Incidental Mutation 'R4872:Ptprn2'
ID |
376682 |
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 |
042482-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R4872 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117125314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 616
(L616P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070733
AA Change: L616P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: L616P
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 |
probably damaging
Transcript: ENSMUST00000190247
AA Change: L616P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: L616P
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 |
|
Meta Mutation Damage Score |
0.4237 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
98% (81/83) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
C |
A |
15: 91,075,514 (GRCm39) |
V100L |
probably benign |
Het |
Acad11 |
G |
A |
9: 103,963,465 (GRCm39) |
|
probably benign |
Het |
Actb |
C |
T |
5: 142,891,307 (GRCm39) |
|
probably benign |
Het |
Ano9 |
G |
A |
7: 140,687,117 (GRCm39) |
A374V |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,773,103 (GRCm39) |
|
probably null |
Het |
Bltp3a |
G |
T |
17: 28,109,110 (GRCm39) |
D1110Y |
probably benign |
Het |
Bpifb9b |
T |
A |
2: 154,155,551 (GRCm39) |
L350Q |
probably damaging |
Het |
Cd27 |
T |
A |
6: 125,211,281 (GRCm39) |
|
probably null |
Het |
Cd72 |
A |
G |
4: 43,449,563 (GRCm39) |
|
probably benign |
Het |
Cdadc1 |
A |
T |
14: 59,801,973 (GRCm39) |
S516T |
probably benign |
Het |
Chst5 |
T |
A |
8: 112,617,192 (GRCm39) |
I143F |
possibly damaging |
Het |
Col20a1 |
T |
C |
2: 180,639,156 (GRCm39) |
V452A |
possibly damaging |
Het |
Cox11 |
C |
A |
11: 90,535,229 (GRCm39) |
Q227K |
probably benign |
Het |
Cpa6 |
A |
G |
1: 10,665,843 (GRCm39) |
|
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dpm2 |
T |
C |
2: 32,461,203 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Frem1 |
A |
C |
4: 82,881,387 (GRCm39) |
N1273K |
probably damaging |
Het |
Fry |
T |
C |
5: 150,317,704 (GRCm39) |
|
probably null |
Het |
Gm10306 |
G |
T |
4: 94,445,069 (GRCm39) |
|
probably benign |
Het |
Gm5565 |
T |
C |
5: 146,094,913 (GRCm39) |
T278A |
probably benign |
Het |
Gm8180 |
A |
G |
14: 44,019,802 (GRCm39) |
I40T |
probably benign |
Het |
Iah1 |
T |
C |
12: 21,367,426 (GRCm39) |
V44A |
probably benign |
Het |
Iqgap3 |
C |
T |
3: 88,020,435 (GRCm39) |
P360S |
probably damaging |
Het |
Klhl28 |
T |
A |
12: 65,003,896 (GRCm39) |
I206F |
possibly damaging |
Het |
Krt13 |
A |
G |
11: 100,012,332 (GRCm39) |
|
probably benign |
Het |
Lipo2 |
T |
A |
19: 33,726,914 (GRCm39) |
D41V |
probably benign |
Het |
Lrig2 |
C |
G |
3: 104,398,842 (GRCm39) |
V229L |
possibly damaging |
Het |
Lrrc32 |
C |
T |
7: 98,147,727 (GRCm39) |
T169I |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,014,649 (GRCm39) |
N1053S |
possibly damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mgat4c |
G |
C |
10: 102,224,599 (GRCm39) |
R271P |
probably damaging |
Het |
Mylk |
A |
G |
16: 34,735,360 (GRCm39) |
N780S |
possibly damaging |
Het |
N4bp1 |
T |
C |
8: 87,587,676 (GRCm39) |
T421A |
probably benign |
Het |
Nat8f1 |
T |
C |
6: 85,887,295 (GRCm39) |
T222A |
probably benign |
Het |
Nsun2 |
T |
C |
13: 69,691,992 (GRCm39) |
|
probably benign |
Het |
Oas2 |
T |
A |
5: 120,876,599 (GRCm39) |
D448V |
probably damaging |
Het |
Or10al7 |
C |
A |
17: 38,366,467 (GRCm39) |
V6F |
probably benign |
Het |
Or2l13b |
A |
T |
16: 19,349,383 (GRCm39) |
C96S |
probably damaging |
Het |
Or5ak22 |
T |
C |
2: 85,230,772 (GRCm39) |
Y35C |
probably damaging |
Het |
Pgm2l1 |
T |
A |
7: 99,877,204 (GRCm39) |
L25Q |
probably damaging |
Het |
Pigp |
A |
T |
16: 94,166,309 (GRCm39) |
V133D |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Pomt2 |
C |
T |
12: 87,156,881 (GRCm39) |
D752N |
possibly damaging |
Het |
Ppat |
T |
C |
5: 77,074,640 (GRCm39) |
K65E |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,595,091 (GRCm39) |
S289P |
probably damaging |
Het |
Rbm39 |
G |
A |
2: 156,019,266 (GRCm39) |
R31C |
possibly damaging |
Het |
Rhbdf2 |
C |
A |
11: 116,492,771 (GRCm39) |
V417L |
probably benign |
Het |
Rnf157 |
T |
A |
11: 116,246,298 (GRCm39) |
E255D |
possibly damaging |
Het |
Rpl6l |
A |
T |
10: 110,962,304 (GRCm39) |
|
noncoding transcript |
Het |
Sec24c |
A |
G |
14: 20,743,813 (GRCm39) |
D1006G |
probably damaging |
Het |
Sh3bp1 |
G |
T |
15: 78,792,237 (GRCm39) |
A401S |
probably benign |
Het |
Slc17a8 |
A |
T |
10: 89,412,367 (GRCm39) |
D539E |
probably benign |
Het |
Slc38a9 |
T |
A |
13: 112,826,098 (GRCm39) |
S136R |
probably damaging |
Het |
Smoc2 |
A |
C |
17: 14,589,295 (GRCm39) |
T255P |
probably benign |
Het |
Smyd2 |
T |
C |
1: 189,628,847 (GRCm39) |
D152G |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,862,350 (GRCm39) |
V2328A |
probably damaging |
Het |
Taar2 |
A |
G |
10: 23,816,591 (GRCm39) |
I44V |
probably benign |
Het |
Tbc1d4 |
T |
C |
14: 101,682,144 (GRCm39) |
K1251E |
probably benign |
Het |
Thada |
G |
A |
17: 84,754,027 (GRCm39) |
L315F |
probably damaging |
Het |
Trbv14 |
T |
C |
6: 41,112,259 (GRCm39) |
S19P |
probably benign |
Het |
Ttc39c |
T |
C |
18: 12,820,173 (GRCm39) |
|
probably benign |
Het |
Ttc39d |
A |
G |
17: 80,524,527 (GRCm39) |
I395M |
probably benign |
Het |
Ttn |
T |
C |
2: 76,548,728 (GRCm39) |
E31891G |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,800,527 (GRCm39) |
V950A |
probably damaging |
Het |
Usp9y |
T |
A |
Y: 1,307,920 (GRCm39) |
K2305N |
probably damaging |
Het |
Vmn1r158 |
G |
A |
7: 22,490,179 (GRCm39) |
T10I |
possibly damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r78 |
T |
A |
7: 86,603,916 (GRCm39) |
I698K |
possibly damaging |
Het |
Vmn2r86 |
G |
T |
10: 130,289,460 (GRCm39) |
T145K |
probably damaging |
Het |
Zfp51 |
T |
C |
17: 21,684,933 (GRCm39) |
V516A |
probably benign |
Het |
Zfp654 |
A |
T |
16: 64,606,145 (GRCm39) |
S686T |
probably benign |
Het |
Zfp846 |
T |
A |
9: 20,502,111 (GRCm39) |
C55S |
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 |
R4719:Ptprn2
|
UTSW |
12 |
116,788,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4726:Ptprn2
|
UTSW |
12 |
117,211,393 (GRCm39) |
nonsense |
probably null |
|
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'- AGGCTGCACTAAGTCTGGAG -3'
(R):5'- GTACTGTGACTTCATGAGGGAG -3'
Sequencing Primer
(F):5'- CACTAAGTCTGGAGGGGGTG -3'
(R):5'- ACTGTGACTTCATGAGGGAGTATAG -3'
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Posted On |
2016-03-17 |