Incidental Mutation 'R1635:Ptk7'
ID 173123
Institutional Source Beutler Lab
Gene Symbol Ptk7
Ensembl Gene ENSMUSG00000023972
Gene Name PTK7 protein tyrosine kinase 7
Synonyms 8430404F20Rik, mPTK7/CCK4, chz
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1635 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 46875397-46940430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46884460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 757 (E757K)
Ref Sequence ENSEMBL: ENSMUSP00000043703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044442]
AlphaFold Q8BKG3
Predicted Effect possibly damaging
Transcript: ENSMUST00000044442
AA Change: E757K

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972
AA Change: E757K

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.9%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,334,868 (GRCm39) I1947F probably benign Het
Adgrd1 G T 5: 129,205,971 (GRCm39) V182F probably damaging Het
Agmat A G 4: 141,474,380 (GRCm39) D87G probably damaging Het
AI182371 T C 2: 34,978,749 (GRCm39) probably null Het
Anapc1 G T 2: 128,470,452 (GRCm39) H1559Q probably damaging Het
Ankar T C 1: 72,689,297 (GRCm39) Y1278C probably damaging Het
Arhgef2 A T 3: 88,546,628 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Banp A T 8: 122,727,750 (GRCm39) I130F probably damaging Het
C130050O18Rik G T 5: 139,400,248 (GRCm39) R100S probably benign Het
Carmil3 A G 14: 55,733,739 (GRCm39) T374A possibly damaging Het
Cc2d2a T A 5: 43,879,812 (GRCm39) W1076R probably damaging Het
Cdc34 T G 10: 79,523,888 (GRCm39) S235A probably benign Het
Cdh8 G T 8: 99,757,656 (GRCm39) H647Q probably damaging Het
Cdk1 A T 10: 69,174,377 (GRCm39) L282Q probably damaging Het
Ceacam3 A G 7: 16,893,902 (GRCm39) D471G probably damaging Het
Ciao2b A T 8: 105,367,620 (GRCm39) I108N possibly damaging Het
Cltc A T 11: 86,648,105 (GRCm39) I4N probably benign Het
Cntfr T A 4: 41,658,816 (GRCm39) E305V probably damaging Het
Cwh43 T A 5: 73,591,653 (GRCm39) I496N probably damaging Het
Cyp2f2 A G 7: 26,829,149 (GRCm39) N218S probably benign Het
D16Ertd472e A G 16: 78,343,392 (GRCm39) probably null Het
Dab2 A G 15: 6,459,351 (GRCm39) Q400R possibly damaging Het
Dapl1 A T 2: 59,326,906 (GRCm39) I51F probably benign Het
Drc7 G A 8: 95,800,960 (GRCm39) probably null Het
Etl4 A G 2: 20,811,219 (GRCm39) T1101A probably damaging Het
Fam83c C A 2: 155,671,971 (GRCm39) R488M possibly damaging Het
Fbxo42 A G 4: 140,927,840 (GRCm39) T707A probably damaging Het
Fcmr A T 1: 130,803,922 (GRCm39) probably null Het
Fer1l6 G C 15: 58,518,930 (GRCm39) K1687N probably damaging Het
Fgd4 G A 16: 16,292,893 (GRCm39) R275* probably null Het
Fxr2 G A 11: 69,532,139 (GRCm39) C87Y possibly damaging Het
Gja4 A T 4: 127,206,472 (GRCm39) I97N probably damaging Het
Gm136 A G 4: 34,750,919 (GRCm39) probably null Het
Gm14496 A G 2: 181,642,837 (GRCm39) D836G possibly damaging Het
Grm3 T A 5: 9,561,520 (GRCm39) T777S probably damaging Het
Guca2b A G 4: 119,514,912 (GRCm39) Y50H probably damaging Het
Herc2 C T 7: 55,786,415 (GRCm39) P1587S probably benign Het
Hmcn1 C T 1: 150,545,309 (GRCm39) S2766N probably benign Het
Idi2 T A 13: 9,009,455 (GRCm39) I224K probably damaging Het
Kmt2a A T 9: 44,735,666 (GRCm39) probably benign Het
Lonp2 A T 8: 87,440,078 (GRCm39) M693L possibly damaging Het
Megf8 G T 7: 25,046,172 (GRCm39) M1525I possibly damaging Het
Mgme1 T C 2: 144,121,018 (GRCm39) V276A possibly damaging Het
Mief2 G T 11: 60,622,234 (GRCm39) W268L probably damaging Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mreg T C 1: 72,231,356 (GRCm39) N34S probably benign Het
Myf6 T C 10: 107,330,534 (GRCm39) Y11C probably damaging Het
Myh9 C A 15: 77,655,367 (GRCm39) Q1196H probably benign Het
Myh9 A T 15: 77,660,099 (GRCm39) D56E probably benign Het
Myo5c A T 9: 75,184,357 (GRCm39) R949S probably benign Het
Ncapg2 TAA TA 12: 116,398,305 (GRCm39) probably null Het
Nfx1 T A 4: 40,977,004 (GRCm39) V226E probably benign Het
Nlrp10 T A 7: 108,523,737 (GRCm39) K581M possibly damaging Het
Nmd3 T G 3: 69,647,317 (GRCm39) I273S probably benign Het
Or4c3 A T 2: 89,852,314 (GRCm39) I32N possibly damaging Het
P4hb T C 11: 120,462,442 (GRCm39) E88G probably damaging Het
Pcnx3 A T 19: 5,715,773 (GRCm39) H1444Q probably benign Het
Pdia4 A T 6: 47,776,133 (GRCm39) F421L possibly damaging Het
Picalm T A 7: 89,840,459 (GRCm39) S538T probably damaging Het
Ppp2r2b T A 18: 43,192,275 (GRCm39) I11F probably benign Het
Prb1c A G 6: 132,339,969 (GRCm39) probably null Het
Rbm22 T G 18: 60,694,340 (GRCm39) C24W probably damaging Het
Rev3l A G 10: 39,682,658 (GRCm39) D288G probably damaging Het
Rgs18 T A 1: 144,629,791 (GRCm39) H156L probably benign Het
Rnf213 A G 11: 119,333,405 (GRCm39) I2871M probably damaging Het
Rrm2b A T 15: 37,945,328 (GRCm39) M137K probably damaging Het
Rrp12 A T 19: 41,857,224 (GRCm39) D1183E probably benign Het
Sacs G A 14: 61,441,277 (GRCm39) V1108M probably damaging Het
Scube2 A T 7: 109,442,421 (GRCm39) D270E possibly damaging Het
Serpina3a T A 12: 104,082,737 (GRCm39) F170Y probably damaging Het
Serpinb3b T C 1: 107,082,403 (GRCm39) E287G probably benign Het
Slamf8 C T 1: 172,412,186 (GRCm39) V130M probably damaging Het
Slc5a3 T C 16: 91,874,284 (GRCm39) S114P possibly damaging Het
Sos1 T A 17: 80,730,108 (GRCm39) probably null Het
Sox10 A T 15: 79,040,660 (GRCm39) D293E probably damaging Het
Sphk1 A G 11: 116,426,596 (GRCm39) D177G probably damaging Het
Sphkap T G 1: 83,256,121 (GRCm39) M543L probably benign Het
Syt13 A T 2: 92,783,760 (GRCm39) K343N probably damaging Het
Tatdn3 A G 1: 190,792,373 (GRCm39) M34T probably benign Het
Timd4 T G 11: 46,732,989 (GRCm39) V305G possibly damaging Het
Tnnc2 T C 2: 164,619,512 (GRCm39) I111V probably benign Het
Togaram2 C T 17: 72,004,846 (GRCm39) P301L probably benign Het
Trpc3 T C 3: 36,694,776 (GRCm39) N726S probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ugt1a5 T A 1: 88,093,805 (GRCm39) probably benign Het
Ulk3 A T 9: 57,500,443 (GRCm39) probably null Het
Unc5d T A 8: 29,250,777 (GRCm39) I297L probably benign Het
Usp20 A G 2: 30,908,830 (GRCm39) I804V probably benign Het
Usp22 G T 11: 61,052,144 (GRCm39) C278* probably null Het
Usp53 A T 3: 122,727,872 (GRCm39) N903K probably benign Het
V1rd19 T C 7: 23,702,812 (GRCm39) F93L probably benign Het
Zdbf2 T A 1: 63,343,493 (GRCm39) V624E possibly damaging Het
Zfyve16 A T 13: 92,645,528 (GRCm39) S1073T probably damaging Het
Zkscan8 T C 13: 21,710,765 (GRCm39) H115R possibly 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
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
R2937:Ptk7 UTSW 17 46,883,476 (GRCm39) missense probably damaging 0.99
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'- ACCTCAGCCCATTACCCAGACTT -3'
(R):5'- TGCAGCCAGCCCCTAAGCC -3'

Sequencing Primer
(F):5'- GACTTAAAAACCAGTGTCCTGC -3'
(R):5'- ATTGGACTCAAGTTGGCAGG -3'
Posted On 2014-04-24