Incidental Mutation 'R4719:Ptprn2'
| ID |
354319 |
| 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 |
041957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R4719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116485720-117276849 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116824396 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 118
(H118Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
| AlphaFold |
P80560 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070733
AA Change: H118Q
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: H118Q
| 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 |
possibly damaging
Transcript: ENSMUST00000190247
AA Change: H118Q
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: H118Q
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191106
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
99% (76/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,259,627 (GRCm38) |
Y971C |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,626,513 (GRCm38) |
S188T |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,679,586 (GRCm38) |
|
probably null |
Het |
| Agbl2 |
A |
G |
2: 90,815,389 (GRCm38) |
N822S |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,417,747 (GRCm38) |
|
probably benign |
Het |
| Arhgef40 |
C |
T |
14: 52,004,938 (GRCm38) |
|
probably benign |
Het |
| Art5 |
A |
G |
7: 102,098,494 (GRCm38) |
|
probably null |
Het |
| Cacna1s |
T |
C |
1: 136,118,652 (GRCm38) |
|
probably benign |
Het |
| Car9 |
G |
A |
4: 43,508,616 (GRCm38) |
W42* |
probably null |
Het |
| Cdh20 |
T |
C |
1: 104,934,310 (GRCm38) |
Y72H |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 93,317,090 (GRCm38) |
D407G |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,309,562 (GRCm38) |
D73E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 106,068,252 (GRCm38) |
F888I |
probably damaging |
Het |
| Dgat2 |
T |
C |
7: 99,158,297 (GRCm38) |
D222G |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,672,695 (GRCm38) |
M486T |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,527,579 (GRCm38) |
|
probably null |
Het |
| Fam173b |
T |
G |
15: 31,608,097 (GRCm38) |
V98G |
probably damaging |
Het |
| Fance |
T |
C |
17: 28,318,319 (GRCm38) |
|
probably benign |
Het |
| Fancm |
G |
T |
12: 65,121,706 (GRCm38) |
M1614I |
possibly damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,444,189 (GRCm38) |
N248I |
probably damaging |
Het |
| Foxo3 |
G |
A |
10: 42,197,778 (GRCm38) |
R29W |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,718,797 (GRCm38) |
Y74H |
probably damaging |
Het |
| Gatd1 |
A |
C |
7: 141,411,068 (GRCm38) |
D55E |
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,143,224 (GRCm38) |
Q255K |
possibly damaging |
Het |
| Havcr1 |
A |
G |
11: 46,752,441 (GRCm38) |
T63A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,064,701 (GRCm38) |
|
probably null |
Het |
| Ifit3b |
A |
T |
19: 34,612,630 (GRCm38) |
Q402L |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,415,521 (GRCm38) |
L134S |
probably benign |
Het |
| Kcna10 |
A |
G |
3: 107,194,901 (GRCm38) |
T283A |
probably benign |
Het |
| Kmt2e |
A |
C |
5: 23,492,315 (GRCm38) |
R590S |
probably damaging |
Het |
| Lefty1 |
A |
T |
1: 180,937,712 (GRCm38) |
N282Y |
probably benign |
Het |
| Loxl4 |
T |
A |
19: 42,607,591 (GRCm38) |
Y141F |
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,939,177 (GRCm38) |
V660A |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,650,350 (GRCm38) |
S1517P |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 146,175,713 (GRCm38) |
H208R |
probably benign |
Het |
| Mdga2 |
C |
T |
12: 66,471,001 (GRCm38) |
|
probably benign |
Het |
| Mpp2 |
T |
A |
11: 102,064,433 (GRCm38) |
E122V |
possibly damaging |
Het |
| Mrgprb5 |
T |
C |
7: 48,168,778 (GRCm38) |
N70D |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,789,763 (GRCm38) |
E37D |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,235,563 (GRCm38) |
|
probably null |
Het |
| Ncoa6 |
T |
C |
2: 155,391,161 (GRCm38) |
|
probably benign |
Het |
| Nfib |
C |
A |
4: 82,504,730 (GRCm38) |
|
probably null |
Het |
| Nostrin |
G |
T |
2: 69,144,812 (GRCm38) |
G24* |
probably null |
Het |
| Nudc |
A |
G |
4: 133,533,265 (GRCm38) |
Y293H |
probably damaging |
Het |
| Olfr643 |
T |
A |
7: 104,058,733 (GRCm38) |
N290Y |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,155,101 (GRCm38) |
Y41* |
probably null |
Het |
| Pigt |
T |
C |
2: 164,501,624 (GRCm38) |
L340P |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,155,775 (GRCm38) |
Y420H |
probably damaging |
Het |
| Pramel6 |
C |
T |
2: 87,510,752 (GRCm38) |
T476I |
probably benign |
Het |
| Rasl10a |
G |
A |
11: 5,058,517 (GRCm38) |
S71N |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,420,067 (GRCm38) |
I804V |
probably benign |
Het |
| Rps4l-ps |
T |
C |
7: 114,927,302 (GRCm38) |
|
noncoding transcript |
Het |
| Sash1 |
T |
A |
10: 8,729,713 (GRCm38) |
H971L |
probably benign |
Het |
| Secisbp2 |
T |
A |
13: 51,652,732 (GRCm38) |
F54L |
possibly damaging |
Het |
| Senp1 |
A |
T |
15: 98,056,850 (GRCm38) |
H484Q |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 125,153,993 (GRCm38) |
I22T |
possibly damaging |
Het |
| Slc25a36 |
A |
G |
9: 97,090,119 (GRCm38) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,541,559 (GRCm38) |
S1443T |
probably benign |
Het |
| Sv2c |
T |
C |
13: 95,986,811 (GRCm38) |
T385A |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,956,973 (GRCm38) |
H291L |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,216,840 (GRCm38) |
D80G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,689,420 (GRCm38) |
S1349L |
probably damaging |
Het |
| Toporsl |
A |
G |
4: 52,611,996 (GRCm38) |
R630G |
probably benign |
Het |
| Vmn1r43 |
C |
A |
6: 89,869,855 (GRCm38) |
M216I |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 54,639,876 (GRCm38) |
E1068D |
probably benign |
Het |
| Wnt10a |
G |
A |
1: 74,803,603 (GRCm38) |
V413I |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,476,687 (GRCm38) |
|
probably null |
Het |
| Zfp169 |
T |
C |
13: 48,490,158 (GRCm38) |
I498V |
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 |
|
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 |
|
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'- CATGGTTTTCTGGAAGAACAGGG -3'
(R):5'- AGTGTCCAAGGCACCACATTTC -3'
Sequencing Primer
(F):5'- CAGGGACCTGTAGGAGTCTG -3'
(R):5'- GGCACCACATTTCAGGGTTAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation