Incidental Mutation 'IGL02652:Mertk'
ID302212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mertk
Ensembl Gene ENSMUSG00000014361
Gene Namec-mer proto-oncogene tyrosine kinase
SynonymsNyk, nmf12, Tyro 12, Eyk, Mer
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL02652
Quality Score
Status
Chromosome2
Chromosomal Location128698956-128802894 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 128801270 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 863 (E863G)
Ref Sequence ENSEMBL: ENSMUSP00000014505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014505]
Predicted Effect probably benign
Transcript: ENSMUST00000014505
AA Change: E863G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: E863G

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140221
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 67,884,800 D139E probably benign Het
Asph C T 4: 9,529,984 V347I probably benign Het
Ccdc138 A T 10: 58,513,079 D149V probably benign Het
Cep192 A G 18: 67,858,850 probably benign Het
Cnnm2 G A 19: 46,763,211 R480Q probably damaging Het
Col24a1 C A 3: 145,492,301 S1321* probably null Het
Cops6 T G 5: 138,161,438 probably null Het
Crim1 G A 17: 78,315,677 A435T probably damaging Het
Cttn G T 7: 144,441,731 Q382K probably benign Het
Dhx38 A G 8: 109,556,129 L635P probably damaging Het
Dmtf1 T A 5: 9,121,853 T458S probably benign Het
Dnah5 T C 15: 28,366,187 F2682S probably damaging Het
Dnah6 T A 6: 73,095,104 Q2413L probably damaging Het
Dock10 T C 1: 80,592,844 probably null Het
Engase C T 11: 118,478,950 P63S probably damaging Het
Grik4 A G 9: 42,675,277 V94A possibly damaging Het
Heatr6 T C 11: 83,769,732 V566A probably damaging Het
Hydin A C 8: 110,589,522 T4349P possibly damaging Het
Inpp4b G A 8: 81,770,800 probably benign Het
Muc19 T A 15: 91,877,815 noncoding transcript Het
Myo9a T A 9: 59,863,928 F928I probably damaging Het
Nyap2 T C 1: 81,241,720 Y486H probably damaging Het
Oas1e T C 5: 120,795,405 R32G probably damaging Het
Olfr113 A T 17: 37,574,945 Y159* probably null Het
Olfr1298 A G 2: 111,645,494 F168L probably benign Het
Osbpl6 G A 2: 76,593,454 R848Q probably damaging Het
Piezo2 G A 18: 63,024,475 T2388I probably damaging Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Ptpn12 T C 5: 21,002,437 K308E probably benign Het
Rgsl1 A G 1: 153,825,490 L441P probably damaging Het
Rictor T C 15: 6,776,187 probably null Het
Scn2a T A 2: 65,702,038 S665T possibly damaging Het
Scn8a A G 15: 101,013,476 I926V probably damaging Het
Snrpg T C 6: 86,376,528 I30T probably damaging Het
Spryd3 A T 15: 102,118,990 probably null Het
Svil A G 18: 5,114,531 D2036G probably damaging Het
Synj2 A T 17: 6,017,593 I551F probably damaging Het
Tiam2 A T 17: 3,439,696 probably benign Het
Tmem132b T C 5: 125,787,575 F915S probably damaging Het
Try5 C A 6: 41,311,408 V204L probably benign Het
Vmn2r6 T C 3: 64,556,328 T362A probably benign Het
Other mutations in Mertk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R1260:Mertk UTSW 2 128762152 missense probably benign 0.03
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
Posted On2015-04-16