Incidental Mutation 'IGL03036:Ptk2b'
ID 408702
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 # IGL03036
Quality Score
Status
Chromosome 14
Chromosomal Location 66390706-66518501 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 66411344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000111121] [ENSMUST00000178730]
AlphaFold Q9QVP9
Predicted Effect probably benign
Transcript: ENSMUST00000022622
SMART Domains Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456

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 probably benign
Transcript: ENSMUST00000089250
SMART Domains Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456

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 probably benign
Transcript: ENSMUST00000111121
SMART Domains Protein: ENSMUSP00000106750
Gene: ENSMUSG00000059456

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: ENSMUST00000154865
SMART Domains Protein: ENSMUSP00000122683
Gene: ENSMUSG00000059456

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 83 8.5e-27 PFAM
low complexity region 117 130 N/A INTRINSIC
Pfam:Focal_AT 243 375 5e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178730
SMART Domains Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,421,534 (GRCm39) Y145* probably null Het
Afdn T G 17: 14,108,350 (GRCm39) I1291S probably benign Het
Arfgap3 T G 15: 83,191,127 (GRCm39) I16L possibly damaging Het
Bbs12 T A 3: 37,373,343 (GRCm39) H45Q possibly damaging Het
Brpf3 T C 17: 29,043,022 (GRCm39) L1021P possibly damaging Het
Cep170 A G 1: 176,596,903 (GRCm39) S485P possibly damaging Het
Cgref1 A T 5: 31,090,937 (GRCm39) N292K probably damaging Het
Chst3 A T 10: 60,022,261 (GRCm39) Y195* probably null Het
Clmn T C 12: 104,740,782 (GRCm39) Y125C probably damaging Het
Col13a1 A G 10: 61,729,692 (GRCm39) probably null Het
Cpeb3 A T 19: 37,002,348 (GRCm39) I688N probably damaging Het
Cpn2 A T 16: 30,079,647 (GRCm39) L18H probably benign Het
Crybg3 T A 16: 59,375,542 (GRCm39) H1904L possibly damaging Het
Csde1 C T 3: 102,951,155 (GRCm39) P249S probably damaging Het
Dcaf1 T C 9: 106,721,339 (GRCm39) L377P probably damaging Het
Dmwd A T 7: 18,815,054 (GRCm39) K568M probably damaging Het
Dsg2 T C 18: 20,712,134 (GRCm39) I90T probably damaging Het
Dytn A G 1: 63,680,281 (GRCm39) I426T probably damaging Het
Edc4 G A 8: 106,613,943 (GRCm39) probably null Het
Elac1 G T 18: 73,871,985 (GRCm39) Q337K probably benign Het
Exd2 G T 12: 80,536,185 (GRCm39) A272S probably damaging Het
F13b A G 1: 139,435,853 (GRCm39) I220V possibly damaging Het
Fblim1 G T 4: 141,310,435 (GRCm39) R276S possibly damaging Het
Fn1 A C 1: 71,668,932 (GRCm39) L671R probably damaging Het
Frem1 A T 4: 82,877,576 (GRCm39) F1334I possibly damaging Het
H2-T23 T A 17: 36,343,249 (GRCm39) I43F possibly damaging Het
Hp1bp3 G A 4: 137,956,043 (GRCm39) G202D probably damaging Het
Kdm5b A G 1: 134,536,675 (GRCm39) M632V probably damaging Het
Klra5 T A 6: 129,885,830 (GRCm39) S20C probably damaging Het
Lancl1 A T 1: 67,046,074 (GRCm39) C276S probably damaging Het
Lect2 A G 13: 56,690,520 (GRCm39) *152Q probably null Het
Maff C A 15: 79,241,658 (GRCm39) S25* probably null Het
Mtr A G 13: 12,262,263 (GRCm39) L171P probably damaging Het
Ndufs1 A T 1: 63,202,855 (GRCm39) Y236* probably null Het
Neb A C 2: 52,134,165 (GRCm39) Y3273D probably damaging Het
Nup133 A T 8: 124,673,333 (GRCm39) I66K probably benign Het
Or4c110 T C 2: 88,832,459 (GRCm39) M58V possibly damaging Het
Psmd14 A G 2: 61,614,205 (GRCm39) Y200C probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rabl6 C T 2: 25,474,868 (GRCm39) G614D probably benign Het
Ripk3 T C 14: 56,024,796 (GRCm39) D128G probably benign Het
Serinc4 A T 2: 121,270,039 (GRCm39) probably benign Het
Slco1a8 T G 6: 141,954,333 (GRCm39) I47L possibly damaging Het
Sorbs2 T C 8: 46,235,902 (GRCm39) S322P probably benign Het
Spmap2l A C 5: 77,164,197 (GRCm39) K67Q possibly damaging Het
Srebf1 A T 11: 60,111,284 (GRCm39) I29N possibly damaging Het
Stk38l T C 6: 146,670,372 (GRCm39) L238S probably damaging Het
Supt20 T A 3: 54,616,723 (GRCm39) C298* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Ulk2 A T 11: 61,725,660 (GRCm39) L139M probably damaging Het
Unc13b A G 4: 43,235,249 (GRCm39) N3279S probably damaging Het
Ush2a A G 1: 188,596,818 (GRCm39) R3853G possibly damaging Het
Usp7 C T 16: 8,556,078 (GRCm39) M24I probably benign Het
Vil1 A G 1: 74,458,771 (GRCm39) T131A probably damaging Het
Vmn2r2 C T 3: 64,024,321 (GRCm39) M753I probably benign Het
Vmn2r74 A T 7: 85,601,900 (GRCm39) Y579* probably null Het
Zdhhc3 A T 9: 122,929,582 (GRCm39) Y18N probably damaging Het
Zfp609 C T 9: 65,609,927 (GRCm39) S1012N possibly damaging Het
Zfr2 A T 10: 81,077,985 (GRCm39) M271L probably benign Het
Other mutations in Ptk2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Ptk2b APN 14 66,414,567 (GRCm39) missense possibly damaging 0.54
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
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 2016-08-02