Incidental Mutation 'R8379:Ptpn14'
ID 646838
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 067810-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8379 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 189460465-189608892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 189565598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 222 (V222E)
Ref Sequence ENSEMBL: ENSMUSP00000027898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027898] [ENSMUST00000097442]
AlphaFold Q62130
Predicted Effect possibly damaging
Transcript: ENSMUST00000027898
AA Change: V222E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: V222E

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: V222E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: V222E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (61/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T C 11: 71,920,126 (GRCm39) D314G probably benign Het
Ankrd12 T G 17: 66,290,939 (GRCm39) E1498A probably benign Het
Appl1 A T 14: 26,647,372 (GRCm39) probably null Het
Auh A G 13: 53,063,349 (GRCm39) *116R probably null Het
Ccdc7a T A 8: 129,691,417 (GRCm39) H402L probably benign Het
Ccr4 T C 9: 114,321,235 (GRCm39) T277A probably benign Het
Col18a1 C T 10: 76,889,072 (GRCm39) V1302I probably benign Het
Csnk1a1 T C 18: 61,688,925 (GRCm39) I35T probably benign Het
Csnk1e T C 15: 79,304,882 (GRCm39) R374G possibly damaging Het
Ddx11 A G 17: 66,437,020 (GRCm39) R105G probably benign Het
Denr C A 5: 124,065,124 (GRCm39) T159K possibly damaging Het
Dmp1 C A 5: 104,359,571 (GRCm39) Y82* probably null Het
Dok3 A G 13: 55,671,833 (GRCm39) V246A probably benign Het
Endov A C 11: 119,382,723 (GRCm39) K57Q possibly damaging Het
Fam83a A G 15: 57,873,196 (GRCm39) T342A probably benign Het
Fbln1 G A 15: 85,116,773 (GRCm39) C275Y probably damaging Het
Fhip1b T C 7: 105,034,342 (GRCm39) N430D possibly damaging Het
Foxi1 A G 11: 34,157,530 (GRCm39) I165T possibly damaging Het
Gm14496 A T 2: 181,642,275 (GRCm39) I649F probably damaging Het
Grin2b A G 6: 135,899,967 (GRCm39) S305P probably damaging Het
Grm1 G A 10: 10,564,879 (GRCm39) T1143M possibly damaging Het
Ifi202b C A 1: 173,802,298 (GRCm39) probably null Het
Klhl32 A T 4: 24,629,194 (GRCm39) D491E probably damaging Het
Klk1b1 C T 7: 43,619,767 (GRCm39) R109C possibly damaging Het
Krt13 A G 11: 100,009,706 (GRCm39) L358P probably damaging Het
Limk2 G A 11: 3,321,162 (GRCm39) probably benign Het
Mdn1 A G 4: 32,756,453 (GRCm39) D4720G probably null Het
Mkln1 T A 6: 31,435,900 (GRCm39) Y286* probably null Het
Muc6 C A 7: 141,230,579 (GRCm39) E1143* probably null Het
Myh15 A G 16: 48,901,551 (GRCm39) I242M probably benign Het
Noc4l T G 5: 110,798,828 (GRCm39) K241Q probably damaging Het
Nup88 C A 11: 70,860,607 (GRCm39) L57F possibly damaging Het
Obsl1 G T 1: 75,480,501 (GRCm39) F374L possibly damaging Het
Or51aa2 A G 7: 103,188,183 (GRCm39) I86T possibly damaging Het
Orm1 A T 4: 63,264,355 (GRCm39) D137V probably damaging Het
Osbpl2 T A 2: 179,778,895 (GRCm39) D9E probably damaging Het
P4ha3 G T 7: 99,942,986 (GRCm39) D124Y probably damaging Het
Poteg T C 8: 27,943,354 (GRCm39) V208A probably benign Het
Ppfibp1 A G 6: 146,931,843 (GRCm39) D963G probably damaging Het
Prdx6 G T 1: 161,078,660 (GRCm39) D9E probably benign Het
Prrc2b C A 2: 32,104,666 (GRCm39) N1381K probably damaging Het
Rasal1 C T 5: 120,804,420 (GRCm39) R431C probably benign Het
Rexo5 A T 7: 119,433,508 (GRCm39) M422L probably benign Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Robo2 A T 16: 73,730,588 (GRCm39) I1008N probably damaging Het
Sidt1 T A 16: 44,106,755 (GRCm39) Y225F probably benign Het
Slc6a15 A T 10: 103,225,048 (GRCm39) E45D probably benign Het
Spata31d1a T G 13: 59,850,668 (GRCm39) M487L probably benign Het
St6galnac1 C A 11: 116,666,325 (GRCm39) probably benign Het
Tcp11l2 A G 10: 84,449,469 (GRCm39) Y478C probably damaging Het
Tdrd12 G T 7: 35,223,482 (GRCm39) C67* probably null Het
Tead2 G A 7: 44,867,505 (GRCm39) G78D probably damaging Het
Tfpi2 A T 6: 3,963,849 (GRCm39) N194K probably damaging Het
Timd2 A G 11: 46,568,027 (GRCm39) probably null Het
Tmem270 T C 5: 134,930,557 (GRCm39) T235A probably benign Het
Tnrc18 T C 5: 142,774,157 (GRCm39) D224G Het
Tsga10 G T 1: 37,840,959 (GRCm39) Q416K probably benign Het
Ulk1 C A 5: 110,935,531 (GRCm39) L911F probably damaging Het
Usp8 T C 2: 126,584,491 (GRCm39) S567P probably benign Het
Vmn2r-ps158 C T 7: 42,697,270 (GRCm39) P776S probably damaging Het
Zdhhc3 A C 9: 122,918,143 (GRCm39) C129G 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
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
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'- GCCACAGTTGATAAGGTACCG -3'
(R):5'- CCAAGGTAAGATTGACCTTCCTC -3'

Sequencing Primer
(F):5'- AAAGGTTTGCCATCCCCAGTG -3'
(R):5'- GGTAAGATTGACCTTCCTCCTTCAAG -3'
Posted On 2020-09-02