Incidental Mutation 'R2048:Ptk2b'
| ID |
222267 |
| 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 |
040055-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.581)
|
| Stock # |
R2048 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
66390706-66518501 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 66409954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 466
(D466A)
|
| 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
AA Change: D466A
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022622
Gene: ENSMUSG00000059456
AA Change: D466A
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: D466A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000086661
Gene: ENSMUSG00000059456
AA Change: D466A
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: D466A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000106750
Gene: ENSMUSG00000059456
AA Change: D466A
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: D466A
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137008
Gene: ENSMUSG00000059456
AA Change: D466A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.1025 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
G |
9: 70,647,357 (GRCm39) |
D19G |
possibly damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,633,778 (GRCm39) |
K342R |
probably benign |
Het |
| Adk |
A |
G |
14: 21,368,244 (GRCm39) |
N223S |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,289,212 (GRCm39) |
S454G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,984,420 (GRCm39) |
N1901K |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,819,755 (GRCm39) |
T1578A |
probably benign |
Het |
| Ccdc63 |
A |
C |
5: 122,268,350 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
G |
T |
7: 25,176,113 (GRCm39) |
S27Y |
probably benign |
Het |
| Cit |
T |
C |
5: 116,024,872 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,414,825 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
A |
G |
15: 82,676,928 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
A |
T |
5: 137,908,237 (GRCm39) |
V204E |
probably damaging |
Het |
| Cyp51 |
G |
A |
5: 4,136,636 (GRCm39) |
|
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,057,886 (GRCm39) |
D179G |
probably damaging |
Het |
| Epb41l4b |
T |
G |
4: 57,142,866 (GRCm39) |
E96D |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,067,202 (GRCm39) |
E2221G |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,146,169 (GRCm39) |
N597K |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
C |
A |
2: 118,072,197 (GRCm39) |
E195D |
probably damaging |
Het |
| Gm10152 |
T |
C |
7: 144,317,049 (GRCm39) |
F35L |
unknown |
Het |
| Gtpbp6 |
A |
C |
5: 110,254,931 (GRCm39) |
V87G |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,327,002 (GRCm39) |
T176A |
probably damaging |
Het |
| Il12rb2 |
G |
T |
6: 67,337,529 (GRCm39) |
N117K |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,072,680 (GRCm39) |
V734A |
probably benign |
Het |
| Klf7 |
A |
G |
1: 64,117,913 (GRCm39) |
V228A |
possibly damaging |
Het |
| Kng1 |
A |
G |
16: 22,877,354 (GRCm39) |
Y54C |
probably damaging |
Het |
| Lpcat2 |
T |
G |
8: 93,596,471 (GRCm39) |
N169K |
possibly damaging |
Het |
| Magohb |
A |
T |
6: 131,266,385 (GRCm39) |
S40R |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,633,363 (GRCm39) |
D186G |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,469,960 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
G |
16: 48,975,928 (GRCm39) |
D1332G |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,655,332 (GRCm39) |
T1208M |
possibly damaging |
Het |
| Ncor2 |
C |
T |
5: 125,161,996 (GRCm39) |
R426H |
unknown |
Het |
| Nradd |
T |
C |
9: 110,450,697 (GRCm39) |
E160G |
probably benign |
Het |
| Or10u4 |
G |
A |
10: 129,801,861 (GRCm39) |
S230L |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,093,312 (GRCm39) |
M212K |
probably benign |
Het |
| Otog |
A |
T |
7: 45,937,063 (GRCm39) |
T1591S |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,076,140 (GRCm39) |
S389P |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,434,732 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,905,773 (GRCm39) |
I105L |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,153 (GRCm39) |
R217G |
possibly damaging |
Het |
| Poteg |
A |
T |
8: 27,946,774 (GRCm39) |
I159L |
probably benign |
Het |
| Ppargc1a |
A |
G |
5: 51,705,858 (GRCm39) |
F75S |
probably damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,655,785 (GRCm39) |
V394A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Shisa3 |
G |
A |
5: 67,768,651 (GRCm39) |
E184K |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,636,557 (GRCm39) |
H283R |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,311,860 (GRCm39) |
S603G |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tbcd |
G |
T |
11: 121,431,762 (GRCm39) |
C470F |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,333 (GRCm39) |
R674G |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,818,372 (GRCm39) |
C599S |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,252 (GRCm39) |
R302G |
possibly damaging |
Het |
|
| Other mutations in Ptk2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCATACAGAAAACACTTGGC -3'
(R):5'- CACATTGTTTGCCTAGGCTG -3'
Sequencing Primer
(F):5'- CTTATGCATGCCAGGCAAGTG -3'
(R):5'- GCCTAGGCTGGTAATCAAGTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation