Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Htra1'

534717

Institutional Source

Beutler Lab

Gene Symbol

Htra1

Ensembl Gene

ENSMUSG00000006205

Gene Name

HtrA serine peptidase 1

Synonyms

Prss11, insulin-like growth factor binding protein 5 protease, RSPP11, L56, HtrA1

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6845 (G1)

Quality Score

202.009

Status

Validated

Chromosome

Chromosomal Location

130537933-130587388 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 130538021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006367] [ENSMUST00000124096]

AlphaFold

Q9R118

Predicted Effect

unknown
Transcript: ENSMUST00000006367
AA Change: T7K

SMART Domains

Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: T7K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IB	35	112	2.49e-24	SMART
KAZAL	109	155	4.28e-13	SMART
Pfam:Trypsin	192	364	3.5e-17	PFAM
Pfam:Trypsin_2	204	342	3.1e-35	PFAM
PDZ	381	466	7.48e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Meta Mutation Damage Score

0.0668

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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 trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology. Mice homozygous for a different allele exhibit increased bone volume and increased trabecular bone thickness without body weight gain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		probably benign	Het

Other mutations in Htra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Htra1	APN	7	130,538,108 (GRCm39)	missense	probably benign
IGL02500:Htra1	APN	7	130,586,704 (GRCm39)	missense	probably benign	0.01
IGL02708:Htra1	APN	7	130,563,765 (GRCm39)	missense	probably damaging	1.00
IGL03341:Htra1	APN	7	130,583,444 (GRCm39)	missense	probably benign	0.04
R0045:Htra1	UTSW	7	130,563,262 (GRCm39)	missense	probably damaging	1.00
R0045:Htra1	UTSW	7	130,563,262 (GRCm39)	missense	probably damaging	1.00
R0387:Htra1	UTSW	7	130,581,208 (GRCm39)	missense	probably damaging	1.00
R0681:Htra1	UTSW	7	130,581,027 (GRCm39)	intron	probably benign
R0963:Htra1	UTSW	7	130,584,009 (GRCm39)	missense	possibly damaging	0.75
R1244:Htra1	UTSW	7	130,586,799 (GRCm39)	missense	possibly damaging	0.87
R1892:Htra1	UTSW	7	130,586,799 (GRCm39)	missense	possibly damaging	0.87
R2279:Htra1	UTSW	7	130,563,752 (GRCm39)	missense	probably damaging	1.00
R4084:Htra1	UTSW	7	130,538,074 (GRCm39)	missense	probably benign	0.00
R4774:Htra1	UTSW	7	130,586,756 (GRCm39)	missense	probably benign	0.29
R4880:Htra1	UTSW	7	130,563,813 (GRCm39)	missense	probably damaging	1.00
R4909:Htra1	UTSW	7	130,586,802 (GRCm39)	missense	probably benign	0.43
R5183:Htra1	UTSW	7	130,585,446 (GRCm39)	missense	possibly damaging	0.58
R5819:Htra1	UTSW	7	130,583,469 (GRCm39)	missense	probably damaging	1.00
R5893:Htra1	UTSW	7	130,563,321 (GRCm39)	missense	probably damaging	1.00
R6709:Htra1	UTSW	7	130,537,948 (GRCm39)	intron	probably benign
R9332:Htra1	UTSW	7	130,563,851 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGAGAAACTGAGCCAGCCG -3'
(R):5'- AAGGGCACTACGCATTGCAG -3'

Sequencing Primer
(F):5'- GCAGGCAGTCCCCGATC -3'
(R):5'- ACGCATTGCAGCCCCTC -3'

Posted On

2018-09-12