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 |
IA-2 beta, PTP-NP, 4930425H11Rik, IA-2beta, phogrin |
MMRRC Submission |
041957-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R4719 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116788016 bp (GRCm39)
|
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: 69,089,971 (GRCm39) |
Y971C |
probably damaging |
Het |
Actr5 |
T |
A |
2: 158,468,433 (GRCm39) |
S188T |
probably damaging |
Het |
Adamtsl4 |
A |
G |
3: 95,586,896 (GRCm39) |
|
probably null |
Het |
Agbl2 |
A |
G |
2: 90,645,733 (GRCm39) |
N822S |
probably benign |
Het |
Ankdd1b |
T |
A |
13: 96,554,255 (GRCm39) |
|
probably benign |
Het |
Arhgef40 |
C |
T |
14: 52,242,395 (GRCm39) |
|
probably benign |
Het |
Art5 |
A |
G |
7: 101,747,701 (GRCm39) |
|
probably null |
Het |
Atpsckmt |
T |
G |
15: 31,608,243 (GRCm39) |
V98G |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,046,390 (GRCm39) |
|
probably benign |
Het |
Car9 |
G |
A |
4: 43,508,616 (GRCm39) |
W42* |
probably null |
Het |
Cdh20 |
T |
C |
1: 104,862,035 (GRCm39) |
Y72H |
probably damaging |
Het |
Ces1g |
T |
C |
8: 94,043,718 (GRCm39) |
D407G |
possibly damaging |
Het |
Cngb3 |
T |
A |
4: 19,309,562 (GRCm39) |
D73E |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,945,451 (GRCm39) |
F888I |
probably damaging |
Het |
Dgat2 |
T |
C |
7: 98,807,504 (GRCm39) |
D222G |
probably benign |
Het |
Dscaml1 |
T |
C |
9: 45,583,993 (GRCm39) |
M486T |
probably benign |
Het |
Faim2 |
C |
T |
15: 99,425,460 (GRCm39) |
|
probably null |
Het |
Fance |
T |
C |
17: 28,537,293 (GRCm39) |
|
probably benign |
Het |
Fancm |
G |
T |
12: 65,168,480 (GRCm39) |
M1614I |
possibly damaging |
Het |
Fcrl5 |
A |
T |
3: 87,351,496 (GRCm39) |
N248I |
probably damaging |
Het |
Foxo3 |
G |
A |
10: 42,073,774 (GRCm39) |
R29W |
probably damaging |
Het |
Gabbr2 |
A |
G |
4: 46,718,797 (GRCm39) |
Y74H |
probably damaging |
Het |
Gatd1 |
A |
C |
7: 140,990,981 (GRCm39) |
D55E |
probably benign |
Het |
Gpr152 |
C |
A |
19: 4,193,223 (GRCm39) |
Q255K |
possibly damaging |
Het |
Havcr1 |
A |
G |
11: 46,643,268 (GRCm39) |
T63A |
probably benign |
Het |
Hltf |
T |
C |
3: 20,118,865 (GRCm39) |
|
probably null |
Het |
Ifit3b |
A |
T |
19: 34,590,030 (GRCm39) |
Q402L |
probably damaging |
Het |
Ints3 |
A |
G |
3: 90,322,828 (GRCm39) |
L134S |
probably benign |
Het |
Kcna10 |
A |
G |
3: 107,102,217 (GRCm39) |
T283A |
probably benign |
Het |
Kmt2e |
A |
C |
5: 23,697,313 (GRCm39) |
R590S |
probably damaging |
Het |
Lefty1 |
A |
T |
1: 180,765,277 (GRCm39) |
N282Y |
probably benign |
Het |
Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
Lrrn2 |
T |
C |
1: 132,866,915 (GRCm39) |
V660A |
probably benign |
Het |
Lyst |
T |
C |
13: 13,824,935 (GRCm39) |
S1517P |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,881,468 (GRCm39) |
H208R |
probably benign |
Het |
Mdga2 |
C |
T |
12: 66,517,775 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
A |
11: 101,955,259 (GRCm39) |
E122V |
possibly damaging |
Het |
Mrgprb5 |
T |
C |
7: 47,818,526 (GRCm39) |
N70D |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,343,500 (GRCm39) |
E37D |
possibly damaging |
Het |
Nbeal1 |
T |
A |
1: 60,274,722 (GRCm39) |
|
probably null |
Het |
Ncoa6 |
T |
C |
2: 155,233,081 (GRCm39) |
|
probably benign |
Het |
Nfib |
C |
A |
4: 82,422,967 (GRCm39) |
|
probably null |
Het |
Nostrin |
G |
T |
2: 68,975,156 (GRCm39) |
G24* |
probably null |
Het |
Nudc |
A |
G |
4: 133,260,576 (GRCm39) |
Y293H |
probably damaging |
Het |
Or51a42 |
T |
A |
7: 103,707,940 (GRCm39) |
N290Y |
probably damaging |
Het |
Pcmtd1 |
T |
A |
1: 7,225,325 (GRCm39) |
Y41* |
probably null |
Het |
Pigt |
T |
C |
2: 164,343,544 (GRCm39) |
L340P |
probably damaging |
Het |
Pomgnt1 |
T |
C |
4: 116,012,972 (GRCm39) |
Y420H |
probably damaging |
Het |
Pramel6 |
C |
T |
2: 87,341,096 (GRCm39) |
T476I |
probably benign |
Het |
Rasl10a |
G |
A |
11: 5,008,517 (GRCm39) |
S71N |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
Rps4l-ps |
T |
C |
7: 114,526,537 (GRCm39) |
|
noncoding transcript |
Het |
Sash1 |
T |
A |
10: 8,605,477 (GRCm39) |
H971L |
probably benign |
Het |
Secisbp2 |
T |
A |
13: 51,806,768 (GRCm39) |
F54L |
possibly damaging |
Het |
Senp1 |
A |
T |
15: 97,954,731 (GRCm39) |
H484Q |
probably benign |
Het |
Slc12a1 |
T |
C |
2: 124,995,913 (GRCm39) |
I22T |
possibly damaging |
Het |
Slc25a36 |
A |
G |
9: 96,972,172 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
A |
7: 127,140,731 (GRCm39) |
S1443T |
probably benign |
Het |
Sv2c |
T |
C |
13: 96,123,319 (GRCm39) |
T385A |
probably benign |
Het |
Tas2r131 |
T |
A |
6: 132,933,936 (GRCm39) |
H291L |
probably damaging |
Het |
Thbs3 |
A |
G |
3: 89,124,147 (GRCm39) |
D80G |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,908,394 (GRCm39) |
S1349L |
probably damaging |
Het |
Toporsl |
A |
G |
4: 52,611,996 (GRCm39) |
R630G |
probably benign |
Het |
Vmn1r43 |
C |
A |
6: 89,846,837 (GRCm39) |
M216I |
probably benign |
Het |
Wdr17 |
T |
A |
8: 55,092,911 (GRCm39) |
E1068D |
probably benign |
Het |
Wnt10a |
G |
A |
1: 74,842,762 (GRCm39) |
V413I |
probably damaging |
Het |
Zfp141 |
T |
C |
7: 42,126,111 (GRCm39) |
|
probably null |
Het |
Zfp169 |
T |
C |
13: 48,643,634 (GRCm39) |
I498V |
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 |
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 |
R4706:Ptprn2
|
UTSW |
12 |
116,835,714 (GRCm39) |
missense |
probably benign |
0.02 |
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'- CATGGTTTTCTGGAAGAACAGGG -3'
(R):5'- AGTGTCCAAGGCACCACATTTC -3'
Sequencing Primer
(F):5'- CAGGGACCTGTAGGAGTCTG -3'
(R):5'- GGCACCACATTTCAGGGTTAC -3'
|
Posted On |
2015-10-21 |