Incidental Mutation 'IGL02339:Ptprn2'
ID |
289000 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
IGL02339
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 116685724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 61
(Q61P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070733
AA Change: Q61P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: Q61P
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 |
noncoding transcript
Transcript: ENSMUST00000185505
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189009
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190247
AA Change: Q61P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: Q61P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191106
|
Coding Region Coverage |
|
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 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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
C |
A |
6: 23,093,965 (GRCm39) |
V119F |
probably damaging |
Het |
Abcg5 |
T |
C |
17: 84,981,032 (GRCm39) |
I186V |
possibly damaging |
Het |
B4gat1 |
G |
A |
19: 5,089,446 (GRCm39) |
E148K |
probably benign |
Het |
Ccr6 |
A |
T |
17: 8,475,085 (GRCm39) |
T97S |
probably benign |
Het |
Cd209f |
A |
C |
8: 4,154,483 (GRCm39) |
|
probably null |
Het |
Chst1 |
T |
A |
2: 92,443,922 (GRCm39) |
D131E |
possibly damaging |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dnaaf9 |
A |
G |
2: 130,581,385 (GRCm39) |
S546P |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,078,881 (GRCm39) |
Y2361H |
probably benign |
Het |
Dpp6 |
C |
T |
5: 27,857,228 (GRCm39) |
T333I |
probably damaging |
Het |
Glt8d1 |
C |
A |
14: 30,730,767 (GRCm39) |
T91K |
probably damaging |
Het |
Gm4952 |
G |
A |
19: 12,604,275 (GRCm39) |
R229Q |
probably damaging |
Het |
Gm5117 |
T |
C |
8: 32,228,254 (GRCm39) |
|
noncoding transcript |
Het |
Gp5 |
T |
C |
16: 30,128,008 (GRCm39) |
E222G |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,771,470 (GRCm39) |
D1077E |
probably benign |
Het |
Hfe |
T |
C |
13: 23,888,373 (GRCm39) |
E171G |
probably damaging |
Het |
Hsp90b1 |
A |
G |
10: 86,537,678 (GRCm39) |
V209A |
probably damaging |
Het |
Ktn1 |
A |
T |
14: 47,920,835 (GRCm39) |
|
probably benign |
Het |
Med13 |
T |
C |
11: 86,179,765 (GRCm39) |
I1394M |
probably benign |
Het |
Meioc |
T |
G |
11: 102,559,274 (GRCm39) |
S65R |
probably benign |
Het |
Myof |
T |
C |
19: 37,960,661 (GRCm39) |
Y460C |
possibly damaging |
Het |
Or4f53 |
A |
T |
2: 111,087,588 (GRCm39) |
T43S |
probably benign |
Het |
Pms1 |
A |
G |
1: 53,314,324 (GRCm39) |
Y74H |
possibly damaging |
Het |
Rab29 |
A |
G |
1: 131,799,880 (GRCm39) |
T152A |
probably benign |
Het |
Rest |
A |
G |
5: 77,423,135 (GRCm39) |
H313R |
probably damaging |
Het |
Slc9a5 |
T |
C |
8: 106,085,091 (GRCm39) |
Y531H |
probably damaging |
Het |
St3gal3 |
T |
C |
4: 117,815,759 (GRCm39) |
T148A |
probably damaging |
Het |
Stxbp5 |
C |
T |
10: 9,692,041 (GRCm39) |
V368I |
possibly damaging |
Het |
Taf1c |
T |
C |
8: 120,331,019 (GRCm39) |
D33G |
probably damaging |
Het |
Trim38 |
G |
A |
13: 23,972,213 (GRCm39) |
R178Q |
probably damaging |
Het |
Uvssa |
A |
T |
5: 33,572,193 (GRCm39) |
K704N |
probably damaging |
Het |
Vmn1r69 |
G |
A |
7: 10,314,645 (GRCm39) |
Q29* |
probably null |
Het |
Ypel2 |
T |
C |
11: 86,831,429 (GRCm39) |
D119G |
possibly damaging |
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 |
|
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 |
R7666:Ptprn2
|
UTSW |
12 |
116,804,940 (GRCm39) |
missense |
probably benign |
0.10 |
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 |
|
Posted On |
2015-04-16 |