Mutagenetix > Incidental Mutation

Incidental Mutation 'R9352:Axl'

708130

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 #

R9352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25456698-25488130 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25462752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 659 (T659A)

Ref Sequence

ENSEMBL: ENSMUSP00000002677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002677] [ENSMUST00000085948]

AlphaFold

Q00993

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002677
AA Change: T659A

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602
AA Change: T659A

Domain	Start	End	E-Value	Type
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: T650A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602
AA Change: T650A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	T	7: 82,091,656 (GRCm39)	Q123L	probably damaging	Het
Adarb2	T	A	13: 8,807,428 (GRCm39)	L743Q	probably damaging	Het
Alpk2	C	A	18: 65,439,783 (GRCm39)	D537Y	probably benign	Het
Anxa4	C	T	6: 86,742,775 (GRCm39)		probably benign	Het
Arfgap3	T	A	15: 83,191,127 (GRCm39)	I464L	possibly damaging	Het
Asb2	C	T	12: 103,296,698 (GRCm39)	V320I	probably damaging	Het
Bbof1	A	G	12: 84,461,394 (GRCm39)	H139R	probably benign	Het
Birc6	G	A	17: 74,965,347 (GRCm39)		probably null	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Chil3	A	T	3: 106,067,787 (GRCm39)	F126Y	probably damaging	Het
Chrnb4	T	A	9: 54,951,167 (GRCm39)	D32V	probably benign	Het
Chst15	C	A	7: 131,872,257 (GRCm39)	C8F	probably damaging	Het
Cntnap5c	A	G	17: 58,399,463 (GRCm39)	I439V	probably benign	Het
Crisp2	T	A	17: 41,078,200 (GRCm39)	N194I	probably damaging	Het
Csrnp1	G	A	9: 119,801,997 (GRCm39)	T354M	probably benign	Het
Cul1	T	A	6: 47,479,426 (GRCm39)	S231T	probably benign	Het
Cyp27a1	C	T	1: 74,752,920 (GRCm39)	T44M	possibly damaging	Het
Dgkg	T	C	16: 22,398,581 (GRCm39)	D232G	probably damaging	Het
Dnah1	G	T	14: 31,038,620 (GRCm39)	Q154K	probably benign	Het
Dnmt1	A	G	9: 20,840,384 (GRCm39)	V304A	probably benign	Het
Dok6	T	C	18: 89,492,133 (GRCm39)	N148S	probably benign	Het
Fnta	A	T	8: 26,501,119 (GRCm39)	W134R	probably damaging	Het
Garin5b	T	A	7: 4,761,605 (GRCm39)	Y369F		Het
Gm32742	T	G	9: 51,052,544 (GRCm39)	Q1441P	possibly damaging	Het
Gm3486	T	C	14: 41,208,318 (GRCm39)	Q131R	possibly damaging	Het
Gnptab	A	G	10: 88,268,350 (GRCm39)	N486D	probably benign	Het
H2-Q4	T	G	17: 35,601,909 (GRCm39)	F257C	probably damaging	Het
Hfe	A	G	13: 23,890,119 (GRCm39)	V218A	probably benign	Het
Htr2b	A	G	1: 86,027,294 (GRCm39)	V404A	probably benign	Het
Hyou1	T	A	9: 44,300,926 (GRCm39)		probably null	Het
Ikbkb	T	C	8: 23,150,444 (GRCm39)	D746G	probably benign	Het
Ikzf4	T	C	10: 128,472,623 (GRCm39)	N251S	probably benign	Het
Il23r	A	C	6: 67,403,592 (GRCm39)	N436K	probably damaging	Het
Impg2	A	T	16: 56,072,470 (GRCm39)	I301L	probably benign	Het
Irf4	A	T	13: 30,936,706 (GRCm39)	M146L	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kctd3	T	C	1: 188,704,777 (GRCm39)	S665G	probably damaging	Het
Kiz	T	C	2: 146,794,927 (GRCm39)	S596P	probably damaging	Het
Kpna2	T	C	11: 106,880,292 (GRCm39)	E452G	probably damaging	Het
Lclat1	A	G	17: 73,468,937 (GRCm39)	Y39C	probably damaging	Het
Lig3	A	G	11: 82,686,971 (GRCm39)	S705G	probably benign	Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map3k8	C	T	18: 4,349,170 (GRCm39)	M49I	probably benign	Het
Mep1b	A	G	18: 21,209,431 (GRCm39)	D54G	probably damaging	Het
Mgat5b	T	A	11: 116,857,533 (GRCm39)	S342R	probably benign	Het
Mthfd2l	G	T	5: 91,109,172 (GRCm39)	V201L	possibly damaging	Het
Naip6	G	T	13: 100,437,893 (GRCm39)	T371K	possibly damaging	Het
Naxd	T	C	8: 11,555,504 (GRCm39)	I104T	probably damaging	Het
Nbeal2	T	A	9: 110,456,916 (GRCm39)	I2361F	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e17	A	G	11: 73,831,470 (GRCm39)	T133A	probably benign	Het
Or6c75	A	T	10: 129,337,364 (GRCm39)	M196L	probably benign	Het
Or8b8	A	G	9: 37,808,712 (GRCm39)	E4G	probably benign	Het
Or8c16	T	G	9: 38,130,683 (GRCm39)	L185R	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Polq	T	C	16: 36,862,252 (GRCm39)	F591L	probably damaging	Het
Ppp2r1a	A	T	17: 21,185,499 (GRCm39)		probably null	Het
Prrc1	A	G	18: 57,522,317 (GRCm39)	Y383C	probably damaging	Het
Ptgfr	A	T	3: 151,541,160 (GRCm39)	V116D	probably damaging	Het
Qpctl	C	T	7: 18,878,599 (GRCm39)	R292Q	possibly damaging	Het
Rasip1	G	A	7: 45,278,280 (GRCm39)	V194M	possibly damaging	Het
Rbbp4	A	T	4: 129,211,498 (GRCm39)	N385K	probably benign	Het
Rbbp8nl	A	G	2: 179,921,053 (GRCm39)	S444P	probably benign	Het
Resf1	T	C	6: 149,236,180 (GRCm39)	F1500S	probably damaging	Het
Sf3a1	G	A	11: 4,110,494 (GRCm39)	A3T	unknown	Het
Slc1a4	A	G	11: 20,282,025 (GRCm39)	S150P	probably damaging	Het
Slc28a2	T	C	2: 122,281,522 (GRCm39)		probably null	Het
Slc30a5	A	G	13: 100,940,380 (GRCm39)	I702T	probably benign	Het
Slc36a4	T	A	9: 15,633,319 (GRCm39)		probably null	Het
Slf2	A	G	19: 44,931,957 (GRCm39)	R671G	probably null	Het
Smarcc1	A	G	9: 110,035,220 (GRCm39)	K881R	probably null	Het
Srsf11	A	G	3: 157,717,836 (GRCm39)	V414A	unknown	Het
Tcn2	T	C	11: 3,873,446 (GRCm39)	N300S	probably damaging	Het
Tecta	T	C	9: 42,249,147 (GRCm39)	K1905R	probably damaging	Het
Tex30	T	G	1: 44,130,753 (GRCm39)		probably null	Het
Tktl2	A	T	8: 66,965,974 (GRCm39)	I511F	possibly damaging	Het
Tpp1	G	T	7: 105,398,881 (GRCm39)	Q183K	probably benign	Het
Trib2	A	C	12: 15,865,413 (GRCm39)	I30R	probably benign	Het
Tti1	A	G	2: 157,842,692 (GRCm39)	L779P	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	GAGCCA	GAGCCATAGCCA	4: 43,177,313 (GRCm39)		probably null	Het
Vmn2r112	A	G	17: 22,822,479 (GRCm39)	T386A	probably damaging	Het
Vps16	T	C	2: 130,283,823 (GRCm39)		probably null	Het
Zan	T	G	5: 137,434,745 (GRCm39)	N2186T	unknown	Het
Zdhhc11	C	T	13: 74,121,800 (GRCm39)	R104*	probably null	Het
Zfp318	T	G	17: 46,721,284 (GRCm39)	H1176Q	probably damaging	Het
Zfp335	G	A	2: 164,742,242 (GRCm39)	H581Y	probably damaging	Het
Zfp7	T	C	15: 76,775,674 (GRCm39)	I572T	probably damaging	Het
Zfp955a	T	C	17: 33,461,335 (GRCm39)	T266A	probably benign	Het

Other mutations in Axl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TTCTAACCTTGTCTGGAGGTCC -3'
(R):5'- CTCAGATGGGTATCAAAGGCTAGAG -3'

Sequencing Primer
(F):5'- TTGTCTGGAGGTCCAACCC -3'
(R):5'- TCTAGGACCCTGTAGCTATAGAAAAG -3'

Posted On

2022-04-18