Incidental Mutation 'R0118:Mertk'
ID 20907
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 038404-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R0118 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 128540876-128644814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128601086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 357 (R357W)
Ref Sequence ENSEMBL: ENSMUSP00000014505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014505]
AlphaFold Q60805
Predicted Effect probably damaging
Transcript: ENSMUST00000014505
AA Change: R357W

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: R357W

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.2%
  • 10x: 89.3%
  • 20x: 67.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T C 9: 30,823,040 (GRCm39) R343G probably damaging Het
Asxl2 T G 12: 3,546,923 (GRCm39) V569G probably damaging Het
Azin2 A C 4: 128,843,430 (GRCm39) H85Q probably damaging Het
Cacna1a C T 8: 85,262,712 (GRCm39) R324C probably damaging Het
Ccr3 C A 9: 123,829,647 (GRCm39) Y327* probably null Het
Cers2 T C 3: 95,227,537 (GRCm39) F55S probably benign Het
Cic C T 7: 24,985,459 (GRCm39) S301L probably damaging Het
Cntnap2 T C 6: 45,037,326 (GRCm39) probably null Het
Cpn2 T C 16: 30,079,186 (GRCm39) R172G probably benign Het
Ctdnep1 T C 11: 69,879,557 (GRCm39) probably null Het
Dennd3 T A 15: 73,436,925 (GRCm39) Y1051N probably damaging Het
Dmap1 T G 4: 117,533,680 (GRCm39) Y196S probably damaging Het
Entpd7 G A 19: 43,692,751 (GRCm39) W102* probably null Het
Frem2 A T 3: 53,442,664 (GRCm39) C2624* probably null Het
Gdpd3 A G 7: 126,370,165 (GRCm39) Y238C probably damaging Het
Gjb3 A G 4: 127,220,451 (GRCm39) V27A probably damaging Het
Kat6b T C 14: 21,720,042 (GRCm39) F1465L probably damaging Het
Klra17 A T 6: 129,808,552 (GRCm39) M227K probably benign Het
Map6 A G 7: 98,966,824 (GRCm39) D348G possibly damaging Het
Mapkbp1 T C 2: 119,855,696 (GRCm39) S1472P probably benign Het
Megf6 C A 4: 154,339,098 (GRCm39) P545Q probably damaging Het
Mesd T A 7: 83,544,835 (GRCm39) I104N probably damaging Het
Mrm3 T A 11: 76,140,781 (GRCm39) V263E possibly damaging Het
Ndst4 T A 3: 125,405,210 (GRCm39) Y488* probably null Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nfs1 T C 2: 155,976,444 (GRCm39) H150R probably damaging Het
Odad3 A T 9: 21,906,353 (GRCm39) N224K probably benign Het
Or1n1b A G 2: 36,780,035 (GRCm39) M275T probably benign Het
Or8b56 T C 9: 38,739,154 (GRCm39) S50P possibly damaging Het
Or8g19 T A 9: 39,055,399 (GRCm39) M1K probably null Het
Or9q1 A G 19: 13,804,929 (GRCm39) F277S possibly damaging Het
Pcdh8 T C 14: 80,004,848 (GRCm39) Y1059C probably damaging Het
Pik3r5 T A 11: 68,381,306 (GRCm39) L164Q probably damaging Het
Polr3g T C 13: 81,824,240 (GRCm39) probably benign Het
Ppm1e T A 11: 87,122,564 (GRCm39) K464N probably benign Het
Rims1 T C 1: 22,416,631 (GRCm39) T1037A probably damaging Het
Rpgrip1l A T 8: 91,996,750 (GRCm39) I108N probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Spem1 T C 11: 69,712,371 (GRCm39) K98E possibly damaging Het
St7l T C 3: 104,796,619 (GRCm39) V237A probably damaging Het
Tbc1d16 T C 11: 119,048,642 (GRCm39) H337R probably damaging Het
Tbc1d32 T A 10: 55,893,701 (GRCm39) I1291F probably benign Het
Tnfaip6 G T 2: 51,933,827 (GRCm39) E61* probably null Het
Trib2 A T 12: 15,843,929 (GRCm39) W102R probably damaging Het
Uimc1 G T 13: 55,233,457 (GRCm39) N66K probably damaging Het
Vmn1r63 T A 7: 5,805,838 (GRCm39) T265S probably benign Het
Vps35 G A 8: 86,021,582 (GRCm39) T3I probably benign Het
Yeats2 T A 16: 19,975,692 (GRCm39) L63* probably null Het
Zfp282 A G 6: 47,869,866 (GRCm39) R304G 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCAGCACAGAGGAAGGGCTAC -3'
(R):5'- ACTGGCTTTAAAAGTGTTGCCGC -3'

Sequencing Primer
(F):5'- ACATCTGCGTGCCCAAGTC -3'
(R):5'- cacccgactgctcttcc -3'
Posted On 2013-04-11