Incidental Mutation 'R7120:Ptprn2'
| ID |
551954 |
| 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 |
045209-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R7120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116485720-117276849 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 116872056 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 337
(E337A)
|
| 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: E337A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: E337A
| 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: E337A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: E337A
| 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: 99.4%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
A |
T |
3: 36,481,867 (GRCm38) |
Q94L |
unknown |
Het |
| 4933411K16Rik |
C |
T |
19: 42,052,673 (GRCm38) |
A81V |
probably benign |
Het |
| Actr3 |
A |
C |
1: 125,403,432 (GRCm38) |
Y273* |
probably null |
Het |
| Aoc1 |
T |
A |
6: 48,906,597 (GRCm38) |
I469N |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 97,944,539 (GRCm38) |
L1270Q |
probably damaging |
Het |
| Atp2c1 |
G |
A |
9: 105,420,186 (GRCm38) |
Q780* |
probably null |
Het |
| Bbs10 |
T |
C |
10: 111,299,449 (GRCm38) |
V141A |
possibly damaging |
Het |
| Bivm |
A |
T |
1: 44,126,446 (GRCm38) |
T19S |
probably benign |
Het |
| Cacna1h |
T |
G |
17: 25,391,507 (GRCm38) |
H675P |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,439,919 (GRCm38) |
L1204F |
probably damaging |
Het |
| Cald1 |
T |
C |
6: 34,686,076 (GRCm38) |
|
probably null |
Het |
| Calr |
A |
G |
8: 84,842,828 (GRCm38) |
M357T |
probably damaging |
Het |
| Ccni |
A |
T |
5: 93,183,331 (GRCm38) |
Y260* |
probably null |
Het |
| Csrnp3 |
C |
A |
2: 66,023,010 (GRCm38) |
T594K |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,100,183 (GRCm38) |
M152K |
unknown |
Het |
| Depdc1b |
T |
C |
13: 108,362,247 (GRCm38) |
W155R |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,297,561 (GRCm38) |
K315R |
probably benign |
Het |
| Epn3 |
C |
A |
11: 94,492,428 (GRCm38) |
R323S |
probably benign |
Het |
| Fam57b |
T |
C |
7: 126,829,333 (GRCm38) |
L221P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,372,486 (GRCm38) |
N340Y |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,040,533 (GRCm38) |
K891* |
probably null |
Het |
| Fras1 |
G |
T |
5: 96,752,960 (GRCm38) |
G3013* |
probably null |
Het |
| Gbp2b |
A |
G |
3: 142,606,746 (GRCm38) |
T297A |
probably benign |
Het |
| Gbp7 |
T |
C |
3: 142,543,973 (GRCm38) |
S402P |
probably damaging |
Het |
| Gclc |
T |
C |
9: 77,786,750 (GRCm38) |
Y329H |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,087,393 (GRCm38) |
H655R |
probably benign |
Het |
| Gm4787 |
C |
A |
12: 81,378,486 (GRCm38) |
M299I |
probably benign |
Het |
| Grb7 |
C |
A |
11: 98,454,991 (GRCm38) |
R532S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,700,541 (GRCm38) |
I2066N |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,034,057 (GRCm38) |
T518A |
probably benign |
Het |
| Hps3 |
G |
A |
3: 20,011,541 (GRCm38) |
R712W |
probably damaging |
Het |
| Hspd1 |
A |
G |
1: 55,079,229 (GRCm38) |
V406A |
probably benign |
Het |
| Igkv2-112 |
T |
C |
6: 68,220,526 (GRCm38) |
F61L |
probably benign |
Het |
| Iqcf5 |
G |
A |
9: 106,515,796 (GRCm38) |
R84H |
probably damaging |
Het |
| Itgad |
T |
A |
7: 128,173,974 (GRCm38) |
M1K |
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,861,065 (GRCm38) |
S1292P |
unknown |
Het |
| Macc1 |
C |
A |
12: 119,445,745 (GRCm38) |
Q83K |
possibly damaging |
Het |
| Map3k4 |
G |
T |
17: 12,271,467 (GRCm38) |
A359E |
probably damaging |
Het |
| Mfap3 |
T |
A |
11: 57,528,217 (GRCm38) |
C68S |
probably damaging |
Het |
| Mipep |
C |
T |
14: 60,875,247 (GRCm38) |
R660C |
possibly damaging |
Het |
| Morc2b |
A |
T |
17: 33,135,813 (GRCm38) |
L995Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,308,697 (GRCm38) |
N913S |
probably damaging |
Het |
| N4bp1 |
C |
A |
8: 86,860,867 (GRCm38) |
C481F |
probably benign |
Het |
| Nae1 |
A |
G |
8: 104,526,278 (GRCm38) |
|
probably null |
Het |
| Nup214 |
T |
A |
2: 32,051,042 (GRCm38) |
V29E |
probably benign |
Het |
| Olfr251 |
T |
C |
9: 38,378,649 (GRCm38) |
L250P |
probably damaging |
Het |
| Olfr390 |
A |
T |
11: 73,787,114 (GRCm38) |
M59L |
probably damaging |
Het |
| Orai1 |
A |
G |
5: 123,029,472 (GRCm38) |
E236G |
possibly damaging |
Het |
| P2rx7 |
A |
G |
5: 122,681,294 (GRCm38) |
Y593C |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,474,678 (GRCm38) |
D77G |
possibly damaging |
Het |
| Pcdha8 |
G |
A |
18: 36,993,787 (GRCm38) |
V441M |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm38) |
|
probably benign |
Het |
| Plaa |
A |
G |
4: 94,582,682 (GRCm38) |
S406P |
possibly damaging |
Het |
| Plekhh1 |
C |
A |
12: 79,070,939 (GRCm38) |
P903Q |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,168,238 (GRCm38) |
E92G |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 57,059,882 (GRCm38) |
F463S |
probably damaging |
Het |
| Rubcn |
C |
T |
16: 32,836,469 (GRCm38) |
R527Q |
probably damaging |
Het |
| Samd3 |
C |
T |
10: 26,230,966 (GRCm38) |
T73M |
possibly damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,852,039 (GRCm38) |
K173* |
probably null |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,656,691 (GRCm38) |
|
probably benign |
Het |
| Son |
T |
G |
16: 91,670,526 (GRCm38) |
N2258K |
unknown |
Het |
| Sspo |
A |
T |
6: 48,465,571 (GRCm38) |
H2000L |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,293,971 (GRCm38) |
S2731N |
probably benign |
Het |
| Syt6 |
T |
C |
3: 103,587,357 (GRCm38) |
Y213H |
probably damaging |
Het |
| Tkt |
A |
G |
14: 30,559,822 (GRCm38) |
N99S |
probably benign |
Het |
| Tmem258 |
G |
A |
19: 10,204,238 (GRCm38) |
|
probably benign |
Het |
| Tnks1bp1 |
T |
C |
2: 85,072,097 (GRCm38) |
S1702P |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,327,673 (GRCm38) |
D225G |
probably damaging |
Het |
| Trak1 |
T |
A |
9: 121,460,498 (GRCm38) |
F625L |
probably benign |
Het |
| Ttc33 |
G |
T |
15: 5,212,007 (GRCm38) |
C77F |
probably benign |
Het |
| Ugt1a2 |
A |
G |
1: 88,200,800 (GRCm38) |
H55R |
probably damaging |
Het |
| Vmn1r169 |
G |
T |
7: 23,578,019 (GRCm38) |
V279L |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,828,435 (GRCm38) |
K488E |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,808,638 (GRCm38) |
D39E |
possibly damaging |
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 |
|
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 |
|
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'- CCAAGCCAGGCTACTTCTTATG -3'
(R):5'- ATGGCATGGTCTCACTCCTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation