Incidental Mutation 'R1523:Mertk'
ID 167603
Institutional Source Beutler Lab
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 # R1523 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 128540876-128644814 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 128632248 bp (GRCm39)
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140221
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik G T 11: 83,331,232 (GRCm39) E48* probably null Het
4930503B20Rik A G 3: 146,356,864 (GRCm39) S15P probably damaging Het
5530400C23Rik A G 6: 133,271,256 (GRCm39) E100G possibly damaging Het
Abcg2 T C 6: 58,662,679 (GRCm39) F507S possibly damaging Het
Adgrf5 A T 17: 43,761,044 (GRCm39) Q913L probably benign Het
Ak7 A T 12: 105,732,867 (GRCm39) N537I probably benign Het
Anks1 T A 17: 28,270,629 (GRCm39) probably null Het
Arhgap32 T A 9: 32,168,048 (GRCm39) V677D probably damaging Het
Ark2c G A 18: 77,550,634 (GRCm39) T98I probably benign Het
Arnt C T 3: 95,396,965 (GRCm39) P466L possibly damaging Het
Arrb1 T G 7: 99,243,872 (GRCm39) L274R probably damaging Het
Atf2 A T 2: 73,693,552 (GRCm39) D3E probably damaging Het
Baz2b C T 2: 59,798,981 (GRCm39) R381Q possibly damaging Het
Cacna1g C T 11: 94,333,555 (GRCm39) probably null Het
Ccr10 C T 11: 101,064,501 (GRCm39) R343Q probably damaging Het
Clca3a2 G T 3: 144,777,405 (GRCm39) S822* probably null Het
Col12a1 A T 9: 79,568,278 (GRCm39) Y1649N probably benign Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Cp T C 3: 20,043,229 (GRCm39) Y1006H probably benign Het
Ctbs A G 3: 146,160,735 (GRCm39) T101A probably benign Het
Cyp4a31 T C 4: 115,426,951 (GRCm39) F170L probably benign Het
Dock1 A C 7: 134,345,976 (GRCm39) I173L possibly damaging Het
Dock4 A G 12: 40,743,024 (GRCm39) D393G possibly damaging Het
Dsg1a T A 18: 20,455,374 (GRCm39) S113T probably damaging Het
Epha3 T C 16: 63,431,311 (GRCm39) D530G probably damaging Het
Erbb4 T A 1: 68,435,411 (GRCm39) H162L possibly damaging Het
Fam131c C T 4: 141,110,142 (GRCm39) T180I probably benign Het
Fndc1 A G 17: 7,992,041 (GRCm39) S552P unknown Het
Foxf1 A G 8: 121,811,297 (GRCm39) probably null Het
Frem2 T C 3: 53,562,828 (GRCm39) T560A possibly damaging Het
Gabra4 G A 5: 71,790,975 (GRCm39) T289M probably damaging Het
Gcnt1 A G 19: 17,307,197 (GRCm39) V176A probably damaging Het
Gemin8 G A X: 164,963,644 (GRCm39) S100N probably benign Het
Gm1527 T C 3: 28,974,567 (GRCm39) I460T probably damaging Het
Gm6729 A G 10: 86,376,039 (GRCm39) noncoding transcript Het
Gprin2 T C 14: 33,917,036 (GRCm39) S245G probably benign Het
Gsdmc A T 15: 63,675,479 (GRCm39) I112N probably damaging Het
Hspb6 A G 7: 30,252,848 (GRCm39) D30G probably benign Het
Hydin A G 8: 111,259,903 (GRCm39) D2625G probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf2 T A 8: 47,290,875 (GRCm39) probably null Het
Kdm3b T C 18: 34,926,226 (GRCm39) probably null Het
Khdc3 G A 9: 73,010,773 (GRCm39) E208K possibly damaging Het
Kifc1 A T 17: 34,102,636 (GRCm39) S263T probably benign Het
Lrig3 C A 10: 125,844,567 (GRCm39) T677K probably damaging Het
Magec2 T A X: 61,334,512 (GRCm39) D177E probably benign Het
Mapkapk3 A T 9: 107,140,822 (GRCm39) probably null Het
Metrn A G 17: 26,013,951 (GRCm39) *292R probably null Het
Mllt6 G T 11: 97,555,849 (GRCm39) A60S probably damaging Het
Mmp21 T C 7: 133,280,774 (GRCm39) I65M probably benign Het
Myo7b A G 18: 32,099,929 (GRCm39) L1651P probably damaging Het
Nhsl1 A G 10: 18,284,103 (GRCm39) S15G probably benign Het
Nos1ap T C 1: 170,165,687 (GRCm39) D192G probably benign Het
Nrcam A G 12: 44,619,032 (GRCm39) T844A probably damaging Het
Pax4 A G 6: 28,444,840 (GRCm39) L203P probably damaging Het
Pbld2 T C 10: 62,912,212 (GRCm39) I280T probably benign Het
Pclo A G 5: 14,838,420 (GRCm39) Y4681C unknown Het
Phyhip T A 14: 70,699,200 (GRCm39) M1K probably null Het
Plppr4 T C 3: 117,116,490 (GRCm39) N456D probably damaging Het
Prpf31 T C 7: 3,643,856 (GRCm39) Y473H probably damaging Het
Rapgef2 A T 3: 79,000,056 (GRCm39) V564D probably damaging Het
Rexo1 T C 10: 80,378,585 (GRCm39) S1123G probably benign Het
Rnasel C A 1: 153,631,759 (GRCm39) Q513K probably damaging Het
Rnf213 T C 11: 119,332,714 (GRCm39) V2641A probably damaging Het
Rnf40 G T 7: 127,189,787 (GRCm39) R184L probably damaging Het
Rnf8 A G 17: 29,845,946 (GRCm39) K179R probably damaging Het
Sipa1l2 C T 8: 126,174,352 (GRCm39) D1309N possibly damaging Het
Slc25a38 T A 9: 119,952,769 (GRCm39) M307K possibly damaging Het
Snx33 T C 9: 56,833,466 (GRCm39) D201G possibly damaging Het
Sulf1 T A 1: 12,887,574 (GRCm39) Y249* probably null Het
Sult2a4 G A 7: 13,643,785 (GRCm39) Q261* probably null Het
Syndig1 G A 2: 149,845,154 (GRCm39) A226T probably damaging Het
Tcaf2 C T 6: 42,601,385 (GRCm39) W891* probably null Het
Tcf15 C A 2: 151,985,808 (GRCm39) T88K probably damaging Het
Tmem19 A T 10: 115,183,122 (GRCm39) M117K probably damaging Het
Trim32 T C 4: 65,532,241 (GRCm39) L266P probably benign Het
Vmn2r11 T C 5: 109,201,707 (GRCm39) I266V probably benign Het
Vmn2r73 A T 7: 85,519,486 (GRCm39) Y491N probably benign Het
Wrn C T 8: 33,782,744 (GRCm39) E486K probably benign Het
Zfp457 T C 13: 67,441,501 (GRCm39) E262G probably damaging Het
Zfp598 A G 17: 24,897,603 (GRCm39) D308G probably null Het
Zup1 T C 10: 33,803,436 (GRCm39) I549M probably damaging 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
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'- GAGAGAGTAGCTTGCCAGCTTTTCC -3'
(R):5'- AAAGATCAAGCGCCTAGTGCCC -3'

Sequencing Primer
(F):5'- TGCCAGCTTTTCCTTCTAAATG -3'
(R):5'- TAGTGCCCCTAGCCTAGTGAC -3'
Posted On 2014-04-13