Incidental Mutation 'R0131:Ptprn2'
| ID |
68308 |
| 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 |
038416-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R0131 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116485720-117276849 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 116722091 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 57
(F57V)
|
| 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: F57V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: F57V
| 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: ENSMUST00000185505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189009
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190247
AA Change: F57V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: F57V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191106
|
| Meta Mutation Damage Score |
0.2904 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
99% (74/75) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530053A07Rik |
A |
G |
7: 28,137,615 (GRCm38) |
R320G |
probably damaging |
Het |
| Abcc12 |
A |
G |
8: 86,531,568 (GRCm38) |
I773T |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,342,723 (GRCm38) |
I1057N |
possibly damaging |
Het |
| Anxa5 |
G |
A |
3: 36,450,672 (GRCm38) |
A247V |
probably damaging |
Het |
| Ascc3 |
T |
G |
10: 50,735,329 (GRCm38) |
W1589G |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,793,782 (GRCm38) |
P389S |
probably damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,982,931 (GRCm38) |
S9T |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,205,326 (GRCm38) |
V589A |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,764,406 (GRCm38) |
M1V |
probably null |
Het |
| Col16a1 |
T |
A |
4: 130,067,096 (GRCm38) |
V449E |
unknown |
Het |
| Cttnbp2nl |
T |
G |
3: 105,005,857 (GRCm38) |
K237T |
probably damaging |
Het |
| Dazap1 |
T |
G |
10: 80,278,226 (GRCm38) |
|
probably null |
Het |
| Fam187b |
T |
A |
7: 30,989,120 (GRCm38) |
V22E |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,273,211 (GRCm38) |
S3073T |
probably benign |
Het |
| Gm16069 |
T |
C |
3: 89,180,925 (GRCm38) |
|
probably benign |
Het |
| Gm4788 |
T |
A |
1: 139,754,271 (GRCm38) |
T196S |
probably damaging |
Het |
| H2-T24 |
T |
A |
17: 36,014,986 (GRCm38) |
I238F |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,333,024 (GRCm38) |
E2658G |
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,480,910 (GRCm38) |
I3826L |
probably benign |
Het |
| Hinfp |
A |
G |
9: 44,299,763 (GRCm38) |
C67R |
probably damaging |
Het |
| Hp1bp3 |
C |
T |
4: 138,237,209 (GRCm38) |
S348F |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,551,887 (GRCm38) |
Y3094H |
probably damaging |
Het |
| Htr1f |
A |
G |
16: 64,926,728 (GRCm38) |
V67A |
probably damaging |
Het |
| Iqcc |
T |
G |
4: 129,616,599 (GRCm38) |
E374D |
probably damaging |
Het |
| Kcnj9 |
T |
C |
1: 172,326,198 (GRCm38) |
T120A |
probably damaging |
Het |
| Kif3a |
A |
G |
11: 53,586,916 (GRCm38) |
K404R |
possibly damaging |
Het |
| Kitl |
C |
T |
10: 100,087,364 (GRCm38) |
P208S |
probably benign |
Het |
| Lpcat4 |
A |
G |
2: 112,246,748 (GRCm38) |
Y479C |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,553,152 (GRCm38) |
N227S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 35,852,581 (GRCm38) |
V1007D |
probably damaging |
Het |
| Mocos |
T |
G |
18: 24,679,762 (GRCm38) |
I571S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,292,188 (GRCm38) |
N659D |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,183,788 (GRCm38) |
V240A |
probably benign |
Het |
| Nap1l1 |
T |
C |
10: 111,485,509 (GRCm38) |
S37P |
probably benign |
Het |
| Nin |
T |
G |
12: 70,051,141 (GRCm38) |
K515T |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,509,118 (GRCm38) |
K258* |
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,644,707 (GRCm38) |
S98T |
possibly damaging |
Het |
| Olfr1037 |
T |
C |
2: 86,085,500 (GRCm38) |
I92M |
probably damaging |
Het |
| Olfr177 |
C |
A |
16: 58,872,906 (GRCm38) |
M81I |
probably benign |
Het |
| Olfr372 |
C |
T |
8: 72,058,400 (GRCm38) |
T240M |
probably damaging |
Het |
| Olfr417 |
T |
C |
1: 174,369,586 (GRCm38) |
V223A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,240,713 (GRCm38) |
|
probably benign |
Het |
| Ppox |
C |
A |
1: 171,279,275 (GRCm38) |
A192S |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,713,653 (GRCm38) |
L1380S |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,405,351 (GRCm38) |
A839E |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 162,278,110 (GRCm38) |
V146I |
probably benign |
Het |
| R3hdm2 |
T |
A |
10: 127,498,453 (GRCm38) |
M915K |
probably damaging |
Het |
| Rab26 |
C |
T |
17: 24,530,785 (GRCm38) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,430,361 (GRCm38) |
E1215G |
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,774,361 (GRCm38) |
K407E |
probably damaging |
Het |
| Siah3 |
G |
A |
14: 75,456,134 (GRCm38) |
V27I |
possibly damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,192,123 (GRCm38) |
N280Y |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 23,855,858 (GRCm38) |
S293F |
probably damaging |
Het |
| Slc25a35 |
A |
G |
11: 68,971,960 (GRCm38) |
Y247C |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,705,530 (GRCm38) |
D55G |
probably benign |
Het |
| Slc35d1 |
C |
T |
4: 103,208,181 (GRCm38) |
V189I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,340,573 (GRCm38) |
R322* |
probably null |
Het |
| Stac3 |
A |
T |
10: 127,503,650 (GRCm38) |
R138S |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,135,924 (GRCm38) |
I73T |
probably benign |
Het |
| Tgtp1 |
A |
G |
11: 48,987,332 (GRCm38) |
F182S |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,545,575 (GRCm38) |
|
probably benign |
Het |
| Tmem116 |
A |
G |
5: 121,493,782 (GRCm38) |
|
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,483,322 (GRCm38) |
C306* |
probably null |
Het |
| Tspyl1 |
A |
G |
10: 34,283,089 (GRCm38) |
N270S |
probably damaging |
Het |
| Tusc1 |
A |
T |
4: 93,334,833 (GRCm38) |
H196Q |
probably benign |
Het |
| Ugt2a1 |
T |
A |
5: 87,474,861 (GRCm38) |
K293* |
probably null |
Het |
| Vmn2r102 |
A |
C |
17: 19,678,763 (GRCm38) |
T456P |
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,712,249 (GRCm38) |
S139R |
probably benign |
Het |
| Zfp879 |
C |
A |
11: 50,833,599 (GRCm38) |
G210V |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 56,943,258 (GRCm38) |
N876D |
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 |
|
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 |
|
R6488:Ptprn2
|
UTSW |
12 |
116,872,038 (GRCm38) |
missense |
probably benign |
0.13 |
|
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'- AATTCACCATGCCAGGGCCATAG -3'
(R):5'- GCCTTTCTTACTACAGGCCATGCAG -3'
Sequencing Primer
(F):5'- CAGGGCCATAGTCCCATTC -3'
(R):5'- GGCCTCACCTGGACACC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation