Incidental Mutation 'R2937:Ptk7'
ID 255104
Institutional Source Beutler Lab
Gene Symbol Ptk7
Ensembl Gene ENSMUSG00000023972
Gene Name PTK7 protein tyrosine kinase 7
Synonyms 8430404F20Rik, mPTK7/CCK4, chz
MMRRC Submission 040514-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2937 (G1)
Quality Score 147
Status Validated
Chromosome 17
Chromosomal Location 46875397-46940430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46883476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 863 (H863R)
Ref Sequence ENSEMBL: ENSMUSP00000043703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044442]
AlphaFold Q8BKG3
Predicted Effect probably damaging
Transcript: ENSMUST00000044442
AA Change: H863R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972
AA Change: H863R

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
Meta Mutation Damage Score 0.5751 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,258,350 (GRCm39) E481G probably damaging Het
Anks1b C T 10: 89,912,928 (GRCm39) T351M probably damaging Het
Arhgap45 T A 10: 79,864,836 (GRCm39) M933K probably damaging Het
Asph A C 4: 9,542,314 (GRCm39) probably benign Het
Bace2 T C 16: 97,213,388 (GRCm39) probably null Het
Cacna1b A G 2: 24,496,540 (GRCm39) V125A probably benign Het
Cbarp T C 10: 79,967,603 (GRCm39) D539G probably damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdr1 T G X: 60,228,968 (GRCm39) D66A unknown Het
Cela3b A G 4: 137,150,574 (GRCm39) I208T probably benign Het
Cfap91 A T 16: 38,131,400 (GRCm39) I471N possibly damaging Het
Clca3a2 T A 3: 144,519,679 (GRCm39) T232S probably benign Het
Col1a2 G A 6: 4,519,882 (GRCm39) probably benign Het
Col1a2 A T 6: 4,520,788 (GRCm39) Q375L possibly damaging Het
Cpd T C 11: 76,702,685 (GRCm39) N561S probably damaging Het
Csn1s1 A T 5: 87,824,995 (GRCm39) Q221L possibly damaging Het
Depdc5 G A 5: 33,058,965 (GRCm39) probably null Het
Dnah10 T C 5: 124,896,476 (GRCm39) probably null Het
Dsg2 T C 18: 20,712,185 (GRCm39) F107S probably damaging Het
Dthd1 A G 5: 63,000,300 (GRCm39) I541V probably benign Het
Eml6 G A 11: 29,783,049 (GRCm39) probably benign Het
Fermt2 A C 14: 45,741,948 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,730 (GRCm39) R498S possibly damaging Het
Glis1 A G 4: 107,489,488 (GRCm39) N692D possibly damaging Het
Grtp1 G A 8: 13,239,755 (GRCm39) probably benign Het
Hecw1 G T 13: 14,420,421 (GRCm39) Q1001K possibly damaging Het
Hydin T C 8: 111,130,927 (GRCm39) V606A possibly damaging Het
Krt33b T A 11: 99,914,835 (GRCm39) N388I probably benign Het
Lipf T C 19: 33,950,438 (GRCm39) Y277H probably damaging Het
Lmod1 A G 1: 135,291,654 (GRCm39) K170E probably benign Het
Lrrtm1 A T 6: 77,220,635 (GRCm39) M31L probably benign Het
Man1c1 A G 4: 134,430,263 (GRCm39) I173T possibly damaging Het
Med17 T C 9: 15,187,187 (GRCm39) K196E probably damaging Het
Mmp25 T A 17: 23,863,765 (GRCm39) I22F probably benign Het
Nrg3 T A 14: 38,092,965 (GRCm39) N540I possibly damaging Het
Nsun5 C T 5: 135,404,317 (GRCm39) Q375* probably null Het
Or52ad1 T C 7: 102,995,272 (GRCm39) M288V probably benign Het
Or52r1c T A 7: 102,735,548 (GRCm39) H269Q probably benign Het
Pcdh1 G T 18: 38,322,815 (GRCm39) A1006E probably benign Het
Pdss1 T A 2: 22,796,799 (GRCm39) probably null Het
Plaa G A 4: 94,457,696 (GRCm39) A758V probably damaging Het
Prl6a1 T A 13: 27,499,303 (GRCm39) W24R probably damaging Het
Rbm10 T C X: 20,513,934 (GRCm39) L429P possibly damaging Het
Rhou T C 8: 124,387,880 (GRCm39) I204T possibly damaging Het
Serpind1 G T 16: 17,154,972 (GRCm39) M266I probably benign Het
Sgcg A T 14: 61,467,074 (GRCm39) F175L probably damaging Het
Slc2a2 T G 3: 28,772,920 (GRCm39) C238G probably damaging Het
Slc39a8 A G 3: 135,592,584 (GRCm39) M420V probably benign Het
Slc7a9 C A 7: 35,163,167 (GRCm39) Y457* probably null Het
Smpd3 C T 8: 106,991,452 (GRCm39) R367H probably damaging Het
Sntb2 T C 8: 107,662,729 (GRCm39) V99A probably benign Het
Specc1l T G 10: 75,094,965 (GRCm39) I796R probably damaging Het
Stfa2l1 G T 16: 35,980,316 (GRCm39) V29F probably damaging Het
Synrg T C 11: 83,885,180 (GRCm39) F455S probably damaging Het
Tap2 T C 17: 34,431,328 (GRCm39) V422A possibly damaging Het
Tcf7 A T 11: 52,173,610 (GRCm39) probably null Het
Tcp10a A G 17: 7,597,173 (GRCm39) Y110C probably damaging Het
Thoc1 T A 18: 9,959,255 (GRCm39) S43R probably damaging Het
Tlr1 A G 5: 65,083,251 (GRCm39) V442A probably damaging Het
Tmub1 A G 5: 24,650,922 (GRCm39) *261Q probably null Het
Trpc3 G A 3: 36,688,532 (GRCm39) R836* probably null Het
Tsbp1 A T 17: 34,640,836 (GRCm39) H57L possibly damaging Het
Ube2u T C 4: 100,381,495 (GRCm39) S185P possibly damaging Het
Vamp5 A G 6: 72,346,323 (GRCm39) V91A probably benign Het
Vcp A G 4: 42,980,846 (GRCm39) Y755H probably damaging Het
Vmn1r35 A T 6: 66,655,950 (GRCm39) M73K possibly damaging Het
Vmn2r12 C T 5: 109,239,397 (GRCm39) E389K probably damaging Het
Wdfy3 A T 5: 102,091,988 (GRCm39) F450L probably benign Het
Xpo4 G T 14: 57,841,897 (GRCm39) Q473K probably benign Het
Xpo7 A G 14: 70,909,130 (GRCm39) I797T probably damaging Het
Xylt1 C A 7: 117,234,011 (GRCm39) Q513K probably benign Het
Zfp229 T C 17: 21,964,484 (GRCm39) F238S probably damaging Het
Other mutations in Ptk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Ptk7 APN 17 46,885,353 (GRCm39) missense probably damaging 1.00
IGL01064:Ptk7 APN 17 46,884,492 (GRCm39) nonsense probably null
IGL01444:Ptk7 APN 17 46,876,313 (GRCm39) missense probably damaging 1.00
IGL01477:Ptk7 APN 17 46,887,806 (GRCm39) missense possibly damaging 0.61
IGL01727:Ptk7 APN 17 46,883,474 (GRCm39) missense probably damaging 1.00
IGL01958:Ptk7 APN 17 46,890,353 (GRCm39) missense probably benign 0.37
IGL02496:Ptk7 APN 17 46,901,070 (GRCm39) missense probably benign 0.04
IGL02864:Ptk7 APN 17 46,883,659 (GRCm39) missense probably damaging 1.00
R0008:Ptk7 UTSW 17 46,883,688 (GRCm39) splice site probably benign
R0671:Ptk7 UTSW 17 46,901,238 (GRCm39) missense possibly damaging 0.94
R1464:Ptk7 UTSW 17 46,883,517 (GRCm39) missense probably damaging 1.00
R1464:Ptk7 UTSW 17 46,883,517 (GRCm39) missense probably damaging 1.00
R1549:Ptk7 UTSW 17 46,883,578 (GRCm39) missense probably damaging 1.00
R1635:Ptk7 UTSW 17 46,884,460 (GRCm39) missense possibly damaging 0.81
R1646:Ptk7 UTSW 17 46,897,223 (GRCm39) missense probably benign 0.44
R1846:Ptk7 UTSW 17 46,887,416 (GRCm39) critical splice donor site probably null
R1973:Ptk7 UTSW 17 46,897,733 (GRCm39) nonsense probably null
R2060:Ptk7 UTSW 17 46,877,164 (GRCm39) missense possibly damaging 0.83
R2155:Ptk7 UTSW 17 46,890,543 (GRCm39) missense probably benign 0.09
R2472:Ptk7 UTSW 17 46,887,774 (GRCm39) missense probably benign 0.35
R3824:Ptk7 UTSW 17 46,876,304 (GRCm39) missense probably damaging 1.00
R3845:Ptk7 UTSW 17 46,897,344 (GRCm39) missense probably benign 0.00
R4222:Ptk7 UTSW 17 46,885,389 (GRCm39) missense probably benign
R4671:Ptk7 UTSW 17 46,885,392 (GRCm39) missense probably benign
R4922:Ptk7 UTSW 17 46,887,417 (GRCm39) critical splice donor site probably null
R5319:Ptk7 UTSW 17 46,883,603 (GRCm39) missense probably damaging 1.00
R5993:Ptk7 UTSW 17 46,876,296 (GRCm39) missense probably benign
R6254:Ptk7 UTSW 17 46,883,568 (GRCm39) missense probably damaging 1.00
R6352:Ptk7 UTSW 17 46,887,816 (GRCm39) missense probably benign 0.00
R6806:Ptk7 UTSW 17 46,884,454 (GRCm39) missense probably damaging 0.99
R7338:Ptk7 UTSW 17 46,890,525 (GRCm39) missense probably benign 0.00
R7394:Ptk7 UTSW 17 46,902,683 (GRCm39) missense probably damaging 1.00
R7709:Ptk7 UTSW 17 46,882,569 (GRCm39) missense possibly damaging 0.81
R7949:Ptk7 UTSW 17 46,897,387 (GRCm39) missense possibly damaging 0.64
R8773:Ptk7 UTSW 17 46,877,193 (GRCm39) missense possibly damaging 0.88
R9059:Ptk7 UTSW 17 46,877,117 (GRCm39) missense probably damaging 1.00
R9327:Ptk7 UTSW 17 46,878,977 (GRCm39) missense probably benign 0.17
R9495:Ptk7 UTSW 17 46,887,744 (GRCm39) missense possibly damaging 0.82
R9514:Ptk7 UTSW 17 46,887,744 (GRCm39) missense possibly damaging 0.82
R9638:Ptk7 UTSW 17 46,890,519 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ATTGACCTCCAGAAAGACGGG -3'
(R):5'- CACCAGGGAAAAGCGAGTTC -3'

Sequencing Primer
(F):5'- GAATACAGGTAAAGGCAGGGCTG -3'
(R):5'- AGGTGTTCCTGGCAAAGGC -3'
Posted On 2014-12-29