Incidental Mutation 'PIT4378001:Mertk'
ID 554968
Institutional Source Beutler Lab
Gene Symbol Mertk
Ensembl Gene ENSMUSG00000014361
Gene Name c-mer proto-oncogene tyrosine kinase
Synonyms Nyk, nmf12, Tyro 12, Eyk, Mer
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # PIT4378001 (G1)
Quality Score 209.009
Status Not validated
Chromosome 2
Chromosomal Location 128698956-128802894 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 128782617 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000014505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014505]
AlphaFold Q60805
Predicted Effect probably null
Transcript: ENSMUST00000014505
SMART Domains Protein: ENSMUSP00000014505
Gene: ENSMUSG00000014361

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
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.0%
  • 20x: 72.2%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,015,207 (GRCm38) L14P probably damaging Het
2310033P09Rik T C 11: 59,208,976 (GRCm38) V100A probably benign Het
9530053A07Rik G A 7: 28,154,464 (GRCm38) D1618N possibly damaging Het
Adamtsl1 T C 4: 86,199,364 (GRCm38) V188A possibly damaging Het
Aldh6a1 T C 12: 84,441,872 (GRCm38) D80G probably benign Het
Ankrd50 T C 3: 38,455,263 (GRCm38) Q62R possibly damaging Het
Arrdc1 T A 2: 24,926,633 (GRCm38) Y177F probably damaging Het
Asap1 C T 15: 64,135,848 (GRCm38) R384Q probably damaging Het
Atxn2l A T 7: 126,497,271 (GRCm38) V433D probably benign Het
Bbs1 G A 19: 4,891,675 (GRCm38) A529V probably benign Het
Bbx G A 16: 50,280,473 (GRCm38) R20* probably null Het
Bend5 T C 4: 111,431,107 (GRCm38) V106A probably benign Het
C1galt1 A G 6: 7,863,944 (GRCm38) N8S probably benign Het
Cdc42ep1 G A 15: 78,849,680 (GRCm38) D327N possibly damaging Het
Cep162 A G 9: 87,217,145 (GRCm38) S767P probably benign Het
Csmd1 T C 8: 15,895,728 (GRCm38) T3562A probably damaging Het
Dnah7a A G 1: 53,531,203 (GRCm38) S1815P probably damaging Het
Ei24 A T 9: 36,786,024 (GRCm38) L136Q probably damaging Het
Extl2 T G 3: 116,010,690 (GRCm38) M1R probably null Het
Fam160a1 A G 3: 85,730,551 (GRCm38) L147P probably damaging Het
Fat3 T C 9: 16,376,808 (GRCm38) E473G probably benign Het
Fgfr1op T C 17: 8,182,273 (GRCm38) S209P probably damaging Het
G6pc3 T A 11: 102,190,001 (GRCm38) W26R probably damaging Het
Hc T A 2: 35,031,864 (GRCm38) Y610F probably benign Het
Hecw1 T C 13: 14,377,783 (GRCm38) D77G probably damaging Het
Hgf T C 5: 16,611,862 (GRCm38) V497A probably damaging Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,266,277 (GRCm38) probably benign Het
Hyou1 A C 9: 44,390,851 (GRCm38) D968A probably benign Het
Jmjd1c T A 10: 67,229,913 (GRCm38) S1525T probably damaging Het
Kcnc4 G A 3: 107,447,563 (GRCm38) T523I probably benign Het
Kcng1 C T 2: 168,262,684 (GRCm38) C414Y probably damaging Het
Klhdc10 T C 6: 30,447,412 (GRCm38) I204T probably damaging Het
Krt18 A T 15: 102,029,923 (GRCm38) T194S probably benign Het
Krt76 A C 15: 101,892,407 (GRCm38) N151K probably damaging Het
Krtap31-2 A G 11: 99,936,716 (GRCm38) T125A possibly damaging Het
Lama5 A G 2: 180,189,445 (GRCm38) V1807A possibly damaging Het
Lats1 T G 10: 7,705,605 (GRCm38) V718G probably damaging Het
Mef2b A G 8: 70,164,260 (GRCm38) K4E probably damaging Het
Mroh8 A G 2: 157,228,700 (GRCm38) V577A possibly damaging Het
Mtcl1 T G 17: 66,438,279 (GRCm38) N381T probably damaging Het
Nfyc T A 4: 120,790,491 (GRCm38) probably null Het
Nol4 C A 18: 23,039,876 (GRCm38) W56L probably damaging Het
Notch2 A T 3: 98,142,956 (GRCm38) D1849V probably damaging Het
Olfr1406 T C 1: 173,183,814 (GRCm38) T207A probably benign Het
Olfr1436 A G 19: 12,298,712 (GRCm38) M140T probably damaging Het
Olfr284 A G 15: 98,340,272 (GRCm38) V239A possibly damaging Het
Olfr287 G A 15: 98,207,571 (GRCm38) T271I probably damaging Het
Olfr297 A T 7: 86,527,098 (GRCm38) T114S possibly damaging Het
Olfr733 T C 14: 50,298,898 (GRCm38) N137S probably benign Het
Olfr846 T A 9: 19,361,175 (GRCm38) Y60F probably damaging Het
Oxr1 G A 15: 41,801,582 (GRCm38) V138I probably benign Het
Pars2 A G 4: 106,654,293 (GRCm38) E424G possibly damaging Het
Peli2 C A 14: 48,168,269 (GRCm38) Y50* probably null Het
Plag1 T A 4: 3,905,492 (GRCm38) H66L probably benign Het
Psme4 T C 11: 30,821,079 (GRCm38) probably benign Het
Robo1 A T 16: 73,004,535 (GRCm38) S1016C probably damaging Het
Rrbp1 A G 2: 143,974,540 (GRCm38) V723A probably benign Het
Sgip1 C A 4: 102,921,083 (GRCm38) D292E unknown Het
Skint4 T A 4: 112,087,035 (GRCm38) C23S probably benign Het
Slc22a28 A C 19: 8,071,914 (GRCm38) S323R probably damaging Het
Slc41a3 A G 6: 90,640,909 (GRCm38) T306A probably benign Het
Spata13 A G 14: 60,749,996 (GRCm38) M868V probably damaging Het
Spata6 T G 4: 111,746,181 (GRCm38) I31S possibly damaging Het
Sycp3 A T 10: 88,466,504 (GRCm38) K119* probably null Het
Tlk2 T A 11: 105,281,220 (GRCm38) S739T unknown Het
Trim10 T C 17: 36,877,128 (GRCm38) V412A probably damaging Het
Ttc3 T A 16: 94,410,906 (GRCm38) F377I probably benign Het
Uck1 T A 2: 32,256,034 (GRCm38) H283L probably damaging Het
Unc5a T C 13: 54,995,868 (GRCm38) Y122H possibly damaging Het
Uncx C T 5: 139,544,622 (GRCm38) R152* probably null Het
Usp44 A G 10: 93,845,655 (GRCm38) probably benign Het
Vamp2 A C 11: 69,089,738 (GRCm38) D44A probably benign Het
Vmn2r83 A G 10: 79,469,015 (GRCm38) T20A probably benign Het
Vmn2r84 A T 10: 130,385,915 (GRCm38) I812N probably damaging Het
Vrtn T G 12: 84,649,169 (GRCm38) L231R probably damaging Het
Wdr75 A G 1: 45,820,173 (GRCm38) T677A probably damaging Het
Xylt1 C A 7: 117,548,865 (GRCm38) S221R possibly damaging Het
Zscan22 A G 7: 12,904,056 (GRCm38) E125G possibly damaging Het
Zxdc A T 6: 90,373,716 (GRCm38) H383L probably damaging Het
Other mutations in Mertk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01540:Mertk APN 2 128,783,967 (GRCm38) missense probably damaging 1.00
IGL01561:Mertk APN 2 128,736,636 (GRCm38) missense probably damaging 1.00
IGL01873:Mertk APN 2 128,729,275 (GRCm38) missense possibly damaging 0.93
IGL02539:Mertk APN 2 128,801,290 (GRCm38) missense probably damaging 1.00
IGL02652:Mertk APN 2 128,801,270 (GRCm38) missense probably benign
IGL02962:Mertk APN 2 128,777,454 (GRCm38) missense probably damaging 1.00
IGL03237:Mertk APN 2 128,790,272 (GRCm38) missense probably damaging 1.00
R0118:Mertk UTSW 2 128,759,166 (GRCm38) missense probably damaging 0.99
R0281:Mertk UTSW 2 128,782,621 (GRCm38) splice site probably benign
R0491:Mertk UTSW 2 128,793,107 (GRCm38) critical splice donor site probably null
R0565:Mertk UTSW 2 128,771,483 (GRCm38) missense probably benign 0.20
R0628:Mertk UTSW 2 128,738,313 (GRCm38) missense probably damaging 1.00
R1260:Mertk UTSW 2 128,762,152 (GRCm38) missense probably benign 0.03
R1406:Mertk UTSW 2 128,771,486 (GRCm38) missense probably benign 0.00
R1406:Mertk UTSW 2 128,771,486 (GRCm38) missense probably benign 0.00
R1423:Mertk UTSW 2 128,778,963 (GRCm38) missense probably damaging 1.00
R1523:Mertk UTSW 2 128,790,328 (GRCm38) critical splice donor site probably null
R1539:Mertk UTSW 2 128,782,526 (GRCm38) missense probably benign 0.05
R1680:Mertk UTSW 2 128,801,636 (GRCm38) missense probably benign 0.03
R1770:Mertk UTSW 2 128,750,174 (GRCm38) missense probably benign 0.10
R1832:Mertk UTSW 2 128,762,212 (GRCm38) missense probably benign 0.10
R1870:Mertk UTSW 2 128,801,196 (GRCm38) missense probably benign 0.01
R1959:Mertk UTSW 2 128,759,090 (GRCm38) missense probably damaging 0.98
R2078:Mertk UTSW 2 128,794,458 (GRCm38) missense probably damaging 1.00
R2125:Mertk UTSW 2 128,762,138 (GRCm38) missense probably benign
R2178:Mertk UTSW 2 128,793,064 (GRCm38) missense probably damaging 1.00
R2220:Mertk UTSW 2 128,801,472 (GRCm38) missense probably benign 0.18
R4128:Mertk UTSW 2 128,777,438 (GRCm38) nonsense probably null
R4664:Mertk UTSW 2 128,801,212 (GRCm38) missense probably benign 0.24
R4740:Mertk UTSW 2 128,751,994 (GRCm38) missense probably damaging 1.00
R4822:Mertk UTSW 2 128,801,305 (GRCm38) missense probably benign 0.00
R4839:Mertk UTSW 2 128,782,576 (GRCm38) missense probably damaging 0.97
R4874:Mertk UTSW 2 128,750,159 (GRCm38) missense probably damaging 1.00
R4899:Mertk UTSW 2 128,783,925 (GRCm38) missense probably damaging 1.00
R5010:Mertk UTSW 2 128,784,000 (GRCm38) missense probably benign 0.03
R5128:Mertk UTSW 2 128,738,247 (GRCm38) missense probably damaging 0.97
R5251:Mertk UTSW 2 128,729,455 (GRCm38) missense probably damaging 1.00
R5276:Mertk UTSW 2 128,801,314 (GRCm38) missense possibly damaging 0.87
R5397:Mertk UTSW 2 128,771,464 (GRCm38) missense possibly damaging 0.86
R5575:Mertk UTSW 2 128,736,565 (GRCm38) missense probably damaging 1.00
R5605:Mertk UTSW 2 128,738,307 (GRCm38) missense probably benign 0.43
R5705:Mertk UTSW 2 128,771,401 (GRCm38) missense probably benign 0.00
R5987:Mertk UTSW 2 128,771,374 (GRCm38) missense probably benign 0.01
R6127:Mertk UTSW 2 128,738,291 (GRCm38) missense probably damaging 0.99
R6556:Mertk UTSW 2 128,776,421 (GRCm38) missense probably benign 0.23
R6671:Mertk UTSW 2 128,752,023 (GRCm38) critical splice donor site probably null
R6674:Mertk UTSW 2 128,729,357 (GRCm38) missense probably benign
R6841:Mertk UTSW 2 128,759,230 (GRCm38) splice site probably null
R7153:Mertk UTSW 2 128,736,649 (GRCm38) missense probably damaging 0.99
R7192:Mertk UTSW 2 128,793,108 (GRCm38) splice site probably null
R7225:Mertk UTSW 2 128,801,562 (GRCm38) missense possibly damaging 0.94
R7344:Mertk UTSW 2 128,771,497 (GRCm38) missense probably benign
R7414:Mertk UTSW 2 128,729,393 (GRCm38) missense possibly damaging 0.95
R7883:Mertk UTSW 2 128,776,345 (GRCm38) missense probably benign 0.01
R8000:Mertk UTSW 2 128,771,498 (GRCm38) missense probably benign
R8953:Mertk UTSW 2 128,778,796 (GRCm38) intron probably benign
R9135:Mertk UTSW 2 128,762,115 (GRCm38) missense probably benign 0.23
R9153:Mertk UTSW 2 128,782,567 (GRCm38) missense probably damaging 1.00
R9176:Mertk UTSW 2 128,778,972 (GRCm38) missense possibly damaging 0.62
R9443:Mertk UTSW 2 128,762,109 (GRCm38) missense probably benign 0.00
R9574:Mertk UTSW 2 128,751,960 (GRCm38) missense probably benign 0.03
R9582:Mertk UTSW 2 128,782,607 (GRCm38) missense possibly damaging 0.55
R9616:Mertk UTSW 2 128,801,335 (GRCm38) missense probably benign 0.01
X0067:Mertk UTSW 2 128,729,567 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGTGCTGTTCCTGGTCCC -3'
(R):5'- GGTTAACTCCATCAGCACCC -3'

Sequencing Primer
(F):5'- CCCTGAGCTGACCTTGTTGG -3'
(R):5'- CAGGAAACACAAACCCGGTTTTACTC -3'
Posted On 2019-06-07