Incidental Mutation 'R9002:Axl'
ID 685023
Institutional Source Beutler Lab
Gene Symbol Axl
Ensembl Gene ENSMUSG00000002602
Gene Name AXL receptor tyrosine kinase
Synonyms Ark, Ufo, Tyro7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9002 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 25456698-25488130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25478103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 199 (C199S)
Ref Sequence ENSEMBL: ENSMUSP00000002677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002677] [ENSMUST00000085948]
AlphaFold Q00993
Predicted Effect probably damaging
Transcript: ENSMUST00000002677
AA Change: C199S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: C199S

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 possibly damaging
Transcript: ENSMUST00000085948
AA Change: C199S

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: C199S

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 probably benign
Transcript: ENSMUST00000132038
SMART Domains Protein: ENSMUSP00000114907
Gene: ENSMUSG00000002602

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,241,926 (GRCm39) M1263K possibly damaging Het
Abca8b C T 11: 109,843,456 (GRCm39) D985N probably benign Het
Ak5 A T 3: 152,359,091 (GRCm39) M207K probably damaging Het
Akt1 T C 12: 112,626,048 (GRCm39) I75V probably benign Het
Ank T A 15: 27,544,413 (GRCm39) L58* probably null Het
Ap1g1 A C 8: 110,581,738 (GRCm39) T666P probably benign Het
Ap3b2 A T 7: 81,117,192 (GRCm39) S615T probably benign Het
Ash1l G T 3: 88,888,715 (GRCm39) R198L probably benign Het
C1d T C 11: 17,212,787 (GRCm39) L44S probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Col4a4 A G 1: 82,449,032 (GRCm39) L1186P probably benign Het
Ctdsp2 T A 10: 126,832,061 (GRCm39) I223N probably damaging Het
Efcab3 A T 11: 104,920,822 (GRCm39) D4671V probably damaging Het
Eml1 T A 12: 108,504,438 (GRCm39) I799N probably damaging Het
Fbxw18 G A 9: 109,519,660 (GRCm39) T282I probably damaging Het
Fmo2 A T 1: 162,705,647 (GRCm39) C397* probably null Het
Gbp10 C A 5: 105,369,847 (GRCm39) V262L probably benign Het
Gm45871 A T 18: 90,609,968 (GRCm39) H402L probably damaging Het
Has1 T C 17: 18,063,912 (GRCm39) S576G unknown Het
Hat1 C T 2: 71,271,647 (GRCm39) R407W probably damaging Het
Hivep2 G T 10: 14,008,157 (GRCm39) R1585L probably benign Het
Ifi211 A G 1: 173,733,894 (GRCm39) V89A possibly damaging Het
Igkv4-59 T C 6: 69,415,475 (GRCm39) T27A possibly damaging Het
Irf9 T A 14: 55,845,140 (GRCm39) N333K possibly damaging Het
Jakmip2 C T 18: 43,715,323 (GRCm39) V68I probably benign Het
Kif1b T G 4: 149,275,712 (GRCm39) I1400L probably damaging Het
Kif2b C T 11: 91,467,053 (GRCm39) C410Y probably benign Het
Klk1b16 T C 7: 43,790,189 (GRCm39) L153P possibly damaging Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lama5 A G 2: 179,838,311 (GRCm39) C855R probably damaging Het
Mast3 A G 8: 71,233,904 (GRCm39) L947P probably damaging Het
Mblac2 C A 13: 81,860,072 (GRCm39) A142E possibly damaging Het
Mppe1 A G 18: 67,358,925 (GRCm39) S348P possibly damaging Het
Mroh8 A C 2: 157,058,939 (GRCm39) V909G probably damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nek10 T C 14: 14,980,590 (GRCm38) L982P probably damaging Het
Nlrp4b C T 7: 10,448,886 (GRCm39) T363I probably damaging Het
Nol10 A G 12: 17,408,134 (GRCm39) E120G probably damaging Het
Olfml1 T C 7: 107,189,423 (GRCm39) S163P probably damaging Het
Or2n1c A T 17: 38,519,555 (GRCm39) N140Y probably benign Het
Or51a7 A T 7: 102,614,618 (GRCm39) I104F probably damaging Het
Or6ae1 T C 7: 139,742,198 (GRCm39) I222V probably damaging Het
Or8b43 T A 9: 38,360,171 (GRCm39) M1K probably null Het
Or8i2 T C 2: 86,852,241 (GRCm39) T216A probably benign Het
Pde6a T A 18: 61,419,060 (GRCm39) L812Q probably damaging Het
Pdxp T A 15: 78,802,459 (GRCm39) M231K probably damaging Het
Pi4ka A G 16: 17,117,317 (GRCm39) L1368P Het
Ppie T C 4: 123,024,344 (GRCm39) N171S possibly damaging Het
Rimbp2 T C 5: 128,865,356 (GRCm39) H657R probably benign Het
Sarnp T A 10: 128,657,842 (GRCm39) probably null Het
Serpinb9c T C 13: 33,334,329 (GRCm39) T266A probably damaging Het
Srgap3 T A 6: 112,757,854 (GRCm39) I218F possibly damaging Het
Susd1 C A 4: 59,324,882 (GRCm39) W717L probably benign Het
Tgfbi A G 13: 56,771,402 (GRCm39) Y88C probably damaging Het
Tmc6 A T 11: 117,661,308 (GRCm39) F624Y probably damaging Het
Tnni2 A G 7: 141,998,013 (GRCm39) E172G probably damaging Het
Traf3ip1 T C 1: 91,433,178 (GRCm39) S316P probably benign Het
Tshr C A 12: 91,504,548 (GRCm39) N495K possibly damaging Het
Ulk3 C A 9: 57,500,542 (GRCm39) A317E probably damaging Het
Usp24 T C 4: 106,275,412 (GRCm39) V2229A possibly damaging Het
Usp32 G A 11: 84,944,777 (GRCm39) R304C probably damaging Het
Usp40 C T 1: 87,935,063 (GRCm39) G28D probably benign Het
Vmn1r41 A G 6: 89,724,109 (GRCm39) K217E possibly damaging Het
Vmn2r73 T A 7: 85,507,284 (GRCm39) K676M probably benign Het
Vnn1 A G 10: 23,775,349 (GRCm39) T200A possibly damaging Het
Zc3hav1 A G 6: 38,302,176 (GRCm39) L698P 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
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
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
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'- CACAAGGGAAGGCTGACTCTTAG -3'
(R):5'- GTGTACCATCTGGCTCTGTAC -3'

Sequencing Primer
(F):5'- GAAGGCTGACTCTTAGGAAACTCTC -3'
(R):5'- TGGCTCTGTACATGTGAACAC -3'
Posted On 2021-10-11