Incidental Mutation 'IGL03267:Ptprn2'
ID |
415125 |
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 # |
IGL03267
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 116839964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 496
(Q496*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably null
Transcript: ENSMUST00000070733
AA Change: Q496*
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: Q496*
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: ENSMUST00000189009
|
Predicted Effect |
probably null
Transcript: ENSMUST00000190247
AA Change: Q496*
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: Q496*
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
C |
T |
5: 121,775,412 (GRCm39) |
R430Q |
probably benign |
Het |
Arfgef3 |
T |
A |
10: 18,467,630 (GRCm39) |
I1857F |
probably damaging |
Het |
Baat |
T |
A |
4: 49,490,050 (GRCm39) |
M345L |
probably benign |
Het |
Babam1 |
T |
G |
8: 71,855,708 (GRCm39) |
|
probably null |
Het |
Bbs7 |
A |
G |
3: 36,627,654 (GRCm39) |
F711S |
probably damaging |
Het |
Btrc |
A |
G |
19: 45,507,262 (GRCm39) |
E458G |
probably damaging |
Het |
Car6 |
T |
C |
4: 150,280,503 (GRCm39) |
|
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,713,724 (GRCm39) |
|
probably benign |
Het |
Csn2 |
A |
G |
5: 87,845,930 (GRCm39) |
V3A |
possibly damaging |
Het |
Ddc |
T |
C |
11: 11,826,303 (GRCm39) |
Y86C |
probably damaging |
Het |
Dennd1b |
A |
T |
1: 138,990,599 (GRCm39) |
R188* |
probably null |
Het |
Dnah1 |
C |
A |
14: 31,008,545 (GRCm39) |
A2046S |
probably benign |
Het |
Duxf4 |
T |
C |
10: 58,071,609 (GRCm39) |
T202A |
probably damaging |
Het |
Eif2b4 |
A |
T |
5: 31,350,003 (GRCm39) |
S20T |
possibly damaging |
Het |
Etl4 |
T |
A |
2: 20,789,993 (GRCm39) |
C916* |
probably null |
Het |
Fam78a |
T |
C |
2: 31,959,679 (GRCm39) |
I144V |
probably benign |
Het |
Fcho1 |
A |
G |
8: 72,164,943 (GRCm39) |
|
probably benign |
Het |
Il9r |
T |
A |
11: 32,141,778 (GRCm39) |
H320L |
possibly damaging |
Het |
Kntc1 |
C |
T |
5: 123,896,543 (GRCm39) |
T135M |
probably damaging |
Het |
Lca5l |
T |
A |
16: 95,960,983 (GRCm39) |
Q498L |
probably benign |
Het |
Map4k3 |
T |
C |
17: 80,971,457 (GRCm39) |
H70R |
probably damaging |
Het |
Mrps26 |
A |
G |
2: 130,406,856 (GRCm39) |
|
probably null |
Het |
Or1j20 |
G |
T |
2: 36,760,513 (GRCm39) |
A312S |
probably benign |
Het |
Or4k5 |
A |
G |
14: 50,386,304 (GRCm39) |
V9A |
probably damaging |
Het |
Or8j3b |
A |
T |
2: 86,204,978 (GRCm39) |
Y259* |
probably null |
Het |
Pik3cg |
C |
A |
12: 32,255,307 (GRCm39) |
G227C |
possibly damaging |
Het |
Rif1 |
T |
G |
2: 51,967,000 (GRCm39) |
N96K |
possibly damaging |
Het |
Rreb1 |
A |
C |
13: 38,116,169 (GRCm39) |
D1176A |
probably benign |
Het |
Slc22a30 |
A |
G |
19: 8,315,322 (GRCm39) |
I436T |
probably benign |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Spata31e5 |
G |
A |
1: 28,816,202 (GRCm39) |
T610I |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,864,686 (GRCm39) |
C1950R |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,013,813 (GRCm39) |
|
probably null |
Het |
Ttf2 |
G |
A |
3: 100,852,120 (GRCm39) |
R1009* |
probably null |
Het |
Wfdc16 |
A |
G |
2: 164,480,462 (GRCm39) |
V11A |
possibly damaging |
Het |
Zfp367 |
A |
G |
13: 64,292,097 (GRCm39) |
|
probably benign |
Het |
Zfp420 |
G |
A |
7: 29,574,908 (GRCm39) |
R376H |
probably 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 |
|
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 |
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 |
2016-08-02 |