Incidental Mutation 'R9179:Axl'
ID 696893
Institutional Source Beutler Lab
Gene Symbol Axl
Ensembl Gene ENSMUSG00000002602
Gene Name AXL receptor tyrosine kinase
Synonyms Ark, Ufo, Tyro7
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9179 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 25456698-25488130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25469658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 502 (T502A)
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: T502A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: T502A

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: T493A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: T493A

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
SMART Domains Protein: ENSMUSP00000114907
Gene: ENSMUSG00000002602
AA Change: T125A

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T A 6: 124,333,882 (GRCm39) M33L probably benign Het
2310003L06Rik A G 5: 88,119,890 (GRCm39) T216A probably benign Het
9330161L09Rik A C 12: 103,373,837 (GRCm39) C12G unknown Het
Ahdc1 T A 4: 132,788,929 (GRCm39) F57I possibly damaging Het
Amotl1 C A 9: 14,461,787 (GRCm39) A809S possibly damaging Het
Ankfn1 C T 11: 89,414,011 (GRCm39) M121I probably benign Het
Aspm A G 1: 139,404,453 (GRCm39) D1261G probably damaging Het
Catsperd G A 17: 56,968,252 (GRCm39) D546N probably benign Het
Ccdc102a A G 8: 95,639,748 (GRCm39) V182A possibly damaging Het
Cdh23 C T 10: 60,153,664 (GRCm39) A2309T probably benign Het
Cfap69 A T 5: 5,676,064 (GRCm39) N210K probably benign Het
Cnot1 A G 8: 96,500,054 (GRCm39) S147P probably benign Het
Cntnap5c T C 17: 58,600,912 (GRCm39) S752P probably benign Het
Cyp3a41a A T 5: 145,642,654 (GRCm39) M235K probably benign Het
Cyp4f15 A G 17: 32,919,185 (GRCm39) D336G possibly damaging Het
Dagla A G 19: 10,228,525 (GRCm39) I631T possibly damaging Het
Dph6 C T 2: 114,353,591 (GRCm39) C199Y probably damaging Het
Ermard T A 17: 15,273,495 (GRCm39) L360Q probably damaging Het
F830045P16Rik T C 2: 129,314,708 (GRCm39) T190A probably benign Het
Fgfr3 G T 5: 33,887,316 (GRCm39) V212L possibly damaging Het
Flnb C A 14: 7,887,541 (GRCm38) C450* probably null Het
Gls T C 1: 52,239,015 (GRCm39) Y362C probably damaging Het
Gngt1 A G 6: 3,994,246 (GRCm39) D8G possibly damaging Het
Gns T C 10: 121,216,080 (GRCm39) F276L Het
Grin2d A G 7: 45,506,176 (GRCm39) S572P probably damaging Het
Impa2 C T 18: 67,422,473 (GRCm39) probably benign Het
Itgal A T 7: 126,905,883 (GRCm39) D355V probably benign Het
Kdm6b A T 11: 69,297,521 (GRCm39) probably null Het
Klk1b1 T A 7: 43,618,715 (GRCm39) C31S probably damaging Het
Ldb3 A T 14: 34,277,312 (GRCm39) V354E probably benign Het
Mettl21c T A 1: 44,049,142 (GRCm39) Y135F probably benign Het
Mocs1 A G 17: 49,740,303 (GRCm39) T77A probably damaging Het
Ndufs1 T C 1: 63,209,274 (GRCm39) N30D probably benign Het
Or1j11 T C 2: 36,312,126 (GRCm39) S239P probably damaging Het
Or4a71 T A 2: 89,358,494 (GRCm39) K87* probably null Het
Otog C A 7: 45,937,885 (GRCm39) P1865T possibly damaging Het
Pabpc1l T C 2: 163,873,140 (GRCm39) S137P probably damaging Het
Pilrb1 C A 5: 137,855,657 (GRCm39) W78L probably damaging Het
Plekha6 A G 1: 133,214,085 (GRCm39) Y832C possibly damaging Het
Ppan C A 9: 20,803,199 (GRCm39) Q424K probably benign Het
Ppp1r12a T A 10: 108,087,782 (GRCm39) N544K probably damaging Het
Pramel16 T C 4: 143,676,294 (GRCm39) E270G probably benign Het
Pstpip2 A G 18: 77,961,155 (GRCm39) D246G possibly damaging Het
Rasef G A 4: 73,662,356 (GRCm39) T198I probably damaging Het
Rbm12 T C 2: 155,938,463 (GRCm39) H603R probably benign Het
Rims1 T C 1: 22,482,490 (GRCm39) R179G probably damaging Het
Scel T C 14: 103,811,836 (GRCm39) L288P possibly damaging Het
Sel1l A T 12: 91,778,726 (GRCm39) D696E probably benign Het
Slc4a8 A G 15: 100,689,482 (GRCm39) K416R possibly damaging Het
Tmem132b A T 5: 125,700,115 (GRCm39) M218L probably benign Het
Tnrc6a T C 7: 122,791,881 (GRCm39) S1800P probably benign Het
Tpcn1 A C 5: 120,680,015 (GRCm39) L576R probably damaging Het
Vmn2r34 T G 7: 7,675,723 (GRCm39) Q555P possibly damaging Het
Vwa8 C T 14: 79,335,801 (GRCm39) T1419I probably benign Het
Xrn2 T C 2: 146,855,081 (GRCm39) Y14H probably benign Het
Zfp1007 A G 5: 109,823,708 (GRCm39) C581R probably damaging Het
Zfyve28 A T 5: 34,382,376 (GRCm39) D241E probably benign 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
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
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'- TGCTGAGAATGCACAACACC -3'
(R):5'- GTGCTAATTCCAGATGTGCTC -3'

Sequencing Primer
(F):5'- AACACCCTATCGTCTACTGTTCTAAG -3'
(R):5'- TGCTCAGCATGCACTGAAG -3'
Posted On 2022-02-07