Incidental Mutation 'R2220:Mertk'
ID 241401
Institutional Source Beutler Lab
Gene Symbol Mertk
Ensembl Gene ENSMUSG00000014361
Gene Name MER proto-oncogene tyrosine kinase
Synonyms nmf12, Tyro 12, Nyk, Eyk, Mer
MMRRC Submission 040222-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R2220 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 128540876-128644814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128643392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 930 (N930K)
Ref Sequence ENSEMBL: ENSMUSP00000014505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014505]
AlphaFold Q60805
Predicted Effect probably benign
Transcript: ENSMUST00000014505
AA Change: N930K

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: N930K

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,344,572 (GRCm39) I116T probably damaging Het
Aatk G T 11: 119,903,003 (GRCm39) F407L probably damaging Het
Abca8a A T 11: 109,917,681 (GRCm39) L1586Q probably damaging Het
Aox1 A G 1: 58,388,289 (GRCm39) probably null Het
Ap5m1 A G 14: 49,318,552 (GRCm39) D420G probably damaging Het
Bcl6 A T 16: 23,791,382 (GRCm39) L324* probably null Het
Bicc1 A G 10: 70,785,955 (GRCm39) S396P probably damaging Het
Bltp1 T C 3: 36,929,679 (GRCm39) probably null Het
Ccdc83 G A 7: 89,908,722 (GRCm39) S4L probably damaging Het
Cdkal1 T A 13: 29,538,741 (GRCm39) M473L probably benign Het
Cep85 T C 4: 133,881,178 (GRCm39) H363R probably damaging Het
Cfap61 G A 2: 145,878,736 (GRCm39) probably null Het
Cfap65 T C 1: 74,943,184 (GRCm39) I1614V probably damaging Het
Cluh T A 11: 74,557,947 (GRCm39) F1062I probably damaging Het
Cntnap5a A T 1: 116,508,369 (GRCm39) T1294S possibly damaging Het
Cops8 A C 1: 90,534,341 (GRCm39) N94T probably benign Het
Csmd1 T C 8: 16,042,641 (GRCm39) D2364G possibly damaging Het
Cyb5d1 T C 11: 69,285,871 (GRCm39) D55G probably benign Het
Cyp2c29 A T 19: 39,275,676 (GRCm39) I39F probably benign Het
Cyp2j8 T C 4: 96,332,862 (GRCm39) S495G probably benign Het
Dhx30 A G 9: 109,916,703 (GRCm39) L575P probably damaging Het
Dnah7a C T 1: 53,560,333 (GRCm39) V2113I probably benign Het
Dusp3 T C 11: 101,865,631 (GRCm39) N95D probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fer1l4 T G 2: 155,873,684 (GRCm39) Y1207S probably damaging Het
Flg2 T G 3: 93,109,492 (GRCm39) S507A unknown Het
Gdf6 A G 4: 9,844,770 (GRCm39) H98R probably damaging Het
Ggnbp2 T C 11: 84,727,439 (GRCm39) N63S possibly damaging Het
Ggt7 A G 2: 155,337,639 (GRCm39) S504P probably damaging Het
Gtf2h5 G A 17: 6,134,853 (GRCm39) E48K probably benign Het
Hivep3 T G 4: 119,591,235 (GRCm39) V81G possibly damaging Het
Igsf21 A G 4: 139,755,425 (GRCm39) M410T probably damaging Het
Insrr T C 3: 87,716,725 (GRCm39) L651P probably damaging Het
Iqcb1 A T 16: 36,663,824 (GRCm39) probably null Het
Klhdc7a G A 4: 139,692,764 (GRCm39) R728C probably benign Het
Lars2 T C 9: 123,247,845 (GRCm39) L334P probably damaging Het
Mast3 T C 8: 71,233,607 (GRCm39) E994G probably damaging Het
Mettl21a A T 1: 64,655,442 (GRCm39) V46E probably damaging Het
Nedd4 T A 9: 72,643,989 (GRCm39) C614S probably damaging Het
Or13a19 T C 7: 139,903,484 (GRCm39) S291P probably benign Het
Or2l13b A T 16: 19,348,895 (GRCm39) Y258* probably null Het
Or5k1 G T 16: 58,617,987 (GRCm39) A74D possibly damaging Het
Pard3b C T 1: 62,518,842 (GRCm39) R976* probably null Het
Pcdhb16 A G 18: 37,612,020 (GRCm39) T327A probably benign Het
Pira12 A T 7: 3,900,488 (GRCm39) N87K probably benign Het
Ppp1r37 C A 7: 19,266,371 (GRCm39) R465L probably null Het
Ppp3ca C A 3: 136,503,685 (GRCm39) T86K probably damaging Het
Ralgapa2 G A 2: 146,263,599 (GRCm39) T706I probably benign Het
Rnf213 T C 11: 119,327,254 (GRCm39) L1747P possibly damaging Het
Slc11a1 T A 1: 74,419,824 (GRCm39) F166I probably damaging Het
Slc25a18 G A 6: 120,770,518 (GRCm39) probably null Het
Stt3a A G 9: 36,660,847 (GRCm39) probably null Het
Supt16 G A 14: 52,409,601 (GRCm39) R770* probably null Het
Syde2 A G 3: 145,707,713 (GRCm39) I551V probably benign Het
Tasor2 A T 13: 3,631,872 (GRCm39) N876K probably benign Het
Tecta T C 9: 42,303,326 (GRCm39) D102G probably damaging Het
Tmc7 A T 7: 118,152,039 (GRCm39) I294N possibly damaging Het
Tmem174 T C 13: 98,773,767 (GRCm39) Y21C probably damaging Het
Tomm40l A T 1: 171,049,550 (GRCm39) L13* probably null Het
Trim30c A G 7: 104,032,474 (GRCm39) V284A probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Uggt2 A T 14: 119,312,749 (GRCm39) N353K probably damaging Het
Vps13d C T 4: 144,904,890 (GRCm39) V79M probably damaging Het
Wfdc18 C T 11: 83,600,739 (GRCm39) R45* probably null 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
IGL02652:Mertk APN 2 128,643,190 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGCGCAGGACAAAGAATCC -3'
(R):5'- ACTTCAGAGTCTTCCAAGGAGTC -3'

Sequencing Primer
(F):5'- ATCAATACCCAGTTGCTAGAGAG -3'
(R):5'- GAGTCTTCCAAGGAGTCATCTAC -3'
Posted On 2014-10-15