Incidental Mutation 'R7666:Ptprn2'
ID |
591944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprn2
|
Ensembl Gene |
ENSMUSG00000056553 |
Gene Name |
protein tyrosine phosphatase receptor type N polypeptide 2 |
Synonyms |
IA-2 beta, PTP-NP, 4930425H11Rik, IA-2beta, phogrin |
MMRRC Submission |
045705-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R7666 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 116804940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 152
(R152S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070733
AA Change: R152S
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: R152S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
RESP18
|
58 |
157 |
1.9e-40 |
SMART |
low complexity region
|
393 |
426 |
N/A |
INTRINSIC |
Pfam:Receptor_IA-2
|
495 |
583 |
1.5e-35 |
PFAM |
low complexity region
|
687 |
707 |
N/A |
INTRINSIC |
PTPc
|
730 |
993 |
4.42e-119 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190247
AA Change: R152S
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: R152S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
RESP18
|
58 |
157 |
1.9e-40 |
SMART |
low complexity region
|
393 |
426 |
N/A |
INTRINSIC |
Pfam:Receptor_IA-2
|
494 |
584 |
2.5e-43 |
PFAM |
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
low complexity region
|
687 |
707 |
N/A |
INTRINSIC |
PTPc
|
730 |
932 |
8.81e-64 |
SMART |
|
Meta Mutation Damage Score |
0.1415 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] PHENOTYPE: Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh4a1 |
G |
A |
4: 139,361,268 (GRCm39) |
V72M |
probably damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atl3 |
T |
C |
19: 7,487,405 (GRCm39) |
S107P |
probably benign |
Het |
Brpf3 |
T |
C |
17: 29,029,546 (GRCm39) |
L502P |
possibly damaging |
Het |
C6 |
T |
A |
15: 4,818,987 (GRCm39) |
S440T |
probably damaging |
Het |
Car3 |
A |
G |
3: 14,935,124 (GRCm39) |
H177R |
probably benign |
Het |
Ccdc148 |
A |
G |
2: 58,824,512 (GRCm39) |
W310R |
probably damaging |
Het |
Cchcr1 |
C |
T |
17: 35,837,383 (GRCm39) |
T401I |
probably benign |
Het |
Cdk13 |
G |
A |
13: 17,947,161 (GRCm39) |
|
probably benign |
Het |
Celsr2 |
A |
G |
3: 108,305,904 (GRCm39) |
S2067P |
probably benign |
Het |
Chrng |
A |
T |
1: 87,137,175 (GRCm39) |
T278S |
probably benign |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Clec14a |
T |
A |
12: 58,314,543 (GRCm39) |
T360S |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,836,533 (GRCm39) |
Y877H |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,379,700 (GRCm39) |
L518* |
probably null |
Het |
Cyp2c38 |
A |
T |
19: 39,426,686 (GRCm39) |
V205D |
possibly damaging |
Het |
Dlg5 |
G |
A |
14: 24,207,867 (GRCm39) |
P1113L |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,586,456 (GRCm39) |
V1465E |
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,148,391 (GRCm39) |
C2619Y |
probably damaging |
Het |
Fbxl4 |
A |
G |
4: 22,376,869 (GRCm39) |
T102A |
probably benign |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
Gimap8 |
A |
C |
6: 48,636,089 (GRCm39) |
N618T |
probably damaging |
Het |
Gk5 |
T |
A |
9: 96,035,160 (GRCm39) |
F286L |
probably damaging |
Het |
Gucy2c |
G |
A |
6: 136,674,966 (GRCm39) |
S1039L |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,270,245 (GRCm39) |
P1161S |
probably damaging |
Het |
Hnrnpa2b1 |
A |
T |
6: 51,443,917 (GRCm39) |
V78E |
possibly damaging |
Het |
Ltbp3 |
C |
T |
19: 5,797,034 (GRCm39) |
S387L |
possibly damaging |
Het |
Mrpl48 |
A |
G |
7: 100,214,408 (GRCm39) |
V64A |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,469,723 (GRCm39) |
Y7284C |
probably damaging |
Het |
Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
Myh4 |
A |
T |
11: 67,147,107 (GRCm39) |
D1584V |
probably damaging |
Het |
Myl7 |
A |
G |
11: 5,847,140 (GRCm39) |
F138L |
possibly damaging |
Het |
Nek5 |
T |
C |
8: 22,580,533 (GRCm39) |
K395R |
probably benign |
Het |
Or10ak7 |
T |
A |
4: 118,791,461 (GRCm39) |
T195S |
probably damaging |
Het |
Or2t6 |
A |
T |
14: 14,176,075 (GRCm38) |
D2E |
probably benign |
Het |
Or5b12 |
A |
G |
19: 12,897,526 (GRCm39) |
L49P |
probably damaging |
Het |
Phf7 |
C |
T |
14: 30,962,311 (GRCm39) |
E165K |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,591,591 (GRCm39) |
Y1213C |
probably benign |
Het |
Ppp1r9a |
A |
T |
6: 5,143,238 (GRCm39) |
K1005N |
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 124,440,873 (GRCm38) |
D8E |
probably damaging |
Het |
Pramel24 |
A |
T |
4: 143,455,085 (GRCm39) |
Y461F |
probably benign |
Het |
Smc5 |
A |
T |
19: 23,206,381 (GRCm39) |
D724E |
probably benign |
Het |
Snx30 |
T |
C |
4: 59,885,047 (GRCm39) |
V229A |
probably benign |
Het |
Spata31d1c |
A |
C |
13: 65,183,814 (GRCm39) |
N452T |
probably benign |
Het |
Tacc2 |
C |
T |
7: 130,318,544 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
C |
T |
6: 12,379,437 (GRCm39) |
D996N |
|
Het |
Tubb2b |
A |
G |
13: 34,312,118 (GRCm39) |
L225P |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,140,791 (GRCm39) |
T1237A |
possibly damaging |
Het |
Unc50 |
G |
A |
1: 37,470,496 (GRCm39) |
R40Q |
possibly damaging |
Het |
Usp31 |
T |
C |
7: 121,248,404 (GRCm39) |
E1013G |
possibly damaging |
Het |
Vwa5a |
A |
G |
9: 38,645,259 (GRCm39) |
D448G |
probably benign |
Het |
Wnt5a |
T |
C |
14: 28,240,329 (GRCm39) |
S160P |
possibly damaging |
Het |
Zfp618 |
T |
A |
4: 63,050,954 (GRCm39) |
Y578* |
probably null |
Het |
Zfp804a |
C |
T |
2: 82,089,404 (GRCm39) |
Q1078* |
probably null |
Het |
Zfp808 |
C |
T |
13: 62,319,225 (GRCm39) |
T131M |
probably benign |
Het |
|
Other mutations in Ptprn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01695:Ptprn2
|
APN |
12 |
116,805,008 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01788:Ptprn2
|
APN |
12 |
116,864,607 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02172:Ptprn2
|
APN |
12 |
116,837,317 (GRCm39) |
splice site |
probably benign |
|
IGL02339:Ptprn2
|
APN |
12 |
116,685,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02706:Ptprn2
|
APN |
12 |
116,852,518 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03018:Ptprn2
|
APN |
12 |
117,175,563 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03267:Ptprn2
|
APN |
12 |
116,839,964 (GRCm39) |
nonsense |
probably null |
|
BB001:Ptprn2
|
UTSW |
12 |
116,804,884 (GRCm39) |
missense |
probably benign |
0.00 |
BB011:Ptprn2
|
UTSW |
12 |
116,804,884 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03014:Ptprn2
|
UTSW |
12 |
117,212,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Ptprn2
|
UTSW |
12 |
117,240,222 (GRCm39) |
missense |
probably benign |
0.07 |
R0066:Ptprn2
|
UTSW |
12 |
117,240,222 (GRCm39) |
missense |
probably benign |
0.07 |
R0115:Ptprn2
|
UTSW |
12 |
117,175,466 (GRCm39) |
splice site |
probably benign |
|
R0131:Ptprn2
|
UTSW |
12 |
116,685,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Ptprn2
|
UTSW |
12 |
116,685,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R0132:Ptprn2
|
UTSW |
12 |
116,685,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:Ptprn2
|
UTSW |
12 |
117,175,466 (GRCm39) |
splice site |
probably benign |
|
R0694:Ptprn2
|
UTSW |
12 |
116,787,975 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0698:Ptprn2
|
UTSW |
12 |
116,685,750 (GRCm39) |
nonsense |
probably null |
|
R0746:Ptprn2
|
UTSW |
12 |
116,864,637 (GRCm39) |
missense |
probably benign |
0.00 |
R1127:Ptprn2
|
UTSW |
12 |
117,175,628 (GRCm39) |
splice site |
probably null |
|
R1443:Ptprn2
|
UTSW |
12 |
117,217,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R1508:Ptprn2
|
UTSW |
12 |
117,148,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1664:Ptprn2
|
UTSW |
12 |
117,125,329 (GRCm39) |
missense |
probably damaging |
0.99 |
R1670:Ptprn2
|
UTSW |
12 |
116,685,792 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1749:Ptprn2
|
UTSW |
12 |
116,544,048 (GRCm39) |
missense |
probably benign |
0.00 |
R2075:Ptprn2
|
UTSW |
12 |
117,211,337 (GRCm39) |
missense |
probably benign |
0.01 |
R3054:Ptprn2
|
UTSW |
12 |
116,685,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R3107:Ptprn2
|
UTSW |
12 |
116,839,800 (GRCm39) |
missense |
probably benign |
0.04 |
R3109:Ptprn2
|
UTSW |
12 |
116,839,800 (GRCm39) |
missense |
probably benign |
0.04 |
R3552:Ptprn2
|
UTSW |
12 |
116,852,497 (GRCm39) |
missense |
probably benign |
0.00 |
R4193:Ptprn2
|
UTSW |
12 |
116,864,628 (GRCm39) |
missense |
probably benign |
0.01 |
R4523:Ptprn2
|
UTSW |
12 |
116,839,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R4706:Ptprn2
|
UTSW |
12 |
116,835,714 (GRCm39) |
missense |
probably benign |
0.02 |
R4719:Ptprn2
|
UTSW |
12 |
116,788,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4726:Ptprn2
|
UTSW |
12 |
117,211,393 (GRCm39) |
nonsense |
probably null |
|
R4872:Ptprn2
|
UTSW |
12 |
117,125,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R4891:Ptprn2
|
UTSW |
12 |
117,196,985 (GRCm39) |
splice site |
probably null |
|
R4970:Ptprn2
|
UTSW |
12 |
117,240,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Ptprn2
|
UTSW |
12 |
116,822,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Ptprn2
|
UTSW |
12 |
117,175,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R5419:Ptprn2
|
UTSW |
12 |
117,148,267 (GRCm39) |
missense |
probably damaging |
0.99 |
R6035:Ptprn2
|
UTSW |
12 |
117,219,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Ptprn2
|
UTSW |
12 |
117,219,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Ptprn2
|
UTSW |
12 |
116,822,739 (GRCm39) |
missense |
probably benign |
0.05 |
R6277:Ptprn2
|
UTSW |
12 |
116,839,800 (GRCm39) |
missense |
probably benign |
0.04 |
R6465:Ptprn2
|
UTSW |
12 |
117,233,209 (GRCm39) |
missense |
probably damaging |
0.96 |
R6488:Ptprn2
|
UTSW |
12 |
116,835,658 (GRCm39) |
missense |
probably benign |
0.13 |
R6555:Ptprn2
|
UTSW |
12 |
117,190,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R6908:Ptprn2
|
UTSW |
12 |
116,852,508 (GRCm39) |
missense |
probably benign |
0.06 |
R7120:Ptprn2
|
UTSW |
12 |
116,835,676 (GRCm39) |
missense |
probably benign |
0.01 |
R7229:Ptprn2
|
UTSW |
12 |
117,190,845 (GRCm39) |
splice site |
probably null |
|
R7237:Ptprn2
|
UTSW |
12 |
117,125,347 (GRCm39) |
missense |
probably benign |
0.03 |
R7304:Ptprn2
|
UTSW |
12 |
117,212,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R7355:Ptprn2
|
UTSW |
12 |
116,822,571 (GRCm39) |
missense |
probably benign |
|
R7460:Ptprn2
|
UTSW |
12 |
117,212,301 (GRCm39) |
missense |
probably benign |
0.05 |
R7577:Ptprn2
|
UTSW |
12 |
116,449,486 (GRCm39) |
start codon destroyed |
probably null |
|
R7658:Ptprn2
|
UTSW |
12 |
116,685,739 (GRCm39) |
missense |
probably benign |
0.01 |
R7924:Ptprn2
|
UTSW |
12 |
116,804,884 (GRCm39) |
missense |
probably benign |
0.00 |
R8219:Ptprn2
|
UTSW |
12 |
117,148,357 (GRCm39) |
missense |
probably benign |
0.30 |
R8716:Ptprn2
|
UTSW |
12 |
117,219,168 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9235:Ptprn2
|
UTSW |
12 |
117,233,271 (GRCm39) |
critical splice donor site |
probably null |
|
R9605:Ptprn2
|
UTSW |
12 |
117,125,278 (GRCm39) |
missense |
probably benign |
0.13 |
X0066:Ptprn2
|
UTSW |
12 |
117,148,360 (GRCm39) |
missense |
probably benign |
0.16 |
X0066:Ptprn2
|
UTSW |
12 |
117,125,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTCCTTAAGAAACAACACTGG -3'
(R):5'- GCTCACTCTGCAAAGATGTCTG -3'
Sequencing Primer
(F):5'- ATAGGTGTTGACCAGCAGCTCAC -3'
(R):5'- TGCAAAGATGTCTGTACCCTAC -3'
|
Posted On |
2019-11-12 |