Incidental Mutation 'R5441:Ptpn14'
ID 427158
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 043006-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5441 (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 189530767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 78 (L78P)
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: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: L78P

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: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: L78P

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: ENSMUST00000194127
Meta Mutation Damage Score 0.6666 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,334,215 (GRCm39) Y1096H probably damaging Het
Aspa A T 11: 73,196,420 (GRCm39) F261I probably damaging Het
Atm C A 9: 53,427,767 (GRCm39) G448* probably null Het
Atmin T A 8: 117,684,696 (GRCm39) D785E probably damaging Het
Car1 G C 3: 14,841,364 (GRCm39) R90G probably damaging Het
Cdh11 T C 8: 103,374,178 (GRCm39) D520G probably benign Het
Cers5 T A 15: 99,649,119 (GRCm39) K50* probably null Het
Chad A T 11: 94,459,118 (GRCm39) D340V probably benign Het
Cspg5 T C 9: 110,075,711 (GRCm39) I68T probably benign Het
Fcgbpl1 C T 7: 27,856,339 (GRCm39) T2042M probably damaging Het
Fcrla T A 1: 170,752,991 (GRCm39) probably benign Het
Fer1l4 T A 2: 155,865,177 (GRCm39) D1608V probably benign Het
Fzd5 T A 1: 64,774,576 (GRCm39) Q395L probably benign Het
Gm7664 T A 13: 62,676,464 (GRCm39) probably benign Het
Hk3 T C 13: 55,162,869 (GRCm39) E2G probably damaging Het
Hmcn2 G A 2: 31,296,428 (GRCm39) E2677K possibly damaging Het
Hydin T C 8: 111,291,741 (GRCm39) L3411P possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Lysmd2 C T 9: 75,533,254 (GRCm39) H70Y possibly damaging Het
Msi2 A G 11: 88,370,818 (GRCm39) probably benign Het
Msi2 G A 11: 88,608,921 (GRCm39) probably benign Het
Napsa T A 7: 44,230,817 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,153,578 (GRCm39) L710M probably damaging Het
Or10g1 T A 14: 52,647,414 (GRCm39) K305M probably benign Het
Or12d13 T C 17: 37,647,159 (GRCm39) probably null Het
Or5m13 T A 2: 85,748,934 (GRCm39) F222I probably benign Het
Or6ae1 T C 7: 139,742,564 (GRCm39) T100A probably benign Het
Or9a2 C T 6: 41,748,782 (GRCm39) M150I probably benign Het
Plbd2 T A 5: 120,637,147 (GRCm39) Y105F probably benign Het
Plppr5 A T 3: 117,456,120 (GRCm39) I214F possibly damaging Het
Pramel34 A T 5: 93,784,456 (GRCm39) M139K possibly damaging Het
Ptcd3 A G 6: 71,858,505 (GRCm39) V655A possibly damaging Het
Ralgapa1 A C 12: 55,766,408 (GRCm39) D1295E probably damaging Het
Rnf213 G A 11: 119,299,846 (GRCm39) D192N probably damaging Het
Ropn1 A G 16: 34,487,167 (GRCm39) I34M probably damaging Het
Rpe65 G T 3: 159,310,038 (GRCm39) G104C probably damaging Het
Scgb2b27 T C 7: 33,712,582 (GRCm39) probably benign Het
Sh3bgr T C 16: 96,007,117 (GRCm39) I29T possibly damaging Het
Smg1 T C 7: 117,794,304 (GRCm39) probably benign Het
Stim2 T A 5: 54,232,712 (GRCm39) C68* probably null Het
Syne2 G A 12: 76,035,917 (GRCm39) V3736I possibly damaging Het
Tbx19 T C 1: 164,981,249 (GRCm39) N82D probably damaging Het
Tdp1 T A 12: 99,876,544 (GRCm39) V353D probably damaging Het
Tg T A 15: 66,568,369 (GRCm39) I1352K possibly damaging Het
Thsd4 T C 9: 59,887,066 (GRCm39) T919A probably damaging Het
Tmprss11f A T 5: 86,676,062 (GRCm39) M373K probably damaging Het
Tmprss15 T A 16: 78,868,335 (GRCm39) probably null Het
Tpd52 A T 3: 9,068,466 (GRCm39) Y16* probably null Het
Ube2o G A 11: 116,435,268 (GRCm39) R507C probably damaging Het
Unc93b1 T C 19: 3,993,703 (GRCm39) F382L probably benign Het
Vav2 A T 2: 27,160,122 (GRCm39) probably benign Het
Vmn1r207 T C 13: 22,910,686 (GRCm39) noncoding transcript Het
Zan T A 5: 137,435,013 (GRCm39) I2127F unknown Het
Zfp748 C A 13: 67,688,737 (GRCm39) C841F probably damaging Het
Zic4 C A 9: 91,266,253 (GRCm39) P299Q probably 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
R4816:Ptpn14 UTSW 1 189,588,997 (GRCm39) missense probably damaging 1.00
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
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'- AATACCGCTTCTGTAGGTGG -3'
(R):5'- AGCCTCCTGGTTATCCACAC -3'

Sequencing Primer
(F):5'- AGAGAAGACGCTGGCTCTCTG -3'
(R):5'- TGGTTATCCACACCCTTATGG -3'
Posted On 2016-09-01