Incidental Mutation 'R5935:Ptk2b'
ID 462213
Institutional Source Beutler Lab
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
MMRRC Submission 044129-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.573) question?
Stock # R5935 (G1)
Quality Score 175
Status Validated
Chromosome 14
Chromosomal Location 66390706-66518501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66411328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 401 (I401T)
Ref Sequence ENSEMBL: ENSMUSP00000137008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022622] [ENSMUST00000089250] [ENSMUST00000111121] [ENSMUST00000178730]
AlphaFold Q9QVP9
Predicted Effect probably damaging
Transcript: ENSMUST00000022622
AA Change: I401T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456
AA Change: I401T

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 damaging
Transcript: ENSMUST00000089250
AA Change: I401T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456
AA Change: I401T

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: I401T

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106750
Gene: ENSMUSG00000059456
AA Change: I401T

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 damaging
Transcript: ENSMUST00000178730
AA Change: I401T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456
AA Change: I401T

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
Meta Mutation Damage Score 0.2286 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (92/96)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b C G 8: 43,974,335 (GRCm39) M222I probably benign Het
Ahnak T C 19: 8,992,546 (GRCm39) V4610A possibly damaging Het
Ankrd13c C T 3: 157,653,220 (GRCm39) silent Het
Cables2 A G 2: 179,903,841 (GRCm39) probably benign Het
Cabp2 C A 19: 4,136,497 (GRCm39) A181D probably damaging Het
Camsap3 A G 8: 3,651,999 (GRCm39) D265G probably damaging Het
Cbs G T 17: 31,851,853 (GRCm39) T50N probably damaging Het
Cenpa A T 5: 30,830,381 (GRCm39) Q83L possibly damaging Het
Cit A T 5: 116,063,598 (GRCm39) probably benign Het
Ckap5 A G 2: 91,445,445 (GRCm39) E1694G possibly damaging Het
Copz1 A T 15: 103,203,197 (GRCm39) M104L probably benign Het
Crot T A 5: 9,024,192 (GRCm39) M335L probably benign Het
Ctnna2 T C 6: 77,120,904 (GRCm39) D373G probably benign Het
Ctu2 G A 8: 123,203,693 (GRCm39) probably benign Het
Cyp3a59 T A 5: 146,027,455 (GRCm39) Y75* probably null Het
Dbi A G 1: 120,048,583 (GRCm39) I21T probably benign Het
Dcun1d3 A G 7: 119,458,799 (GRCm39) S79P probably benign Het
Dock10 T A 1: 80,483,304 (GRCm39) probably benign Het
Dstyk T A 1: 132,381,875 (GRCm39) I543N probably damaging Het
Epx G T 11: 87,756,318 (GRCm39) A621E probably damaging Het
Farp2 G A 1: 93,548,367 (GRCm39) probably null Het
Gm11992 C T 11: 9,002,711 (GRCm39) P25S probably damaging Het
Grik5 A T 7: 24,758,502 (GRCm39) M307K possibly damaging Het
Hnf1b A T 11: 83,773,503 (GRCm39) N234I probably damaging Het
Htr2a A G 14: 74,882,530 (GRCm39) D172G probably damaging Het
Ifit1bl2 T C 19: 34,597,128 (GRCm39) T163A probably benign Het
Igsf10 A T 3: 59,235,578 (GRCm39) D1534E probably benign Het
Il3ra T G 14: 14,350,799 (GRCm38) V178G probably damaging Het
Itgb1 A T 8: 129,439,718 (GRCm39) K136* probably null Het
Itprid1 A T 6: 55,874,754 (GRCm39) R235* probably null Het
Lama2 T A 10: 26,891,494 (GRCm39) I2540F probably benign Het
Lrp8 C A 4: 107,714,493 (GRCm39) H622Q probably damaging Het
Lrrc2 T A 9: 110,795,629 (GRCm39) M138K probably benign Het
Lrrk2 C A 15: 91,630,034 (GRCm39) H1242N probably benign Het
Lsm11 G C 11: 45,835,445 (GRCm39) R99G probably benign Het
Mif4gd C T 11: 115,500,439 (GRCm39) V40M probably benign Het
Mpp3 A T 11: 101,916,241 (GRCm39) V37D probably damaging Het
Mre11a T A 9: 14,698,258 (GRCm39) D35E probably damaging Het
Mroh4 C A 15: 74,493,003 (GRCm39) V233F probably damaging Het
Npy2r A T 3: 82,448,068 (GRCm39) S123T possibly damaging Het
Nrip2 A G 6: 128,385,361 (GRCm39) Y264C possibly damaging Het
Obscn A G 11: 58,897,639 (GRCm39) S6639P unknown Het
Or10d4 C T 9: 39,580,386 (GRCm39) T11I probably benign Het
Or51t4 T A 7: 102,598,017 (GRCm39) F105Y probably benign Het
Osbpl5 C T 7: 143,310,695 (GRCm39) probably benign Het
Panx1 A T 9: 14,921,513 (GRCm39) Y121N probably damaging Het
Pcdhb8 A G 18: 37,489,243 (GRCm39) D307G probably damaging Het
Pde1b A G 15: 103,429,866 (GRCm39) K120E possibly damaging Het
Pdzrn4 T C 15: 92,295,255 (GRCm39) S154P probably benign Het
Ppp1r13b T C 12: 111,796,876 (GRCm39) K889R probably benign Het
Ppp4r3a T A 12: 101,017,872 (GRCm39) D439V probably damaging Het
Rab24 T C 13: 55,468,343 (GRCm39) T153A probably damaging Het
Rarb C A 14: 16,434,264 (GRCm38) A305S probably damaging Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Scn10a G A 9: 119,456,237 (GRCm39) T1194I probably damaging Het
Scn3a G T 2: 65,295,180 (GRCm39) N1514K probably damaging Het
Serpinb3d T C 1: 107,011,105 (GRCm39) T36A probably benign Het
Shisa5 T A 9: 108,885,751 (GRCm39) M229K possibly damaging Het
Sik2 C T 9: 50,828,431 (GRCm39) G204R probably damaging Het
Sla C T 15: 66,665,554 (GRCm39) G46E probably damaging Het
Slc35g3 A T 11: 69,652,509 (GRCm39) M1K probably null Het
Slc5a7 A T 17: 54,583,972 (GRCm39) Y439* probably null Het
Slc9a1 T C 4: 133,147,176 (GRCm39) probably benign Het
Slitrk6 T G 14: 110,987,305 (GRCm39) T801P probably benign Het
Spata31d1c T C 13: 65,184,894 (GRCm39) V812A possibly damaging Het
Spata31g1 T C 4: 42,971,465 (GRCm39) L230P probably benign Het
Spef1l G A 7: 139,556,526 (GRCm39) H154Y probably benign Het
Sphkap A C 1: 83,317,320 (GRCm39) L59R probably damaging Het
Spmip8 A T 8: 96,046,620 (GRCm39) T98S possibly damaging Het
Srsf10 C A 4: 135,583,553 (GRCm39) R6S probably damaging Het
Supt5 T A 7: 28,028,900 (GRCm39) R131S probably benign Het
Syne1 T C 10: 5,310,706 (GRCm39) probably null Het
Tet2 T A 3: 133,194,296 (GRCm39) H46L possibly damaging Het
Tnfsf4 T A 1: 161,244,819 (GRCm39) N169K probably damaging Het
Tprg1 A T 16: 25,136,011 (GRCm39) M1L possibly damaging Het
Tsen2 A G 6: 115,536,556 (GRCm39) Y104C probably damaging Het
Ttc6 A G 12: 57,720,590 (GRCm39) Y952C probably damaging Het
Umod A T 7: 119,070,650 (GRCm39) I414N probably damaging Het
Usp10 G T 8: 120,673,828 (GRCm39) V398L possibly damaging Het
Vmn2r23 A T 6: 123,718,854 (GRCm39) I736F possibly damaging Het
Vmn2r65 C A 7: 84,592,869 (GRCm39) G446V probably benign Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Yars2 A G 16: 16,127,335 (GRCm39) I467V probably benign Het
Ykt6 A G 11: 5,909,338 (GRCm39) E49G possibly damaging Het
Zan T A 5: 137,442,192 (GRCm39) M1907L unknown Het
Zdhhc2 T C 8: 40,917,277 (GRCm39) S225P probably damaging Het
Zfc3h1 A T 10: 115,267,262 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCCAAACCAAGGGTTCCTC -3'
(R):5'- AAGCTAAGTGTCCCTGACTGTG -3'

Sequencing Primer
(F):5'- TTCTCTGAGCACATGAAAATGAGG -3'
(R):5'- GACTGTGTGGCTTCCTTGAATCC -3'
Posted On 2017-02-28