Incidental Mutation 'R1443:Ptprn2'
| ID |
158666 |
| 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 |
039498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R1443 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117217235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 918
(K918N)
|
| 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: K918N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: K918N
| 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: ENSMUST00000083604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190132
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190247
AA Change: K918N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: K918N
| 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 |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.7%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,706,056 (GRCm39) |
M99V |
possibly damaging |
Het |
| Adamtsl2 |
T |
A |
2: 26,993,078 (GRCm39) |
C703S |
possibly damaging |
Het |
| Afap1 |
G |
T |
5: 36,126,005 (GRCm39) |
K333N |
probably damaging |
Het |
| Aldh3a2 |
G |
A |
11: 61,155,133 (GRCm39) |
S137L |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,882,379 (GRCm39) |
K107M |
possibly damaging |
Het |
| Aoc1l1 |
A |
T |
6: 48,952,849 (GRCm39) |
Y258F |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,624 (GRCm39) |
S56R |
probably damaging |
Het |
| Bmp8a |
G |
T |
4: 123,210,758 (GRCm39) |
S252R |
possibly damaging |
Het |
| C7 |
T |
C |
15: 5,088,901 (GRCm39) |
I13M |
probably benign |
Het |
| Cblb |
T |
A |
16: 51,959,974 (GRCm39) |
D322E |
possibly damaging |
Het |
| Cfap54 |
G |
A |
10: 92,768,583 (GRCm39) |
T180I |
probably damaging |
Het |
| Clrn2 |
C |
T |
5: 45,617,453 (GRCm39) |
A108V |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,793,796 (GRCm39) |
D510E |
probably damaging |
Het |
| Cyp2c40 |
A |
T |
19: 39,766,415 (GRCm39) |
N393K |
possibly damaging |
Het |
| Dcaf5 |
T |
C |
12: 80,410,843 (GRCm39) |
Y294C |
probably damaging |
Het |
| Dclk3 |
T |
A |
9: 111,298,088 (GRCm39) |
M544K |
probably benign |
Het |
| Ell3 |
A |
T |
2: 121,269,946 (GRCm39) |
F388I |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,329 (GRCm39) |
I163V |
probably damaging |
Het |
| Gnptab |
T |
C |
10: 88,269,943 (GRCm39) |
L882P |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,854,481 (GRCm39) |
D3802V |
possibly damaging |
Het |
| Hs3st5 |
A |
G |
10: 36,709,410 (GRCm39) |
E315G |
probably benign |
Het |
| Idh3b |
A |
T |
2: 130,125,974 (GRCm39) |
|
probably null |
Het |
| Lama4 |
G |
A |
10: 38,949,639 (GRCm39) |
E911K |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,404,800 (GRCm39) |
I436T |
probably damaging |
Het |
| Mgam |
C |
A |
6: 40,736,714 (GRCm39) |
S871* |
probably null |
Het |
| Mtmr7 |
A |
G |
8: 41,013,923 (GRCm39) |
S212P |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,761,336 (GRCm39) |
T480A |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,287,437 (GRCm39) |
N191I |
probably damaging |
Het |
| Nanog |
C |
T |
6: 122,688,734 (GRCm39) |
S105F |
probably damaging |
Het |
| Nanos2 |
A |
G |
7: 18,721,564 (GRCm39) |
Y12C |
probably damaging |
Het |
| Nsg1 |
C |
T |
5: 38,312,987 (GRCm39) |
V71I |
probably benign |
Het |
| Or10g3 |
A |
T |
14: 52,610,408 (GRCm39) |
I34N |
probably damaging |
Het |
| Or13a1 |
T |
C |
6: 116,471,386 (GRCm39) |
L272S |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or51a42 |
A |
T |
7: 103,707,930 (GRCm39) |
I293N |
probably damaging |
Het |
| Or5b105 |
G |
T |
19: 13,080,568 (GRCm39) |
Y33* |
probably null |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,701 (GRCm39) |
Q497R |
probably benign |
Het |
| Pcsk7 |
C |
A |
9: 45,837,284 (GRCm39) |
P536Q |
probably damaging |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Phyhip |
A |
G |
14: 70,704,731 (GRCm39) |
K317E |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,782 (GRCm39) |
G1178R |
probably damaging |
Het |
| Ppp1r9a |
G |
A |
6: 5,057,557 (GRCm39) |
G544D |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,225,775 (GRCm39) |
D480G |
probably benign |
Het |
| Rab42 |
T |
C |
4: 132,029,658 (GRCm39) |
D188G |
probably benign |
Het |
| Rasgrf2 |
C |
A |
13: 92,131,795 (GRCm39) |
D20Y |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
| Sbpl |
T |
C |
17: 24,172,328 (GRCm39) |
K197R |
unknown |
Het |
| Slc44a1 |
T |
A |
4: 53,561,069 (GRCm39) |
V595E |
probably damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,832,463 (GRCm39) |
M410T |
probably damaging |
Het |
| Sntb1 |
A |
T |
15: 55,511,351 (GRCm39) |
L411H |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,073,940 (GRCm39) |
K245E |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,625,543 (GRCm39) |
K1469R |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,864,559 (GRCm39) |
T558I |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,757,288 (GRCm39) |
S1078T |
unknown |
Het |
| Trmu |
T |
A |
15: 85,781,302 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,721,430 (GRCm39) |
|
probably benign |
Het |
| Tyw3 |
T |
C |
3: 154,293,160 (GRCm39) |
T172A |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,217,121 (GRCm39) |
I348T |
possibly damaging |
Het |
| Zfp114 |
A |
G |
7: 23,877,194 (GRCm39) |
D12G |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCGTTGACTGAGTTGCCATTG -3'
(R):5'- ATTTGGAAGTAGAAGACAGCCCGTG -3'
Sequencing Primer
(F):5'- TGACTGAGTTGCCATTGAAAGG -3'
(R):5'- CTATTTAGTCCATGTGCAAAGGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation