Incidental Mutation 'IGL01346:Ptk2b'
ID 75052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptk2b
Ensembl Gene ENSMUSG00000059456
Gene Name PTK2 protein tyrosine kinase 2 beta
Synonyms proline-rich tyrosine kinase 2, related adhesion focal tyrosine kinase, cellular adhesion kinase beta, PYK2, CAKbeta, Raftk, calcium-dependent tyrosine kinase, E430023O05Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.581) question?
Stock # IGL01346
Quality Score
Status
Chromosome 14
Chromosomal Location 66390706-66518501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66414567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 311 (L311P)
Ref Sequence ENSEMBL: ENSMUSP00000086661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000111121] [ENSMUST00000178730]
AlphaFold Q9QVP9
Predicted Effect probably benign
Transcript: ENSMUST00000022622
AA Change: L311P

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456
AA Change: L311P

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 870 1008 1.7e-67 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000089250
AA Change: L311P

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456
AA Change: L311P

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 828 966 2e-68 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111121
AA Change: L311P

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106750
Gene: ENSMUSG00000059456
AA Change: L311P

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 866 1004 1.1e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127083
Predicted Effect probably benign
Transcript: ENSMUST00000178730
AA Change: L311P

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456
AA Change: L311P

DomainStartEndE-ValueType
B41 35 265 1.33e-45 SMART
TyrKc 425 679 1.46e-139 SMART
low complexity region 713 726 N/A INTRINSIC
Pfam:Focal_AT 870 1002 2.1e-55 PFAM
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 cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show alterations in endothelial nitric oxide synthase-mediated vascular function and angiogenic responses. Mice homozygous for a second knock-out allele exhibit multiple defects in macrophage migration and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null Het
Other mutations in Ptk2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Ptk2b APN 14 66,396,062 (GRCm39) missense probably benign 0.00
IGL02121:Ptk2b APN 14 66,450,931 (GRCm39) missense probably benign 0.12
IGL02505:Ptk2b APN 14 66,391,692 (GRCm39) missense probably damaging 1.00
IGL03036:Ptk2b APN 14 66,411,344 (GRCm39) splice site probably benign
IGL03343:Ptk2b APN 14 66,406,870 (GRCm39) missense probably benign 0.10
FR4548:Ptk2b UTSW 14 66,411,298 (GRCm39) missense possibly damaging 0.95
FR4737:Ptk2b UTSW 14 66,411,298 (GRCm39) missense possibly damaging 0.95
R0217:Ptk2b UTSW 14 66,393,830 (GRCm39) missense probably damaging 1.00
R0478:Ptk2b UTSW 14 66,450,821 (GRCm39) missense probably damaging 1.00
R0556:Ptk2b UTSW 14 66,409,593 (GRCm39) missense probably damaging 1.00
R0631:Ptk2b UTSW 14 66,415,200 (GRCm39) missense probably damaging 0.96
R0946:Ptk2b UTSW 14 66,396,047 (GRCm39) missense probably benign 0.02
R1502:Ptk2b UTSW 14 66,400,529 (GRCm39) missense possibly damaging 0.95
R1583:Ptk2b UTSW 14 66,400,563 (GRCm39) missense possibly damaging 0.75
R1876:Ptk2b UTSW 14 66,395,841 (GRCm39) missense probably benign 0.01
R1905:Ptk2b UTSW 14 66,396,119 (GRCm39) missense probably damaging 1.00
R1942:Ptk2b UTSW 14 66,406,830 (GRCm39) missense probably damaging 1.00
R2048:Ptk2b UTSW 14 66,409,954 (GRCm39) missense probably benign 0.28
R2377:Ptk2b UTSW 14 66,409,997 (GRCm39) missense possibly damaging 0.56
R3021:Ptk2b UTSW 14 66,415,632 (GRCm39) splice site probably null
R3793:Ptk2b UTSW 14 66,407,700 (GRCm39) missense probably damaging 1.00
R3836:Ptk2b UTSW 14 66,393,791 (GRCm39) missense probably damaging 1.00
R3911:Ptk2b UTSW 14 66,394,517 (GRCm39) missense possibly damaging 0.83
R4654:Ptk2b UTSW 14 66,400,496 (GRCm39) missense possibly damaging 0.86
R4690:Ptk2b UTSW 14 66,410,749 (GRCm39) splice site probably null
R4691:Ptk2b UTSW 14 66,394,518 (GRCm39) missense probably benign 0.16
R4692:Ptk2b UTSW 14 66,394,518 (GRCm39) missense probably benign 0.16
R4693:Ptk2b UTSW 14 66,394,518 (GRCm39) missense probably benign 0.16
R4847:Ptk2b UTSW 14 66,411,331 (GRCm39) missense probably damaging 1.00
R5176:Ptk2b UTSW 14 66,393,864 (GRCm39) missense probably damaging 1.00
R5297:Ptk2b UTSW 14 66,409,966 (GRCm39) missense probably benign 0.04
R5603:Ptk2b UTSW 14 66,409,514 (GRCm39) nonsense probably null
R5935:Ptk2b UTSW 14 66,411,328 (GRCm39) missense probably damaging 1.00
R6245:Ptk2b UTSW 14 66,400,515 (GRCm39) missense probably damaging 1.00
R6313:Ptk2b UTSW 14 66,416,280 (GRCm39) missense probably damaging 1.00
R6476:Ptk2b UTSW 14 66,424,923 (GRCm39) missense possibly damaging 0.81
R6858:Ptk2b UTSW 14 66,450,847 (GRCm39) missense probably damaging 1.00
R7235:Ptk2b UTSW 14 66,394,536 (GRCm39) nonsense probably null
R7511:Ptk2b UTSW 14 66,391,693 (GRCm39) missense possibly damaging 0.81
R7558:Ptk2b UTSW 14 66,391,628 (GRCm39) missense possibly damaging 0.83
R7838:Ptk2b UTSW 14 66,395,850 (GRCm39) missense probably benign
R8520:Ptk2b UTSW 14 66,412,204 (GRCm39) missense probably damaging 1.00
R8672:Ptk2b UTSW 14 66,393,841 (GRCm39) missense probably benign 0.40
R8888:Ptk2b UTSW 14 66,412,242 (GRCm39) missense probably benign
R8895:Ptk2b UTSW 14 66,412,242 (GRCm39) missense probably benign
R8940:Ptk2b UTSW 14 66,407,685 (GRCm39) critical splice donor site probably null
R9164:Ptk2b UTSW 14 66,404,222 (GRCm39) missense possibly damaging 0.94
R9168:Ptk2b UTSW 14 66,424,899 (GRCm39) missense probably damaging 0.99
R9285:Ptk2b UTSW 14 66,410,844 (GRCm39) missense possibly damaging 0.67
R9346:Ptk2b UTSW 14 66,415,541 (GRCm39) missense possibly damaging 0.66
R9442:Ptk2b UTSW 14 66,409,189 (GRCm39) missense probably damaging 1.00
R9581:Ptk2b UTSW 14 66,450,789 (GRCm39) missense probably damaging 1.00
R9649:Ptk2b UTSW 14 66,413,154 (GRCm39) nonsense probably null
R9666:Ptk2b UTSW 14 66,409,546 (GRCm39) missense probably damaging 1.00
X0054:Ptk2b UTSW 14 66,450,777 (GRCm39) missense probably benign 0.15
Y5405:Ptk2b UTSW 14 66,391,543 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07