Mutagenetix > Incidental Mutation

Incidental Mutation 'R7583:Habp2'

586933

Institutional Source

Beutler Lab

Gene Symbol

Habp2

Ensembl Gene

ENSMUSG00000025075

Gene Name

hyaluronic acid binding protein 2

Synonyms

FSAP

MMRRC Submission

045666-MU

Accession Numbers

Essential gene?

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

Stock #

R7583 (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 56300236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 191 (D191E)

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: D228E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075
AA Change: D228E

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: D191E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075
AA Change: D191E

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

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 benign
Transcript: ENSMUST00000166049
AA Change: D228E

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075
AA Change: D228E

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
AA Change: D228E

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126235
Gene: ENSMUSG00000025075
AA Change: D228E

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (95/96)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,569,670 (GRCm39)	D462V	probably damaging	Het
Abcc1	T	C	16: 14,221,902 (GRCm39)	W222R	probably damaging	Het
Adamts13	A	G	2: 26,863,965 (GRCm39)	K48E	probably benign	Het
Adgrd1	A	C	5: 129,256,652 (GRCm39)	T674P	probably benign	Het
Agbl4	A	T	4: 110,976,150 (GRCm39)	Y169F	possibly damaging	Het
Ahnak	T	A	19: 8,983,457 (GRCm39)	N1580K	possibly damaging	Het
Angptl8	A	C	9: 21,747,210 (GRCm39)		probably null	Het
Ap3d1	G	A	10: 80,545,292 (GRCm39)	T1053I	probably benign	Het
Atad2	T	C	15: 57,990,060 (GRCm39)	T139A	probably benign	Het
Bdp1	T	A	13: 100,186,320 (GRCm39)	T1711S	probably damaging	Het
Bod1l	T	C	5: 41,991,133 (GRCm39)	I141V	probably damaging	Het
Cavin2	A	T	1: 51,328,777 (GRCm39)	N78I	possibly damaging	Het
Ccnb1	T	C	13: 100,916,262 (GRCm39)	H406R	probably benign	Het
Cd200r4	A	G	16: 44,653,784 (GRCm39)	T194A	probably damaging	Het
Cdt1	G	A	8: 123,296,995 (GRCm39)	R263H	probably damaging	Het
Cep85l	A	T	10: 53,157,450 (GRCm39)	I751N	probably damaging	Het
Clasp2	A	G	9: 113,737,755 (GRCm39)	D1043G	probably benign	Het
Cmip	A	T	8: 118,181,691 (GRCm39)	N578I	probably damaging	Het
Col2a1	T	G	15: 97,874,065 (GRCm39)	K1440N	unknown	Het
Cpne2	A	T	8: 95,282,209 (GRCm39)	M252L	probably benign	Het
Crb2	A	G	2: 37,680,607 (GRCm39)	T512A	probably benign	Het
Csmd1	A	G	8: 16,048,833 (GRCm39)	Y2290H	probably damaging	Het
Ctnnd1	A	T	2: 84,442,405 (GRCm39)	D642E	probably damaging	Het
Ctns	A	G	11: 73,079,296 (GRCm39)	S141P	probably benign	Het
Cwh43	A	G	5: 73,591,632 (GRCm39)	Q575R	probably benign	Het
Cyp2b19	C	A	7: 26,458,489 (GRCm39)	T68K	probably damaging	Het
Dcaf6	A	G	1: 165,160,879 (GRCm39)	S849P	probably damaging	Het
Dnm3	T	A	1: 162,305,343 (GRCm39)	Q17L	possibly damaging	Het
Enpp3	A	T	10: 24,711,990 (GRCm39)	M1K	probably null	Het
Fam124a	T	A	14: 62,844,008 (GRCm39)	C505*	probably null	Het
Fhip2a	T	A	19: 57,367,034 (GRCm39)	D192E	probably benign	Het
Fsip2	A	G	2: 82,805,585 (GRCm39)	I635V	probably benign	Het
Gm5878	A	T	6: 85,095,682 (GRCm39)		probably null	Het
Gpld1	C	A	13: 25,159,743 (GRCm39)	A437D	probably damaging	Het
Grk5	G	T	19: 61,071,642 (GRCm39)	V401L	possibly damaging	Het
Gucy2g	A	T	19: 55,224,047 (GRCm39)	L259Q	probably damaging	Het
Helz2	T	A	2: 180,879,365 (GRCm39)	H751L	probably benign	Het
Hgsnat	A	G	8: 26,461,592 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,317,716 (GRCm39)	V2064E	probably damaging	Het
Ikbke	C	T	1: 131,204,216 (GRCm39)	A26T	probably damaging	Het
Ivd	C	A	2: 118,692,612 (GRCm39)	D37E	probably damaging	Het
Kif26b	G	A	1: 178,358,010 (GRCm39)	W40*	probably null	Het
Klrc2	A	G	6: 129,636,274 (GRCm39)	S114P	probably damaging	Het
Lama1	A	T	17: 68,068,616 (GRCm39)	T772S		Het
Lamc1	T	A	1: 153,118,978 (GRCm39)	K880N	possibly damaging	Het
Lmf1	G	A	17: 25,874,423 (GRCm39)	D12N		Het
Lpin2	G	T	17: 71,538,391 (GRCm39)	E384*	probably null	Het
Lrrc23	T	C	6: 124,756,541 (GRCm39)		probably benign	Het
Lrrc31	T	C	3: 30,745,248 (GRCm39)		probably null	Het
Luc7l2	A	G	6: 38,528,820 (GRCm39)	Q13R	probably damaging	Het
Ly6c1	G	T	15: 74,920,346 (GRCm39)	H5Q	probably damaging	Het
Lyst	A	T	13: 13,810,472 (GRCm39)	H714L	probably damaging	Het
Man2a2	C	T	7: 80,016,692 (GRCm39)	R374H	probably damaging	Het
Mchr1	A	T	15: 81,121,642 (GRCm39)	T131S	probably benign	Het
Msto1	T	C	3: 88,820,236 (GRCm39)		probably null	Het
Myh1	C	T	11: 67,111,739 (GRCm39)	T1698I	probably benign	Het
Ncapd3	G	T	9: 26,983,144 (GRCm39)	C964F	probably damaging	Het
Nefh	T	C	11: 4,891,089 (GRCm39)	E510G	probably damaging	Het
Or10g3b	T	C	14: 52,587,360 (GRCm39)	T48A	possibly damaging	Het
Or13a24	A	G	7: 140,154,123 (GRCm39)	E19G	probably benign	Het
Or1b1	A	T	2: 36,995,539 (GRCm39)	L41*	probably null	Het
Or1q1	A	C	2: 36,887,092 (GRCm39)	K90T	probably damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
P4ha1	T	A	10: 59,205,462 (GRCm39)	S497R	probably benign	Het
Palb2	T	C	7: 121,726,565 (GRCm39)	D435G	probably benign	Het
Papola	C	T	12: 105,777,304 (GRCm39)	P282L	probably damaging	Het
Pcdhgb1	A	G	18: 37,815,377 (GRCm39)	R623G	probably damaging	Het
Pcolce	T	G	5: 137,605,707 (GRCm39)	K229Q	probably benign	Het
Pkhd1l1	T	C	15: 44,431,760 (GRCm39)		probably null	Het
Ppp6r3	T	A	19: 3,540,790 (GRCm39)	T443S	probably benign	Het
Pramel58	A	T	5: 94,830,753 (GRCm39)	T84S	possibly damaging	Het
Psg20	T	A	7: 18,416,408 (GRCm39)	D236V	probably damaging	Het
Ptgr2	T	G	12: 84,355,179 (GRCm39)	S304R	probably damaging	Het
Ptpn22	A	T	3: 103,809,430 (GRCm39)	D681V	probably benign	Het
Rab3gap1	T	C	1: 127,858,612 (GRCm39)	S574P	probably benign	Het
Slc36a1	A	G	11: 55,104,754 (GRCm39)		probably null	Het
Slc9a5	A	G	8: 106,089,904 (GRCm39)	S621G	possibly damaging	Het
Sntg1	A	G	1: 8,515,249 (GRCm39)		probably null	Het
Snx17	A	G	5: 31,353,877 (GRCm39)	N222D	possibly damaging	Het
Spata19	G	T	9: 27,311,729 (GRCm39)	S116I	possibly damaging	Het
Spn	G	A	7: 126,736,234 (GRCm39)	A91V	probably damaging	Het
Srrm3	T	C	5: 135,881,135 (GRCm39)	V145A	probably benign	Het
St7	A	T	6: 17,942,753 (GRCm39)	T575S	possibly damaging	Het
Taf2	A	T	15: 54,928,072 (GRCm39)	Y110*	probably null	Het
Tcf20	T	C	15: 82,739,477 (GRCm39)	E658G	possibly damaging	Het
Tdrd6	G	T	17: 43,935,129 (GRCm39)	A1973E	probably benign	Het
Tg	T	G	15: 66,636,267 (GRCm39)	L2237W	probably damaging	Het
Ticrr	C	A	7: 79,346,487 (GRCm39)	Y1882*	probably null	Het
Trim45	T	A	3: 100,832,339 (GRCm39)	C191S	probably damaging	Het
Upf3a	G	A	8: 13,835,889 (GRCm39)		probably null	Het
Vmn2r42	A	T	7: 8,197,740 (GRCm39)	L293*	probably null	Het
Vmn2r62	T	A	7: 42,437,466 (GRCm39)	Q339H	possibly damaging	Het
Wdr24	A	T	17: 26,044,804 (GRCm39)	R220W	probably null	Het
Wdr5	T	A	2: 27,408,787 (GRCm39)	S22T	probably benign	Het
Zfp37	G	A	4: 62,110,253 (GRCm39)		probably benign	Het
Zfp735	A	T	11: 73,601,933 (GRCm39)	L292F	possibly damaging	Het
Zfp985	T	A	4: 147,667,946 (GRCm39)	C271*	probably null	Het
Zranb1	G	A	7: 132,585,625 (GRCm39)	R691Q	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
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
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'- TCCCCAAGAATCCTAATTTCGGG -3'
(R):5'- GAACTTCGATGTGCACGAGG -3'

Sequencing Primer
(F):5'- TTTCGGGCAACAAGTCCATG -3'
(R):5'- ACGAGGCCCCGAGACTAG -3'

Posted On

2019-10-24