Incidental Mutation 'IGL02864:Ptk7'
ID362263
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 #IGL02864
Quality Score
Status
Chromosome17
Chromosomal Location46564451-46629504 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 46572733 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 802 (V802E)
Ref Sequence ENSEMBL: ENSMUSP00000043703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044442]
Predicted Effect probably damaging
Transcript: ENSMUST00000044442
AA Change: V802E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972
AA Change: V802E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,143,431 R347G probably damaging Het
Actl11 G A 9: 107,928,987 A170T probably benign Het
Alpk2 T C 18: 65,307,599 D241G probably benign Het
Arap2 A T 5: 62,677,965 W745R probably damaging Het
Arhgef7 G A 8: 11,815,247 V401I possibly damaging Het
Cacna1d A G 14: 30,051,706 V1709A probably benign Het
Ccl20 T C 1: 83,118,078 probably null Het
Cd209d C T 8: 3,877,122 V48I probably benign Het
Cttnbp2 T C 6: 18,374,549 N1559S probably benign Het
Dnah9 T C 11: 66,061,003 Y1890C probably damaging Het
Dsel A T 1: 111,859,214 M1197K probably damaging Het
Dtl A T 1: 191,556,826 S259T probably benign Het
Fbxw10 G A 11: 62,873,523 G672D probably damaging Het
Fhod1 C T 8: 105,337,164 probably benign Het
Gm10424 G T 5: 95,270,684 A151E possibly damaging Het
Gstk1 A G 6: 42,247,753 Y135C possibly damaging Het
Gtpbp2 G A 17: 46,165,594 C282Y probably benign Het
Hapln3 A T 7: 79,118,064 W113R probably benign Het
Ifng A G 10: 118,442,656 Y74C probably damaging Het
Kyat1 C A 2: 30,192,077 probably benign Het
Las1l A T X: 95,947,840 D308E possibly damaging Het
Mdh1b T A 1: 63,721,603 T100S probably benign Het
Nrap A T 19: 56,350,374 M810K probably damaging Het
Otof T C 5: 30,386,341 D593G probably damaging Het
Pnma5 A T X: 73,035,851 D408E probably benign Het
Psen2 T C 1: 180,245,703 T18A probably benign Het
Setd1b G A 5: 123,158,939 probably benign Het
Snap91 T C 9: 86,838,088 N132S possibly damaging Het
Spag9 A G 11: 94,106,661 H675R probably damaging Het
Tpra1 C A 6: 88,911,886 P350H probably damaging Het
Trim43a C T 9: 88,588,112 R324C probably benign Het
Ttn G T 2: 76,936,751 H3023Q probably benign Het
Ttn T C 2: 76,736,331 I28073V probably benign Het
Vmn1r21 A G 6: 57,843,676 V261A probably benign Het
Vwa5b1 G A 4: 138,608,975 P103S probably benign Het
Wars A G 12: 108,882,865 M52T probably benign Het
Zcchc2 C T 1: 106,016,084 H460Y probably damaging Het
Zscan12 G T 13: 21,368,560 V185F probably benign Het
Other mutations in Ptk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Ptk7 APN 17 46574427 missense probably damaging 1.00
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
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
R7949:Ptk7 UTSW 17 46586461 missense possibly damaging 0.64
R8773:Ptk7 UTSW 17 46566267 missense possibly damaging 0.88
Posted On2015-12-18