Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Habp2'

617410

Institutional Source

Beutler Lab

Gene Symbol

Habp2

Ensembl Gene

ENSMUSG00000025075

Gene Name

hyaluronic acid binding protein 2

Synonyms

FSAP

MMRRC Submission

067460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56275569-56309254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56302485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 263 (V263E)

Ref Sequence

ENSEMBL: ENSMUSP00000093641 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078284
AA Change: V300E

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075
AA Change: V300E

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
AA Change: V263E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075
AA Change: V263E

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
AA Change: V69E

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128964
Gene: ENSMUSG00000025075
AA Change: V69E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165522
AA Change: V33E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130809
Gene: ENSMUSG00000025075
AA Change: V33E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166049
AA Change: V295E

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075
AA Change: V295E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 106,916,753 (GRCm39)	I12V	unknown	Het
A630010A05Rik	C	T	16: 14,407,110 (GRCm39)	T13I		Het
Acsm5	A	G	7: 119,141,616 (GRCm39)	E537G	possibly damaging	Het
Adam25	C	A	8: 41,207,796 (GRCm39)	A354E	probably damaging	Het
Adamts3	T	C	5: 89,831,043 (GRCm39)	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,550,135 (GRCm39)	V699L	probably benign	Het
Arel1	T	G	12: 84,981,732 (GRCm39)	H216P	possibly damaging	Het
Armc12	T	A	17: 28,749,879 (GRCm39)	F8I	probably benign	Het
Armh3	C	T	19: 45,945,180 (GRCm39)		probably null	Het
Ascc3	T	A	10: 50,607,744 (GRCm39)	M1416K	probably benign	Het
Catsperb	A	C	12: 101,554,322 (GRCm39)	N672T	probably benign	Het
Ccdc30	T	C	4: 119,209,876 (GRCm39)	H291R	probably benign	Het
Cd33	A	G	7: 43,178,262 (GRCm39)	V371A	unknown	Het
Cpt1b	A	T	15: 89,305,629 (GRCm39)	M362K	probably benign	Het
Dusp5	T	A	19: 53,517,929 (GRCm39)	S61T	probably benign	Het
Eogt	T	G	6: 97,111,291 (GRCm39)	D190A	probably damaging	Het
Fat3	T	A	9: 15,910,405 (GRCm39)	I1866F	probably damaging	Het
Fer1l4	T	A	2: 155,864,511 (GRCm39)	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,355,161 (GRCm39)	M1K	probably null	Het
Frs3	T	A	17: 48,014,039 (GRCm39)	V244E	probably damaging	Het
Grik1	C	T	16: 87,711,110 (GRCm39)	V832I		Het
Gtf2ird2	T	A	5: 134,232,175 (GRCm39)	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,475,195 (GRCm39)	R97C	possibly damaging	Het
Iars2	T	A	1: 185,054,654 (GRCm39)	I337L	probably benign	Het
Ifi204	T	C	1: 173,586,919 (GRCm39)		probably benign	Het
Itih2	T	C	2: 10,110,463 (GRCm39)	T543A	probably benign	Het
Kdm2b	A	G	5: 123,070,982 (GRCm39)	S372P	probably damaging	Het
Kit	T	A	5: 75,776,151 (GRCm39)	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,492,117 (GRCm39)	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,825,674 (GRCm39)	I498T	probably damaging	Het
Lrp1	G	T	10: 127,384,215 (GRCm39)	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,216,760 (GRCm39)	S477T	possibly damaging	Het
Mast3	C	T	8: 71,240,896 (GRCm39)	G218S	probably benign	Het
Mical1	T	C	10: 41,358,720 (GRCm39)	V546A	probably damaging	Het
Nck2	T	C	1: 43,593,420 (GRCm39)	V209A	probably benign	Het
Ndufs4	A	G	13: 114,444,351 (GRCm39)		probably null	Het
Nek3	C	T	8: 22,647,206 (GRCm39)	V139M	probably damaging	Het
Or10v5	T	C	19: 11,806,256 (GRCm39)	I45V	probably benign	Het
Or5ak24	A	T	2: 85,260,996 (GRCm39)	M59K	probably damaging	Het
Or7e171-ps1	A	C	9: 19,853,375 (GRCm39)	Y120*	probably null	Het
Or8b9	T	A	9: 37,766,592 (GRCm39)	H159Q	probably damaging	Het
Otog	A	T	7: 45,916,766 (GRCm39)	N901I	probably damaging	Het
Pclo	A	C	5: 14,589,798 (GRCm39)	Q699H	unknown	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde12	A	T	14: 26,386,854 (GRCm39)	Y551*	probably null	Het
Pigg	A	G	5: 108,467,805 (GRCm39)	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,856,935 (GRCm39)	D130G	probably benign	Het
Psip1	T	C	4: 83,378,192 (GRCm39)	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,596,840 (GRCm39)	S189G	probably benign	Het
Rgs14	T	C	13: 55,531,569 (GRCm39)	C498R	probably damaging	Het
Ripply3	C	A	16: 94,129,369 (GRCm39)	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,807,777 (GRCm39)	D676G	probably benign	Het
Rsbn1	T	C	3: 103,835,898 (GRCm39)	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,819,664 (GRCm39)	*415R	probably null	Het
Sephs1	T	A	2: 4,911,434 (GRCm39)	F336Y	probably benign	Het
Setdb2	A	T	14: 59,660,833 (GRCm39)	Y103*	probably null	Het
Slit2	T	A	5: 48,459,834 (GRCm39)	C1371*	probably null	Het
Spata31e4	A	G	13: 50,855,130 (GRCm39)	N256S	possibly damaging	Het
Stab2	C	T	10: 86,741,403 (GRCm39)	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,937,581 (GRCm39)	V218E	probably damaging	Het
Tars2	T	C	3: 95,654,826 (GRCm39)	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,103,448 (GRCm39)	M528T	probably benign	Het
Tchp	A	G	5: 114,856,478 (GRCm39)	E363G	probably damaging	Het
Tec	T	A	5: 72,914,812 (GRCm39)	N568I	probably benign	Het
Ticam1	A	G	17: 56,577,089 (GRCm39)	S669P	unknown	Het
Tnk1	A	G	11: 69,745,810 (GRCm39)	S372P	probably benign	Het
Tnpo2	G	A	8: 85,781,835 (GRCm39)	A847T	probably damaging	Het
Tsc1	A	T	2: 28,576,901 (GRCm39)	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,863,270 (GRCm39)	Y559*	probably null	Het
Ttc41	C	A	10: 86,569,578 (GRCm39)	T652N	probably benign	Het
Tut1	T	A	19: 8,932,873 (GRCm39)	S69T	probably benign	Het
Uck1	T	C	2: 32,149,929 (GRCm39)	S40G	probably benign	Het
Vmn2r76	G	A	7: 85,874,958 (GRCm39)	T673I	probably damaging	Het
Vps13d	G	T	4: 144,875,245 (GRCm39)	P1760H		Het
Zbp1	T	C	2: 173,051,003 (GRCm39)	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,274,882 (GRCm39)		probably benign	Het
Zzef1	A	T	11: 72,714,242 (GRCm39)	D244V	probably damaging	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
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
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'- AAACAACATATCGAAGGTGTGCC -3'
(R):5'- TCCCCATGGATACCTACTCG -3'

Sequencing Primer
(F):5'- ACATATCGAAGGTGTGCCATCTC -3'
(R):5'- TACCTACTCGGTACAGTGGG -3'

Posted On

2020-01-23