Incidental Mutation 'R1845:Ptpn14'
ID 207610
Institutional Source Beutler Lab
Gene Symbol Ptpn14
Ensembl Gene ENSMUSG00000026604
Gene Name protein tyrosine phosphatase, non-receptor type 14
Synonyms C130080N23Rik, PTP36, OTTMUSG00000022087
MMRRC Submission 039870-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1845 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 189728268-189876695 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 189839502 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 263 (S263R)
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: S263R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: S263R

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: S263R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: S263R

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: ENSMUST00000181876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194127
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.7%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T A 12: 55,304,332 (GRCm38) I142N possibly damaging Het
1110038F14Rik CGGG CGGGGGG 15: 76,949,663 (GRCm38) probably benign Het
Abca17 A T 17: 24,267,716 (GRCm38) C1446S probably damaging Het
Asb16 C A 11: 102,276,756 (GRCm38) A316E possibly damaging Het
Axdnd1 C T 1: 156,376,544 (GRCm38) V384I possibly damaging Het
BC024139 A T 15: 76,125,261 (GRCm38) L207* probably null Het
Bcl3 T G 7: 19,809,627 (GRCm38) S305R probably damaging Het
Cachd1 T C 4: 100,777,358 (GRCm38) V77A probably benign Het
Cd101 C T 3: 101,029,448 (GRCm38) probably null Het
Cela1 T C 15: 100,685,167 (GRCm38) N64S probably benign Het
Cep128 T C 12: 91,289,598 (GRCm38) D366G probably benign Het
Col12a1 A G 9: 79,697,541 (GRCm38) V675A probably benign Het
Copg1 A G 6: 87,893,818 (GRCm38) Y201C probably damaging Het
Cyp24a1 T C 2: 170,487,917 (GRCm38) R372G probably benign Het
Dcaf1 A C 9: 106,851,962 (GRCm38) I567L probably benign Het
Dcn A G 10: 97,506,674 (GRCm38) D164G probably benign Het
Dnase2a T A 8: 84,909,322 (GRCm38) H113Q probably benign Het
Espl1 T C 15: 102,299,013 (GRCm38) V304A probably benign Het
Fam193a A G 5: 34,443,372 (GRCm38) D315G possibly damaging Het
Fkbp8 T A 8: 70,531,035 (GRCm38) probably null Het
Foxp4 T A 17: 47,877,959 (GRCm38) T321S probably null Het
Fut10 A G 8: 31,236,300 (GRCm38) N361S probably damaging Het
Gm13762 A G 2: 88,973,138 (GRCm38) V251A probably benign Het
Gyg A T 3: 20,151,122 (GRCm38) V94D probably damaging Het
Has2 T C 15: 56,668,578 (GRCm38) K247R probably damaging Het
Helz2 G T 2: 181,232,085 (GRCm38) D2205E probably benign Het
Hps6 T A 19: 46,004,970 (GRCm38) S449T probably benign Het
Ints10 T C 8: 68,794,671 (GRCm38) Y64H probably damaging Het
Kalrn T C 16: 34,356,961 (GRCm38) H278R probably damaging Het
Klhdc8a T C 1: 132,303,810 (GRCm38) V280A possibly damaging Het
Klk1b5 A G 7: 44,220,125 (GRCm38) M210V probably benign Het
Kmt2c G A 5: 25,373,436 (GRCm38) A614V probably benign Het
Lck T A 4: 129,558,086 (GRCm38) I45F probably benign Het
Lin7a A C 10: 107,412,059 (GRCm38) E75A probably damaging Het
Lrp1 A T 10: 127,578,673 (GRCm38) C1070S probably damaging Het
Mapk8ip3 G T 17: 24,914,583 (GRCm38) N289K probably benign Het
Mbtps1 T C 8: 119,522,493 (GRCm38) D686G probably benign Het
Mknk1 T A 4: 115,873,231 (GRCm38) C178* probably null Het
Mtmr6 A G 14: 60,296,735 (GRCm38) N474S probably damaging Het
Mvb12b A G 2: 33,840,157 (GRCm38) probably null Het
Myh6 T C 14: 54,944,674 (GRCm38) K1759R probably damaging Het
Nfatc1 T C 18: 80,635,531 (GRCm38) K881E possibly damaging Het
Nlrp10 A G 7: 108,927,041 (GRCm38) F30S probably damaging Het
Nop14 G T 5: 34,650,328 (GRCm38) A430E possibly damaging Het
Ntn4 C T 10: 93,707,353 (GRCm38) R314W probably damaging Het
Olfr1212 A G 2: 88,958,867 (GRCm38) I134V probably damaging Het
Olfr347 A T 2: 36,734,842 (GRCm38) I174F probably damaging Het
Olfr775 A G 10: 129,250,594 (GRCm38) E20G probably benign Het
Olfr794 A T 10: 129,571,348 (GRCm38) Q231L probably damaging Het
Olfr829 A T 9: 18,857,486 (GRCm38) Y287F possibly damaging Het
Osbpl7 C A 11: 97,059,128 (GRCm38) S378R probably damaging Het
Otof A T 5: 30,371,723 (GRCm38) Y1775* probably null Het
Parp16 T C 9: 65,215,594 (GRCm38) S46P possibly damaging Het
Pdlim2 C T 14: 70,164,779 (GRCm38) R296H probably damaging Het
Pi16 A T 17: 29,319,387 (GRCm38) Q58L possibly damaging Het
Pld3 C A 7: 27,539,452 (GRCm38) M190I probably benign Het
Plscr4 T G 9: 92,490,046 (GRCm38) I290S probably damaging Het
Ppip5k2 T C 1: 97,723,806 (GRCm38) D928G possibly damaging Het
Ppp1r13l T A 7: 19,368,611 (GRCm38) L15Q probably damaging Het
Sema7a G A 9: 57,954,899 (GRCm38) V178I possibly damaging Het
Sesn2 A T 4: 132,497,070 (GRCm38) Y342* probably null Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Sltm A G 9: 70,543,032 (GRCm38) N38S possibly damaging Het
Smg1 T C 7: 118,154,622 (GRCm38) probably benign Het
Spsb1 A T 4: 149,906,910 (GRCm38) V67E probably damaging Het
Suox A G 10: 128,670,539 (GRCm38) V540A possibly damaging Het
Tbc1d12 T A 19: 38,911,085 (GRCm38) I483N probably damaging Het
Tbcb A T 7: 30,224,499 (GRCm38) D198E possibly damaging Het
Tbce T C 13: 14,019,709 (GRCm38) K122E probably benign Het
Tcap T A 11: 98,384,379 (GRCm38) L113H probably damaging Het
Thsd7a A T 6: 12,321,041 (GRCm38) I1545N probably damaging Het
Tmed10 T C 12: 85,374,503 (GRCm38) T55A possibly damaging Het
Tmem268 T A 4: 63,579,943 (GRCm38) V200D probably damaging Het
Tmem45b A C 9: 31,431,355 (GRCm38) I50M probably damaging Het
Trp53bp2 T C 1: 182,458,903 (GRCm38) W1103R probably damaging Het
Ttn C T 2: 76,764,033 (GRCm38) V20524M probably damaging Het
Ulk2 A T 11: 61,812,738 (GRCm38) N379K probably benign Het
Vmn1r59 A G 7: 5,454,554 (GRCm38) V69A probably benign Het
Vmn2r10 A T 5: 109,001,995 (GRCm38) Y394* probably null Het
Zfp212 T C 6: 47,931,541 (GRCm38) S485P probably benign Het
Zfp512b A T 2: 181,585,735 (GRCm38) C776S probably damaging Het
Zfp518b A G 5: 38,671,741 (GRCm38) Y974H probably damaging Het
Other mutations in Ptpn14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Ptpn14 APN 1 189,822,633 (GRCm38) missense probably damaging 1.00
IGL02501:Ptpn14 APN 1 189,850,390 (GRCm38) missense probably benign 0.14
IGL03011:Ptpn14 APN 1 189,839,557 (GRCm38) missense probably damaging 1.00
jelly UTSW 1 189,822,675 (GRCm38) nonsense probably null
Rubens UTSW 1 189,832,800 (GRCm38) critical splice donor site probably null
R0724:Ptpn14 UTSW 1 189,850,947 (GRCm38) missense possibly damaging 0.52
R0791:Ptpn14 UTSW 1 189,836,440 (GRCm38) splice site probably benign
R1363:Ptpn14 UTSW 1 189,798,628 (GRCm38) missense probably damaging 1.00
R1605:Ptpn14 UTSW 1 189,865,512 (GRCm38) missense probably benign 0.00
R1840:Ptpn14 UTSW 1 189,786,851 (GRCm38) missense probably damaging 1.00
R1891:Ptpn14 UTSW 1 189,798,653 (GRCm38) missense probably damaging 1.00
R2187:Ptpn14 UTSW 1 189,863,228 (GRCm38) nonsense probably null
R2288:Ptpn14 UTSW 1 189,865,498 (GRCm38) missense probably damaging 1.00
R3686:Ptpn14 UTSW 1 189,851,399 (GRCm38) missense probably damaging 1.00
R3895:Ptpn14 UTSW 1 189,850,546 (GRCm38) missense probably benign 0.31
R3898:Ptpn14 UTSW 1 189,850,531 (GRCm38) missense probably benign 0.35
R4004:Ptpn14 UTSW 1 189,850,510 (GRCm38) missense probably benign 0.00
R4816:Ptpn14 UTSW 1 189,856,800 (GRCm38) missense probably damaging 1.00
R4883:Ptpn14 UTSW 1 189,850,800 (GRCm38) missense probably damaging 0.99
R4928:Ptpn14 UTSW 1 189,822,642 (GRCm38) missense probably damaging 1.00
R4931:Ptpn14 UTSW 1 189,851,277 (GRCm38) missense probably benign
R4957:Ptpn14 UTSW 1 189,851,272 (GRCm38) missense probably benign 0.02
R5009:Ptpn14 UTSW 1 189,850,534 (GRCm38) missense probably benign
R5038:Ptpn14 UTSW 1 189,786,886 (GRCm38) missense probably damaging 1.00
R5264:Ptpn14 UTSW 1 189,832,800 (GRCm38) critical splice donor site probably null
R5373:Ptpn14 UTSW 1 189,850,963 (GRCm38) missense probably benign
R5441:Ptpn14 UTSW 1 189,798,570 (GRCm38) missense probably damaging 1.00
R5540:Ptpn14 UTSW 1 189,846,364 (GRCm38) missense probably benign 0.05
R5638:Ptpn14 UTSW 1 189,786,841 (GRCm38) missense probably damaging 1.00
R5746:Ptpn14 UTSW 1 189,846,413 (GRCm38) critical splice donor site probably null
R5872:Ptpn14 UTSW 1 189,851,032 (GRCm38) missense probably benign 0.00
R5988:Ptpn14 UTSW 1 189,850,387 (GRCm38) missense probably damaging 1.00
R6139:Ptpn14 UTSW 1 189,851,165 (GRCm38) missense probably benign 0.01
R6295:Ptpn14 UTSW 1 189,850,800 (GRCm38) missense probably damaging 0.99
R6770:Ptpn14 UTSW 1 189,832,773 (GRCm38) missense probably damaging 1.00
R7097:Ptpn14 UTSW 1 189,863,398 (GRCm38) nonsense probably null
R7320:Ptpn14 UTSW 1 189,832,759 (GRCm38) missense probably benign 0.11
R7324:Ptpn14 UTSW 1 189,863,424 (GRCm38) missense possibly damaging 0.46
R7599:Ptpn14 UTSW 1 189,850,745 (GRCm38) missense probably benign 0.39
R7699:Ptpn14 UTSW 1 189,865,411 (GRCm38) missense probably benign 0.08
R7700:Ptpn14 UTSW 1 189,865,411 (GRCm38) missense probably benign 0.08
R8379:Ptpn14 UTSW 1 189,833,401 (GRCm38) missense possibly damaging 0.95
R8889:Ptpn14 UTSW 1 189,822,675 (GRCm38) nonsense probably null
R9659:Ptpn14 UTSW 1 189,854,977 (GRCm38) missense probably benign 0.00
R9719:Ptpn14 UTSW 1 189,851,287 (GRCm38) missense probably benign 0.00
Z1177:Ptpn14 UTSW 1 189,860,470 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATCAAATTGTTGCCTGTGTGAG -3'
(R):5'- CAGCATTGAGTCCCATGTGG -3'

Sequencing Primer
(F):5'- GCCTGTGTGAGTGGTACC -3'
(R):5'- TGCAGGAGTGTCCAACATGC -3'
Posted On 2014-06-23