Incidental Mutation 'IGL00427:Ptk7'
ID3841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptk7
Ensembl Gene ENSMUSG00000023972
Gene NamePTK7 protein tyrosine kinase 7
Synonyms8430404F20Rik, mPTK7/CCK4, chz
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00427
Quality Score
Status
Chromosome17
Chromosomal Location46564451-46629504 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46574427 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 691 (Y691C)
Ref Sequence ENSEMBL: ENSMUSP00000043703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044442]
Predicted Effect probably damaging
Transcript: ENSMUST00000044442
AA Change: Y691C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972
AA Change: Y691C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGc2 36 100 1.48e-6 SMART
IGc2 133 199 8.12e-13 SMART
IGc2 229 300 5.01e-4 SMART
IGc2 326 390 1.96e-6 SMART
IG 410 491 6.02e-7 SMART
IGc2 507 569 1.19e-10 SMART
IGc2 596 663 2.6e-11 SMART
transmembrane domain 696 718 N/A INTRINSIC
TyrKc 788 1053 4.34e-115 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele die perinatally with defects in neural tube closure and planar cell polarity in the ear. ENU-induced mutant mice show omphalocele, impaired neural tube, heart and lung development, rib defects, polydactyly, failed eyelid closure and altered cell polarity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,194,357 D289G probably damaging Het
Adnp C T 2: 168,182,562 D938N probably benign Het
Arpin T A 7: 79,927,675 N208I probably benign Het
Cby3 A G 11: 50,357,811 probably benign Het
Cnih4 T A 1: 181,153,747 S28T probably damaging Het
D130052B06Rik G T 11: 33,623,558 V97L possibly damaging Het
Dchs1 T C 7: 105,758,424 E2067G probably damaging Het
Dennd6a C T 14: 26,608,613 T113I probably damaging Het
Dock4 T A 12: 40,832,306 F1590L possibly damaging Het
Dopey1 C A 9: 86,521,498 Q1582K possibly damaging Het
Dopey1 A T 9: 86,521,499 Q1582L probably damaging Het
Dopey1 G T 9: 86,521,500 Q1582H probably benign Het
Ebna1bp2 A T 4: 118,625,821 K291M probably damaging Het
Evpl G T 11: 116,234,505 Q73K probably benign Het
Fam131b G T 6: 42,318,961 T139K probably damaging Het
Gm10704 A C 3: 88,576,923 probably benign Het
Golga3 A G 5: 110,220,887 T1358A probably damaging Het
Gpr1 A T 1: 63,183,338 I246N probably damaging Het
Hgf G A 5: 16,578,486 D265N probably benign Het
Homer1 A G 13: 93,402,114 N333S probably benign Het
Igkv17-134 A T 6: 67,720,984 probably benign Het
Il16 T C 7: 83,652,458 D152G probably benign Het
Ireb2 T C 9: 54,899,482 probably benign Het
Itgb2 C T 10: 77,557,956 T410I probably benign Het
Kctd14 C A 7: 97,457,712 A111E possibly damaging Het
Lmod3 A C 6: 97,252,297 V92G probably damaging Het
Lmtk2 A G 5: 144,134,155 D83G probably damaging Het
Myh1 A G 11: 67,220,865 E1682G probably damaging Het
Myo9a T A 9: 59,843,059 probably benign Het
Nlrc4 T C 17: 74,447,092 N99D probably benign Het
P2rx3 A G 2: 85,035,272 Y10H probably damaging Het
Pcsk7 C A 9: 45,927,660 D623E probably benign Het
Plxna1 A G 6: 89,320,998 I1766T probably damaging Het
Rec8 A T 14: 55,618,651 T17S probably damaging Het
Ryr1 T C 7: 29,104,737 probably benign Het
Scg3 T G 9: 75,663,237 K345T probably damaging Het
Serpina3b A T 12: 104,132,941 K238N probably benign Het
Slc38a9 T A 13: 112,701,618 S306T probably damaging Het
Txndc16 A G 14: 45,145,090 probably benign Het
Vmn1r238 T A 18: 3,123,243 Y57F probably benign Het
Vmn2r104 A T 17: 20,038,239 S548T probably damaging Het
Xrcc1 T A 7: 24,547,884 probably null Het
Other mutations in Ptk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Ptk7 APN 17 46573566 nonsense probably null
IGL01444:Ptk7 APN 17 46565387 missense probably damaging 1.00
IGL01477:Ptk7 APN 17 46576880 missense possibly damaging 0.61
IGL01727:Ptk7 APN 17 46572548 missense probably damaging 1.00
IGL01958:Ptk7 APN 17 46579427 missense probably benign 0.37
IGL02496:Ptk7 APN 17 46590144 missense probably benign 0.04
IGL02864:Ptk7 APN 17 46572733 missense probably damaging 1.00
R0008:Ptk7 UTSW 17 46572762 splice site probably benign
R0671:Ptk7 UTSW 17 46590312 missense possibly damaging 0.94
R1464:Ptk7 UTSW 17 46572591 missense probably damaging 1.00
R1464:Ptk7 UTSW 17 46572591 missense probably damaging 1.00
R1549:Ptk7 UTSW 17 46572652 missense probably damaging 1.00
R1635:Ptk7 UTSW 17 46573534 missense possibly damaging 0.81
R1646:Ptk7 UTSW 17 46586297 missense probably benign 0.44
R1846:Ptk7 UTSW 17 46576490 critical splice donor site probably null
R1973:Ptk7 UTSW 17 46586807 nonsense probably null
R2060:Ptk7 UTSW 17 46566238 missense possibly damaging 0.83
R2155:Ptk7 UTSW 17 46579617 missense probably benign 0.09
R2472:Ptk7 UTSW 17 46576848 missense probably benign 0.35
R2937:Ptk7 UTSW 17 46572550 missense probably damaging 0.99
R3824:Ptk7 UTSW 17 46565378 missense probably damaging 1.00
R3845:Ptk7 UTSW 17 46586418 missense probably benign 0.00
R4222:Ptk7 UTSW 17 46574463 missense probably benign
R4671:Ptk7 UTSW 17 46574466 missense probably benign
R4922:Ptk7 UTSW 17 46576491 critical splice donor site probably null
R5319:Ptk7 UTSW 17 46572677 missense probably damaging 1.00
R5993:Ptk7 UTSW 17 46565370 missense probably benign
R6254:Ptk7 UTSW 17 46572642 missense probably damaging 1.00
R6352:Ptk7 UTSW 17 46576890 missense probably benign 0.00
R6806:Ptk7 UTSW 17 46573528 missense probably damaging 0.99
R7338:Ptk7 UTSW 17 46579599 missense probably benign 0.00
R7394:Ptk7 UTSW 17 46591757 missense probably damaging 1.00
R7709:Ptk7 UTSW 17 46571643 missense possibly damaging 0.81
Posted On2012-04-20