Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01671:Stab2'

103497

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stab2

Ensembl Gene

ENSMUSG00000035459

Gene Name

stabilin 2

Synonyms

FEEL-2, STAB-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01671

Quality Score

Status

Chromosome

Chromosomal Location

86677062-86843889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86805141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 279 (D279G)

Ref Sequence

ENSEMBL: ENSMUSP00000048309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035288]

AlphaFold

Q8R4U0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035288
AA Change: D279G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048309
Gene: ENSMUSG00000035459
AA Change: D279G

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF	119	156	1.85e0	SMART
EGF	167	201	2.43e1	SMART
EGF	206	244	1.43e-1	SMART
EGF	248	284	3.82e-2	SMART
EGF	333	370	2.02e-1	SMART
FAS1	414	515	1.06e-8	SMART
FAS1	561	662	3.54e-19	SMART
EGF	746	783	6.76e-3	SMART
EGF	836	873	1.31e0	SMART
EGF	877	917	2.99e-4	SMART
EGF	921	960	3.51e-1	SMART
EGF	964	1002	1.99e0	SMART
FAS1	1038	1138	1.73e-13	SMART
FAS1	1181	1276	1.83e-12	SMART
EGF	1354	1391	6.92e0	SMART
EGF	1401	1435	1.11e1	SMART
EGF	1442	1477	3.01e0	SMART
EGF	1481	1519	1.64e-1	SMART
EGF	1523	1561	1.14e0	SMART
EGF	1565	1603	5.62e0	SMART
FAS1	1638	1734	2.23e-25	SMART
FAS1	1785	1891	6.92e-22	SMART
EGF	1966	2006	1.95e1	SMART
EGF_like	1977	2017	2.46e-1	SMART
EGF	2016	2050	1.14e0	SMART
EGF	2058	2089	1.56e1	SMART
EGF	2093	2130	1.36e1	SMART
EGF	2134	2173	2.13e0	SMART
LINK	2204	2298	2.08e-29	SMART
FAS1	2363	2455	3.19e-12	SMART
transmembrane domain	2467	2489	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162837

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit no gross abnormaities. Mice homozygous for one null allele display elevated serum hyaluronic acid levels and decreased metastasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc7	C	T	5: 107,131,111 (GRCm39)	P529S	probably damaging	Het
Defb45	T	C	2: 152,435,331 (GRCm39)	K26E	probably benign	Het
Dnajb8	T	C	6: 88,199,902 (GRCm39)	L146S	probably benign	Het
Egln1	T	C	8: 125,637,454 (GRCm39)	D399G	probably benign	Het
Ephb1	A	T	9: 101,873,986 (GRCm39)	C563S	probably damaging	Het
Gad2	T	A	2: 22,513,711 (GRCm39)	Y49*	probably null	Het
Gga2	A	G	7: 121,594,079 (GRCm39)	S470P	probably benign	Het
Gm21276	G	T	7: 38,464,151 (GRCm39)		noncoding transcript	Het
Gm3115	G	A	14: 4,084,189 (GRCm38)	C9Y	probably benign	Het
H2-M1	T	C	17: 36,981,330 (GRCm39)	E235G	probably damaging	Het
Hjv	T	C	3: 96,435,807 (GRCm39)	V355A	probably damaging	Het
Hsp90b1	C	T	10: 86,540,189 (GRCm39)	G41S	probably benign	Het
Mccc1	T	C	3: 36,018,609 (GRCm39)	D575G	probably benign	Het
Metap2	T	C	10: 93,707,340 (GRCm39)		probably benign	Het
Myh7	T	C	14: 55,210,381 (GRCm39)	T1775A	probably damaging	Het
Or2aj5	A	G	16: 19,424,671 (GRCm39)	I249T	probably benign	Het
Or5b3	T	A	19: 13,388,255 (GRCm39)	F107L	probably benign	Het
Or8g21	A	G	9: 38,906,149 (GRCm39)	V194A	probably benign	Het
Pak5	T	C	2: 135,958,293 (GRCm39)	D265G	possibly damaging	Het
Pex1	A	G	5: 3,674,088 (GRCm39)	I793V	probably benign	Het
Prkdc	A	G	16: 15,485,609 (GRCm39)	I479V	possibly damaging	Het
Rhcg	A	C	7: 79,248,299 (GRCm39)	I435S	probably benign	Het
Slc9c1	A	T	16: 45,380,678 (GRCm39)	T535S	probably benign	Het
Wdr83	T	C	8: 85,802,448 (GRCm39)		probably benign	Het

Other mutations in Stab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Stab2	APN	10	86,705,070 (GRCm39)	splice site	probably null
IGL00809:Stab2	APN	10	86,684,038 (GRCm39)	splice site	probably benign
IGL00911:Stab2	APN	10	86,805,617 (GRCm39)	missense	probably damaging	1.00
IGL01347:Stab2	APN	10	86,737,567 (GRCm39)	splice site	probably null
IGL01411:Stab2	APN	10	86,815,872 (GRCm39)	splice site	probably benign
IGL01503:Stab2	APN	10	86,776,477 (GRCm39)	splice site	probably benign
IGL01599:Stab2	APN	10	86,758,759 (GRCm39)	missense	probably damaging	1.00
IGL01635:Stab2	APN	10	86,816,992 (GRCm39)	missense	probably benign	0.04
IGL01640:Stab2	APN	10	86,790,035 (GRCm39)	missense	probably benign	0.09
IGL02023:Stab2	APN	10	86,707,695 (GRCm39)	missense	possibly damaging	0.67
IGL02075:Stab2	APN	10	86,803,514 (GRCm39)	missense	possibly damaging	0.71
IGL02174:Stab2	APN	10	86,695,606 (GRCm39)	splice site	probably null
IGL02600:Stab2	APN	10	86,790,123 (GRCm39)	missense	probably damaging	1.00
IGL02666:Stab2	APN	10	86,686,766 (GRCm39)	missense	possibly damaging	0.67
IGL02668:Stab2	APN	10	86,682,027 (GRCm39)	splice site	probably benign
IGL02709:Stab2	APN	10	86,682,029 (GRCm39)	splice site	probably benign
IGL02728:Stab2	APN	10	86,692,420 (GRCm39)	missense	possibly damaging	0.95
IGL02803:Stab2	APN	10	86,786,133 (GRCm39)	splice site	probably benign
IGL02938:Stab2	APN	10	86,707,785 (GRCm39)	missense	possibly damaging	0.77
IGL03033:Stab2	APN	10	86,832,667 (GRCm39)	critical splice donor site	probably null
IGL03238:Stab2	APN	10	86,690,985 (GRCm39)	missense	probably damaging	1.00
IGL03402:Stab2	APN	10	86,805,165 (GRCm39)	missense	probably benign	0.03
prospector	UTSW	10	86,737,431 (GRCm39)	splice site	probably null
songbird	UTSW	10	86,694,016 (GRCm39)	missense	probably damaging	1.00
3-1:Stab2	UTSW	10	86,705,041 (GRCm39)	missense	probably damaging	0.96
F6893:Stab2	UTSW	10	86,691,035 (GRCm39)	missense	probably damaging	1.00
K7371:Stab2	UTSW	10	86,779,153 (GRCm39)	critical splice donor site	probably null
PIT4142001:Stab2	UTSW	10	86,703,039 (GRCm39)	missense	possibly damaging	0.94
PIT4362001:Stab2	UTSW	10	86,697,299 (GRCm39)	nonsense	probably null
R0015:Stab2	UTSW	10	86,679,481 (GRCm39)	missense	probably benign
R0254:Stab2	UTSW	10	86,733,824 (GRCm39)	missense	probably benign
R0310:Stab2	UTSW	10	86,803,477 (GRCm39)	splice site	probably benign
R0333:Stab2	UTSW	10	86,677,491 (GRCm39)	missense	probably benign
R0391:Stab2	UTSW	10	86,783,008 (GRCm39)	missense	probably benign	0.27
R0400:Stab2	UTSW	10	86,708,474 (GRCm39)	missense	probably damaging	1.00
R0433:Stab2	UTSW	10	86,679,355 (GRCm39)	splice site	probably benign
R0440:Stab2	UTSW	10	86,785,792 (GRCm39)	missense	probably benign	0.23
R0743:Stab2	UTSW	10	86,723,759 (GRCm39)	missense	probably damaging	1.00
R0847:Stab2	UTSW	10	86,805,735 (GRCm39)	missense	probably benign	0.00
R0883:Stab2	UTSW	10	86,760,314 (GRCm39)	splice site	probably benign
R1078:Stab2	UTSW	10	86,742,997 (GRCm39)	splice site	probably null
R1118:Stab2	UTSW	10	86,721,582 (GRCm39)	splice site	probably null
R1119:Stab2	UTSW	10	86,695,619 (GRCm39)	missense	possibly damaging	0.51
R1179:Stab2	UTSW	10	86,786,165 (GRCm39)	missense	probably damaging	0.98
R1440:Stab2	UTSW	10	86,697,231 (GRCm39)	splice site	probably null
R1550:Stab2	UTSW	10	86,714,790 (GRCm39)	missense	probably benign	0.01
R1616:Stab2	UTSW	10	86,721,582 (GRCm39)	splice site	probably null
R1728:Stab2	UTSW	10	86,773,903 (GRCm39)	missense	probably benign	0.41
R1768:Stab2	UTSW	10	86,838,872 (GRCm39)	missense	probably damaging	1.00
R1772:Stab2	UTSW	10	86,790,098 (GRCm39)	missense	probably benign	0.06
R1776:Stab2	UTSW	10	86,793,680 (GRCm39)	missense	possibly damaging	0.92
R1784:Stab2	UTSW	10	86,773,903 (GRCm39)	missense	probably benign	0.41
R1892:Stab2	UTSW	10	86,773,913 (GRCm39)	missense	probably damaging	0.99
R1957:Stab2	UTSW	10	86,697,334 (GRCm39)	missense	probably benign	0.13
R1972:Stab2	UTSW	10	86,796,180 (GRCm39)	missense	probably damaging	0.99
R1975:Stab2	UTSW	10	86,732,360 (GRCm39)	critical splice donor site	probably null
R1976:Stab2	UTSW	10	86,732,360 (GRCm39)	critical splice donor site	probably null
R1996:Stab2	UTSW	10	86,838,895 (GRCm39)	missense	probably damaging	1.00
R2085:Stab2	UTSW	10	86,790,023 (GRCm39)	missense	probably damaging	1.00
R2149:Stab2	UTSW	10	86,700,904 (GRCm39)	nonsense	probably null
R2169:Stab2	UTSW	10	86,723,726 (GRCm39)	missense	probably damaging	1.00
R2201:Stab2	UTSW	10	86,776,503 (GRCm39)	missense	probably benign	0.22
R2296:Stab2	UTSW	10	86,790,338 (GRCm39)	critical splice acceptor site	probably null
R2297:Stab2	UTSW	10	86,790,338 (GRCm39)	critical splice acceptor site	probably null
R2298:Stab2	UTSW	10	86,790,338 (GRCm39)	critical splice acceptor site	probably null
R2326:Stab2	UTSW	10	86,790,338 (GRCm39)	critical splice acceptor site	probably null
R2434:Stab2	UTSW	10	86,805,183 (GRCm39)	missense	possibly damaging	0.78
R2519:Stab2	UTSW	10	86,770,704 (GRCm39)	splice site	probably benign
R2696:Stab2	UTSW	10	86,697,363 (GRCm39)	missense	probably benign	0.45
R2883:Stab2	UTSW	10	86,803,550 (GRCm39)	missense	possibly damaging	0.92
R2923:Stab2	UTSW	10	86,697,325 (GRCm39)	missense	probably damaging	1.00
R3711:Stab2	UTSW	10	86,702,572 (GRCm39)	missense	probably damaging	1.00
R3787:Stab2	UTSW	10	86,805,141 (GRCm39)	missense	possibly damaging	0.50
R3834:Stab2	UTSW	10	86,785,776 (GRCm39)	missense	possibly damaging	0.87
R3970:Stab2	UTSW	10	86,714,750 (GRCm39)	missense	probably damaging	0.97
R3979:Stab2	UTSW	10	86,699,320 (GRCm39)	missense	possibly damaging	0.56
R4003:Stab2	UTSW	10	86,693,988 (GRCm39)	missense	probably damaging	1.00
R4088:Stab2	UTSW	10	86,758,049 (GRCm39)	missense	probably damaging	1.00
R4151:Stab2	UTSW	10	86,838,847 (GRCm39)	missense	probably benign	0.12
R4190:Stab2	UTSW	10	86,714,808 (GRCm39)	missense	probably damaging	0.98
R4556:Stab2	UTSW	10	86,803,543 (GRCm39)	missense	possibly damaging	0.95
R4773:Stab2	UTSW	10	86,743,235 (GRCm39)	nonsense	probably null
R4825:Stab2	UTSW	10	86,783,011 (GRCm39)	missense	probably benign	0.08
R4865:Stab2	UTSW	10	86,679,364 (GRCm39)	splice site	probably null
R4871:Stab2	UTSW	10	86,778,099 (GRCm39)	missense	probably damaging	0.99
R4943:Stab2	UTSW	10	86,790,026 (GRCm39)	missense	probably damaging	0.99
R4981:Stab2	UTSW	10	86,796,087 (GRCm39)	missense	probably benign
R4994:Stab2	UTSW	10	86,785,771 (GRCm39)	missense	probably benign
R4999:Stab2	UTSW	10	86,773,773 (GRCm39)	missense	probably damaging	0.97
R5061:Stab2	UTSW	10	86,743,249 (GRCm39)	missense	probably damaging	1.00
R5072:Stab2	UTSW	10	86,699,422 (GRCm39)	missense	probably benign	0.23
R5073:Stab2	UTSW	10	86,699,422 (GRCm39)	missense	probably benign	0.23
R5074:Stab2	UTSW	10	86,699,422 (GRCm39)	missense	probably benign	0.23
R5134:Stab2	UTSW	10	86,707,674 (GRCm39)	splice site	probably null
R5213:Stab2	UTSW	10	86,743,061 (GRCm39)	missense	probably damaging	0.99
R5508:Stab2	UTSW	10	86,796,143 (GRCm39)	missense	probably benign	0.01
R5530:Stab2	UTSW	10	86,783,026 (GRCm39)	missense	probably benign	0.04
R5540:Stab2	UTSW	10	86,683,989 (GRCm39)	missense	probably benign	0.30
R5839:Stab2	UTSW	10	86,708,555 (GRCm39)	missense	probably damaging	0.97
R5949:Stab2	UTSW	10	86,805,713 (GRCm39)	missense	possibly damaging	0.87
R6015:Stab2	UTSW	10	86,773,906 (GRCm39)	missense	probably damaging	0.99
R6019:Stab2	UTSW	10	86,838,886 (GRCm39)	missense	probably benign	0.00
R6116:Stab2	UTSW	10	86,743,054 (GRCm39)	missense	probably damaging	1.00
R6131:Stab2	UTSW	10	86,719,642 (GRCm39)	splice site	probably null
R6209:Stab2	UTSW	10	86,758,867 (GRCm39)	missense	possibly damaging	0.94
R6243:Stab2	UTSW	10	86,743,025 (GRCm39)	missense	probably damaging	1.00
R6433:Stab2	UTSW	10	86,737,431 (GRCm39)	splice site	probably null
R6787:Stab2	UTSW	10	86,754,948 (GRCm39)	missense	probably benign	0.07
R6841:Stab2	UTSW	10	86,778,054 (GRCm39)	missense	probably damaging	1.00
R6873:Stab2	UTSW	10	86,697,230 (GRCm39)	critical splice donor site	probably null
R7025:Stab2	UTSW	10	86,686,701 (GRCm39)	missense	probably damaging	1.00
R7043:Stab2	UTSW	10	86,706,110 (GRCm39)	missense	probably damaging	0.99
R7047:Stab2	UTSW	10	86,694,016 (GRCm39)	missense	probably damaging	1.00
R7107:Stab2	UTSW	10	86,741,456 (GRCm39)	missense	possibly damaging	0.96
R7214:Stab2	UTSW	10	86,735,705 (GRCm39)	missense	probably damaging	0.99
R7271:Stab2	UTSW	10	86,838,972 (GRCm39)	splice site	probably null
R7291:Stab2	UTSW	10	86,782,084 (GRCm39)	missense	probably damaging	0.96
R7336:Stab2	UTSW	10	86,805,049 (GRCm39)	nonsense	probably null
R7432:Stab2	UTSW	10	86,721,547 (GRCm39)	missense	probably damaging	0.99
R7580:Stab2	UTSW	10	86,705,028 (GRCm39)	missense	probably benign	0.00
R7622:Stab2	UTSW	10	86,709,766 (GRCm39)	missense	possibly damaging	0.65
R7629:Stab2	UTSW	10	86,719,646 (GRCm39)	critical splice donor site	probably null
R7658:Stab2	UTSW	10	86,816,999 (GRCm39)	missense	probably benign	0.12
R7798:Stab2	UTSW	10	86,793,776 (GRCm39)	missense	probably damaging	0.98
R7835:Stab2	UTSW	10	86,708,483 (GRCm39)	missense	probably benign	0.06
R7845:Stab2	UTSW	10	86,832,758 (GRCm39)	missense	probably benign	0.09
R7863:Stab2	UTSW	10	86,808,745 (GRCm39)	missense	probably benign	0.30
R7885:Stab2	UTSW	10	86,714,776 (GRCm39)	missense	probably benign	0.03
R7904:Stab2	UTSW	10	86,790,056 (GRCm39)	nonsense	probably null
R7947:Stab2	UTSW	10	86,681,897 (GRCm39)	missense	probably benign	0.31
R7963:Stab2	UTSW	10	86,683,887 (GRCm39)	critical splice donor site	probably null
R8014:Stab2	UTSW	10	86,686,767 (GRCm39)	missense	possibly damaging	0.78
R8021:Stab2	UTSW	10	86,741,403 (GRCm39)	missense	possibly damaging	0.69
R8024:Stab2	UTSW	10	86,681,916 (GRCm39)	missense	probably benign	0.34
R8097:Stab2	UTSW	10	86,704,959 (GRCm39)	missense	possibly damaging	0.86
R8281:Stab2	UTSW	10	86,709,728 (GRCm39)	missense	probably damaging	0.98
R8462:Stab2	UTSW	10	86,803,598 (GRCm39)	missense	possibly damaging	0.79
R8670:Stab2	UTSW	10	86,776,587 (GRCm39)	missense	probably damaging	1.00
R8692:Stab2	UTSW	10	86,808,794 (GRCm39)	missense	probably damaging	0.99
R8744:Stab2	UTSW	10	86,805,213 (GRCm39)	missense	probably benign	0.32
R8745:Stab2	UTSW	10	86,805,213 (GRCm39)	missense	probably benign	0.32
R8782:Stab2	UTSW	10	86,735,685 (GRCm39)	missense	probably benign	0.00
R8875:Stab2	UTSW	10	86,832,728 (GRCm39)	missense	probably damaging	1.00
R8978:Stab2	UTSW	10	86,785,782 (GRCm39)	missense	possibly damaging	0.64
R9141:Stab2	UTSW	10	86,704,911 (GRCm39)	missense	probably damaging	1.00
R9248:Stab2	UTSW	10	86,727,481 (GRCm39)	missense	probably damaging	0.98
R9326:Stab2	UTSW	10	86,791,010 (GRCm39)	missense	probably damaging	1.00
R9426:Stab2	UTSW	10	86,704,911 (GRCm39)	missense	probably damaging	1.00
R9568:Stab2	UTSW	10	86,699,420 (GRCm39)	missense	probably damaging	1.00
R9627:Stab2	UTSW	10	86,793,704 (GRCm39)	missense	probably damaging	0.98
R9635:Stab2	UTSW	10	86,686,651 (GRCm39)	nonsense	probably null
R9648:Stab2	UTSW	10	86,692,561 (GRCm39)	frame shift	probably null
R9649:Stab2	UTSW	10	86,692,561 (GRCm39)	frame shift	probably null
R9650:Stab2	UTSW	10	86,692,561 (GRCm39)	frame shift	probably null
R9726:Stab2	UTSW	10	86,790,095 (GRCm39)	missense	probably benign	0.00
R9756:Stab2	UTSW	10	86,803,553 (GRCm39)	missense	possibly damaging	0.50
R9786:Stab2	UTSW	10	86,757,997 (GRCm39)	missense	probably benign	0.03
RF061:Stab2	UTSW	10	86,702,622 (GRCm39)	critical splice acceptor site	probably benign
X0023:Stab2	UTSW	10	86,758,062 (GRCm39)	critical splice acceptor site	probably null
X0025:Stab2	UTSW	10	86,723,680 (GRCm39)	missense	probably damaging	1.00
Z1176:Stab2	UTSW	10	86,785,778 (GRCm39)	missense	probably damaging	0.99
Z1177:Stab2	UTSW	10	86,732,460 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21