Incidental Mutation 'R2472:Ptk7'
ID 253191
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 # R2472 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 46875397-46940430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46887774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 553 (T553A)
Ref Sequence ENSEMBL: ENSMUSP00000043703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044442]
AlphaFold Q8BKG3
Predicted Effect probably benign
Transcript: ENSMUST00000044442
AA Change: T553A

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972
AA Change: T553A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,583,316 (GRCm39) S291P probably damaging Het
Cbln3 T C 14: 56,121,538 (GRCm39) E36G possibly damaging Het
Cdcp1 A G 9: 123,014,172 (GRCm39) F201L probably benign Het
Crispld1 A T 1: 17,816,052 (GRCm39) R142S probably null Het
Dsc2 T A 18: 20,178,526 (GRCm39) M293L probably benign Het
Dzip3 A T 16: 48,774,150 (GRCm39) S362T possibly damaging Het
Grm4 C T 17: 27,653,649 (GRCm39) C512Y probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
L1td1 C T 4: 98,621,396 (GRCm39) probably benign Het
Nav2 A G 7: 49,058,632 (GRCm39) T252A probably benign Het
Neu3 A C 7: 99,462,614 (GRCm39) S370A probably damaging Het
Nfasc T A 1: 132,515,959 (GRCm39) probably benign Het
Or2o1 T C 11: 49,051,198 (GRCm39) V119A possibly damaging Het
Rap2a T C 14: 120,716,245 (GRCm39) I36T possibly damaging Het
Rinl A C 7: 28,489,803 (GRCm39) D7A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec16a T C 2: 26,329,948 (GRCm39) E689G probably damaging Het
Sec31a T C 5: 100,533,064 (GRCm39) I560M probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Setdb2 G A 14: 59,656,903 (GRCm39) T138I possibly damaging Het
Sgsh G T 11: 119,246,300 (GRCm39) P4Q possibly damaging Het
Slco4a1 G T 2: 180,108,880 (GRCm39) W308L probably damaging Het
Ttn T A 2: 76,611,863 (GRCm39) R17346S possibly damaging Het
Ubxn4 A G 1: 128,200,606 (GRCm39) R366G probably damaging Het
Vmn2r90 T G 17: 17,948,408 (GRCm39) N551K 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
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'- TAGTGAGCAACGGAGCTGTC -3'
(R):5'- TGTTCTGGAGCTGTAAAAGAGG -3'

Sequencing Primer
(F):5'- CGGAAGGTAGGTTGTTACCCC -3'
(R):5'- TAACAGGGGGCTTTGGACCAC -3'
Posted On 2014-12-04