Incidental Mutation 'IGL02652:Mertk'
ID 302212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mertk
Ensembl Gene ENSMUSG00000014361
Gene Name MER proto-oncogene tyrosine kinase
Synonyms nmf12, Tyro 12, Nyk, Eyk, Mer
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL02652
Quality Score
Status
Chromosome 2
Chromosomal Location 128540876-128644814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128643190 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q60805
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: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Mertk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01540:Mertk APN 2 128,625,887 (GRCm39) missense probably damaging 1.00
IGL01561:Mertk APN 2 128,578,556 (GRCm39) missense probably damaging 1.00
IGL01873:Mertk APN 2 128,571,195 (GRCm39) missense possibly damaging 0.93
IGL02539:Mertk APN 2 128,643,210 (GRCm39) missense probably damaging 1.00
IGL02962:Mertk APN 2 128,619,374 (GRCm39) missense probably damaging 1.00
IGL03237:Mertk APN 2 128,632,192 (GRCm39) missense probably damaging 1.00
PIT4378001:Mertk UTSW 2 128,624,537 (GRCm39) critical splice donor site probably null
R0118:Mertk UTSW 2 128,601,086 (GRCm39) missense probably damaging 0.99
R0281:Mertk UTSW 2 128,624,541 (GRCm39) splice site probably benign
R0491:Mertk UTSW 2 128,635,027 (GRCm39) critical splice donor site probably null
R0565:Mertk UTSW 2 128,613,403 (GRCm39) missense probably benign 0.20
R0628:Mertk UTSW 2 128,580,233 (GRCm39) missense probably damaging 1.00
R1260:Mertk UTSW 2 128,604,072 (GRCm39) missense probably benign 0.03
R1406:Mertk UTSW 2 128,613,406 (GRCm39) missense probably benign 0.00
R1406:Mertk UTSW 2 128,613,406 (GRCm39) missense probably benign 0.00
R1423:Mertk UTSW 2 128,620,883 (GRCm39) missense probably damaging 1.00
R1523:Mertk UTSW 2 128,632,248 (GRCm39) critical splice donor site probably null
R1539:Mertk UTSW 2 128,624,446 (GRCm39) missense probably benign 0.05
R1680:Mertk UTSW 2 128,643,556 (GRCm39) missense probably benign 0.03
R1770:Mertk UTSW 2 128,592,094 (GRCm39) missense probably benign 0.10
R1832:Mertk UTSW 2 128,604,132 (GRCm39) missense probably benign 0.10
R1870:Mertk UTSW 2 128,643,116 (GRCm39) missense probably benign 0.01
R1959:Mertk UTSW 2 128,601,010 (GRCm39) missense probably damaging 0.98
R2078:Mertk UTSW 2 128,636,378 (GRCm39) missense probably damaging 1.00
R2125:Mertk UTSW 2 128,604,058 (GRCm39) missense probably benign
R2178:Mertk UTSW 2 128,634,984 (GRCm39) missense probably damaging 1.00
R2220:Mertk UTSW 2 128,643,392 (GRCm39) missense probably benign 0.18
R4128:Mertk UTSW 2 128,619,358 (GRCm39) nonsense probably null
R4664:Mertk UTSW 2 128,643,132 (GRCm39) missense probably benign 0.24
R4740:Mertk UTSW 2 128,593,914 (GRCm39) missense probably damaging 1.00
R4822:Mertk UTSW 2 128,643,225 (GRCm39) missense probably benign 0.00
R4839:Mertk UTSW 2 128,624,496 (GRCm39) missense probably damaging 0.97
R4874:Mertk UTSW 2 128,592,079 (GRCm39) missense probably damaging 1.00
R4899:Mertk UTSW 2 128,625,845 (GRCm39) missense probably damaging 1.00
R5010:Mertk UTSW 2 128,625,920 (GRCm39) missense probably benign 0.03
R5128:Mertk UTSW 2 128,580,167 (GRCm39) missense probably damaging 0.97
R5251:Mertk UTSW 2 128,571,375 (GRCm39) missense probably damaging 1.00
R5276:Mertk UTSW 2 128,643,234 (GRCm39) missense possibly damaging 0.87
R5397:Mertk UTSW 2 128,613,384 (GRCm39) missense possibly damaging 0.86
R5575:Mertk UTSW 2 128,578,485 (GRCm39) missense probably damaging 1.00
R5605:Mertk UTSW 2 128,580,227 (GRCm39) missense probably benign 0.43
R5705:Mertk UTSW 2 128,613,321 (GRCm39) missense probably benign 0.00
R5987:Mertk UTSW 2 128,613,294 (GRCm39) missense probably benign 0.01
R6127:Mertk UTSW 2 128,580,211 (GRCm39) missense probably damaging 0.99
R6556:Mertk UTSW 2 128,618,341 (GRCm39) missense probably benign 0.23
R6671:Mertk UTSW 2 128,593,943 (GRCm39) critical splice donor site probably null
R6674:Mertk UTSW 2 128,571,277 (GRCm39) missense probably benign
R6841:Mertk UTSW 2 128,601,150 (GRCm39) splice site probably null
R7153:Mertk UTSW 2 128,578,569 (GRCm39) missense probably damaging 0.99
R7192:Mertk UTSW 2 128,635,028 (GRCm39) splice site probably null
R7225:Mertk UTSW 2 128,643,482 (GRCm39) missense possibly damaging 0.94
R7344:Mertk UTSW 2 128,613,417 (GRCm39) missense probably benign
R7414:Mertk UTSW 2 128,571,313 (GRCm39) missense possibly damaging 0.95
R7883:Mertk UTSW 2 128,618,265 (GRCm39) missense probably benign 0.01
R8000:Mertk UTSW 2 128,613,418 (GRCm39) missense probably benign
R8953:Mertk UTSW 2 128,620,716 (GRCm39) intron probably benign
R9135:Mertk UTSW 2 128,604,035 (GRCm39) missense probably benign 0.23
R9153:Mertk UTSW 2 128,624,487 (GRCm39) missense probably damaging 1.00
R9176:Mertk UTSW 2 128,620,892 (GRCm39) missense possibly damaging 0.62
R9443:Mertk UTSW 2 128,604,029 (GRCm39) missense probably benign 0.00
R9574:Mertk UTSW 2 128,593,880 (GRCm39) missense probably benign 0.03
R9582:Mertk UTSW 2 128,624,527 (GRCm39) missense possibly damaging 0.55
R9616:Mertk UTSW 2 128,643,255 (GRCm39) missense probably benign 0.01
X0067:Mertk UTSW 2 128,571,487 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16