Incidental Mutation 'R1260:Mertk'
| ID | 151570 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Mertk
|
|---|
| Ensembl Gene |
ENSMUSG00000014361 |
|---|
| Gene Name | c-mer proto-oncogene tyrosine kinase |
|---|
| Synonyms | Nyk, nmf12, Tyro 12, Eyk, Mer |
|---|
| MMRRC Submission |
039327-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably non essential (E-score: 0.139)
|
|---|
| Stock # | R1260 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 2 |
|---|
| Chromosomal Location | 128698956-128802894 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to G
at 128762152 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Lysine to Arginine
at position 402
(K402R)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014505
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014505]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014505
AA Change: K402R
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: K402R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
94 |
189 |
8.99e-6 |
SMART |
|
IG
|
198 |
276 |
1.54e-4 |
SMART |
|
FN3
|
279 |
363 |
7.23e-8 |
SMART |
|
FN3
|
379 |
465 |
6.16e-2 |
SMART |
|
transmembrane domain
|
498 |
520 |
N/A |
INTRINSIC |
|
TyrKc
|
582 |
849 |
2.88e-129 |
SMART |
|
|---|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.6%
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations show increased sensitivity to LPS-induced shock, defective phagocytosis of apoptotic cells, lupus-like autoimmunity, degeneration of photoreceptors, decreased platelet aggregation and protection from induced pulmonary thromboembolism and thrombosis. [provided by MGI curators]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl9 |
T |
C |
11: 49,169,544 |
E374G |
probably damaging |
Het |
| Car2 |
G |
A |
3: 14,895,580 |
A133T |
probably damaging |
Het |
| Chmp7 |
C |
T |
14: 69,719,450 |
M336I |
probably benign |
Het |
| Cpa6 |
T |
C |
1: 10,325,319 |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,114,023 |
H462R |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,225,285 |
Q118R |
possibly damaging |
Het |
| Med7 |
C |
G |
11: 46,440,633 |
I18M |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 54,988,451 |
I478F |
probably benign |
Het |
| Olfr116 |
T |
A |
17: 37,623,703 |
T311S |
probably benign |
Het |
| Pdp2 |
T |
C |
8: 104,594,617 |
V366A |
probably damaging |
Het |
| Plin4 |
A |
T |
17: 56,104,348 |
C894* |
probably null |
Het |
| Plxnc1 |
A |
G |
10: 94,831,365 |
V1149A |
probably damaging |
Het |
| Rassf9 |
G |
A |
10: 102,512,585 |
|
probably null |
Het |
| Rfwd3 |
C |
T |
8: 111,288,242 |
R326Q |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,368,682 |
P51S |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 31,151,889 |
D984G |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,826,204 |
S675P |
probably damaging |
Het |
|
|---|
| Other mutations in Mertk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01540:Mertk
|
APN |
2 |
128783967 |
missense |
probably damaging |
1.00 |
|
IGL01561:Mertk
|
APN |
2 |
128736636 |
missense |
probably damaging |
1.00 |
|
IGL01873:Mertk
|
APN |
2 |
128729275 |
missense |
possibly damaging |
0.93 |
|
IGL02539:Mertk
|
APN |
2 |
128801290 |
missense |
probably damaging |
1.00 |
|
IGL02652:Mertk
|
APN |
2 |
128801270 |
missense |
probably benign |
|
|
IGL02962:Mertk
|
APN |
2 |
128777454 |
missense |
probably damaging |
1.00 |
|
IGL03237:Mertk
|
APN |
2 |
128790272 |
missense |
probably damaging |
1.00 |
|
PIT4378001:Mertk
|
UTSW |
2 |
128782617 |
critical splice donor site |
probably null |
|
|
R0118:Mertk
|
UTSW |
2 |
128759166 |
missense |
probably damaging |
0.99 |
|
R0281:Mertk
|
UTSW |
2 |
128782621 |
splice site |
probably benign |
|
|
R0491:Mertk
|
UTSW |
2 |
128793107 |
critical splice donor site |
probably null |
|
|
R0565:Mertk
|
UTSW |
2 |
128771483 |
missense |
probably benign |
0.20 |
|
R0628:Mertk
|
UTSW |
2 |
128738313 |
missense |
probably damaging |
1.00 |
|
R1406:Mertk
|
UTSW |
2 |
128771486 |
missense |
probably benign |
0.00 |
|
R1406:Mertk
|
UTSW |
2 |
128771486 |
missense |
probably benign |
0.00 |
|
R1423:Mertk
|
UTSW |
2 |
128778963 |
missense |
probably damaging |
1.00 |
|
R1523:Mertk
|
UTSW |
2 |
128790328 |
critical splice donor site |
probably null |
|
|
R1539:Mertk
|
UTSW |
2 |
128782526 |
missense |
probably benign |
0.05 |
|
R1680:Mertk
|
UTSW |
2 |
128801636 |
missense |
probably benign |
0.03 |
|
R1770:Mertk
|
UTSW |
2 |
128750174 |
missense |
probably benign |
0.10 |
|
R1832:Mertk
|
UTSW |
2 |
128762212 |
missense |
probably benign |
0.10 |
|
R1870:Mertk
|
UTSW |
2 |
128801196 |
missense |
probably benign |
0.01 |
|
R1959:Mertk
|
UTSW |
2 |
128759090 |
missense |
probably damaging |
0.98 |
|
R2078:Mertk
|
UTSW |
2 |
128794458 |
missense |
probably damaging |
1.00 |
|
R2125:Mertk
|
UTSW |
2 |
128762138 |
missense |
probably benign |
|
|
R2178:Mertk
|
UTSW |
2 |
128793064 |
missense |
probably damaging |
1.00 |
|
R2220:Mertk
|
UTSW |
2 |
128801472 |
missense |
probably benign |
0.18 |
|
R4128:Mertk
|
UTSW |
2 |
128777438 |
nonsense |
probably null |
|
|
R4664:Mertk
|
UTSW |
2 |
128801212 |
missense |
probably benign |
0.24 |
|
R4740:Mertk
|
UTSW |
2 |
128751994 |
missense |
probably damaging |
1.00 |
|
R4822:Mertk
|
UTSW |
2 |
128801305 |
missense |
probably benign |
0.00 |
|
R4839:Mertk
|
UTSW |
2 |
128782576 |
missense |
probably damaging |
0.97 |
|
R4874:Mertk
|
UTSW |
2 |
128750159 |
missense |
probably damaging |
1.00 |
|
R4899:Mertk
|
UTSW |
2 |
128783925 |
missense |
probably damaging |
1.00 |
|
R5010:Mertk
|
UTSW |
2 |
128784000 |
missense |
probably benign |
0.03 |
|
R5128:Mertk
|
UTSW |
2 |
128738247 |
missense |
probably damaging |
0.97 |
|
R5251:Mertk
|
UTSW |
2 |
128729455 |
missense |
probably damaging |
1.00 |
|
R5276:Mertk
|
UTSW |
2 |
128801314 |
missense |
possibly damaging |
0.87 |
|
R5397:Mertk
|
UTSW |
2 |
128771464 |
missense |
possibly damaging |
0.86 |
|
R5575:Mertk
|
UTSW |
2 |
128736565 |
missense |
probably damaging |
1.00 |
|
R5605:Mertk
|
UTSW |
2 |
128738307 |
missense |
probably benign |
0.43 |
|
R5705:Mertk
|
UTSW |
2 |
128771401 |
missense |
probably benign |
0.00 |
|
R5987:Mertk
|
UTSW |
2 |
128771374 |
missense |
probably benign |
0.01 |
|
R6127:Mertk
|
UTSW |
2 |
128738291 |
missense |
probably damaging |
0.99 |
|
R6556:Mertk
|
UTSW |
2 |
128776421 |
missense |
probably benign |
0.23 |
|
R6671:Mertk
|
UTSW |
2 |
128752023 |
critical splice donor site |
probably null |
|
|
R6674:Mertk
|
UTSW |
2 |
128729357 |
missense |
probably benign |
|
|
R6841:Mertk
|
UTSW |
2 |
128759230 |
splice site |
probably null |
|
|
R7153:Mertk
|
UTSW |
2 |
128736649 |
missense |
probably damaging |
0.99 |
|
R7192:Mertk
|
UTSW |
2 |
128793108 |
splice site |
probably null |
|
|
R7225:Mertk
|
UTSW |
2 |
128801562 |
missense |
possibly damaging |
0.94 |
|
R7344:Mertk
|
UTSW |
2 |
128771497 |
missense |
probably benign |
|
|
R7414:Mertk
|
UTSW |
2 |
128729393 |
missense |
possibly damaging |
0.95 |
|
R7883:Mertk
|
UTSW |
2 |
128776345 |
missense |
probably benign |
0.01 |
|
R8000:Mertk
|
UTSW |
2 |
128771498 |
missense |
probably benign |
|
|
X0067:Mertk
|
UTSW |
2 |
128729567 |
missense |
probably damaging |
1.00 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- TCATGAGGACTCTCTTGCCTAGACC -3'
(R):5'- GTGCCTTGCCTTGCTCAATGATAAC -3'
Sequencing Primer
(F):5'- gctgacatcaaattcatagagatcc -3'
(R):5'- GCCTTGCTCAATGATAACAAGTG -3'
|
|---|
| Posted On | 2014-01-29 |
|---|
