Mutagenetix > Incidental Mutation

Incidental Mutation 'R2869:Habp2'

475551

Institutional Source

Beutler Lab

Gene Symbol

Habp2

Ensembl Gene

ENSMUSG00000025075

Gene Name

hyaluronic acid binding protein 2

Synonyms

FSAP

MMRRC Submission

040457-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56275569-56309254 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 56276423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078284] [ENSMUST00000095948] [ENSMUST00000166049] [ENSMUST00000171341]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078284

SMART Domains

Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
EGF	70	103	4.66e-6	SMART
EGF	108	142	3.97e0	SMART
EGF	147	182	2.26e-4	SMART
KR	186	272	2.72e-39	SMART
Tryp_SPc	307	544	1.47e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095948

SMART Domains

Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EGF	33	66	4.66e-6	SMART
EGF	71	105	3.97e0	SMART
EGF	110	145	2.26e-4	SMART
KR	149	235	2.72e-39	SMART
Tryp_SPc	270	507	1.47e-90	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165407

Predicted Effect

probably benign
Transcript: ENSMUST00000166049

SMART Domains

Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
EGF	70	103	4.66e-6	SMART
EGF	108	142	3.97e0	SMART
EGF	147	182	2.26e-4	SMART
KR	186	272	2.72e-39	SMART
Tryp_SPc	302	539	1.47e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171341

SMART Domains

Protein: ENSMUSP00000126235
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
EGF	70	103	4.66e-6	SMART
EGF	108	142	3.97e0	SMART
EGF	147	182	2.26e-4	SMART
KR	186	272	2.72e-39	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Ccl27a	C	T	4: 41,769,640 (GRCm39)	R73Q	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Ggt6	A	T	11: 72,328,187 (GRCm39)	N229I	probably benign	Het
Gm26902	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gsdme	A	T	6: 50,185,157 (GRCm39)	C432*	probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 166,947,855 (GRCm39)	L331P	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Krt13	A	G	11: 100,008,475 (GRCm39)	S421P	unknown	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,012,534 (GRCm39)	S321*	probably null	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Meikin	T	C	11: 54,264,333 (GRCm39)	V103A	possibly damaging	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Nbn	T	A	4: 15,963,810 (GRCm39)	D70E	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nwd2	A	T	5: 63,957,671 (GRCm39)	I334L	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or4k2	T	C	14: 50,423,811 (GRCm39)	T288A	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Serinc2	A	G	4: 130,159,005 (GRCm39)	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tprg1	T	C	16: 25,231,590 (GRCm39)	W189R	probably damaging	Het
Trim32	A	G	4: 65,532,694 (GRCm39)	D417G	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	Het

Other mutations in Habp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Habp2	APN	19	56,306,264 (GRCm39)	missense	probably damaging	1.00
IGL01113:Habp2	APN	19	56,298,548 (GRCm39)	missense	probably benign	0.13
IGL01737:Habp2	APN	19	56,304,739 (GRCm39)	missense	probably benign	0.00
IGL02174:Habp2	APN	19	56,300,169 (GRCm39)	missense	probably damaging	0.96
IGL02250:Habp2	APN	19	56,297,361 (GRCm39)	missense	probably benign	0.00
IGL02706:Habp2	APN	19	56,298,570 (GRCm39)	critical splice donor site	probably null
IGL02953:Habp2	APN	19	56,302,664 (GRCm39)	critical splice donor site	probably null
IGL02986:Habp2	APN	19	56,299,624 (GRCm39)	missense	probably benign	0.25
IGL03010:Habp2	APN	19	56,299,655 (GRCm39)	critical splice donor site	probably null
R0415:Habp2	UTSW	19	56,306,149 (GRCm39)	unclassified	probably benign
R0483:Habp2	UTSW	19	56,304,864 (GRCm39)	unclassified	probably benign
R0627:Habp2	UTSW	19	56,302,478 (GRCm39)	missense	probably damaging	1.00
R1188:Habp2	UTSW	19	56,300,154 (GRCm39)	missense	probably benign	0.39
R1880:Habp2	UTSW	19	56,306,260 (GRCm39)	missense	possibly damaging	0.83
R2214:Habp2	UTSW	19	56,306,249 (GRCm39)	missense	possibly damaging	0.88
R2473:Habp2	UTSW	19	56,276,464 (GRCm39)	missense	possibly damaging	0.92
R2871:Habp2	UTSW	19	56,276,423 (GRCm39)	unclassified	probably benign
R3917:Habp2	UTSW	19	56,299,611 (GRCm39)	missense	probably damaging	1.00
R3969:Habp2	UTSW	19	56,300,133 (GRCm39)	missense	probably damaging	1.00
R4014:Habp2	UTSW	19	56,308,054 (GRCm39)	missense	probably benign	0.04
R4853:Habp2	UTSW	19	56,299,623 (GRCm39)	splice site	probably null
R5835:Habp2	UTSW	19	56,295,218 (GRCm39)	missense	probably benign	0.16
R6270:Habp2	UTSW	19	56,295,295 (GRCm39)	missense	possibly damaging	0.93
R6390:Habp2	UTSW	19	56,295,255 (GRCm39)	missense	possibly damaging	0.63
R7110:Habp2	UTSW	19	56,299,596 (GRCm39)	nonsense	probably null
R7268:Habp2	UTSW	19	56,302,518 (GRCm39)	missense	probably damaging	1.00
R7456:Habp2	UTSW	19	56,307,957 (GRCm39)	missense	probably damaging	1.00
R7583:Habp2	UTSW	19	56,300,236 (GRCm39)	missense	probably benign	0.03
R8021:Habp2	UTSW	19	56,302,485 (GRCm39)	missense	probably benign	0.04
R8354:Habp2	UTSW	19	56,301,388 (GRCm39)	nonsense	probably null
R8383:Habp2	UTSW	19	56,304,768 (GRCm39)	missense	probably damaging	1.00
R8813:Habp2	UTSW	19	56,295,216 (GRCm39)	missense	probably benign	0.08
R9140:Habp2	UTSW	19	56,307,934 (GRCm39)	missense	probably benign	0.03
R9367:Habp2	UTSW	19	56,304,781 (GRCm39)	missense	probably damaging	1.00
R9515:Habp2	UTSW	19	56,295,253 (GRCm39)	missense	probably benign	0.00
Z1176:Habp2	UTSW	19	56,306,192 (GRCm39)	missense	probably damaging	1.00
Z1177:Habp2	UTSW	19	56,307,985 (GRCm39)	frame shift	probably null

Predicted Primers

Posted On

2017-05-11