Incidental Mutation 'R7225:Mertk'
ID 562078
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 045297-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R7225 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 128540876-128644814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 128643482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 960 (N960K)
Ref Sequence ENSEMBL: ENSMUSP00000014505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014505]
AlphaFold Q60805
Predicted Effect possibly damaging
Transcript: ENSMUST00000014505
AA Change: N960K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361
AA Change: N960K

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 0.0814 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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
1700001K19Rik T C 12: 110,637,299 (GRCm39) probably benign Het
5730480H06Rik T A 5: 48,537,575 (GRCm39) probably null Het
Actn4 A T 7: 28,598,124 (GRCm39) V492D probably damaging Het
Alpk2 T C 18: 65,438,270 (GRCm39) E1041G probably benign Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Cd22 C T 7: 30,577,059 (GRCm39) A83T not run Het
Cdan1 T C 2: 120,555,393 (GRCm39) T783A probably benign Het
Cdh9 C T 15: 16,856,159 (GRCm39) S733F probably damaging Het
Cfap54 A G 10: 92,740,236 (GRCm39) F2282S unknown Het
Chst9 T C 18: 15,585,718 (GRCm39) K282E probably damaging Het
Clcn1 G A 6: 42,270,396 (GRCm39) D232N probably damaging Het
Clpb T A 7: 101,360,672 (GRCm39) L234Q probably damaging Het
Cluh T G 11: 74,557,232 (GRCm39) probably null Het
Cnp C T 11: 100,471,413 (GRCm39) Q352* probably null Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Dtx3 C T 10: 127,027,358 (GRCm39) C272Y probably damaging Het
Dync2h1 A G 9: 7,142,756 (GRCm39) I1156T probably benign Het
Epg5 T A 18: 78,055,917 (GRCm39) V1697E probably benign Het
Exoc3l4 A G 12: 111,390,058 (GRCm39) D211G probably benign Het
Fank1 A G 7: 133,454,988 (GRCm39) K36R probably benign Het
Fat4 T C 3: 39,034,325 (GRCm39) I2659T possibly damaging Het
Fer1l5 T C 1: 36,460,033 (GRCm39) W1893R possibly damaging Het
Gorasp2 T A 2: 70,514,391 (GRCm39) L256Q probably damaging Het
Gpc5 T G 14: 115,789,710 (GRCm39) V528G probably damaging Het
Gria2 T A 3: 80,709,938 (GRCm39) probably benign Het
Htatip2 A G 7: 49,420,604 (GRCm39) E150G possibly damaging Het
Jak3 C A 8: 72,138,155 (GRCm39) Q869K probably benign Het
Jmjd1c T C 10: 67,061,844 (GRCm39) V1218A probably benign Het
Kcnf1 A G 12: 17,225,694 (GRCm39) C176R possibly damaging Het
Kcnq4 A G 4: 120,604,111 (GRCm39) V88A probably benign Het
Lmod3 T A 6: 97,224,345 (GRCm39) D492V probably benign Het
Lurap1l A C 4: 80,829,718 (GRCm39) S43R probably benign Het
Mamdc4 T C 2: 25,455,558 (GRCm39) H890R possibly damaging Het
Nudt9 C A 5: 104,212,966 (GRCm39) D346E probably benign Het
Obi1 T C 14: 104,717,294 (GRCm39) T360A probably benign Het
Opa1 A G 16: 29,432,857 (GRCm39) probably null Het
Or5an1 A T 19: 12,260,831 (GRCm39) T140S probably benign Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Paxbp1 T C 16: 90,823,956 (GRCm39) E564G probably damaging Het
Pcdhb13 C T 18: 37,577,490 (GRCm39) R623C possibly damaging Het
Pkhd1l1 G T 15: 44,410,337 (GRCm39) V2615F probably damaging Het
Plin3 T C 17: 56,593,541 (GRCm39) T58A possibly damaging Het
Por A G 5: 135,761,441 (GRCm39) D309G probably benign Het
Ppp2r5e T C 12: 75,515,353 (GRCm39) K261R probably damaging Het
Ptpn18 C T 1: 34,511,927 (GRCm39) T366I possibly damaging Het
Ptprz1 G A 6: 23,000,928 (GRCm39) G1006E possibly damaging Het
Rpl12 C T 2: 32,851,909 (GRCm39) probably benign Het
Rpsa T G 9: 119,960,222 (GRCm39) F262V probably benign Het
Sh3pxd2a G T 19: 47,255,828 (GRCm39) N991K probably damaging Het
Shank2 T A 7: 143,838,762 (GRCm39) N19K probably benign Het
Sik1 T C 17: 32,073,274 (GRCm39) T61A probably benign Het
Sipa1l3 A C 7: 29,098,853 (GRCm39) V472G probably damaging Het
Sirt6 A G 10: 81,458,315 (GRCm39) S313P probably benign Het
Slc12a7 A G 13: 73,912,081 (GRCm39) probably benign Het
Sox13 A T 1: 133,314,862 (GRCm39) V266E probably benign Het
Spag9 T C 11: 93,988,184 (GRCm39) C833R probably damaging Het
Tcof1 T C 18: 60,961,520 (GRCm39) T812A unknown Het
Tnfsf4 A G 1: 161,244,821 (GRCm39) D170G possibly damaging Het
Tshz3 A G 7: 36,469,082 (GRCm39) N357S probably damaging Het
Txk C T 5: 72,858,057 (GRCm39) D418N probably damaging Het
Ube2j2 A G 4: 156,033,773 (GRCm39) probably null Het
Vmn2r84 G A 10: 130,222,552 (GRCm39) P556L probably damaging Het
Zfp1007 T C 5: 109,825,015 (GRCm39) H145R possibly damaging Het
Zfp442 T C 2: 150,250,925 (GRCm39) N326D 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
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
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'- GACCCTGACTCCATCATTGC -3'
(R):5'- TGTCCGGCCATGAACTCTAC -3'

Sequencing Primer
(F):5'- TCTTGCACACCAGGCGC -3'
(R):5'- ATAGGTGCCATTTCCCAGAGTGC -3'
Posted On 2019-06-26