Incidental Mutation 'R9059:Ptk7'
| ID |
688889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptk7
|
| Ensembl Gene |
ENSMUSG00000023972 |
| Gene Name |
PTK7 protein tyrosine kinase 7 |
| Synonyms |
8430404F20Rik, mPTK7/CCK4, chz |
| MMRRC Submission |
068885-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46875397-46940430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46877117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 980
(D980E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044442]
|
| AlphaFold |
Q8BKG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044442
AA Change: D980E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043703
Gene: ENSMUSG00000023972
AA Change: D980E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IGc2
|
36 |
100 |
1.48e-6 |
SMART |
|
IGc2
|
133 |
199 |
8.12e-13 |
SMART |
|
IGc2
|
229 |
300 |
5.01e-4 |
SMART |
|
IGc2
|
326 |
390 |
1.96e-6 |
SMART |
|
IG
|
410 |
491 |
6.02e-7 |
SMART |
|
IGc2
|
507 |
569 |
1.19e-10 |
SMART |
|
IGc2
|
596 |
663 |
2.6e-11 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
TyrKc
|
788 |
1053 |
4.34e-115 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele die perinatally with defects in neural tube closure and planar cell polarity in the ear. ENU-induced mutant mice show omphalocele, impaired neural tube, heart and lung development, rib defects, polydactyly, failed eyelid closure and altered cell polarity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
A |
T |
12: 24,124,732 (GRCm39) |
D48E |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,959,850 (GRCm39) |
T101A |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,634,829 (GRCm39) |
S316P |
probably benign |
Het |
| Acta2 |
G |
T |
19: 34,219,155 (GRCm39) |
A349D |
possibly damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,562,692 (GRCm39) |
|
probably null |
Het |
| Ankrd55 |
A |
G |
13: 112,455,073 (GRCm39) |
D57G |
probably damaging |
Het |
| Azin2 |
A |
G |
4: 128,828,440 (GRCm39) |
Y351H |
probably benign |
Het |
| Ccdc142 |
T |
C |
6: 83,079,400 (GRCm39) |
C246R |
probably damaging |
Het |
| Col25a1 |
C |
A |
3: 130,268,499 (GRCm39) |
Q179K |
unknown |
Het |
| Ddx46 |
C |
T |
13: 55,799,921 (GRCm39) |
A277V |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 38,022,798 (GRCm39) |
N792I |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 118,094,578 (GRCm39) |
P830L |
probably benign |
Het |
| Dnah3 |
C |
G |
7: 119,684,368 (GRCm39) |
R252S |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,245,812 (GRCm39) |
D550G |
probably benign |
Het |
| Dph3 |
T |
C |
14: 31,807,384 (GRCm39) |
N31D |
probably benign |
Het |
| Dsg1c |
A |
T |
18: 20,408,306 (GRCm39) |
T452S |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,604,182 (GRCm39) |
M883K |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,642,689 (GRCm39) |
V1104A |
possibly damaging |
Het |
| Epn1 |
T |
G |
7: 5,098,067 (GRCm39) |
S293A |
probably benign |
Het |
| Fggy |
T |
A |
4: 95,688,841 (GRCm39) |
Y318* |
probably null |
Het |
| Hip1 |
A |
G |
5: 135,457,597 (GRCm39) |
L703P |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igf2r |
GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC |
GCAGCCCTCCATAGGCGC |
17: 12,970,180 (GRCm39) |
|
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Larp4 |
A |
G |
15: 99,889,693 (GRCm39) |
E204G |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,645,119 (GRCm39) |
I511T |
|
Het |
| Lingo3 |
G |
T |
10: 80,670,523 (GRCm39) |
T469K |
probably benign |
Het |
| Lrrc30 |
A |
T |
17: 67,938,798 (GRCm39) |
W261R |
probably damaging |
Het |
| Man2b1 |
T |
C |
8: 85,818,155 (GRCm39) |
V442A |
probably damaging |
Het |
| Mroh3 |
T |
A |
1: 136,109,533 (GRCm39) |
R891S |
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,650,606 (GRCm39) |
M1620L |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,668,899 (GRCm39) |
V253A |
possibly damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,277 (GRCm39) |
C139S |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,722 (GRCm39) |
N140Y |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,883,254 (GRCm39) |
V294A |
probably benign |
Het |
| Rdh11 |
T |
A |
12: 79,238,713 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,365,805 (GRCm39) |
L558R |
probably damaging |
Het |
| Slc22a26 |
C |
T |
19: 7,762,559 (GRCm39) |
M460I |
probably benign |
Het |
| Smc1b |
G |
A |
15: 85,004,875 (GRCm39) |
Q400* |
probably null |
Het |
| Spg11 |
T |
C |
2: 121,918,788 (GRCm39) |
E947G |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,876,805 (GRCm39) |
I840V |
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,617,277 (GRCm39) |
T68A |
possibly damaging |
Het |
| Traip |
A |
G |
9: 107,840,549 (GRCm39) |
I273V |
probably benign |
Het |
| Trim30c |
T |
G |
7: 104,031,272 (GRCm39) |
*514C |
probably null |
Het |
| U2surp |
A |
G |
9: 95,363,716 (GRCm39) |
Y615H |
probably damaging |
Het |
|
| Other mutations in Ptk7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Ptk7
|
APN |
17 |
46,885,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01064:Ptk7
|
APN |
17 |
46,884,492 (GRCm39) |
nonsense |
probably null |
|
|
IGL01444:Ptk7
|
APN |
17 |
46,876,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01477:Ptk7
|
APN |
17 |
46,887,806 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01727:Ptk7
|
APN |
17 |
46,883,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01958:Ptk7
|
APN |
17 |
46,890,353 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02496:Ptk7
|
APN |
17 |
46,901,070 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02864:Ptk7
|
APN |
17 |
46,883,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Ptk7
|
UTSW |
17 |
46,883,688 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Ptk7
|
UTSW |
17 |
46,901,238 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1464:Ptk7
|
UTSW |
17 |
46,883,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Ptk7
|
UTSW |
17 |
46,883,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Ptk7
|
UTSW |
17 |
46,883,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Ptk7
|
UTSW |
17 |
46,884,460 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1646:Ptk7
|
UTSW |
17 |
46,897,223 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1846:Ptk7
|
UTSW |
17 |
46,887,416 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1973:Ptk7
|
UTSW |
17 |
46,897,733 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Ptk7
|
UTSW |
17 |
46,877,164 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2155:Ptk7
|
UTSW |
17 |
46,890,543 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2472:Ptk7
|
UTSW |
17 |
46,887,774 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2937:Ptk7
|
UTSW |
17 |
46,883,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3824:Ptk7
|
UTSW |
17 |
46,876,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Ptk7
|
UTSW |
17 |
46,897,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4222:Ptk7
|
UTSW |
17 |
46,885,389 (GRCm39) |
missense |
probably benign |
|
|
R4671:Ptk7
|
UTSW |
17 |
46,885,392 (GRCm39) |
missense |
probably benign |
|
|
R4922:Ptk7
|
UTSW |
17 |
46,887,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5319:Ptk7
|
UTSW |
17 |
46,883,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5993:Ptk7
|
UTSW |
17 |
46,876,296 (GRCm39) |
missense |
probably benign |
|
|
R6254:Ptk7
|
UTSW |
17 |
46,883,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6352:Ptk7
|
UTSW |
17 |
46,887,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6806:Ptk7
|
UTSW |
17 |
46,884,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7338:Ptk7
|
UTSW |
17 |
46,890,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7394:Ptk7
|
UTSW |
17 |
46,902,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Ptk7
|
UTSW |
17 |
46,882,569 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7949:Ptk7
|
UTSW |
17 |
46,897,387 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8773:Ptk7
|
UTSW |
17 |
46,877,193 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9327:Ptk7
|
UTSW |
17 |
46,878,977 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9495:Ptk7
|
UTSW |
17 |
46,887,744 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9514:Ptk7
|
UTSW |
17 |
46,887,744 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9638:Ptk7
|
UTSW |
17 |
46,890,519 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGGTTCGACAGCCCTAAC -3'
(R):5'- TCAGCTTGTGCATTCCCGAG -3'
Sequencing Primer
(F):5'- TAGGTTCGACAGCCCTAACATCTAAG -3'
(R):5'- TCTTTGAAAAAGGCTGGCCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation