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 |
IA-2 beta, PTP-NP, 4930425H11Rik, IA-2beta, phogrin |
MMRRC Submission |
041024-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R4193 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116864628 bp (GRCm39)
|
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: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
Abcb1a |
G |
A |
5: 8,765,068 (GRCm39) |
|
probably null |
Het |
Acap3 |
A |
G |
4: 155,986,234 (GRCm39) |
T285A |
probably benign |
Het |
Adam20 |
A |
T |
8: 41,248,352 (GRCm39) |
N154I |
probably damaging |
Het |
Adamts8 |
A |
T |
9: 30,870,604 (GRCm39) |
D693V |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,211,941 (GRCm39) |
H226R |
probably benign |
Het |
Atp6v1b1 |
A |
G |
6: 83,720,085 (GRCm39) |
S7G |
probably benign |
Het |
Atxn7l3b |
C |
A |
10: 112,764,610 (GRCm39) |
L6F |
probably damaging |
Het |
Bco1 |
C |
T |
8: 117,840,208 (GRCm39) |
T242M |
probably damaging |
Het |
Btla |
A |
G |
16: 45,070,845 (GRCm39) |
N268S |
probably benign |
Het |
Capn9 |
A |
G |
8: 125,327,225 (GRCm39) |
S292G |
probably null |
Het |
Cdhr18 |
C |
T |
14: 13,914,416 (GRCm38) |
V9I |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,785,740 (GRCm39) |
S403N |
unknown |
Het |
Ctps1 |
A |
G |
4: 120,405,335 (GRCm39) |
V369A |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,486,493 (GRCm39) |
K3356R |
probably benign |
Het |
Dpf2 |
G |
A |
19: 5,957,044 (GRCm39) |
R60* |
probably null |
Het |
Eif3h |
A |
T |
15: 51,662,695 (GRCm39) |
V117E |
probably damaging |
Het |
Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
Fez1 |
T |
A |
9: 36,755,023 (GRCm39) |
S7R |
probably damaging |
Het |
Fh1 |
T |
A |
1: 175,442,407 (GRCm39) |
M148L |
possibly damaging |
Het |
Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
Gfm1 |
T |
G |
3: 67,339,053 (GRCm39) |
I52S |
probably damaging |
Het |
Gm6729 |
A |
T |
10: 86,376,483 (GRCm39) |
|
noncoding transcript |
Het |
Gpr152 |
T |
G |
19: 4,192,906 (GRCm39) |
L149R |
probably damaging |
Het |
H2bc27 |
T |
A |
11: 58,840,067 (GRCm39) |
L101Q |
probably damaging |
Het |
Ifnar2 |
A |
T |
16: 91,201,232 (GRCm39) |
D491V |
probably damaging |
Het |
Igkv14-126 |
T |
C |
6: 67,873,367 (GRCm39) |
S32P |
possibly damaging |
Het |
Il1rl2 |
A |
G |
1: 40,404,208 (GRCm39) |
E443G |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,088,774 (GRCm39) |
D1100G |
probably benign |
Het |
Itga2 |
G |
A |
13: 115,023,185 (GRCm39) |
R56* |
probably null |
Het |
Itga2b |
A |
G |
11: 102,360,511 (GRCm39) |
S10P |
probably benign |
Het |
Jmjd1c |
C |
T |
10: 66,932,460 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
T |
G |
6: 39,146,030 (GRCm39) |
K299T |
probably damaging |
Het |
Large2 |
T |
A |
2: 92,195,704 (GRCm39) |
D632V |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,297,487 (GRCm39) |
C3158Y |
probably damaging |
Het |
Malt1 |
T |
A |
18: 65,580,746 (GRCm39) |
D213E |
probably benign |
Het |
Nkapl |
T |
C |
13: 21,651,512 (GRCm39) |
Q367R |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,964,808 (GRCm39) |
L1464P |
probably damaging |
Het |
Or1e25 |
C |
G |
11: 73,494,243 (GRCm39) |
T279R |
probably damaging |
Het |
Or2y1 |
A |
C |
11: 49,386,134 (GRCm39) |
Y258S |
probably damaging |
Het |
Or7a40 |
A |
T |
16: 16,491,511 (GRCm39) |
D111E |
possibly damaging |
Het |
Or8u10 |
T |
A |
2: 85,916,044 (GRCm39) |
I26F |
probably benign |
Het |
Or9g20 |
C |
T |
2: 85,630,362 (GRCm39) |
C84Y |
probably benign |
Het |
P2ry2 |
A |
G |
7: 100,647,657 (GRCm39) |
V216A |
probably benign |
Het |
Pcdhb1 |
A |
G |
18: 37,400,199 (GRCm39) |
K717E |
probably damaging |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
Phactr3 |
T |
A |
2: 177,924,945 (GRCm39) |
H293Q |
probably damaging |
Het |
Pias1 |
T |
C |
9: 62,859,286 (GRCm39) |
D74G |
possibly damaging |
Het |
Plekhg6 |
T |
C |
6: 125,350,081 (GRCm39) |
T286A |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,424,903 (GRCm39) |
L180Q |
probably damaging |
Het |
Prkag2 |
A |
C |
5: 25,083,758 (GRCm39) |
M75R |
probably damaging |
Het |
Prl7c1 |
T |
A |
13: 27,960,261 (GRCm39) |
M94L |
probably benign |
Het |
Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
Ptprr |
T |
C |
10: 116,088,769 (GRCm39) |
W307R |
probably damaging |
Het |
Rab29 |
T |
C |
1: 131,797,700 (GRCm39) |
S52P |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,184,493 (GRCm39) |
F1505L |
probably damaging |
Het |
Scn8a |
C |
T |
15: 100,869,484 (GRCm39) |
A209V |
probably damaging |
Het |
Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
Septin4 |
A |
T |
11: 87,474,142 (GRCm39) |
|
probably null |
Het |
Slc17a5 |
C |
A |
9: 78,466,388 (GRCm39) |
V269L |
possibly damaging |
Het |
Slc2a9 |
T |
C |
5: 38,556,049 (GRCm39) |
N299S |
probably damaging |
Het |
Slc41a2 |
T |
A |
10: 83,137,085 (GRCm39) |
H274L |
probably damaging |
Het |
Suco |
A |
T |
1: 161,691,528 (GRCm39) |
D43E |
probably benign |
Het |
Tacr2 |
T |
A |
10: 62,088,958 (GRCm39) |
I121N |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,804,888 (GRCm39) |
|
probably benign |
Het |
Tbl1xr1 |
T |
C |
3: 22,254,522 (GRCm39) |
F322L |
possibly damaging |
Het |
Tdrd1 |
T |
A |
19: 56,839,773 (GRCm39) |
L611* |
probably null |
Het |
Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
Tmprss12 |
T |
C |
15: 100,187,185 (GRCm39) |
V217A |
probably damaging |
Het |
Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
Vmn1r71 |
A |
T |
7: 10,482,175 (GRCm39) |
I105K |
possibly damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,077,663 (GRCm39) |
F168L |
probably benign |
Het |
Zfp945 |
C |
T |
17: 23,070,144 (GRCm39) |
|
probably benign |
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 |
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 |
R7355:Ptprn2
|
UTSW |
12 |
116,822,571 (GRCm39) |
missense |
probably benign |
|
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'- TGAAAACAGAGCCCTAGTATCC -3'
(R):5'- CTCTGCCATGAACTGCTGTG -3'
Sequencing Primer
(F):5'- GTATCCAAAAGAAACACCACGAGGG -3'
(R):5'- CTGCCATGAACTGCTGTGAACATG -3'
|
Posted On |
2015-06-10 |