Incidental Mutation 'R7324:Ptpn14'
ID 568721
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 045418-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7324 (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 G at 189595621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 748 (V748G)
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: V748G

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: V748G

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: V1088G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: V1088G

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T C 17: 84,983,667 (GRCm39) D124G possibly damaging Het
Ackr3 C G 1: 90,141,923 (GRCm39) N127K probably damaging Het
AL732309.1 A C 2: 25,136,151 (GRCm39) M21R possibly damaging Het
Ankrd52 C A 10: 128,222,032 (GRCm39) T552K possibly damaging Het
Arhgap28 T C 17: 68,202,879 (GRCm39) probably null Het
Arid5b A T 10: 67,964,752 (GRCm39) N306K probably benign Het
C1qtnf3 A C 15: 10,952,707 (GRCm39) K56N probably benign Het
C2 C T 17: 35,100,664 (GRCm39) G52D probably benign Het
Casz1 C T 4: 149,031,490 (GRCm39) T1247M probably damaging Het
Cc2d2b A G 19: 40,797,552 (GRCm39) D778G unknown Het
Cdh5 A G 8: 104,869,425 (GRCm39) D717G probably damaging Het
Clca3a2 G A 3: 144,514,372 (GRCm39) A445V probably damaging Het
Clca3b T A 3: 144,547,181 (GRCm39) M319L possibly damaging Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Csnk1g3 A G 18: 54,052,090 (GRCm39) T220A probably damaging Het
Cyp2d10 T G 15: 82,287,961 (GRCm39) T381P probably damaging Het
Ddb2 G A 2: 91,067,229 (GRCm39) probably benign Het
Ddx24 C A 12: 103,382,518 (GRCm39) L688F probably damaging Het
Dennd4c T C 4: 86,747,975 (GRCm39) L1615P unknown Het
Dnah8 T A 17: 31,003,099 (GRCm39) D3599E probably benign Het
Dst T C 1: 34,045,305 (GRCm39) S13P possibly damaging Het
Efcab12 T C 6: 115,800,555 (GRCm39) D156G probably benign Het
Enpp2 A G 15: 54,741,170 (GRCm39) probably null Het
Ephx2 A G 14: 66,322,803 (GRCm39) V490A probably damaging Het
Etnppl A G 3: 130,423,224 (GRCm39) N308D probably damaging Het
F5 TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA 1: 164,021,150 (GRCm39) probably benign Het
Fam162b A T 10: 51,466,282 (GRCm39) probably null Het
Fancl A G 11: 26,353,362 (GRCm39) E86G probably damaging Het
Flii G A 11: 60,609,866 (GRCm39) T615I probably benign Het
Fndc7 G T 3: 108,779,537 (GRCm39) Q336K probably benign Het
Gm26661 T C 14: 7,791,911 (GRCm38) C109R unknown Het
H2-DMb1 T C 17: 34,378,436 (GRCm39) probably null Het
H2-T10 C T 17: 36,430,189 (GRCm39) G251R probably damaging Het
Harbi1 T C 2: 91,551,044 (GRCm39) I339T probably benign Het
Hsp90aa1 A G 12: 110,661,659 (GRCm39) M119T unknown Het
Ighe T A 12: 113,235,954 (GRCm39) Y124F Het
Ighv7-1 T C 12: 113,860,149 (GRCm39) Y81C probably damaging Het
Ilkap A T 1: 91,313,115 (GRCm39) probably null Het
Inpp5a A G 7: 139,105,586 (GRCm39) D179G probably damaging Het
Itgad A T 7: 127,788,979 (GRCm39) D510V probably damaging Het
Kcnn2 A T 18: 45,693,138 (GRCm39) H238L probably benign Het
Kctd17 T A 15: 78,319,842 (GRCm39) C189S probably damaging Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Llgl2 A G 11: 115,741,556 (GRCm39) E562G possibly damaging Het
Macf1 T C 4: 123,268,218 (GRCm39) T6734A probably benign Het
Maz G A 7: 126,623,765 (GRCm39) T377M probably damaging Het
Mmrn1 G T 6: 60,921,917 (GRCm39) G125* probably null Het
Mvp A G 7: 126,592,781 (GRCm39) S377P probably benign Het
Nin C T 12: 70,090,508 (GRCm39) R969Q Het
Nktr C T 9: 121,556,427 (GRCm39) T35I probably damaging Het
Nktr T A 9: 121,577,357 (GRCm39) M475K possibly damaging Het
Nod2 T A 8: 89,379,694 (GRCm39) V65D probably damaging Het
Opa1 A T 16: 29,405,799 (GRCm39) E121D probably benign Het
Or10w3 C T 19: 13,704,270 (GRCm39) A215V probably benign Het
Or1r1 A G 11: 73,874,669 (GRCm39) V255A probably benign Het
Or2n1c T C 17: 38,519,607 (GRCm39) V157A probably benign Het
Or4a76 A T 2: 89,460,447 (GRCm39) I265N possibly damaging Het
Or5ac21 T C 16: 59,123,611 (GRCm39) F32L probably benign Het
Or5b123 A G 19: 13,596,942 (GRCm39) I96V probably benign Het
Or6c88 T A 10: 129,406,718 (GRCm39) S65T probably damaging Het
Or7e174 A T 9: 20,012,726 (GRCm39) I224F possibly damaging Het
Osbpl2 A G 2: 179,791,994 (GRCm39) T233A probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Plekhh3 T A 11: 101,061,600 (GRCm39) D38V possibly damaging Het
Prtg C T 9: 72,798,122 (GRCm39) A696V probably damaging Het
Reg2 A T 6: 78,383,137 (GRCm39) D28V probably benign Het
Rhpn1 A T 15: 75,576,246 (GRCm39) I2F possibly damaging Het
Rundc3a A G 11: 102,290,799 (GRCm39) E294G possibly damaging Het
Scara3 T A 14: 66,168,865 (GRCm39) I251L probably benign Het
Slc23a2 G A 2: 131,931,043 (GRCm39) T152I probably damaging Het
Slc39a2 T G 14: 52,131,650 (GRCm39) S74A possibly damaging Het
Tmprss15 T C 16: 78,758,907 (GRCm39) Y937C probably damaging Het
Tpp2 T C 1: 44,017,938 (GRCm39) L779S probably damaging Het
Tssk2 T C 16: 17,717,227 (GRCm39) V210A possibly damaging Het
Ttn T A 2: 76,725,937 (GRCm39) T6100S unknown Het
Tufm G A 7: 126,088,759 (GRCm39) E317K possibly damaging Het
Vinac1 T C 2: 128,879,772 (GRCm39) D718G unknown Het
Wdfy4 A G 14: 32,769,271 (GRCm39) S2219P Het
Wtap T C 17: 13,199,833 (GRCm39) N50S 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
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
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'- AAAAGCCATCGATACTGGCC -3'
(R):5'- CAGACGTGCATAAGACGTTAACAG -3'

Sequencing Primer
(F):5'- ACTGGGGTCCAAGCATAGTTC -3'
(R):5'- GAGCAAGAGACACTTATTACTCTTCC -3'
Posted On 2019-09-13