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 |
phogrin, 4930425H11Rik, IA-2 beta, PTP-NP, IA-2beta |
| MMRRC Submission |
044620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R6488 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116485720-117276849 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116872038 bp (GRCm38)
|
| 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: 41,625,874 (GRCm38) |
Q334* |
probably null |
Het |
| 4933406M09Rik |
T |
A |
1: 134,390,888 (GRCm38) |
V466D |
probably damaging |
Het |
| Abhd15 |
T |
C |
11: 77,516,022 (GRCm38) |
F275S |
possibly damaging |
Het |
| Adamts7 |
A |
G |
9: 90,171,482 (GRCm38) |
T27A |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,681,808 (GRCm38) |
|
probably null |
Het |
| Ap2a2 |
T |
C |
7: 141,602,307 (GRCm38) |
V183A |
probably benign |
Het |
| Arhgef37 |
G |
A |
18: 61,518,052 (GRCm38) |
A134V |
probably benign |
Het |
| Col3a1 |
C |
A |
1: 45,331,534 (GRCm38) |
|
probably benign |
Het |
| Cxcr5 |
A |
G |
9: 44,513,979 (GRCm38) |
V127A |
probably damaging |
Het |
| Eif4b |
T |
A |
15: 102,092,987 (GRCm38) |
|
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,806,085 (GRCm38) |
V228A |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 76,002,053 (GRCm38) |
E1145G |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 28,093,538 (GRCm38) |
D989G |
probably damaging |
Het |
| Fchsd1 |
T |
C |
18: 37,967,268 (GRCm38) |
|
probably null |
Het |
| Fcnb |
T |
C |
2: 28,078,289 (GRCm38) |
K219E |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,870,575 (GRCm38) |
E355G |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,298,853 (GRCm38) |
H746R |
probably benign |
Het |
| Glod4 |
A |
G |
11: 76,237,785 (GRCm38) |
V74A |
probably damaging |
Het |
| Gm10436 |
T |
C |
12: 88,177,587 (GRCm38) |
H152R |
possibly damaging |
Het |
| Gpc6 |
T |
C |
14: 117,964,713 (GRCm38) |
I445T |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,428,224 (GRCm38) |
D337G |
probably damaging |
Het |
| Hnf1a |
T |
C |
5: 114,955,961 (GRCm38) |
T190A |
probably benign |
Het |
| Iqgap1 |
G |
C |
7: 80,730,326 (GRCm38) |
T1129R |
probably benign |
Het |
| Kcnc3 |
T |
C |
7: 44,595,182 (GRCm38) |
F299L |
possibly damaging |
Het |
| Kif1bp |
C |
A |
10: 62,559,658 (GRCm38) |
|
probably null |
Het |
| Kif26b |
T |
C |
1: 178,529,573 (GRCm38) |
V4A |
unknown |
Het |
| Klra9 |
G |
T |
6: 130,179,032 (GRCm38) |
Y253* |
probably null |
Het |
| Krtap4-1 |
G |
T |
11: 99,628,077 (GRCm38) |
R36S |
unknown |
Het |
| Lman1l |
A |
G |
9: 57,620,643 (GRCm38) |
S10P |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 84,751,353 (GRCm38) |
N693S |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,602,633 (GRCm38) |
F157L |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,487,361 (GRCm38) |
F293L |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,960,907 (GRCm38) |
N2424K |
probably damaging |
Het |
| Mpdz |
G |
T |
4: 81,287,733 (GRCm38) |
A1784E |
probably benign |
Het |
| Mpv17l |
G |
A |
16: 13,946,588 (GRCm38) |
|
probably null |
Het |
| Mtus1 |
G |
A |
8: 41,041,508 (GRCm38) |
S29L |
possibly damaging |
Het |
| Myo15 |
A |
T |
11: 60,478,487 (GRCm38) |
H691L |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,717,843 (GRCm38) |
T2276A |
probably damaging |
Het |
| Npas4 |
A |
G |
19: 4,985,983 (GRCm38) |
S718P |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 58,861,356 (GRCm38) |
N320K |
possibly damaging |
Het |
| Nup214 |
T |
A |
2: 31,991,372 (GRCm38) |
I414N |
possibly damaging |
Het |
| Oas2 |
A |
G |
5: 120,738,363 (GRCm38) |
F15S |
probably damaging |
Het |
| Olfr1474 |
T |
C |
19: 13,471,617 (GRCm38) |
Y216H |
probably damaging |
Het |
| Olfr625-ps1 |
T |
C |
7: 103,683,078 (GRCm38) |
I110T |
probably damaging |
Het |
| Pabpc6 |
A |
G |
17: 9,669,599 (GRCm38) |
Y8H |
probably damaging |
Het |
| Pbx1 |
T |
A |
1: 168,191,395 (GRCm38) |
N294Y |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,467,081 (GRCm38) |
M190T |
probably damaging |
Het |
| Pogk |
T |
C |
1: 166,399,422 (GRCm38) |
I387V |
possibly damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,268,538 (GRCm38) |
L294P |
probably benign |
Het |
| Ptpro |
T |
G |
6: 137,393,675 (GRCm38) |
Y591* |
probably null |
Het |
| Ptprz1 |
T |
A |
6: 23,001,517 (GRCm38) |
L1202* |
probably null |
Het |
| Rab37 |
A |
G |
11: 115,157,963 (GRCm38) |
T73A |
probably benign |
Het |
| Rad51ap2 |
T |
G |
12: 11,458,160 (GRCm38) |
S694R |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,270,727 (GRCm38) |
D148E |
probably damaging |
Het |
| Rraga |
G |
A |
4: 86,576,328 (GRCm38) |
R137H |
probably damaging |
Het |
| Serpinf2 |
A |
G |
11: 75,437,503 (GRCm38) |
V73A |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 131,081,307 (GRCm38) |
N506S |
probably damaging |
Het |
| Slc35e4 |
T |
C |
11: 3,912,602 (GRCm38) |
T196A |
possibly damaging |
Het |
| St6galnac3 |
C |
T |
3: 153,411,757 (GRCm38) |
A110T |
probably damaging |
Het |
| Thsd1 |
T |
C |
8: 22,243,717 (GRCm38) |
V260A |
probably benign |
Het |
| Tpbg |
T |
A |
9: 85,844,485 (GRCm38) |
V169D |
possibly damaging |
Het |
| Trav16n |
A |
G |
14: 53,351,585 (GRCm38) |
E106G |
probably benign |
Het |
| Vmn1r219 |
T |
C |
13: 23,162,965 (GRCm38) |
I108T |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 10,037,717 (GRCm38) |
I686V |
probably damaging |
Het |
| Zdhhc20 |
C |
T |
14: 57,840,832 (GRCm38) |
R329K |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,935,209 (GRCm38) |
|
probably null |
Het |
| Zfp941 |
C |
T |
7: 140,812,750 (GRCm38) |
R232H |
probably benign |
Het |
|
| Other mutations in Ptprn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01695:Ptprn2
|
APN |
12 |
116,841,388 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01788:Ptprn2
|
APN |
12 |
116,900,987 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02172:Ptprn2
|
APN |
12 |
116,873,697 (GRCm38) |
splice site |
probably benign |
|
|
IGL02339:Ptprn2
|
APN |
12 |
116,722,104 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02706:Ptprn2
|
APN |
12 |
116,888,898 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03018:Ptprn2
|
APN |
12 |
117,211,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03267:Ptprn2
|
APN |
12 |
116,876,344 (GRCm38) |
nonsense |
probably null |
|
|
BB001:Ptprn2
|
UTSW |
12 |
116,841,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
BB011:Ptprn2
|
UTSW |
12 |
116,841,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03014:Ptprn2
|
UTSW |
12 |
117,248,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0066:Ptprn2
|
UTSW |
12 |
117,276,602 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0066:Ptprn2
|
UTSW |
12 |
117,276,602 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0115:Ptprn2
|
UTSW |
12 |
117,211,846 (GRCm38) |
splice site |
probably benign |
|
|
R0131:Ptprn2
|
UTSW |
12 |
116,722,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0131:Ptprn2
|
UTSW |
12 |
116,722,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0132:Ptprn2
|
UTSW |
12 |
116,722,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0481:Ptprn2
|
UTSW |
12 |
117,211,846 (GRCm38) |
splice site |
probably benign |
|
|
R0694:Ptprn2
|
UTSW |
12 |
116,824,355 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0698:Ptprn2
|
UTSW |
12 |
116,722,130 (GRCm38) |
nonsense |
probably null |
|
|
R0746:Ptprn2
|
UTSW |
12 |
116,901,017 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1127:Ptprn2
|
UTSW |
12 |
117,212,008 (GRCm38) |
splice site |
probably null |
|
|
R1443:Ptprn2
|
UTSW |
12 |
117,253,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1508:Ptprn2
|
UTSW |
12 |
117,184,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1664:Ptprn2
|
UTSW |
12 |
117,161,709 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1670:Ptprn2
|
UTSW |
12 |
116,722,172 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1749:Ptprn2
|
UTSW |
12 |
116,580,428 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2075:Ptprn2
|
UTSW |
12 |
117,247,717 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3054:Ptprn2
|
UTSW |
12 |
116,722,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3107:Ptprn2
|
UTSW |
12 |
116,876,180 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3109:Ptprn2
|
UTSW |
12 |
116,876,180 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3552:Ptprn2
|
UTSW |
12 |
116,888,877 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4193:Ptprn2
|
UTSW |
12 |
116,901,008 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4523:Ptprn2
|
UTSW |
12 |
116,876,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4706:Ptprn2
|
UTSW |
12 |
116,872,094 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4719:Ptprn2
|
UTSW |
12 |
116,824,396 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4726:Ptprn2
|
UTSW |
12 |
117,247,773 (GRCm38) |
nonsense |
probably null |
|
|
R4872:Ptprn2
|
UTSW |
12 |
117,161,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4891:Ptprn2
|
UTSW |
12 |
117,233,365 (GRCm38) |
splice site |
probably null |
|
|
R4970:Ptprn2
|
UTSW |
12 |
117,276,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5208:Ptprn2
|
UTSW |
12 |
116,858,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5287:Ptprn2
|
UTSW |
12 |
117,211,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5419:Ptprn2
|
UTSW |
12 |
117,184,647 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6035:Ptprn2
|
UTSW |
12 |
117,255,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6035:Ptprn2
|
UTSW |
12 |
117,255,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6180:Ptprn2
|
UTSW |
12 |
116,859,119 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6277:Ptprn2
|
UTSW |
12 |
116,876,180 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6465:Ptprn2
|
UTSW |
12 |
117,269,589 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6555:Ptprn2
|
UTSW |
12 |
117,227,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6908:Ptprn2
|
UTSW |
12 |
116,888,888 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7120:Ptprn2
|
UTSW |
12 |
116,872,056 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7229:Ptprn2
|
UTSW |
12 |
117,227,225 (GRCm38) |
splice site |
probably null |
|
|
R7237:Ptprn2
|
UTSW |
12 |
117,161,727 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7304:Ptprn2
|
UTSW |
12 |
117,248,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7355:Ptprn2
|
UTSW |
12 |
116,858,951 (GRCm38) |
missense |
probably benign |
|
|
R7460:Ptprn2
|
UTSW |
12 |
117,248,681 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7577:Ptprn2
|
UTSW |
12 |
116,485,866 (GRCm38) |
start codon destroyed |
probably null |
|
|
R7658:Ptprn2
|
UTSW |
12 |
116,722,119 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7666:Ptprn2
|
UTSW |
12 |
116,841,320 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7924:Ptprn2
|
UTSW |
12 |
116,841,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8219:Ptprn2
|
UTSW |
12 |
117,184,737 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8716:Ptprn2
|
UTSW |
12 |
117,255,548 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9235:Ptprn2
|
UTSW |
12 |
117,269,651 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9605:Ptprn2
|
UTSW |
12 |
117,161,658 (GRCm38) |
missense |
probably benign |
0.13 |
|
X0066:Ptprn2
|
UTSW |
12 |
117,184,740 (GRCm38) |
missense |
probably benign |
0.16 |
|
X0066:Ptprn2
|
UTSW |
12 |
117,161,760 (GRCm38) |
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 |
Incidental Mutation