Incidental Mutation 'R8716:Ptprn2'
| ID |
669902 |
| 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 |
068569-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R8716 (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 G
at 117255548 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 933
(D933G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
| AlphaFold |
P80560 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070733
AA Change: D933G
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: D933G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
| 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: 99.9%
- 20x: 99.5%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,293,774 (GRCm38) |
Y1879C |
probably benign |
Het |
| Abce1 |
A |
T |
8: 79,701,155 (GRCm38) |
I168N |
possibly damaging |
Het |
| Acan |
G |
A |
7: 79,112,690 (GRCm38) |
R2004H |
probably damaging |
Het |
| Acsm4 |
T |
A |
7: 119,708,660 (GRCm38) |
L340Q |
probably damaging |
Het |
| Actmap |
C |
A |
7: 27,197,206 (GRCm38) |
P65T |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,773,264 (GRCm38) |
N342K |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,188,371 (GRCm38) |
D725V |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 9,009,074 (GRCm38) |
L2574Q |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,942,839 (GRCm38) |
L3132* |
probably null |
Het |
| Ap3b2 |
T |
G |
7: 81,477,153 (GRCm38) |
E283A |
probably benign |
Het |
| Asb17 |
A |
T |
3: 153,853,514 (GRCm38) |
L287F |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,907,415 (GRCm38) |
N1541K |
probably benign |
Het |
| Bcas3 |
G |
A |
11: 85,581,042 (GRCm38) |
V711I |
probably damaging |
Het |
| Ccdc82 |
T |
G |
9: 13,253,297 (GRCm38) |
Y262* |
probably null |
Het |
| Cd209d |
CAT |
C |
8: 3,873,772 (GRCm38) |
|
probably null |
Het |
| Cdc23 |
GAGACTACCGAAGA |
GAGA |
18: 34,651,682 (GRCm38) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,964,632 (GRCm38) |
L1571F |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,844,594 (GRCm38) |
V197I |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,527,914 (GRCm38) |
S932G |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,096,601 (GRCm38) |
D182E |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 110,983,611 (GRCm38) |
E119G |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 31,267,984 (GRCm38) |
|
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,780,785 (GRCm38) |
L1761* |
probably null |
Het |
| Ehd2 |
A |
G |
7: 15,964,181 (GRCm38) |
S44P |
probably benign |
Het |
| Exoc2 |
T |
A |
13: 30,911,244 (GRCm38) |
H223L |
probably damaging |
Het |
| Fam217a |
G |
A |
13: 34,924,265 (GRCm38) |
|
probably benign |
Het |
| Farp1 |
A |
G |
14: 121,242,443 (GRCm38) |
N382S |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,284,021 (GRCm38) |
L1633Q |
probably damaging |
Het |
| Gpn1 |
C |
T |
5: 31,499,298 (GRCm38) |
T115I |
probably benign |
Het |
| Gstcd |
T |
C |
3: 132,983,189 (GRCm38) |
D600G |
probably damaging |
Het |
| Ighv16-1 |
A |
C |
12: 114,068,996 (GRCm38) |
M62R |
probably benign |
Het |
| Igsf3 |
T |
G |
3: 101,427,423 (GRCm38) |
V272G |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,557,953 (GRCm38) |
V409A |
probably damaging |
Het |
| Kcnh8 |
C |
T |
17: 52,977,752 (GRCm38) |
P917S |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,937,195 (GRCm38) |
T114A |
probably damaging |
Het |
| Krt35 |
A |
G |
11: 100,096,185 (GRCm38) |
M1T |
probably null |
Het |
| Lgals4 |
C |
T |
7: 28,841,496 (GRCm38) |
R282C |
probably damaging |
Het |
| Lonp2 |
T |
C |
8: 86,716,305 (GRCm38) |
I798T |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,443,794 (GRCm38) |
T3971S |
probably benign |
Het |
| LTO1 |
G |
T |
7: 144,915,193 (GRCm38) |
|
probably benign |
Het |
| Mcc |
C |
A |
18: 44,449,336 (GRCm38) |
V758F |
possibly damaging |
Het |
| Naip2 |
C |
T |
13: 100,144,406 (GRCm38) |
V1433I |
probably benign |
Het |
| Ndfip1 |
T |
C |
18: 38,452,331 (GRCm38) |
F133L |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,445,990 (GRCm38) |
E466V |
probably damaging |
Het |
| Nwd1 |
A |
G |
8: 72,662,280 (GRCm38) |
D112G |
probably damaging |
Het |
| Opn4 |
G |
T |
14: 34,593,862 (GRCm38) |
R405S |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,768,821 (GRCm38) |
S160P |
probably damaging |
Het |
| Or2i1 |
C |
T |
17: 37,197,408 (GRCm38) |
V112M |
possibly damaging |
Het |
| Or4c110 |
T |
C |
2: 89,001,716 (GRCm38) |
T191A |
|
Het |
| Or7e168 |
C |
T |
9: 19,808,869 (GRCm38) |
L184F |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 76,017,894 (GRCm38) |
D863V |
probably damaging |
Het |
| Plat |
G |
T |
8: 22,772,232 (GRCm38) |
G91W |
probably damaging |
Het |
| Plekhf1 |
A |
T |
7: 38,221,898 (GRCm38) |
L82Q |
probably damaging |
Het |
| Pou4f3 |
G |
T |
18: 42,395,528 (GRCm38) |
D179Y |
possibly damaging |
Het |
| Ppp1r12a |
G |
A |
10: 108,260,888 (GRCm38) |
R713H |
probably damaging |
Het |
| Psg17 |
C |
A |
7: 18,821,385 (GRCm38) |
G11W |
probably benign |
Het |
| Ptprh |
A |
T |
7: 4,564,274 (GRCm38) |
V533D |
probably damaging |
Het |
| Rab7 |
T |
C |
6: 88,012,387 (GRCm38) |
S34G |
probably damaging |
Het |
| Rfx6 |
A |
C |
10: 51,681,872 (GRCm38) |
H147P |
probably damaging |
Het |
| Rprd2 |
T |
C |
3: 95,776,793 (GRCm38) |
Y310C |
probably damaging |
Het |
| Samd11 |
A |
G |
4: 156,249,270 (GRCm38) |
F201S |
probably benign |
Het |
| Sox7 |
A |
G |
14: 63,948,588 (GRCm38) |
T358A |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,905,941 (GRCm38) |
P2618S |
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,482,738 (GRCm38) |
T364M |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,766,922 (GRCm38) |
L19882F |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,269,224 (GRCm38) |
R202Q |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,468,853 (GRCm38) |
W1267R |
unknown |
Het |
| Usp42 |
G |
A |
5: 143,717,941 (GRCm38) |
P456S |
probably damaging |
Het |
| Vmn1r235 |
T |
C |
17: 21,262,292 (GRCm38) |
V293A |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,704,081 (GRCm38) |
H47Q |
probably damaging |
Het |
| Vps13d |
T |
A |
4: 145,075,778 (GRCm38) |
T3503S |
|
Het |
| Vwa5b2 |
T |
A |
16: 20,596,276 (GRCm38) |
N349K |
probably benign |
Het |
| Zeb1 |
A |
T |
18: 5,767,958 (GRCm38) |
Y823F |
probably damaging |
Het |
| Zfp273 |
T |
A |
13: 67,825,934 (GRCm38) |
C394S |
probably damaging |
Het |
| Zfp286 |
G |
T |
11: 62,780,991 (GRCm38) |
A147D |
unknown |
Het |
| Zfp831 |
A |
G |
2: 174,705,256 (GRCm38) |
T1411A |
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 |
|
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 |
|
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'- GGGCCACATCTCAGAGTAAAGG -3'
(R):5'- TCAACACCACTTGACTCAGG -3'
Sequencing Primer
(F):5'- AGCATTCTGAGAGAACCGTTCCTG -3'
(R):5'- CCACTTGACTCAGGAAAGGGAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation