Mutagenetix > Incidental Mutation

Incidental Mutation 'R3917:Habp2'

307393

Institutional Source

Beutler Lab

Gene Symbol

Habp2

Ensembl Gene

ENSMUSG00000025075

Gene Name

hyaluronic acid binding protein 2

Synonyms

FSAP

MMRRC Submission

040914-MU

Accession Numbers

Essential gene?

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

Stock #

R3917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56275569-56309254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56299611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 170 (C170S)

Ref Sequence

ENSEMBL: ENSMUSP00000126235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078284] [ENSMUST00000095948] [ENSMUST00000163502] [ENSMUST00000165522] [ENSMUST00000166049] [ENSMUST00000171341]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078284
AA Change: C170S

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

SMART Domains

Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075
AA Change: C170S

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 damaging
Transcript: ENSMUST00000095948
AA Change: C133S

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

SMART Domains

Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075
AA Change: C133S

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

probably benign
Transcript: ENSMUST00000163502

SMART Domains

Protein: ENSMUSP00000128964
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
KR	1	41	5.87e-6	SMART
Tryp_SPc	76	220	5.6e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165407

Predicted Effect

probably benign
Transcript: ENSMUST00000165522

SMART Domains

Protein: ENSMUSP00000130809
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
Pfam:Trypsin	41	106	6.4e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166049
AA Change: C170S

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

SMART Domains

Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075
AA Change: C170S

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 damaging
Transcript: ENSMUST00000171341
AA Change: C170S

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

SMART Domains

Protein: ENSMUSP00000126235
Gene: ENSMUSG00000025075
AA Change: C170S

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

Meta Mutation Damage Score

0.9688

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,737,277 (GRCm39)	V498A	probably damaging	Het
Adam19	A	G	11: 45,951,762 (GRCm39)	E37G	probably benign	Het
Apol11b	A	G	15: 77,519,504 (GRCm39)	I192T	probably benign	Het
Appl1	A	T	14: 26,650,561 (GRCm39)	F537Y	probably damaging	Het
Atad5	A	C	11: 79,994,120 (GRCm39)	K785N	probably null	Het
Atp1b2	A	G	11: 69,493,901 (GRCm39)	V93A	probably damaging	Het
Bcam	T	C	7: 19,499,375 (GRCm39)	Y216C	probably damaging	Het
Brca2	A	G	5: 150,464,292 (GRCm39)	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,561,453 (GRCm39)	S93A	unknown	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,907,366 (GRCm39)		probably null	Het
Ccdc89	A	G	7: 90,076,033 (GRCm39)	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,441,940 (GRCm39)	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc42bpa	T	C	1: 179,933,719 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,711,258 (GRCm39)	S47P	probably damaging	Het
Cfap43	T	C	19: 47,886,189 (GRCm39)	D142G	probably benign	Het
Cntnap4	C	G	8: 113,602,165 (GRCm39)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,384,362 (GRCm39)	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock7	T	C	4: 98,904,922 (GRCm39)	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,473,379 (GRCm39)	F130I	probably damaging	Het
Gabarapl2	T	A	8: 112,679,028 (GRCm39)	F115L	probably benign	Het
Gm1043	G	A	5: 37,350,285 (GRCm39)		probably benign	Het
Gm12185	A	G	11: 48,806,760 (GRCm39)	F144L	probably benign	Het
Gm21961	A	T	15: 64,886,733 (GRCm39)	D7E	unknown	Het
Gtf3a	A	G	5: 146,892,244 (GRCm39)	K332E	probably benign	Het
Haao	A	G	17: 84,146,228 (GRCm39)		probably null	Het
Heatr3	T	G	8: 88,876,999 (GRCm39)		probably null	Het
Herc1	T	G	9: 66,341,748 (GRCm39)	C1846G	possibly damaging	Het
Hivep3	T	C	4: 119,956,624 (GRCm39)	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,286,625 (GRCm39)	E3648G	probably damaging	Het
Jaml	T	C	9: 45,012,449 (GRCm39)		probably benign	Het
Jund	C	T	8: 71,151,673 (GRCm39)		probably benign	Het
Klra14-ps	T	C	6: 130,134,595 (GRCm39)		noncoding transcript	Het
Krt88	G	A	15: 101,350,809 (GRCm39)		probably null	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,412,101 (GRCm39)	D105V	probably damaging	Het
Mst1	A	G	9: 107,961,494 (GRCm39)	I575V	probably benign	Het
Myd88	T	C	9: 119,170,464 (GRCm39)		probably benign	Het
Myo1d	A	T	11: 80,557,404 (GRCm39)	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,060,002 (GRCm39)	Y33H	probably damaging	Het
Nwd1	T	A	8: 73,394,439 (GRCm39)	C608*	probably null	Het
Or10al2	T	A	17: 37,983,684 (GRCm39)	F257I	probably damaging	Het
Or8b37	A	T	9: 37,958,841 (GRCm39)	I108F	probably damaging	Het
Patj	A	T	4: 98,480,245 (GRCm39)	K1317*	probably null	Het
Pld5	A	G	1: 175,791,504 (GRCm39)	S501P	probably benign	Het
Pnpo	A	G	11: 96,830,583 (GRCm39)	V146A	probably damaging	Het
Ppdpf	A	G	2: 180,829,521 (GRCm39)	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,441,785 (GRCm39)	V32A	possibly damaging	Het
Rbm28	T	C	6: 29,154,788 (GRCm39)	D294G	probably benign	Het
Sdk1	T	A	5: 142,036,999 (GRCm39)	D817E	probably damaging	Het
Shank3	A	G	15: 89,387,587 (GRCm39)	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,899,899 (GRCm39)		probably null	Het
Slc35a5	G	C	16: 44,978,521 (GRCm39)		probably benign	Het
Slc6a5	T	C	7: 49,561,617 (GRCm39)	S50P	probably damaging	Het
Slfn8	A	T	11: 82,907,819 (GRCm39)	Y241*	probably null	Het
Slu7	G	T	11: 43,331,511 (GRCm39)		probably null	Het
Smad2	T	A	18: 76,421,008 (GRCm39)	D82E	probably benign	Het
Spx	A	C	6: 142,359,757 (GRCm39)	E33A	probably damaging	Het
Tdp1	A	G	12: 99,860,976 (GRCm39)	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,236,574 (GRCm39)	I296T	possibly damaging	Het
Tgm1	G	A	14: 55,950,214 (GRCm39)		probably benign	Het
Tnks	A	G	8: 35,320,515 (GRCm39)	S719P	probably damaging	Het
Trip6	A	G	5: 137,311,941 (GRCm39)	C47R	probably benign	Het
Trpv3	A	G	11: 73,174,560 (GRCm39)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,643,547 (GRCm39)	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,223,630 (GRCm39)	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,464,620 (GRCm39)	F557L	probably benign	Het
Zbed5	T	C	5: 129,931,118 (GRCm39)	Y356H	possibly damaging	Het
Zfp1005	T	A	2: 150,108,039 (GRCm39)		probably benign	Het
Zic4	C	A	9: 91,266,394 (GRCm39)		probably benign	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
R2869:Habp2	UTSW	19	56,276,423 (GRCm39)	unclassified	probably benign
R2871:Habp2	UTSW	19	56,276,423 (GRCm39)	unclassified	probably benign
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

PCR Primer
(F):5'- GTATCAATGATCTGTCTGTGCCC -3'
(R):5'- ATAGGCTCTGTGCTCTGAGG -3'

Sequencing Primer
(F):5'- CCCTATGTTGTTCCGTCATTTAGGAG -3'
(R):5'- GCTCTGAGGTTGGAAGACTAG -3'

Posted On

2015-04-17