Incidental Mutation 'R3915:Axl'
ID 309593
Institutional Source Beutler Lab
Gene Symbol Axl
Ensembl Gene ENSMUSG00000002602
Gene Name AXL receptor tyrosine kinase
Synonyms Ark, Ufo, Tyro7
MMRRC Submission 040913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3915 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 25456698-25488130 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 25460169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000083110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002677] [ENSMUST00000085948]
AlphaFold Q00993
Predicted Effect probably benign
Transcript: ENSMUST00000002677
SMART Domains Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 35 124 5.53e-6 SMART
IG 139 218 9.06e-2 SMART
FN3 219 312 9.25e-6 SMART
FN3 328 409 2.18e-2 SMART
transmembrane domain 444 466 N/A INTRINSIC
low complexity region 489 501 N/A INTRINSIC
TyrKc 530 797 1.91e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085948
SMART Domains Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 35 124 5.53e-6 SMART
IG 139 218 9.06e-2 SMART
FN3 219 312 9.25e-6 SMART
FN3 328 409 2.18e-2 SMART
transmembrane domain 435 457 N/A INTRINSIC
low complexity region 480 492 N/A INTRINSIC
TyrKc 521 788 1.91e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137211
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity abnormalities, and aberrant apoptosis. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik G A 5: 3,627,248 (GRCm39) V75I possibly damaging Het
AA986860 A G 1: 130,670,344 (GRCm39) K189E probably benign Het
Abcf1 C T 17: 36,270,402 (GRCm39) R596H possibly damaging Het
Abtb3 C A 10: 85,468,134 (GRCm39) H810N probably damaging Het
Birc6 A G 17: 74,886,603 (GRCm39) K644E probably benign Het
Btnl7-ps T A 17: 34,760,489 (GRCm39) noncoding transcript Het
Car8 A T 4: 8,184,576 (GRCm39) probably benign Het
Ccdc62 C T 5: 124,092,778 (GRCm39) R588C probably damaging Het
Clasp2 T G 9: 113,737,805 (GRCm39) S374A probably damaging Het
Ctnnb1 A G 9: 120,784,717 (GRCm39) H503R probably benign Het
Cwf19l2 A G 9: 3,456,776 (GRCm39) H703R probably damaging Het
Efcab7 A T 4: 99,735,375 (GRCm39) Q133L probably damaging Het
Ehmt2 T C 17: 35,122,443 (GRCm39) S280P probably damaging Het
Eif4a3l1 A T 6: 136,306,420 (GRCm39) T294S probably benign Het
Eomes A G 9: 118,310,341 (GRCm39) M351V probably benign Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Fam222b C G 11: 78,045,756 (GRCm39) P439R probably benign Het
Gbp11 T A 5: 105,478,978 (GRCm39) K153N probably damaging Het
Golim4 T C 3: 75,810,634 (GRCm39) T174A probably damaging Het
Grid1 A G 14: 35,242,684 (GRCm39) Y679C probably damaging Het
Gvin-ps5 A G 7: 105,929,445 (GRCm39) S151P probably benign Het
Ikzf3 T C 11: 98,381,412 (GRCm39) D56G probably damaging Het
Kcnj16 A G 11: 110,916,382 (GRCm39) D348G probably benign Het
Kidins220 T C 12: 25,103,957 (GRCm39) L1319P possibly damaging Het
Lrp1b T A 2: 41,339,248 (GRCm39) D751V probably damaging Het
Macc1 T C 12: 119,410,551 (GRCm39) C440R probably benign Het
Mbd2 T C 18: 70,755,680 (GRCm39) V382A probably benign Het
Or13a17 T A 7: 140,270,888 (GRCm39) D23E probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Or6c68 G A 10: 129,158,178 (GRCm39) A229T probably benign Het
Pgs1 T G 11: 117,910,472 (GRCm39) S528A probably benign Het
Pitpnm3 T C 11: 72,003,110 (GRCm39) T67A probably damaging Het
Pnliprp2 T G 19: 58,748,794 (GRCm39) V33G probably damaging Het
Ptn T C 6: 36,720,282 (GRCm39) N90S probably damaging Het
Ptprt A T 2: 161,397,475 (GRCm39) probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrp1 G A 2: 117,119,122 (GRCm39) S505F probably damaging Het
Sesn1 G A 10: 41,770,886 (GRCm39) R139H probably benign Het
Slc17a7 T A 7: 44,818,144 (GRCm39) L23Q probably damaging Het
Slc30a10 G T 1: 185,187,333 (GRCm39) E25* probably null Het
Smco1 A G 16: 32,092,583 (GRCm39) I85V probably benign Het
Vmn1r76 A T 7: 11,664,496 (GRCm39) S239R probably benign Het
Zc3h7a A T 16: 10,974,074 (GRCm39) V237D possibly damaging Het
Other mutations in Axl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Axl APN 7 25,485,324 (GRCm39) missense probably benign 0.16
IGL00428:Axl APN 7 25,460,297 (GRCm39) missense probably damaging 1.00
IGL00725:Axl APN 7 25,463,908 (GRCm39) missense probably damaging 0.97
IGL01348:Axl APN 7 25,462,734 (GRCm39) missense probably damaging 1.00
IGL01350:Axl APN 7 25,458,175 (GRCm39) missense probably damaging 1.00
IGL01357:Axl APN 7 25,473,594 (GRCm39) missense probably benign 0.00
IGL02314:Axl APN 7 25,486,345 (GRCm39) missense possibly damaging 0.50
IGL02321:Axl APN 7 25,458,194 (GRCm39) missense probably damaging 1.00
IGL02839:Axl APN 7 25,466,216 (GRCm39) critical splice donor site probably null
IGL02878:Axl APN 7 25,458,302 (GRCm39) missense probably damaging 0.99
R0125:Axl UTSW 7 25,486,368 (GRCm39) missense probably benign 0.00
R0529:Axl UTSW 7 25,486,712 (GRCm39) splice site probably benign
R0539:Axl UTSW 7 25,478,142 (GRCm39) unclassified probably benign
R0614:Axl UTSW 7 25,473,588 (GRCm39) missense probably benign 0.18
R0747:Axl UTSW 7 25,463,484 (GRCm39) missense possibly damaging 0.95
R1599:Axl UTSW 7 25,463,394 (GRCm39) missense probably damaging 0.99
R1727:Axl UTSW 7 25,460,191 (GRCm39) missense possibly damaging 0.68
R1880:Axl UTSW 7 25,473,973 (GRCm39) missense probably damaging 1.00
R2206:Axl UTSW 7 25,470,061 (GRCm39) missense probably damaging 1.00
R2513:Axl UTSW 7 25,486,941 (GRCm39) missense probably benign
R2877:Axl UTSW 7 25,465,949 (GRCm39) missense probably damaging 0.96
R3802:Axl UTSW 7 25,487,902 (GRCm39) start codon destroyed probably null 0.98
R4064:Axl UTSW 7 25,463,445 (GRCm39) missense probably benign 0.36
R4072:Axl UTSW 7 25,463,336 (GRCm39) unclassified probably benign
R4073:Axl UTSW 7 25,463,336 (GRCm39) unclassified probably benign
R4074:Axl UTSW 7 25,463,336 (GRCm39) unclassified probably benign
R4378:Axl UTSW 7 25,458,262 (GRCm39) missense probably benign 0.06
R5039:Axl UTSW 7 25,485,340 (GRCm39) missense probably damaging 1.00
R5224:Axl UTSW 7 25,486,369 (GRCm39) missense probably benign 0.00
R5328:Axl UTSW 7 25,472,836 (GRCm39) missense probably damaging 1.00
R5519:Axl UTSW 7 25,478,087 (GRCm39) missense possibly damaging 0.93
R5885:Axl UTSW 7 25,466,277 (GRCm39) missense probably damaging 1.00
R6367:Axl UTSW 7 25,486,858 (GRCm39) missense probably damaging 1.00
R6447:Axl UTSW 7 25,469,708 (GRCm39) missense probably damaging 0.96
R6931:Axl UTSW 7 25,460,858 (GRCm39) missense probably damaging 1.00
R7172:Axl UTSW 7 25,486,399 (GRCm39) missense probably benign 0.33
R7355:Axl UTSW 7 25,473,531 (GRCm39) missense probably benign 0.22
R7410:Axl UTSW 7 25,458,208 (GRCm39) missense probably benign 0.06
R8274:Axl UTSW 7 25,463,438 (GRCm39) missense probably damaging 0.99
R8279:Axl UTSW 7 25,463,379 (GRCm39) missense probably benign 0.07
R8281:Axl UTSW 7 25,463,379 (GRCm39) missense probably benign 0.07
R8282:Axl UTSW 7 25,463,379 (GRCm39) missense probably benign 0.07
R8283:Axl UTSW 7 25,463,379 (GRCm39) missense probably benign 0.07
R8546:Axl UTSW 7 25,473,588 (GRCm39) missense probably benign 0.00
R8742:Axl UTSW 7 25,463,861 (GRCm39) missense probably damaging 0.99
R9002:Axl UTSW 7 25,478,103 (GRCm39) missense probably damaging 0.97
R9139:Axl UTSW 7 25,460,846 (GRCm39) missense probably damaging 1.00
R9179:Axl UTSW 7 25,469,658 (GRCm39) missense probably damaging 0.97
R9324:Axl UTSW 7 25,460,982 (GRCm39) missense probably damaging 1.00
R9343:Axl UTSW 7 25,473,544 (GRCm39) missense probably damaging 1.00
R9352:Axl UTSW 7 25,462,752 (GRCm39) missense possibly damaging 0.73
X0027:Axl UTSW 7 25,469,693 (GRCm39) missense probably damaging 1.00
Z1177:Axl UTSW 7 25,460,951 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGTTCCTTTAGCAATCTCCC -3'
(R):5'- CGCTGTCGACAAATGTCCAC -3'

Sequencing Primer
(F):5'- CACCCCACTGGCATTCTCAGAG -3'
(R):5'- GCTGTCGACAAATGTCCACGTAAG -3'
Posted On 2015-04-17