Incidental Mutation 'R5540:Ptpn14'
ID 435856
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 043098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 189460465-189608892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 189578561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 340 (M340L)
Ref Sequence ENSEMBL: ENSMUSP00000027898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027898] [ENSMUST00000097442]
AlphaFold Q62130
Predicted Effect probably benign
Transcript: ENSMUST00000027898
AA Change: M340L

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: M340L

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 benign
Transcript: ENSMUST00000097442
AA Change: M340L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: M340L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,012,371 (GRCm39) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm39) H305L probably benign Het
Adam26b C A 8: 43,974,654 (GRCm39) C116F probably damaging Het
Adgrl2 A G 3: 148,543,198 (GRCm39) probably null Het
Akr1b10 A G 6: 34,371,047 (GRCm39) T238A probably damaging Het
Akr1c18 A G 13: 4,187,178 (GRCm39) V186A probably benign Het
Alpk3 G A 7: 80,745,184 (GRCm39) V1311M probably damaging Het
Aox1 A G 1: 58,143,569 (GRCm39) N1229S probably benign Het
Apobec3 T A 15: 79,782,120 (GRCm39) N43K probably benign Het
Arid1a A C 4: 133,407,765 (GRCm39) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm39) L77S probably damaging Het
Cd300ld T A 11: 114,878,231 (GRCm39) T94S probably damaging Het
Celf2 T C 2: 6,558,743 (GRCm39) T382A probably benign Het
Cfap54 C T 10: 92,808,470 (GRCm39) A1402T possibly damaging Het
Chrnb1 A T 11: 69,686,476 (GRCm39) V48E probably benign Het
Col6a5 T A 9: 105,739,975 (GRCm39) E2548V probably benign Het
Crebrf A G 17: 26,961,071 (GRCm39) D56G possibly damaging Het
Dctn5 A G 7: 121,734,275 (GRCm39) T40A probably benign Het
Dmxl2 A T 9: 54,301,141 (GRCm39) N2323K probably benign Het
Dync1h1 A G 12: 110,627,384 (GRCm39) Q4021R probably benign Het
Dyrk1a T G 16: 94,486,202 (GRCm39) probably null Het
Ephb3 T A 16: 21,039,610 (GRCm39) F454Y probably damaging Het
Fbxo38 A G 18: 62,647,864 (GRCm39) probably null Het
Flg T C 3: 93,184,923 (GRCm39) F15S probably damaging Het
Fndc3b G A 3: 27,555,651 (GRCm39) P301L probably damaging Het
Fpr-rs7 C T 17: 20,334,356 (GRCm39) G45R probably damaging Het
Garin3 A G 11: 46,295,715 (GRCm39) N29S probably damaging Het
Gfi1 T A 5: 107,867,991 (GRCm39) T360S probably damaging Het
Grik4 T C 9: 42,432,243 (GRCm39) H918R probably damaging Het
Hpx A G 7: 105,241,119 (GRCm39) S385P possibly damaging Het
Kdm5b A G 1: 134,558,979 (GRCm39) D1501G probably damaging Het
Kif20b A T 19: 34,915,860 (GRCm39) M546L probably benign Het
Map3k9 G T 12: 81,819,587 (GRCm39) N222K probably damaging Het
Me1 A G 9: 86,561,926 (GRCm39) L53P possibly damaging Het
Mis18bp1 T C 12: 65,195,520 (GRCm39) E748G possibly damaging Het
Morc3 T A 16: 93,644,268 (GRCm39) N186K probably benign Het
Mtor A G 4: 148,539,165 (GRCm39) T221A probably benign Het
Muc6 A G 7: 141,235,850 (GRCm39) probably null Het
Myh8 C A 11: 67,177,266 (GRCm39) T444N probably benign Het
Myo7b A G 18: 32,140,143 (GRCm39) Y216H probably damaging Het
Myom1 G A 17: 71,416,782 (GRCm39) V1382M probably damaging Het
Nbeal2 A T 9: 110,460,801 (GRCm39) Y1718N probably damaging Het
Npc1l1 A G 11: 6,164,546 (GRCm39) S1168P probably damaging Het
Or4c58 A G 2: 89,675,011 (GRCm39) F102S probably damaging Het
Or4d2 T A 11: 87,784,511 (GRCm39) K80* probably null Het
Or51f5 C T 7: 102,424,136 (GRCm39) A135V probably benign Het
Or5an9 T A 19: 12,187,824 (GRCm39) I298N probably damaging Het
Or6c8b G T 10: 128,882,364 (GRCm39) D189E probably damaging Het
Pcdha4 C A 18: 37,087,890 (GRCm39) A691E probably benign Het
Pde6a T G 18: 61,364,438 (GRCm39) F165V probably damaging Het
Rnasel G T 1: 153,630,890 (GRCm39) E469* probably null Het
Rsph3a T G 17: 8,164,790 (GRCm39) L50R probably benign Het
Rusc2 A G 4: 43,423,975 (GRCm39) Y1043C probably damaging Het
Serpinb6b A T 13: 33,161,541 (GRCm39) K86* probably null Het
Serpine1 T C 5: 137,092,063 (GRCm39) T392A probably benign Het
Shcbp1 A T 8: 4,794,529 (GRCm39) D421E probably damaging Het
Slc24a1 A G 9: 64,855,863 (GRCm39) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm39) F605L probably benign Het
Slc66a1 A T 4: 139,027,655 (GRCm39) L229Q probably damaging Het
Spag17 A C 3: 99,963,588 (GRCm39) E1102A possibly damaging Het
Stab2 A G 10: 86,683,989 (GRCm39) V2390A probably benign Het
Stk11 A G 10: 79,961,883 (GRCm39) I35V probably benign Het
Stk24 T C 14: 121,531,693 (GRCm39) D321G possibly damaging Het
Tbx4 A T 11: 85,801,994 (GRCm39) N209I possibly damaging Het
Tmem225 T C 9: 40,060,681 (GRCm39) L80P probably damaging Het
Tnfrsf4 C T 4: 156,098,380 (GRCm39) T17I probably benign Het
Traf3ip1 G A 1: 91,429,037 (GRCm39) R268Q probably benign Het
Trhde T A 10: 114,636,497 (GRCm39) I237F probably benign Het
Ugt2a1 A T 5: 87,633,915 (GRCm39) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,726,831 (GRCm39) probably benign Het
Vps16 T A 2: 130,284,305 (GRCm39) D685E probably benign Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Wdr59 A G 8: 112,211,816 (GRCm39) L377P possibly damaging Het
Wdr81 T C 11: 75,339,896 (GRCm39) E1364G 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
R5441:Ptpn14 UTSW 1 189,530,767 (GRCm39) missense probably damaging 1.00
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'- TCTCTATGGCCTTGAGCTGC -3'
(R):5'- TGTAGCCACCATTATCAGACAATG -3'

Sequencing Primer
(F):5'- GTCCTGAGCTTCAATACCAGATGG -3'
(R):5'- TCAGACAATGACAATGTTGCC -3'
Posted On 2016-10-24