Incidental Mutation 'R4706:Ptprn2'
ID |
355252 |
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 |
041954-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R4706 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 116835714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 350
(Q350K)
|
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: Q350K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: Q350K
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: Q350K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: Q350K
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: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,064,988 (GRCm39) |
N548K |
probably damaging |
Het |
Abcd2 |
T |
C |
15: 91,043,385 (GRCm39) |
D601G |
probably benign |
Het |
Afap1l2 |
A |
T |
19: 56,925,672 (GRCm39) |
I152N |
possibly damaging |
Het |
Ankrd52 |
T |
G |
10: 128,214,030 (GRCm39) |
M62R |
probably benign |
Het |
Aox4 |
A |
T |
1: 58,305,946 (GRCm39) |
T1317S |
probably damaging |
Het |
Apol7c |
T |
A |
15: 77,409,923 (GRCm39) |
Q341L |
probably benign |
Het |
Arhgef4 |
C |
T |
1: 34,771,298 (GRCm39) |
R1202W |
probably benign |
Het |
B4galnt2 |
C |
T |
11: 95,766,923 (GRCm39) |
|
probably null |
Het |
Cecr2 |
A |
T |
6: 120,732,539 (GRCm39) |
E477V |
possibly damaging |
Het |
Chmp7 |
A |
T |
14: 69,956,010 (GRCm39) |
D419E |
probably benign |
Het |
Cmip |
A |
C |
8: 118,103,893 (GRCm39) |
K127T |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,438,544 (GRCm39) |
V3041A |
probably benign |
Het |
Cyp1b1 |
T |
A |
17: 80,020,771 (GRCm39) |
I324F |
possibly damaging |
Het |
Dapp1 |
T |
C |
3: 137,638,928 (GRCm39) |
D225G |
probably benign |
Het |
Ddx10 |
T |
C |
9: 53,145,231 (GRCm39) |
T249A |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,361,878 (GRCm39) |
Y213H |
probably damaging |
Het |
Eef1a2 |
T |
C |
2: 180,797,150 (GRCm39) |
D17G |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,212,069 (GRCm39) |
I848V |
probably benign |
Het |
Fbxw18 |
A |
G |
9: 109,519,585 (GRCm39) |
I307T |
probably benign |
Het |
Fxr1 |
T |
A |
3: 34,118,278 (GRCm39) |
D500E |
probably damaging |
Het |
Gars1 |
G |
A |
6: 55,046,363 (GRCm39) |
G492D |
probably damaging |
Het |
Gria2 |
A |
T |
3: 80,648,297 (GRCm39) |
D146E |
probably benign |
Het |
Gstz1 |
A |
G |
12: 87,205,894 (GRCm39) |
N37S |
probably benign |
Het |
Hnrnph3 |
C |
A |
10: 62,853,059 (GRCm39) |
G194V |
probably damaging |
Het |
Il2rb |
T |
C |
15: 78,370,600 (GRCm39) |
R172G |
possibly damaging |
Het |
Itga11 |
T |
A |
9: 62,662,578 (GRCm39) |
V517D |
possibly damaging |
Het |
Kcnq4 |
A |
G |
4: 120,561,683 (GRCm39) |
I462T |
probably benign |
Het |
Klf6 |
T |
A |
13: 5,911,639 (GRCm39) |
M1K |
probably null |
Het |
Lrp8 |
G |
A |
4: 107,718,470 (GRCm39) |
A817T |
probably benign |
Het |
Map3k5 |
T |
A |
10: 19,934,684 (GRCm39) |
Y509N |
probably damaging |
Het |
Mdc1 |
C |
T |
17: 36,163,671 (GRCm39) |
S1073F |
probably damaging |
Het |
Mme |
A |
G |
3: 63,256,133 (GRCm39) |
D531G |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mroh7 |
A |
T |
4: 106,548,821 (GRCm39) |
V1014E |
possibly damaging |
Het |
Msantd5l |
A |
T |
11: 51,144,668 (GRCm39) |
F204L |
possibly damaging |
Het |
Myo1d |
C |
T |
11: 80,557,467 (GRCm39) |
C491Y |
probably damaging |
Het |
Ncoa3 |
C |
A |
2: 165,889,799 (GRCm39) |
D61E |
probably damaging |
Het |
Nmrk1 |
A |
G |
19: 18,622,491 (GRCm39) |
E190G |
probably benign |
Het |
Nr4a2 |
G |
T |
2: 57,002,225 (GRCm39) |
P13H |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,178,943 (GRCm39) |
L671P |
probably damaging |
Het |
Omt2a |
T |
C |
9: 78,220,352 (GRCm39) |
I16V |
probably benign |
Het |
Or4c116 |
A |
T |
2: 88,942,576 (GRCm39) |
F93L |
probably damaging |
Het |
Or51f2 |
T |
A |
7: 102,526,640 (GRCm39) |
H104Q |
probably damaging |
Het |
Or6n1 |
A |
G |
1: 173,917,268 (GRCm39) |
I221V |
probably damaging |
Het |
Or8k24 |
G |
A |
2: 86,216,732 (GRCm39) |
T10I |
probably benign |
Het |
Or8s5 |
G |
T |
15: 98,238,659 (GRCm39) |
H70Q |
possibly damaging |
Het |
Osbpl9 |
A |
T |
4: 109,013,884 (GRCm39) |
I70N |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,764,221 (GRCm39) |
L4231F |
unknown |
Het |
Per1 |
C |
T |
11: 68,991,444 (GRCm39) |
|
probably benign |
Het |
Perm1 |
G |
T |
4: 156,301,531 (GRCm39) |
C25F |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,844,687 (GRCm39) |
V1424A |
probably damaging |
Het |
Plxnb1 |
T |
G |
9: 108,941,096 (GRCm39) |
L1625R |
probably damaging |
Het |
Ppid |
G |
A |
3: 79,506,359 (GRCm39) |
V216I |
probably benign |
Het |
Ppp4r3a |
C |
T |
12: 101,008,175 (GRCm39) |
G754D |
probably damaging |
Het |
Prex2 |
G |
T |
1: 11,270,212 (GRCm39) |
W1299L |
probably damaging |
Het |
Ralyl |
G |
A |
3: 14,104,850 (GRCm39) |
|
probably null |
Het |
Rbm8a |
G |
A |
3: 96,537,368 (GRCm39) |
|
probably benign |
Het |
Relch |
T |
A |
1: 105,620,004 (GRCm39) |
M353K |
probably benign |
Het |
Ros1 |
A |
G |
10: 51,977,990 (GRCm39) |
S1419P |
possibly damaging |
Het |
Rps6ka5 |
C |
T |
12: 100,564,144 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
T |
A |
12: 100,547,578 (GRCm39) |
I311F |
probably damaging |
Het |
Rtel1 |
T |
C |
2: 180,965,539 (GRCm39) |
|
probably null |
Het |
Sacs |
A |
G |
14: 61,441,722 (GRCm39) |
E1256G |
probably damaging |
Het |
Sec23a |
A |
G |
12: 59,029,372 (GRCm39) |
V467A |
probably damaging |
Het |
Sec24d |
T |
A |
3: 123,149,427 (GRCm39) |
N811K |
possibly damaging |
Het |
Sf3b1 |
G |
A |
1: 55,029,666 (GRCm39) |
T1112M |
probably damaging |
Het |
Shisa5 |
T |
A |
9: 108,885,128 (GRCm39) |
C133S |
probably null |
Het |
Slc16a6 |
A |
G |
11: 109,354,193 (GRCm39) |
S59P |
probably benign |
Het |
Slc25a31 |
G |
A |
3: 40,670,975 (GRCm39) |
A89T |
probably damaging |
Het |
Slc6a1 |
G |
T |
6: 114,284,713 (GRCm39) |
R257L |
possibly damaging |
Het |
Sntb1 |
C |
T |
15: 55,612,670 (GRCm39) |
V303M |
probably benign |
Het |
Snx20 |
A |
G |
8: 89,354,439 (GRCm39) |
V97A |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,285,136 (GRCm39) |
N285K |
probably benign |
Het |
Vmn2r98 |
T |
G |
17: 19,290,007 (GRCm39) |
S514R |
probably damaging |
Het |
Zfp28 |
A |
T |
7: 6,392,793 (GRCm39) |
E156D |
probably damaging |
Het |
Zfp39 |
A |
G |
11: 58,793,633 (GRCm39) |
V35A |
probably benign |
Het |
Zfp536 |
A |
C |
7: 37,268,891 (GRCm39) |
I175S |
probably damaging |
Het |
Zic5 |
A |
T |
14: 122,696,969 (GRCm39) |
S549T |
unknown |
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 |
R4193:Ptprn2
|
UTSW |
12 |
116,864,628 (GRCm39) |
missense |
probably benign |
0.01 |
R4523:Ptprn2
|
UTSW |
12 |
116,839,620 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGCCCTTAGACACACTCCTG -3'
(R):5'- TATGGCCTGGTGAGAAGGATTC -3'
Sequencing Primer
(F):5'- TCCTGCAGAGTCTCCTGAAG -3'
(R):5'- GTGGTCTTACTACCTCCCTAGATTC -3'
|
Posted On |
2015-10-21 |