Mutagenetix > Incidental Mutation

Incidental Mutation 'R7268:Habp2'

565113

Institutional Source

Beutler Lab

Gene Symbol

Habp2

Ensembl Gene

ENSMUSG00000025075

Gene Name

hyaluronic acid binding protein 2

Synonyms

FSAP

MMRRC Submission

045319-MU

Accession Numbers

Essential gene?

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

Stock #

R7268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56275569-56309254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56302518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 274 (G274V)

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 damaging
Transcript: ENSMUST00000078284
AA Change: G311V

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

SMART Domains

Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075
AA Change: G311V

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: G274V

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

SMART Domains

Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075
AA Change: G274V

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 damaging
Transcript: ENSMUST00000163502
AA Change: G80V

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

SMART Domains

Protein: ENSMUSP00000128964
Gene: ENSMUSG00000025075
AA Change: G80V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165522
AA Change: G44V

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

SMART Domains

Protein: ENSMUSP00000130809
Gene: ENSMUSG00000025075
AA Change: G44V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166049
AA Change: G306V

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

SMART Domains

Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075
AA Change: G306V

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,461,509 (GRCm39)		probably null	Het
Acsf3	A	G	8: 123,517,401 (GRCm39)	Y399C	probably benign	Het
Acsm5	A	T	7: 119,136,511 (GRCm39)	T361S	probably benign	Het
Agap1	T	G	1: 89,694,070 (GRCm39)	I456S	probably benign	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Alb	T	A	5: 90,610,575 (GRCm39)	S52T	probably benign	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Armt1	G	A	10: 4,400,855 (GRCm39)	V201M	possibly damaging	Het
Atp2a2	T	C	5: 122,605,792 (GRCm39)	T388A	probably benign	Het
Atp6v0a2	T	C	5: 124,796,930 (GRCm39)	L770P	probably damaging	Het
B4galnt3	A	T	6: 120,192,003 (GRCm39)	W578R	possibly damaging	Het
Babam2	T	C	5: 31,859,197 (GRCm39)	S2P	probably damaging	Het
Baz2a	A	G	10: 127,960,090 (GRCm39)	H1459R	possibly damaging	Het
Bbs7	C	T	3: 36,658,575 (GRCm39)	R233Q	probably benign	Het
Cacna2d1	G	A	5: 16,575,586 (GRCm39)	G1076R	probably damaging	Het
Camsap2	C	T	1: 136,201,483 (GRCm39)		probably null	Het
Car10	A	G	11: 93,490,077 (GRCm39)	N273D	probably benign	Het
Ccdc66	T	C	14: 27,208,880 (GRCm39)	D458G	probably benign	Het
Ccdc7a	T	A	8: 129,607,633 (GRCm39)	H982L	possibly damaging	Het
Col9a1	A	G	1: 24,246,479 (GRCm39)	K386E	possibly damaging	Het
Ctcfl	A	G	2: 172,949,588 (GRCm39)	I415T	probably benign	Het
Cyp3a16	G	C	5: 145,404,280 (GRCm39)	Y54*	probably null	Het
Dact2	T	C	17: 14,416,797 (GRCm39)	T468A	probably benign	Het
Dgkb	T	A	12: 38,197,554 (GRCm39)	L355*	probably null	Het
Dhx40	A	T	11: 86,697,442 (GRCm39)	C42S	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dop1a	G	T	9: 86,394,830 (GRCm39)	E637*	probably null	Het
Dpp4	G	T	2: 62,178,186 (GRCm39)	P649T	probably damaging	Het
Eri3	T	A	4: 117,506,580 (GRCm39)	I303K	probably benign	Het
Foxi1	A	T	11: 34,155,783 (GRCm39)	Y282*	probably null	Het
Gdi2	T	A	13: 3,606,363 (GRCm39)	Y146*	probably null	Het
Gns	A	G	10: 121,212,557 (GRCm39)	Y173C	probably damaging	Het
Gpc1	C	A	1: 92,786,093 (GRCm39)	P494Q	possibly damaging	Het
Hcfc2	T	A	10: 82,544,846 (GRCm39)	Y159*	probably null	Het
Hmcn2	T	A	2: 31,347,978 (GRCm39)	S4875T	possibly damaging	Het
Hmgcs2	A	G	3: 98,204,796 (GRCm39)	N318S	probably benign	Het
Lnpep	A	T	17: 17,758,803 (GRCm39)	M847K	probably benign	Het
Mmp16	A	C	4: 18,093,366 (GRCm39)	M374L	probably benign	Het
Mrpl38	A	G	11: 116,029,396 (GRCm39)	I40T	possibly damaging	Het
Ncstn	T	C	1: 171,908,830 (GRCm39)	T46A	possibly damaging	Het
Nlrp1a	C	T	11: 71,015,068 (GRCm39)	V61I	probably benign	Het
Npas2	G	T	1: 39,326,658 (GRCm39)	V48L	probably damaging	Het
Or13p5	A	G	4: 118,592,605 (GRCm39)	Y293C	probably damaging	Het
Or52ac1	G	A	7: 104,246,284 (GRCm39)	L35F	probably benign	Het
Or6c6	C	T	10: 129,187,263 (GRCm39)	T277I	possibly damaging	Het
Pcyox1	A	T	6: 86,368,713 (GRCm39)	N268K	possibly damaging	Het
Pramel14	A	T	4: 143,720,090 (GRCm39)		probably null	Het
Prr27	T	C	5: 87,991,135 (GRCm39)	L249P	probably damaging	Het
Psat1	A	T	19: 15,894,508 (GRCm39)	V168D	probably damaging	Het
Psg17	G	T	7: 18,548,586 (GRCm39)	T395K	possibly damaging	Het
Ptgis	A	G	2: 167,048,676 (GRCm39)	Y447H	probably benign	Het
Rad50	T	A	11: 53,575,102 (GRCm39)	N607I	probably benign	Het
Rps6ka2	T	C	17: 7,562,662 (GRCm39)	Y602H	possibly damaging	Het
Senp6	G	A	9: 80,049,406 (GRCm39)	R1010H	probably damaging	Het
Slc8a3	C	A	12: 81,361,827 (GRCm39)	D331Y	probably damaging	Het
Slc9c1	G	A	16: 45,370,479 (GRCm39)	S240N	probably damaging	Het
Slf1	A	G	13: 77,214,826 (GRCm39)	L620P	probably damaging	Het
Snx19	A	G	9: 30,351,473 (GRCm39)	E847G	probably damaging	Het
Spaca6	T	C	17: 18,052,369 (GRCm39)	V103A	probably benign	Het
Tbk1	A	G	10: 121,388,404 (GRCm39)	Y591H	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tfap2a	G	A	13: 40,882,236 (GRCm39)	T15I	possibly damaging	Het
Tgm2	G	A	2: 157,962,188 (GRCm39)	R544*	probably null	Het
Tmem116	T	A	5: 121,605,918 (GRCm39)	I90K		Het
Tmem30c	A	C	16: 57,086,777 (GRCm39)	L342R	probably damaging	Het
Trpm6	C	T	19: 18,755,949 (GRCm39)	T64I	probably benign	Het
Ttll8	A	G	15: 88,819,159 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,816,307 (GRCm39)	I692T	probably damaging	Het
Vmn1r169	T	G	7: 23,276,853 (GRCm39)	F82V	probably benign	Het
Vmn1r178	G	A	7: 23,593,378 (GRCm39)	C142Y	probably benign	Het
Vmn2r16	T	A	5: 109,488,331 (GRCm39)	Y401*	probably null	Het
Wdr91	A	G	6: 34,869,375 (GRCm39)	V383A	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
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'- CCAGCTATGTCCTCCAAAGG -3'
(R):5'- CCTGCCAAAACTTCTGAGGTG -3'

Sequencing Primer
(F):5'- CTCCAAAGGAACGGCTTGTGTG -3'
(R):5'- CCAAAACTTCTGAGGTGTCACTTGG -3'

Posted On

2019-06-26