Incidental Mutation 'R5746:Ptpn14'
ID 462708
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 043199-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5746 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 189460465-189608892 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 189578610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027898] [ENSMUST00000097442] [ENSMUST00000097442]
AlphaFold Q62130
Predicted Effect probably null
Transcript: ENSMUST00000027898
SMART Domains Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604

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 null
Transcript: ENSMUST00000097442
SMART Domains Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604

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 null
Transcript: ENSMUST00000097442
SMART Domains Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 A G 3: 105,815,126 (GRCm39) E292G possibly damaging Het
Ank1 C T 8: 23,606,612 (GRCm39) T1187I probably damaging Het
Ankrd16 T A 2: 11,789,178 (GRCm39) I255K probably damaging Het
Atp6ap1l T C 13: 91,031,698 (GRCm39) N328S probably benign Het
Cbln3 A G 14: 56,120,601 (GRCm39) S144P probably damaging Het
Cdh12 T A 15: 21,358,810 (GRCm39) L78Q probably null Het
Cpsf1 C T 15: 76,484,037 (GRCm39) R761H probably benign Het
Cyp2d10 T G 15: 82,289,472 (GRCm39) E213D probably benign Het
Gba2 T C 4: 43,568,465 (GRCm39) probably null Het
Glb1l2 G A 9: 26,708,086 (GRCm39) A29V probably benign Het
Gm11149 C T 9: 49,457,494 (GRCm39) G393S probably damaging Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Kcnma1 T C 14: 23,544,635 (GRCm39) N574S probably damaging Het
Kdm2b A G 5: 123,017,427 (GRCm39) V1099A probably damaging Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Ly6g A T 15: 75,028,596 (GRCm39) N19Y possibly damaging Het
Nexn TCTTCCTTC TCTTC 3: 151,948,513 (GRCm39) probably benign Het
Nod2 T C 8: 89,390,970 (GRCm39) S411P probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Smg6 G A 11: 75,030,113 (GRCm39) G211E probably damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d15 T C 10: 115,046,184 (GRCm39) S440G probably damaging Het
Tpm2 A G 4: 43,519,731 (GRCm39) V85A possibly damaging Het
Ttf1 G T 2: 28,955,754 (GRCm39) A373S probably damaging Het
Vmn2r11 T A 5: 109,201,560 (GRCm39) T315S probably benign Het
Zcchc14 T C 8: 122,331,378 (GRCm39) probably benign Het
Zfp146 T C 7: 29,861,818 (GRCm39) S75G probably benign Het
Zfp994 A G 17: 22,420,254 (GRCm39) Y232H 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
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'- ACAGTGATGTAATGTGCTTCCC -3'
(R):5'- ACAATGACAATGTTGCCACC -3'

Sequencing Primer
(F):5'- AATGTGCTTCCCTGGGTG -3'
(R):5'- GACAATGTTGCCACCATTATCAG -3'
Posted On 2017-03-01