Incidental Mutation 'R4816:Ptpn14'
ID 369762
Institutional Source Beutler Lab
Gene Symbol Ptpn14
Ensembl Gene ENSMUSG00000026604
Gene Name protein tyrosine phosphatase, non-receptor type 14
Synonyms C130080N23Rik, OTTMUSG00000022087, PTP36
MMRRC Submission 042434-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4816 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 189460465-189608892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 189588997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 954 (L954P)
Ref Sequence ENSEMBL: ENSMUSP00000095051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027898] [ENSMUST00000097442]
AlphaFold Q62130
Predicted Effect probably damaging
Transcript: ENSMUST00000027898
AA Change: L614P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: L614P

DomainStartEndE-ValueType
B41 17 220 3.7e-67 SMART
FERM_C 224 310 3.43e-15 SMART
low complexity region 565 575 N/A INTRINSIC
low complexity region 633 639 N/A INTRINSIC
low complexity region 710 718 N/A INTRINSIC
low complexity region 745 758 N/A INTRINSIC
low complexity region 817 834 N/A INTRINSIC
PTPc 910 1184 2.14e-103 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097442
AA Change: L954P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: L954P

DomainStartEndE-ValueType
B41 17 220 3.7e-67 SMART
FERM_C 224 310 3.43e-15 SMART
low complexity region 565 575 N/A INTRINSIC
low complexity region 633 639 N/A INTRINSIC
low complexity region 710 718 N/A INTRINSIC
low complexity region 745 758 N/A INTRINSIC
low complexity region 817 834 N/A INTRINSIC
PTPc 910 1184 2.14e-103 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195038
Meta Mutation Damage Score 0.9112 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (113/116)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C A 7: 45,754,131 (GRCm39) A1562S probably benign Het
Adam30 C A 3: 98,070,061 (GRCm39) D631E possibly damaging Het
Adgrv1 T C 13: 81,676,793 (GRCm39) T2013A probably damaging Het
Ark2n A T 18: 77,740,995 (GRCm39) probably null Het
Baiap3 T A 17: 25,466,269 (GRCm39) probably benign Het
Bicra T C 7: 15,722,831 (GRCm39) T229A possibly damaging Het
C1qbp A G 11: 70,873,190 (GRCm39) probably benign Het
C2cd3 C A 7: 100,040,226 (GRCm39) T265K probably benign Het
Cacna1s T A 1: 136,043,007 (GRCm39) I1331K possibly damaging Het
Cdadc1 AGACGGA AGA 14: 59,806,440 (GRCm39) probably null Het
Cdcp2 A G 4: 106,963,969 (GRCm39) Y273C probably damaging Het
Cdh23 A C 10: 60,244,856 (GRCm39) V1013G possibly damaging Het
Celf3 T A 3: 94,386,529 (GRCm39) I39N probably damaging Het
Cep152 A C 2: 125,405,674 (GRCm39) S1619R probably damaging Het
Cfap36 A G 11: 29,195,108 (GRCm39) I42T probably damaging Het
Cfap61 G T 2: 145,985,020 (GRCm39) V955L probably damaging Het
Cit G A 5: 116,046,750 (GRCm39) D388N probably damaging Het
Clca3a2 T C 3: 144,516,613 (GRCm39) M328V probably benign Het
Cntn4 A T 6: 106,527,458 (GRCm39) I447L probably benign Het
Csmd3 T C 15: 47,721,330 (GRCm39) T1538A possibly damaging Het
Cstf1 A G 2: 172,214,905 (GRCm39) K9E probably damaging Het
Dip2c T A 13: 9,625,186 (GRCm39) M560K probably benign Het
Dsg1a A T 18: 20,466,779 (GRCm39) T550S probably benign Het
Dtnb A G 12: 3,799,505 (GRCm39) E460G probably damaging Het
Dus1l GAGGTAAG GAG 11: 120,680,584 (GRCm39) probably benign Het
Efl1 T A 7: 82,320,927 (GRCm39) V120E probably damaging Het
Fbxl13 T C 5: 21,689,001 (GRCm39) Y769C probably benign Het
Fcho2 T C 13: 98,942,874 (GRCm39) Y22C probably damaging Het
Flacc1 G A 1: 58,709,567 (GRCm39) A196V probably benign Het
Gbp3 T C 3: 142,273,335 (GRCm39) V294A probably damaging Het
Gls A G 1: 52,239,104 (GRCm39) probably benign Het
Gm15130 A T 2: 110,965,714 (GRCm39) probably benign Het
Gm6185 A T 1: 161,040,728 (GRCm39) noncoding transcript Het
Gpr171 T A 3: 59,005,517 (GRCm39) H86L probably damaging Het
Gpr179 T C 11: 97,230,074 (GRCm39) T694A probably damaging Het
H2-Aa A T 17: 34,502,794 (GRCm39) V124E probably damaging Het
H2bc13 A G 13: 21,900,135 (GRCm39) M60T probably benign Het
H2-M5 A G 17: 37,300,309 (GRCm39) probably benign Het
Igf2r A T 17: 12,902,984 (GRCm39) N2355K probably damaging Het
Il9r A C 11: 32,142,654 (GRCm39) S295A possibly damaging Het
Ipo9 T C 1: 135,334,288 (GRCm39) T313A probably benign Het
Kalrn C T 16: 34,334,389 (GRCm39) probably benign Het
Lama3 G A 18: 12,610,661 (GRCm39) V1175M possibly damaging Het
Lhpp T A 7: 132,272,104 (GRCm39) C242* probably null Het
Lipe A G 7: 25,079,568 (GRCm39) S1013P probably damaging Het
Lrrc25 C T 8: 71,070,726 (GRCm39) T169I probably benign Het
Lrrc39 T C 3: 116,362,515 (GRCm39) probably null Het
Lrrd1 T A 5: 3,901,126 (GRCm39) L477* probably null Het
Lrriq4 A G 3: 30,714,196 (GRCm39) I515V possibly damaging Het
Magel2 A G 7: 62,030,840 (GRCm39) Y1248C unknown Het
Maml1 G T 11: 50,149,162 (GRCm39) N859K possibly damaging Het
Mdm1 A T 10: 117,982,782 (GRCm39) H139L possibly damaging Het
Mef2d C T 3: 88,075,397 (GRCm39) P420S possibly damaging Het
Mgat4b A G 11: 50,101,848 (GRCm39) K38E probably benign Het
Mtmr4 T C 11: 87,494,923 (GRCm39) V405A probably damaging Het
Naip5 G A 13: 100,356,195 (GRCm39) T1140M probably benign Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G A 13: 100,356,189 (GRCm39) S1142F probably benign Het
Nfe2l3 T C 6: 51,433,604 (GRCm39) S239P probably damaging Het
Nlrp3 A G 11: 59,439,127 (GRCm39) I235V probably benign Het
Nyap2 T A 1: 81,219,028 (GRCm39) L318Q probably damaging Het
Nynrin G A 14: 56,109,458 (GRCm39) V1522M probably damaging Het
Oog3 A G 4: 143,885,731 (GRCm39) L289P probably damaging Het
Or52n20 C T 7: 104,319,942 (GRCm39) P11L probably benign Het
Or5b107 A G 19: 13,142,488 (GRCm39) I37V probably benign Het
Or6c69b T C 10: 129,627,308 (GRCm39) D50G probably damaging Het
Or8b12b T A 9: 37,684,726 (GRCm39) M257K possibly damaging Het
Or9g20 A T 2: 85,630,391 (GRCm39) N74K probably benign Het
Pax6 T C 2: 105,514,129 (GRCm39) probably benign Het
Pbrm1 G A 14: 30,832,405 (GRCm39) R1441K probably benign Het
Pcdha9 C T 18: 37,132,511 (GRCm39) R527W probably damaging Het
Pcdhb17 T C 18: 37,620,450 (GRCm39) S747P probably benign Het
Pcnx3 A C 19: 5,738,023 (GRCm39) probably null Het
Pds5a A T 5: 65,808,632 (GRCm39) V413E probably damaging Het
Phpt1 G T 2: 25,464,332 (GRCm39) probably benign Het
Phykpl A G 11: 51,483,780 (GRCm39) E220G probably benign Het
Pias2 T C 18: 77,193,587 (GRCm39) probably null Het
Pkhd1 T A 1: 20,269,639 (GRCm39) I3302L probably damaging Het
Poli A G 18: 70,655,822 (GRCm39) L241P probably damaging Het
Ppm1h T A 10: 122,515,284 (GRCm39) I65N possibly damaging Het
Pxk T G 14: 8,136,893 (GRCm38) M138R probably damaging Het
Rasl11b G T 5: 74,359,058 (GRCm39) D188Y probably damaging Het
Rtraf A G 14: 19,872,644 (GRCm39) F59S probably benign Het
Sanbr A C 11: 23,565,243 (GRCm39) I248S possibly damaging Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Setdb2 G A 14: 59,651,095 (GRCm39) T412I probably benign Het
Shank2 C A 7: 143,606,043 (GRCm39) N75K probably damaging Het
Shank3 T A 15: 89,427,318 (GRCm39) I791N probably damaging Het
Slc25a13 T A 6: 6,114,274 (GRCm39) M213L possibly damaging Het
Slc25a21 T C 12: 56,760,623 (GRCm39) Y298C probably damaging Het
Slc34a2 A G 5: 53,226,362 (GRCm39) N495S probably damaging Het
Smc2 A G 4: 52,451,231 (GRCm39) T292A probably benign Het
Spag9 T C 11: 93,939,425 (GRCm39) probably benign Het
Tas2r113 C T 6: 132,870,745 (GRCm39) P258S probably benign Het
Tbkbp1 T C 11: 97,029,567 (GRCm39) S530G probably benign Het
Tenm2 A G 11: 35,918,117 (GRCm39) V1881A probably damaging Het
Tm9sf1 C T 14: 55,878,606 (GRCm39) R262Q possibly damaging Het
Tmcc3 G T 10: 94,414,646 (GRCm39) G147V possibly damaging Het
Trim38 A T 13: 23,972,264 (GRCm39) E195V probably damaging Het
Try5 T C 6: 41,290,349 (GRCm39) Y45C probably benign Het
Umad1 A C 6: 8,457,462 (GRCm39) probably benign Het
Vmn2r105 T C 17: 20,428,953 (GRCm39) I708V probably benign Het
Zc3h12d A T 10: 7,743,711 (GRCm39) S494C probably damaging Het
Zeb2 A G 2: 44,887,780 (GRCm39) S382P probably damaging Het
Zfc3h1 A G 10: 115,251,599 (GRCm39) S1304G probably benign Het
Zfp287 G T 11: 62,605,074 (GRCm39) T611K probably damaging Het
Zfp534 G A 4: 147,758,743 (GRCm39) T642I possibly damaging Het
Other mutations in Ptpn14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Ptpn14 APN 1 189,554,830 (GRCm39) missense probably damaging 1.00
IGL02501:Ptpn14 APN 1 189,582,587 (GRCm39) missense probably benign 0.14
IGL03011:Ptpn14 APN 1 189,571,754 (GRCm39) missense probably damaging 1.00
jelly UTSW 1 189,554,872 (GRCm39) nonsense probably null
Rubens UTSW 1 189,564,997 (GRCm39) critical splice donor site probably null
R0724:Ptpn14 UTSW 1 189,583,144 (GRCm39) missense possibly damaging 0.52
R0791:Ptpn14 UTSW 1 189,568,637 (GRCm39) splice site probably benign
R1363:Ptpn14 UTSW 1 189,530,825 (GRCm39) missense probably damaging 1.00
R1605:Ptpn14 UTSW 1 189,597,709 (GRCm39) missense probably benign 0.00
R1840:Ptpn14 UTSW 1 189,519,048 (GRCm39) missense probably damaging 1.00
R1845:Ptpn14 UTSW 1 189,571,699 (GRCm39) missense possibly damaging 0.96
R1891:Ptpn14 UTSW 1 189,530,850 (GRCm39) missense probably damaging 1.00
R2187:Ptpn14 UTSW 1 189,595,425 (GRCm39) nonsense probably null
R2288:Ptpn14 UTSW 1 189,597,695 (GRCm39) missense probably damaging 1.00
R3686:Ptpn14 UTSW 1 189,583,596 (GRCm39) missense probably damaging 1.00
R3895:Ptpn14 UTSW 1 189,582,743 (GRCm39) missense probably benign 0.31
R3898:Ptpn14 UTSW 1 189,582,728 (GRCm39) missense probably benign 0.35
R4004:Ptpn14 UTSW 1 189,582,707 (GRCm39) missense probably benign 0.00
R4883:Ptpn14 UTSW 1 189,582,997 (GRCm39) missense probably damaging 0.99
R4928:Ptpn14 UTSW 1 189,554,839 (GRCm39) missense probably damaging 1.00
R4931:Ptpn14 UTSW 1 189,583,474 (GRCm39) missense probably benign
R4957:Ptpn14 UTSW 1 189,583,469 (GRCm39) missense probably benign 0.02
R5009:Ptpn14 UTSW 1 189,582,731 (GRCm39) missense probably benign
R5038:Ptpn14 UTSW 1 189,519,083 (GRCm39) missense probably damaging 1.00
R5264:Ptpn14 UTSW 1 189,564,997 (GRCm39) critical splice donor site probably null
R5373:Ptpn14 UTSW 1 189,583,160 (GRCm39) missense probably benign
R5441:Ptpn14 UTSW 1 189,530,767 (GRCm39) missense probably damaging 1.00
R5540:Ptpn14 UTSW 1 189,578,561 (GRCm39) missense probably benign 0.05
R5638:Ptpn14 UTSW 1 189,519,038 (GRCm39) missense probably damaging 1.00
R5746:Ptpn14 UTSW 1 189,578,610 (GRCm39) critical splice donor site probably null
R5872:Ptpn14 UTSW 1 189,583,229 (GRCm39) missense probably benign 0.00
R5988:Ptpn14 UTSW 1 189,582,584 (GRCm39) missense probably damaging 1.00
R6139:Ptpn14 UTSW 1 189,583,362 (GRCm39) missense probably benign 0.01
R6295:Ptpn14 UTSW 1 189,582,997 (GRCm39) missense probably damaging 0.99
R6770:Ptpn14 UTSW 1 189,564,970 (GRCm39) missense probably damaging 1.00
R7097:Ptpn14 UTSW 1 189,595,595 (GRCm39) nonsense probably null
R7320:Ptpn14 UTSW 1 189,564,956 (GRCm39) missense probably benign 0.11
R7324:Ptpn14 UTSW 1 189,595,621 (GRCm39) missense possibly damaging 0.46
R7599:Ptpn14 UTSW 1 189,582,942 (GRCm39) missense probably benign 0.39
R7699:Ptpn14 UTSW 1 189,597,608 (GRCm39) missense probably benign 0.08
R7700:Ptpn14 UTSW 1 189,597,608 (GRCm39) missense probably benign 0.08
R8379:Ptpn14 UTSW 1 189,565,598 (GRCm39) missense possibly damaging 0.95
R8889:Ptpn14 UTSW 1 189,554,872 (GRCm39) nonsense probably null
R9659:Ptpn14 UTSW 1 189,587,174 (GRCm39) missense probably benign 0.00
R9719:Ptpn14 UTSW 1 189,583,484 (GRCm39) missense probably benign 0.00
Z1177:Ptpn14 UTSW 1 189,592,667 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGACAGCTGATGCCTCCTTC -3'
(R):5'- AGGTAGGGACTGTTCCAACGTC -3'

Sequencing Primer
(F):5'- TCCCTTGCAGCTCAGAGC -3'
(R):5'- CTGTGAGGCACAAACCAACGG -3'
Posted On 2016-02-04