Incidental Mutation 'R6488:Ptprn2'
ID |
522556 |
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 |
044620-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R6488 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116835658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 331
(I331K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070733
AA Change: I331K
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: I331K
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 benign
Transcript: ENSMUST00000190247
AA Change: I331K
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: I331K
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 |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
Validation Efficiency |
96% (65/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
Abhd15 |
T |
C |
11: 77,406,848 (GRCm39) |
F275S |
possibly damaging |
Het |
Adamts7 |
A |
G |
9: 90,053,535 (GRCm39) |
T27A |
probably benign |
Het |
Ankar |
A |
G |
1: 72,720,967 (GRCm39) |
|
probably null |
Het |
Ap2a2 |
T |
C |
7: 141,182,220 (GRCm39) |
V183A |
probably benign |
Het |
Arhgef37 |
G |
A |
18: 61,651,123 (GRCm39) |
A134V |
probably benign |
Het |
Col3a1 |
C |
A |
1: 45,370,694 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
A |
G |
9: 57,527,926 (GRCm39) |
S10P |
possibly damaging |
Het |
Cxcr5 |
A |
G |
9: 44,425,276 (GRCm39) |
V127A |
probably damaging |
Het |
Eif4b |
T |
A |
15: 102,001,422 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,873,902 (GRCm39) |
E1145G |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,792,963 (GRCm39) |
D989G |
probably damaging |
Het |
Fchsd1 |
T |
C |
18: 38,100,321 (GRCm39) |
|
probably null |
Het |
Fcnb |
T |
C |
2: 27,968,301 (GRCm39) |
K219E |
probably damaging |
Het |
Fndc7 |
T |
C |
3: 108,777,891 (GRCm39) |
E355G |
probably damaging |
Het |
Glis3 |
T |
C |
19: 28,276,253 (GRCm39) |
H746R |
probably benign |
Het |
Glod4 |
A |
G |
11: 76,128,611 (GRCm39) |
V74A |
probably damaging |
Het |
Gpc6 |
T |
C |
14: 118,202,125 (GRCm39) |
I445T |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,355,946 (GRCm39) |
D337G |
probably damaging |
Het |
Hnf1a |
T |
C |
5: 115,094,020 (GRCm39) |
T190A |
probably benign |
Het |
Iqgap1 |
G |
C |
7: 80,380,074 (GRCm39) |
T1129R |
probably benign |
Het |
Kcnc3 |
T |
C |
7: 44,244,606 (GRCm39) |
F299L |
possibly damaging |
Het |
Kif26b |
T |
C |
1: 178,357,138 (GRCm39) |
V4A |
unknown |
Het |
Kifbp |
C |
A |
10: 62,395,437 (GRCm39) |
|
probably null |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Krtap4-1 |
G |
T |
11: 99,518,903 (GRCm39) |
R36S |
unknown |
Het |
Lrpprc |
T |
C |
17: 85,058,781 (GRCm39) |
N693S |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,791,388 (GRCm39) |
N2424K |
probably damaging |
Het |
Mgat4f |
T |
A |
1: 134,318,626 (GRCm39) |
V466D |
probably damaging |
Het |
Mpdz |
G |
T |
4: 81,205,970 (GRCm39) |
A1784E |
probably benign |
Het |
Mpv17l |
G |
A |
16: 13,764,452 (GRCm39) |
|
probably null |
Het |
Mtus1 |
G |
A |
8: 41,494,545 (GRCm39) |
S29L |
possibly damaging |
Het |
Myo15a |
A |
T |
11: 60,369,313 (GRCm39) |
H691L |
possibly damaging |
Het |
Nbea |
T |
C |
3: 55,625,264 (GRCm39) |
T2276A |
probably damaging |
Het |
Npas4 |
A |
G |
19: 5,036,011 (GRCm39) |
S718P |
probably damaging |
Het |
Ntrk2 |
T |
A |
13: 59,009,170 (GRCm39) |
N320K |
possibly damaging |
Het |
Nup214 |
T |
A |
2: 31,881,384 (GRCm39) |
I414N |
possibly damaging |
Het |
Oas2 |
A |
G |
5: 120,876,428 (GRCm39) |
F15S |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,332,285 (GRCm39) |
I110T |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,448,981 (GRCm39) |
Y216H |
probably damaging |
Het |
Pabpc6 |
A |
G |
17: 9,888,528 (GRCm39) |
Y8H |
probably damaging |
Het |
Pbx1 |
T |
A |
1: 168,018,964 (GRCm39) |
N294Y |
probably damaging |
Het |
Pcyt1a |
T |
C |
16: 32,285,899 (GRCm39) |
M190T |
probably damaging |
Het |
Pogk |
T |
C |
1: 166,226,991 (GRCm39) |
I387V |
possibly damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,152,741 (GRCm39) |
L294P |
probably benign |
Het |
Pramel51 |
T |
C |
12: 88,144,357 (GRCm39) |
H152R |
possibly damaging |
Het |
Ptpro |
T |
G |
6: 137,370,673 (GRCm39) |
Y591* |
probably null |
Het |
Ptprz1 |
T |
A |
6: 23,001,516 (GRCm39) |
L1202* |
probably null |
Het |
Rab37 |
A |
G |
11: 115,048,789 (GRCm39) |
T73A |
probably benign |
Het |
Rad51ap2 |
T |
G |
12: 11,508,161 (GRCm39) |
S694R |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,340,951 (GRCm39) |
D148E |
probably damaging |
Het |
Rraga |
G |
A |
4: 86,494,565 (GRCm39) |
R137H |
probably damaging |
Het |
Serpinf2 |
A |
G |
11: 75,328,329 (GRCm39) |
V73A |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,923,227 (GRCm39) |
N506S |
probably damaging |
Het |
Slc35e4 |
T |
C |
11: 3,862,602 (GRCm39) |
T196A |
possibly damaging |
Het |
St6galnac3 |
C |
T |
3: 153,117,394 (GRCm39) |
A110T |
probably damaging |
Het |
Thsd1 |
T |
C |
8: 22,733,733 (GRCm39) |
V260A |
probably benign |
Het |
Tpbg |
T |
A |
9: 85,726,538 (GRCm39) |
V169D |
possibly damaging |
Het |
Trav16n |
A |
G |
14: 53,589,042 (GRCm39) |
E106G |
probably benign |
Het |
Vmn1r219 |
T |
C |
13: 23,347,135 (GRCm39) |
I108T |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,771,644 (GRCm39) |
I686V |
probably damaging |
Het |
Zdhhc20 |
C |
T |
14: 58,078,289 (GRCm39) |
R329K |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,777,129 (GRCm39) |
|
probably null |
Het |
Zfp941 |
C |
T |
7: 140,392,663 (GRCm39) |
R232H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCTCTATGTCCAGCTAAAC -3'
(R):5'- TCTGCATGGCATGGTCTCAC -3'
Sequencing Primer
(F):5'- TGTCCAGCTAAACATAGAAAAGTTC -3'
(R):5'- ATGGCATGGTCTCACTCCTTC -3'
|
Posted On |
2018-06-06 |