Incidental Mutation 'R6027:Ptk2'
| ID |
480134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptk2
|
| Ensembl Gene |
ENSMUSG00000022607 |
| Gene Name |
PTK2 protein tyrosine kinase 2 |
| Synonyms |
FAK, FRNK, Fadk |
| MMRRC Submission |
044199-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6027 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
73076951-73295129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73101762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 816
(Q816L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110036]
[ENSMUST00000170939]
[ENSMUST00000226988]
[ENSMUST00000227395]
[ENSMUST00000227686]
|
| AlphaFold |
P34152 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110036
AA Change: Q816L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105663
Gene: ENSMUSG00000022607
AA Change: Q816L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
31 |
258 |
1.49e-39 |
SMART |
|
Blast:B41
|
288 |
333 |
1e-19 |
BLAST |
|
TyrKc
|
422 |
676 |
1.11e-130 |
SMART |
|
low complexity region
|
686 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
883 |
N/A |
INTRINSIC |
|
Pfam:Focal_AT
|
914 |
1046 |
5e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170939
AA Change: Q816L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126764
Gene: ENSMUSG00000022607
AA Change: Q816L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
31 |
258 |
1.49e-39 |
SMART |
|
Blast:B41
|
287 |
333 |
1e-19 |
BLAST |
|
TyrKc
|
422 |
676 |
1.11e-130 |
SMART |
|
low complexity region
|
686 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
712 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
883 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226742
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226988
AA Change: Q816L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228628
|
| Meta Mutation Damage Score |
0.2674 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (68/68) |
| 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 found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene, but the full-length natures of only four of them have been determined. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele die before or during organogenesis with growth retardation, abnormal embryonic and extra embryonic tissue development, and abnormal vascular development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,289,003 (GRCm39) |
V2299A |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,303,661 (GRCm39) |
D28G |
probably benign |
Het |
| Adamts6 |
G |
A |
13: 104,616,043 (GRCm39) |
G1035D |
probably damaging |
Het |
| Adamts7 |
A |
C |
9: 90,073,078 (GRCm39) |
Y755S |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,791,528 (GRCm39) |
T763A |
possibly damaging |
Het |
| Armc9 |
G |
C |
1: 86,172,389 (GRCm39) |
L105F |
probably damaging |
Het |
| Asah2 |
T |
C |
19: 32,022,351 (GRCm39) |
N228D |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Aspm |
T |
G |
1: 139,390,794 (GRCm39) |
V693G |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,965,771 (GRCm39) |
E1141G |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,563,860 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,453,739 (GRCm39) |
D3475N |
unknown |
Het |
| Dctn5 |
T |
C |
7: 121,732,564 (GRCm39) |
|
probably benign |
Het |
| Dhrs4 |
A |
G |
14: 55,723,580 (GRCm39) |
K18E |
probably benign |
Het |
| Eci2 |
A |
T |
13: 35,169,930 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,851,922 (GRCm39) |
F319L |
probably benign |
Het |
| Elane |
A |
T |
10: 79,722,852 (GRCm39) |
H86L |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,268,893 (GRCm39) |
Y197* |
probably null |
Het |
| Eno4 |
A |
G |
19: 58,935,262 (GRCm39) |
D158G |
probably damaging |
Het |
| Fam217a |
T |
A |
13: 35,094,977 (GRCm39) |
T170S |
possibly damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,883,950 (GRCm39) |
D517G |
probably damaging |
Het |
| Fkbp3 |
G |
T |
12: 65,120,692 (GRCm39) |
A2E |
possibly damaging |
Het |
| Gan |
A |
G |
8: 117,885,034 (GRCm39) |
Y54C |
probably damaging |
Het |
| Gdap1l1 |
T |
A |
2: 163,293,531 (GRCm39) |
N194K |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,269,087 (GRCm39) |
T597A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,678,646 (GRCm39) |
S492P |
possibly damaging |
Het |
| Hmox1 |
C |
A |
8: 75,823,499 (GRCm39) |
H56N |
probably damaging |
Het |
| Kank3 |
C |
T |
17: 34,037,088 (GRCm39) |
P131S |
possibly damaging |
Het |
| Kif14 |
T |
C |
1: 136,410,797 (GRCm39) |
|
probably null |
Het |
| Kif1a |
A |
T |
1: 92,953,365 (GRCm39) |
M1274K |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,907,299 (GRCm39) |
|
probably null |
Het |
| Man2b1 |
C |
T |
8: 85,823,381 (GRCm39) |
T905I |
probably damaging |
Het |
| Mmp15 |
C |
A |
8: 96,098,804 (GRCm39) |
H544N |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,208,259 (GRCm39) |
N1933K |
probably benign |
Het |
| Ndst4 |
G |
T |
3: 125,507,025 (GRCm39) |
A730S |
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,315,053 (GRCm39) |
Q238* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,965,563 (GRCm39) |
P1716S |
possibly damaging |
Het |
| Or13c7c |
A |
G |
4: 43,835,842 (GRCm39) |
V216A |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8k38 |
T |
G |
2: 86,488,148 (GRCm39) |
Y218S |
probably damaging |
Het |
| P2ry6 |
T |
G |
7: 100,587,715 (GRCm39) |
M215L |
probably benign |
Het |
| Parp4 |
G |
A |
14: 56,866,615 (GRCm39) |
E1060K |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,183,509 (GRCm39) |
I822V |
possibly damaging |
Het |
| Pira13 |
T |
C |
7: 3,827,638 (GRCm39) |
Y173C |
possibly damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,866,272 (GRCm39) |
G528* |
probably null |
Het |
| Ptprg |
T |
C |
14: 12,220,613 (GRCm38) |
F442L |
possibly damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,187 (GRCm39) |
Y68H |
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,545,274 (GRCm39) |
W458R |
probably damaging |
Het |
| Ros1 |
G |
T |
10: 52,040,064 (GRCm39) |
T309N |
possibly damaging |
Het |
| Rps27a |
T |
C |
11: 29,497,808 (GRCm39) |
|
probably benign |
Het |
| Sarm1 |
T |
A |
11: 78,374,384 (GRCm39) |
M577L |
probably benign |
Het |
| Scin |
T |
C |
12: 40,127,515 (GRCm39) |
Y425C |
probably damaging |
Het |
| Serpina12 |
T |
A |
12: 103,997,336 (GRCm39) |
Y395F |
probably benign |
Het |
| Sfxn2 |
T |
A |
19: 46,571,291 (GRCm39) |
Y69* |
probably null |
Het |
| Skint6 |
T |
C |
4: 112,953,761 (GRCm39) |
|
probably null |
Het |
| Slc7a1 |
A |
C |
5: 148,270,774 (GRCm39) |
I564S |
possibly damaging |
Het |
| Smc6 |
T |
A |
12: 11,356,179 (GRCm39) |
Y933N |
probably benign |
Het |
| Sp110 |
T |
C |
1: 85,505,039 (GRCm39) |
S438G |
possibly damaging |
Het |
| St8sia4 |
T |
A |
1: 95,581,399 (GRCm39) |
R114S |
probably damaging |
Het |
| Trim11 |
C |
T |
11: 58,869,289 (GRCm39) |
A75V |
possibly damaging |
Het |
| Tufm |
T |
A |
7: 126,086,920 (GRCm39) |
H68Q |
probably damaging |
Het |
| Ythdc2 |
T |
A |
18: 44,993,503 (GRCm39) |
D194E |
probably benign |
Het |
|
| Other mutations in Ptk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Ptk2
|
APN |
15 |
73,134,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00913:Ptk2
|
APN |
15 |
73,167,238 (GRCm39) |
splice site |
probably benign |
|
|
IGL01605:Ptk2
|
APN |
15 |
73,136,188 (GRCm39) |
splice site |
probably benign |
|
|
IGL01631:Ptk2
|
APN |
15 |
73,088,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01952:Ptk2
|
APN |
15 |
73,101,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01957:Ptk2
|
APN |
15 |
73,114,322 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02441:Ptk2
|
APN |
15 |
73,192,675 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02471:Ptk2
|
APN |
15 |
73,170,036 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02621:Ptk2
|
APN |
15 |
73,077,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03198:Ptk2
|
APN |
15 |
73,108,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Shooter
|
UTSW |
15 |
73,176,293 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0239:Ptk2
|
UTSW |
15 |
73,215,132 (GRCm39) |
splice site |
probably null |
|
|
R0239:Ptk2
|
UTSW |
15 |
73,215,132 (GRCm39) |
splice site |
probably null |
|
|
R1254:Ptk2
|
UTSW |
15 |
73,101,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1291:Ptk2
|
UTSW |
15 |
73,082,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1307:Ptk2
|
UTSW |
15 |
73,163,895 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1608:Ptk2
|
UTSW |
15 |
73,134,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1690:Ptk2
|
UTSW |
15 |
73,134,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1724:Ptk2
|
UTSW |
15 |
73,114,255 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1725:Ptk2
|
UTSW |
15 |
73,114,255 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1740:Ptk2
|
UTSW |
15 |
73,114,255 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1741:Ptk2
|
UTSW |
15 |
73,114,255 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1840:Ptk2
|
UTSW |
15 |
73,082,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Ptk2
|
UTSW |
15 |
73,087,832 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2022:Ptk2
|
UTSW |
15 |
73,114,255 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2092:Ptk2
|
UTSW |
15 |
73,108,040 (GRCm39) |
nonsense |
probably null |
|
|
R2114:Ptk2
|
UTSW |
15 |
73,114,255 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2115:Ptk2
|
UTSW |
15 |
73,114,255 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2336:Ptk2
|
UTSW |
15 |
73,137,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2571:Ptk2
|
UTSW |
15 |
73,103,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4232:Ptk2
|
UTSW |
15 |
73,181,698 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4245:Ptk2
|
UTSW |
15 |
73,103,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4594:Ptk2
|
UTSW |
15 |
73,078,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Ptk2
|
UTSW |
15 |
73,078,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Ptk2
|
UTSW |
15 |
73,087,945 (GRCm39) |
splice site |
probably null |
|
|
R4847:Ptk2
|
UTSW |
15 |
73,103,805 (GRCm39) |
missense |
probably benign |
|
|
R5558:Ptk2
|
UTSW |
15 |
73,176,294 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5682:Ptk2
|
UTSW |
15 |
73,134,413 (GRCm39) |
nonsense |
probably null |
|
|
R5858:Ptk2
|
UTSW |
15 |
73,192,944 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5951:Ptk2
|
UTSW |
15 |
73,175,682 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6014:Ptk2
|
UTSW |
15 |
73,176,293 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6082:Ptk2
|
UTSW |
15 |
73,148,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7031:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7032:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7077:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7078:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7079:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7090:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7091:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7092:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7136:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7137:Ptk2
|
UTSW |
15 |
73,093,658 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7798:Ptk2
|
UTSW |
15 |
73,167,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Ptk2
|
UTSW |
15 |
73,170,048 (GRCm39) |
frame shift |
probably null |
|
|
R8235:Ptk2
|
UTSW |
15 |
73,215,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9106:Ptk2
|
UTSW |
15 |
73,131,457 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9160:Ptk2
|
UTSW |
15 |
73,087,933 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9301:Ptk2
|
UTSW |
15 |
73,146,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Ptk2
|
UTSW |
15 |
73,215,041 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACTAGCACTGAAGTTCTGTG -3'
(R):5'- TCTCAGCCTTCAGAGAGGTG -3'
Sequencing Primer
(F):5'- CACTAGCACTGAAGTTCTGTGAAAAC -3'
(R):5'- CCTTCAGAGAGGTGGCTGGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation