Incidental Mutation 'R7355:Ptprn2'
ID |
570900 |
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 |
045441-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R7355 (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 C
at 116822571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 217
(F217L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070733
AA Change: F217L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: F217L
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 |
probably benign
Transcript: ENSMUST00000190247
AA Change: F217L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: F217L
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (72/72) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
A |
17: 24,486,621 (GRCm39) |
R1469W |
probably benign |
Het |
Acad10 |
G |
T |
5: 121,768,780 (GRCm39) |
Y728* |
probably null |
Het |
Adamts17 |
T |
C |
7: 66,725,052 (GRCm39) |
V160A |
|
Het |
Astn1 |
A |
T |
1: 158,491,846 (GRCm39) |
|
probably null |
Het |
Atp8a2 |
T |
C |
14: 60,282,453 (GRCm39) |
K104E |
possibly damaging |
Het |
Axl |
T |
C |
7: 25,473,531 (GRCm39) |
Y365C |
probably benign |
Het |
Btbd16 |
A |
T |
7: 130,423,173 (GRCm39) |
Y409F |
probably benign |
Het |
Caln1 |
A |
T |
5: 130,443,732 (GRCm39) |
T22S |
probably benign |
Het |
Camk1 |
C |
A |
6: 113,315,307 (GRCm39) |
G164C |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,861,655 (GRCm39) |
T512A |
possibly damaging |
Het |
Ceacam5 |
A |
G |
7: 17,481,312 (GRCm39) |
D353G |
probably damaging |
Het |
Cep162 |
C |
A |
9: 87,136,008 (GRCm39) |
E12* |
probably null |
Het |
Cfh |
A |
T |
1: 140,064,553 (GRCm39) |
V365E |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,752,196 (GRCm39) |
H231R |
unknown |
Het |
Cntnap3 |
T |
C |
13: 64,919,776 (GRCm39) |
T694A |
probably benign |
Het |
Colq |
C |
A |
14: 31,267,066 (GRCm39) |
G158V |
probably damaging |
Het |
Ctif |
G |
A |
18: 75,743,756 (GRCm39) |
H139Y |
probably damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,042,144 (GRCm39) |
F934Y |
probably damaging |
Het |
Dclre1a |
T |
A |
19: 56,535,567 (GRCm39) |
T6S |
possibly damaging |
Het |
Dnmbp |
T |
C |
19: 43,890,180 (GRCm39) |
D529G |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,147,377 (GRCm39) |
Q3955L |
probably benign |
Het |
Gjd4 |
A |
G |
18: 9,280,860 (GRCm39) |
S73P |
probably damaging |
Het |
Gm19410 |
C |
A |
8: 36,274,226 (GRCm39) |
Q1460K |
probably benign |
Het |
Golga5 |
A |
T |
12: 102,438,494 (GRCm39) |
I70F |
possibly damaging |
Het |
Gon4l |
T |
A |
3: 88,770,827 (GRCm39) |
I502N |
probably damaging |
Het |
Gtf2ird2 |
C |
G |
5: 134,245,491 (GRCm39) |
A583G |
probably benign |
Het |
Hectd1 |
A |
C |
12: 51,838,081 (GRCm39) |
W694G |
possibly damaging |
Het |
Ifit1bl2 |
C |
T |
19: 34,597,061 (GRCm39) |
G185D |
probably damaging |
Het |
Igfbp6 |
G |
A |
15: 102,056,375 (GRCm39) |
A145T |
probably benign |
Het |
Junb |
C |
T |
8: 85,705,013 (GRCm39) |
A16T |
probably benign |
Het |
Kcnh4 |
C |
T |
11: 100,643,269 (GRCm39) |
V333I |
possibly damaging |
Het |
Ly6c1 |
T |
C |
15: 74,919,256 (GRCm39) |
T45A |
possibly damaging |
Het |
Mon2 |
T |
A |
10: 122,845,421 (GRCm39) |
Q1428L |
probably benign |
Het |
Nfatc2ip |
C |
T |
7: 125,986,783 (GRCm39) |
|
probably null |
Het |
Olfml3 |
C |
A |
3: 103,643,395 (GRCm39) |
G329W |
probably damaging |
Het |
Or10ag56 |
T |
C |
2: 87,139,754 (GRCm39) |
V207A |
probably benign |
Het |
Or10al2 |
A |
G |
17: 37,983,301 (GRCm39) |
Y129C |
probably benign |
Het |
Or6d15 |
T |
A |
6: 116,559,916 (GRCm39) |
|
probably benign |
Het |
Or9g3 |
C |
T |
2: 85,584,023 (GRCm39) |
P106L |
probably benign |
Het |
Pcsk7 |
A |
G |
9: 45,820,672 (GRCm39) |
M35V |
probably benign |
Het |
Phf14 |
A |
G |
6: 12,081,006 (GRCm39) |
N921S |
probably benign |
Het |
Pla2g4e |
G |
A |
2: 120,011,982 (GRCm39) |
S396F |
possibly damaging |
Het |
Ppp4r4 |
A |
T |
12: 103,570,841 (GRCm39) |
K766* |
probably null |
Het |
Pprc1 |
T |
C |
19: 46,053,785 (GRCm39) |
V1105A |
unknown |
Het |
Prdm9 |
T |
G |
17: 15,765,497 (GRCm39) |
N428H |
probably benign |
Het |
Prkcg |
C |
T |
7: 3,372,025 (GRCm39) |
T497I |
possibly damaging |
Het |
Prkcz |
A |
G |
4: 155,441,953 (GRCm39) |
W60R |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,763,906 (GRCm39) |
Y283* |
probably null |
Het |
Rest |
A |
G |
5: 77,415,875 (GRCm39) |
M30V |
probably benign |
Het |
Rfxank |
C |
T |
8: 70,587,957 (GRCm39) |
R150H |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,042,175 (GRCm39) |
Q250L |
probably damaging |
Het |
Sgk2 |
A |
G |
2: 162,854,987 (GRCm39) |
D366G |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,076,155 (GRCm39) |
D596G |
probably benign |
Het |
Siglec1 |
A |
T |
2: 130,922,371 (GRCm39) |
L568Q |
probably benign |
Het |
Slain1 |
AT |
ATT |
14: 103,940,012 (GRCm39) |
|
probably null |
Het |
Slc10a5 |
A |
T |
3: 10,399,375 (GRCm39) |
Y428* |
probably null |
Het |
Slc25a54 |
T |
C |
3: 109,010,085 (GRCm39) |
W195R |
probably damaging |
Het |
Slf1 |
A |
G |
13: 77,239,422 (GRCm39) |
I414T |
probably damaging |
Het |
Snx4 |
C |
T |
16: 33,087,236 (GRCm39) |
P127L |
probably damaging |
Het |
Spdl1 |
A |
T |
11: 34,714,191 (GRCm39) |
L166H |
not run |
Het |
Tapt1 |
C |
T |
5: 44,334,459 (GRCm39) |
V511I |
probably benign |
Het |
Tbata |
A |
G |
10: 61,010,099 (GRCm39) |
|
probably benign |
Het |
Tbx4 |
T |
A |
11: 85,802,835 (GRCm39) |
V264E |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,278,438 (GRCm39) |
Y1023* |
probably null |
Het |
Thop1 |
A |
G |
10: 80,911,465 (GRCm39) |
D117G |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,792,604 (GRCm39) |
L13P |
probably damaging |
Het |
Tut7 |
T |
C |
13: 59,969,616 (GRCm39) |
N93S |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,237,754 (GRCm39) |
V637E |
probably damaging |
Het |
Vinac1 |
G |
T |
2: 128,879,149 (GRCm39) |
Q926K |
unknown |
Het |
Yipf3 |
T |
A |
17: 46,561,566 (GRCm39) |
M168K |
probably damaging |
Het |
Zfp119a |
A |
T |
17: 56,173,287 (GRCm39) |
C185* |
probably null |
Het |
Zfyve21 |
A |
T |
12: 111,791,485 (GRCm39) |
I157F |
possibly damaging |
Het |
Zfyve26 |
A |
T |
12: 79,286,828 (GRCm39) |
D2253E |
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 |
|
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 |
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'- AGAGAAGCTTTCTGCCACTGG -3'
(R):5'- CTCTGAGACAAAGCAGTTGC -3'
Sequencing Primer
(F):5'- ACTGGGCCACTCGGATG -3'
(R):5'- GCAGTTGCTGAGAATGGCC -3'
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Posted On |
2019-09-13 |