 (GRCm39) |
I192T |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,874,648 (GRCm39) |
Y982H |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,676,561 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,598,597 (GRCm39) |
V1610A |
probably benign |
Het |
| Ankrd24 |
T |
C |
10: 81,472,189 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,044,429 (GRCm39) |
N337S |
probably benign |
Het |
| Cdc40 |
T |
C |
10: 40,733,608 (GRCm39) |
Y114C |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,815,957 (GRCm39) |
|
probably null |
Het |
| Cfc1 |
G |
A |
1: 34,576,234 (GRCm39) |
C98Y |
probably damaging |
Het |
| Cyp11b2 |
A |
T |
15: 74,723,533 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
C |
A |
15: 78,499,985 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Degs1l |
A |
C |
1: 180,887,312 (GRCm39) |
D299A |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,157,365 (GRCm39) |
K80R |
probably benign |
Het |
| Dnajb5 |
G |
T |
4: 42,957,083 (GRCm39) |
D257Y |
probably damaging |
Het |
| Dynll1 |
T |
C |
5: 115,438,565 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
T |
A |
13: 42,458,430 (GRCm39) |
V81E |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,039,332 (GRCm39) |
S1981P |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,400 (GRCm39) |
M309L |
probably benign |
Het |
| Gm14221 |
G |
A |
2: 160,416,597 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
A |
10: 88,267,328 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
16: 36,735,567 (GRCm39) |
|
probably null |
Het |
| Gpr176 |
A |
G |
2: 118,114,493 (GRCm39) |
C106R |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,704,560 (GRCm39) |
|
probably null |
Het |
| Hlx |
T |
C |
1: 184,463,837 (GRCm39) |
S168G |
probably damaging |
Het |
| Hnf1a |
G |
T |
5: 115,088,747 (GRCm39) |
|
probably benign |
Het |
| Hp1bp3 |
C |
T |
4: 137,949,472 (GRCm39) |
L19F |
possibly damaging |
Het |
| Hspa14 |
T |
A |
2: 3,512,086 (GRCm39) |
T63S |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,708,179 (GRCm39) |
S207F |
probably damaging |
Het |
| Jak3 |
C |
A |
8: 72,134,918 (GRCm39) |
|
probably benign |
Het |
| Jmjd7 |
G |
A |
2: 119,860,822 (GRCm39) |
A91T |
probably damaging |
Het |
| Lgals9 |
G |
T |
11: 78,856,638 (GRCm39) |
H265Q |
possibly damaging |
Het |
| Lrriq1 |
T |
G |
10: 102,997,638 (GRCm39) |
N1326H |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,672,837 (GRCm39) |
Q486K |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,439,123 (GRCm39) |
T194A |
probably damaging |
Het |
| Nek5 |
T |
A |
8: 22,578,813 (GRCm39) |
|
probably benign |
Het |
| Pcgf2 |
A |
C |
11: 97,582,873 (GRCm39) |
I135M |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 43,213,067 (GRCm39) |
A222S |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,309,859 (GRCm39) |
S575G |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,341,027 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,109,899 (GRCm39) |
|
probably benign |
Het |
| Poteg |
T |
G |
8: 27,939,986 (GRCm39) |
L48V |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,203 (GRCm39) |
C50S |
probably benign |
Het |
| Rrp12 |
C |
T |
19: 41,863,144 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
A |
T |
4: 86,363,340 (GRCm39) |
V381E |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,754,416 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
A |
C |
5: 22,051,343 (GRCm39) |
I57R |
probably damaging |
Het |
| Slc38a3 |
T |
A |
9: 107,532,412 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,926,534 (GRCm39) |
T188A |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,824,010 (GRCm39) |
I260V |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,977,288 (GRCm39) |
S98T |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,786 (GRCm39) |
S548R |
probably damaging |
Het |
| Sult6b1 |
C |
T |
17: 79,212,958 (GRCm39) |
G98S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,649,806 (GRCm39) |
Y77H |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,172,565 (GRCm39) |
D1899V |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Uap1l1 |
T |
C |
2: 25,253,289 (GRCm39) |
E382G |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
| Ugt1a9 |
T |
C |
1: 87,999,114 (GRCm39) |
V188A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,416 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
T |
C |
15: 81,906,793 (GRCm39) |
|
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
| Zfp804b |
T |
A |
5: 6,822,014 (GRCm39) |
T350S |
probably benign |
Het |
| Zfp959 |
G |
T |
17: 56,203,201 (GRCm39) |
R61M |
probably null |
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 |
|
|
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 |
|
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'- AAGTTGCCCAAGATGACCATGCCC -3'
(R):5'- TGGAAACCTTCAGCTTGGTGGCTC -3'
Sequencing Primer
(F):5'- AGATGACCATGCCCAAGTTG -3'
(R):5'- AGTCCGAATTTGGGCAGAGA -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation