Mutagenetix > Incidental Mutation

Incidental Mutation 'R2326:Stab2'

244925

Institutional Source

Beutler Lab

Gene Symbol

Stab2

Ensembl Gene

ENSMUSG00000035459

Gene Name

stabilin 2

Synonyms

FEEL-2, STAB-2

MMRRC Submission

040317-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2326 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86677062-86843889 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 86790338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048309 (fasta)

Gene Model

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

AlphaFold

Q8R4U0

Predicted Effect

probably null
Transcript: ENSMUST00000035288

SMART Domains

Protein: ENSMUSP00000048309
Gene: ENSMUSG00000035459

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

Meta Mutation Damage Score

0.9483

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (31/31)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bglap3	G	C	3: 88,276,819 (GRCm39)		probably benign	Het
Cdh3	A	G	8: 107,237,940 (GRCm39)	T45A	probably benign	Het
Cdyl2	A	G	8: 117,350,537 (GRCm39)	V198A	probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cyp7a1	A	T	4: 6,268,396 (GRCm39)	I443K	probably benign	Het
Dazap1	T	A	10: 80,120,067 (GRCm39)	M234K	possibly damaging	Het
Dnmt1	A	T	9: 20,835,442 (GRCm39)		probably benign	Het
Dusp8	A	G	7: 141,643,800 (GRCm39)	Y38H	probably damaging	Het
Ewsr1	A	G	11: 5,041,857 (GRCm39)		probably null	Het
Fem1b	T	C	9: 62,704,285 (GRCm39)	H325R	probably damaging	Het
Flrt3	C	A	2: 140,503,311 (GRCm39)	V106F	possibly damaging	Het
Foxp2	T	A	6: 15,409,938 (GRCm39)	S513T	possibly damaging	Het
Gm5600	G	T	7: 113,307,041 (GRCm39)		noncoding transcript	Het
Haspin	A	G	11: 73,026,911 (GRCm39)	I726T	probably benign	Het
Lama4	T	A	10: 38,918,563 (GRCm39)		probably null	Het
Lrrc7	A	T	3: 157,876,298 (GRCm39)	H597Q	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Plcb4	C	T	2: 135,781,893 (GRCm39)	T238M	probably damaging	Het
Plekhd1	A	G	12: 80,768,873 (GRCm39)		probably null	Het
Prph	C	G	15: 98,953,163 (GRCm39)		probably benign	Het
Rassf2	C	T	2: 131,842,352 (GRCm39)		probably null	Het
Saal1	A	G	7: 46,342,235 (GRCm39)	F403L	probably benign	Het
Serpina3a	C	T	12: 104,082,758 (GRCm39)	T177I	probably benign	Het
Slc23a2	C	T	2: 131,936,115 (GRCm39)	E52K	possibly damaging	Het
Syne3	T	A	12: 104,935,493 (GRCm39)	E95V	probably damaging	Het
Vmn1r58	G	T	7: 5,413,939 (GRCm39)	T97N	probably damaging	Het
Vmn2r61	T	G	7: 41,916,287 (GRCm39)	L300W	probably damaging	Het
Vps13a	T	C	19: 16,720,421 (GRCm39)	E388G	possibly damaging	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
IGL01671:Stab2	APN	10	86,805,141 (GRCm39)	missense	possibly damaging	0.80
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGGGCTTGTCCAACATTG -3'
(R):5'- GAATGCACAGATTTGGATGACTG -3'

Sequencing Primer
(F):5'- CCAACATTGGTTTTCTGCATTTGG -3'
(R):5'- CACAGATTTGGATGACTGGTCAAATC -3'

Posted On

2014-10-30