Incidental Mutation 'R6447:Axl'
ID 519227
Institutional Source Beutler Lab
Gene Symbol Axl
Ensembl Gene ENSMUSG00000002602
Gene Name AXL receptor tyrosine kinase
Synonyms Ark, Ufo, Tyro7
MMRRC Submission 044389-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 25456698-25488130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25469708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Isoleucine at position 476 (R476I)
Ref Sequence ENSEMBL: ENSMUSP00000083110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002677] [ENSMUST00000085948]
AlphaFold Q00993
Predicted Effect possibly damaging
Transcript: ENSMUST00000002677
AA Change: R485I

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: R485I

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 damaging
Transcript: ENSMUST00000085948
AA Change: R476I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: R476I

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 unknown
Transcript: ENSMUST00000132038
AA Change: R108I
SMART Domains Protein: ENSMUSP00000114907
Gene: ENSMUSG00000002602
AA Change: R108I

DomainStartEndE-ValueType
Blast:FN3 2 42 8e-20 BLAST
SCOP:d1gh7a2 2 61 4e-7 SMART
transmembrane domain 68 90 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
Pfam:Pkinase_Tyr 154 188 4.1e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132989
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A G 3: 59,772,819 (GRCm39) I108V probably damaging Het
Casr A G 16: 36,315,907 (GRCm39) L721P probably damaging Het
Cntn6 A T 6: 104,836,409 (GRCm39) H925L probably damaging Het
Csmd1 T C 8: 15,960,527 (GRCm39) Y3296C probably damaging Het
Dnah3 G A 7: 119,522,277 (GRCm39) T3972M probably benign Het
Ect2 A G 3: 27,169,633 (GRCm39) F740S probably damaging Het
Eif1ad10 T C 12: 88,216,494 (GRCm39) D126G unknown Het
Exoc1 T A 5: 76,691,364 (GRCm39) D222E probably damaging Het
Hdac2 T C 10: 36,869,812 (GRCm39) V258A possibly damaging Het
Lrrk1 A G 7: 65,952,476 (GRCm39) S487P probably benign Het
Lyplal1 A T 1: 185,821,639 (GRCm39) probably null Het
Nwd2 T A 5: 63,964,898 (GRCm39) I1494N probably benign Het
Pcdhb22 A G 18: 37,653,269 (GRCm39) E579G possibly damaging Het
Samd8 T C 14: 21,842,624 (GRCm39) probably null Het
Sccpdh A G 1: 179,506,453 (GRCm39) *131W probably null Het
Smarcal1 C T 1: 72,625,033 (GRCm39) S60L probably damaging Het
Stau2 A T 1: 16,460,049 (GRCm39) V264E possibly damaging Het
T T C 17: 8,660,463 (GRCm39) I217T possibly damaging Het
Tbc1d1 C T 5: 64,490,836 (GRCm39) L896F probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmprss11f T C 5: 86,676,086 (GRCm39) Y365C probably damaging Het
Trdv4 A G 14: 54,312,931 (GRCm39) T102A probably damaging Het
Vmn1r205 G T 13: 22,776,912 (GRCm39) N63K probably damaging Het
Vps13b T C 15: 35,572,272 (GRCm39) V963A probably benign Het
Zswim2 T C 2: 83,745,457 (GRCm39) probably null 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
R3915:Axl UTSW 7 25,460,169 (GRCm39) splice site probably benign
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
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'- CGTCTACTGTTCTAAGGCTGTG -3'
(R):5'- GGAGTGCTAATTCCAGATGTGC -3'

Sequencing Primer
(F):5'- TGGTGCAAGCCTCACAGTG -3'
(R):5'- GTGCTAATTCCAGATGTGCTCAGC -3'
Posted On 2018-05-24