Incidental Mutation 'R4193:Ptprn2'
| ID |
318436 |
| 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 |
041024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R4193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116485720-117276849 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116901008 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 548
(I548V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
| AlphaFold |
P80560 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070733
AA Change: I548V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: I548V
| 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: ENSMUST00000189009
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190247
AA Change: I548V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: I548V
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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 |
|---|
| 4930474N05Rik |
G |
T |
14: 36,096,579 (GRCm38) |
R178L |
possibly damaging |
Het |
| Abcb1a |
G |
A |
5: 8,715,068 (GRCm38) |
|
probably null |
Het |
| Acap3 |
A |
G |
4: 155,901,777 (GRCm38) |
T285A |
probably benign |
Het |
| Adam20 |
A |
T |
8: 40,795,315 (GRCm38) |
N154I |
probably damaging |
Het |
| Adamts8 |
A |
T |
9: 30,959,308 (GRCm38) |
D693V |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,335,945 (GRCm38) |
H226R |
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,743,103 (GRCm38) |
S7G |
probably benign |
Het |
| Atxn7l3b |
C |
A |
10: 112,928,705 (GRCm38) |
L6F |
probably damaging |
Het |
| Bco1 |
C |
T |
8: 117,113,469 (GRCm38) |
T242M |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,250,482 (GRCm38) |
N268S |
probably benign |
Het |
| Capn9 |
A |
G |
8: 124,600,486 (GRCm38) |
S292G |
probably null |
Het |
| Col7a1 |
G |
A |
9: 108,956,672 (GRCm38) |
S403N |
unknown |
Het |
| Ctps |
A |
G |
4: 120,548,138 (GRCm38) |
V369A |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,011,348 (GRCm38) |
L256Q |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,447,334 (GRCm38) |
K3356R |
probably benign |
Het |
| Dpf2 |
G |
A |
19: 5,907,016 (GRCm38) |
R60* |
probably null |
Het |
| Eif3h |
A |
T |
15: 51,799,299 (GRCm38) |
V117E |
probably damaging |
Het |
| Fam234a |
A |
T |
17: 26,213,860 (GRCm38) |
L467Q |
probably damaging |
Het |
| Fez1 |
T |
A |
9: 36,843,727 (GRCm38) |
S7R |
probably damaging |
Het |
| Fh1 |
T |
A |
1: 175,614,841 (GRCm38) |
M148L |
possibly damaging |
Het |
| Gabra2 |
G |
A |
5: 71,007,998 (GRCm38) |
P210S |
probably benign |
Het |
| Gfm1 |
T |
G |
3: 67,431,720 (GRCm38) |
I52S |
probably damaging |
Het |
| Gm13089 |
A |
T |
4: 143,698,333 (GRCm38) |
L180Q |
probably damaging |
Het |
| Gm281 |
C |
T |
14: 13,914,416 (GRCm38) |
V9I |
probably benign |
Het |
| Gm6729 |
A |
T |
10: 86,540,619 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr152 |
T |
G |
19: 4,142,907 (GRCm38) |
L149R |
probably damaging |
Het |
| Hist3h2ba |
T |
A |
11: 58,949,241 (GRCm38) |
L101Q |
probably damaging |
Het |
| Ifnar2 |
A |
T |
16: 91,404,344 (GRCm38) |
D491V |
probably damaging |
Het |
| Igkv14-126 |
T |
C |
6: 67,896,383 (GRCm38) |
S32P |
possibly damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,365,048 (GRCm38) |
E443G |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,268,411 (GRCm38) |
D1100G |
probably benign |
Het |
| Itga2 |
G |
A |
13: 114,886,649 (GRCm38) |
R56* |
probably null |
Het |
| Itga2b |
A |
G |
11: 102,469,685 (GRCm38) |
S10P |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 67,096,681 (GRCm38) |
|
probably benign |
Het |
| Kdm7a |
T |
G |
6: 39,169,096 (GRCm38) |
K299T |
probably damaging |
Het |
| Large2 |
T |
A |
2: 92,365,359 (GRCm38) |
D632V |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,467,143 (GRCm38) |
C3158Y |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,447,675 (GRCm38) |
D213E |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,467,342 (GRCm38) |
Q367R |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,807,465 (GRCm38) |
L1464P |
probably damaging |
Het |
| Olfr1016 |
C |
T |
2: 85,800,018 (GRCm38) |
C84Y |
probably benign |
Het |
| Olfr1037 |
T |
A |
2: 86,085,700 (GRCm38) |
I26F |
probably benign |
Het |
| Olfr1385 |
A |
C |
11: 49,495,307 (GRCm38) |
Y258S |
probably damaging |
Het |
| Olfr19 |
A |
T |
16: 16,673,647 (GRCm38) |
D111E |
possibly damaging |
Het |
| Olfr384 |
C |
G |
11: 73,603,417 (GRCm38) |
T279R |
probably damaging |
Het |
| P2ry2 |
A |
G |
7: 100,998,450 (GRCm38) |
V216A |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,267,146 (GRCm38) |
K717E |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,763,541 (GRCm38) |
D555H |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 66,025,308 (GRCm38) |
S476P |
probably damaging |
Het |
| Phactr3 |
T |
A |
2: 178,283,152 (GRCm38) |
H293Q |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,952,004 (GRCm38) |
D74G |
possibly damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,373,118 (GRCm38) |
T286A |
probably benign |
Het |
| Prkag2 |
A |
C |
5: 24,878,760 (GRCm38) |
M75R |
probably damaging |
Het |
| Prl7c1 |
T |
A |
13: 27,776,278 (GRCm38) |
M94L |
probably benign |
Het |
| Prodh |
C |
T |
16: 18,073,640 (GRCm38) |
V480I |
probably benign |
Het |
| Ptprr |
T |
C |
10: 116,252,864 (GRCm38) |
W307R |
probably damaging |
Het |
| Rab29 |
T |
C |
1: 131,869,962 (GRCm38) |
S52P |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,342,573 (GRCm38) |
F1505L |
probably damaging |
Het |
| Scn8a |
C |
T |
15: 100,971,603 (GRCm38) |
A209V |
probably damaging |
Het |
| Senp2 |
G |
T |
16: 22,046,667 (GRCm38) |
W580L |
probably damaging |
Het |
| Sept4 |
A |
T |
11: 87,583,316 (GRCm38) |
|
probably null |
Het |
| Slc17a5 |
C |
A |
9: 78,559,106 (GRCm38) |
V269L |
possibly damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,398,706 (GRCm38) |
N299S |
probably damaging |
Het |
| Slc41a2 |
T |
A |
10: 83,301,221 (GRCm38) |
H274L |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,863,959 (GRCm38) |
D43E |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,253,179 (GRCm38) |
I121N |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,914,062 (GRCm38) |
|
probably benign |
Het |
| Tbl1xr1 |
T |
C |
3: 22,200,358 (GRCm38) |
F322L |
possibly damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,851,341 (GRCm38) |
L611* |
probably null |
Het |
| Tgfbr2 |
T |
C |
9: 116,109,941 (GRCm38) |
T298A |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,289,304 (GRCm38) |
V217A |
probably damaging |
Het |
| Ttbk1 |
A |
T |
17: 46,479,247 (GRCm38) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,586,826 (GRCm38) |
H219R |
probably benign |
Het |
| Vmn1r71 |
A |
T |
7: 10,748,248 (GRCm38) |
I105K |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,428,239 (GRCm38) |
F168L |
probably benign |
Het |
| Zfp945 |
C |
T |
17: 22,851,170 (GRCm38) |
|
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 |
|
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 |
|
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'- TGAAAACAGAGCCCTAGTATCC -3'
(R):5'- CTCTGCCATGAACTGCTGTG -3'
Sequencing Primer
(F):5'- GTATCCAAAAGAAACACCACGAGGG -3'
(R):5'- CTGCCATGAACTGCTGTGAACATG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation