Mutagenetix > Incidental Mutation

Incidental Mutation 'R5893:Htra1'

457298

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

044094-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130537933-130587388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 130563321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 184 (V184G)

Ref Sequence

ENSEMBL: ENSMUSP00000006367 (fasta)

Gene Model

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

AlphaFold

Q9R118

Predicted Effect

probably damaging
Transcript: ENSMUST00000006367
AA Change: V184G

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

SMART Domains

Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: V184G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153290

Meta Mutation Damage Score

0.8476

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	C	T	4: 144,429,766 (GRCm39)	V408I	probably benign	Het
Ablim1	T	A	19: 57,204,285 (GRCm39)	R35S	probably benign	Het
Acacb	A	T	5: 114,367,912 (GRCm39)	I1637F	probably benign	Het
Adamts18	A	T	8: 114,499,709 (GRCm39)	C402S	probably damaging	Het
Adra2b	T	A	2: 127,206,402 (GRCm39)	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,911,973 (GRCm39)	T263I	probably damaging	Het
Antxr1	T	C	6: 87,114,241 (GRCm39)	I509V	probably benign	Het
Bahcc1	A	G	11: 120,176,256 (GRCm39)	E1967G	probably damaging	Het
Brap	T	A	5: 121,817,405 (GRCm39)	Y337*	probably null	Het
Brca2	T	C	5: 150,492,603 (GRCm39)	V3206A	probably benign	Het
Cacna1e	A	T	1: 154,313,069 (GRCm39)	F1486I	probably damaging	Het
Cbx4	A	G	11: 118,973,016 (GRCm39)	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,388,800 (GRCm39)	Q137L	probably benign	Het
Ceacam12	A	G	7: 17,803,299 (GRCm39)	D235G	probably damaging	Het
Celsr1	A	G	15: 85,788,215 (GRCm39)	V2679A	probably benign	Het
Champ1	C	T	8: 13,928,777 (GRCm39)	P312S	probably benign	Het
Chst5	A	G	8: 112,616,828 (GRCm39)	L264S	probably damaging	Het
Cip2a	A	G	16: 48,817,863 (GRCm39)	S78G	probably benign	Het
Colec10	T	A	15: 54,274,185 (GRCm39)	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,008,353 (GRCm39)	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Dlat	A	G	9: 50,555,439 (GRCm39)		probably benign	Het
Dmxl2	A	G	9: 54,294,704 (GRCm39)	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,496,944 (GRCm39)	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,099,811 (GRCm39)	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,459 (GRCm39)	E948G	probably benign	Het
Eps8l2	C	T	7: 140,937,537 (GRCm39)	R384C	probably damaging	Het
Fam174a	A	T	1: 95,252,884 (GRCm39)	N162I	probably damaging	Het
Fbp2	T	A	13: 62,984,916 (GRCm39)	N335I	probably benign	Het
Foxred2	C	A	15: 77,831,344 (GRCm39)	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,719,283 (GRCm39)	D200E	probably damaging	Het
Gdf15	A	T	8: 71,082,473 (GRCm39)	V211E	possibly damaging	Het
Gm6214	A	G	3: 140,545,107 (GRCm39)		noncoding transcript	Het
Havcr2	A	G	11: 46,347,143 (GRCm39)	Y40C	probably damaging	Het
Hydin	A	T	8: 111,217,308 (GRCm39)	I1399F	probably benign	Het
Igtp	T	C	11: 58,097,474 (GRCm39)	L215P	probably damaging	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Lap3	T	C	5: 45,668,621 (GRCm39)		probably benign	Het
Lgalsl2	A	T	7: 5,362,623 (GRCm39)	T85S	probably benign	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,540 (GRCm39)	V173E	probably damaging	Het
Nat10	A	C	2: 103,552,184 (GRCm39)		probably benign	Het
Ndfip2	T	A	14: 105,532,291 (GRCm39)	V229E	probably damaging	Het
Nefh	G	A	11: 4,891,323 (GRCm39)	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,434,832 (GRCm39)	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,090,841 (GRCm39)	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,490,042 (GRCm39)	S221G	probably benign	Het
Orc4	G	T	2: 48,795,559 (GRCm39)	S389*	probably null	Het
P4hb	A	G	11: 120,462,476 (GRCm39)	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,508,623 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,938 (GRCm39)		probably benign	Het
Poglut1	C	T	16: 38,349,957 (GRCm39)	R272Q	probably damaging	Het
Pramel26	T	A	4: 143,537,038 (GRCm39)	Y431F	probably damaging	Het
Rdh5	T	C	10: 128,750,090 (GRCm39)		probably null	Het
Rogdi	A	T	16: 4,831,258 (GRCm39)	L3*	probably null	Het
Skap1	T	C	11: 96,472,224 (GRCm39)	*166Q	probably null	Het
Slc38a4	A	G	15: 96,897,432 (GRCm39)	I461T	probably benign	Het
Snx31	A	C	15: 36,523,601 (GRCm39)	I360M	probably damaging	Het
Spata22	A	T	11: 73,227,073 (GRCm39)	K96*	probably null	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Trip12	A	C	1: 84,736,884 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,266,709 (GRCm39)		probably null	Het
Upk3a	A	C	15: 84,903,538 (GRCm39)	D79A	probably damaging	Het
Uts2r	A	T	11: 121,052,105 (GRCm39)	Y323F	probably benign	Het
Vmn2r1	A	T	3: 63,993,974 (GRCm39)	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,810,121 (GRCm39)		probably null	Het
Wnt7b	A	G	15: 85,465,575 (GRCm39)		probably benign	Het
Zfp410	T	A	12: 84,384,385 (GRCm39)		probably null	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
R6709:Htra1	UTSW	7	130,537,948 (GRCm39)	intron	probably benign
R6845:Htra1	UTSW	7	130,538,021 (GRCm39)	intron	probably benign
R9332:Htra1	UTSW	7	130,563,851 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTCATGTATGTTCTACACATGTG -3'
(R):5'- CCTGGGAATCACTTCAGAGC -3'

Sequencing Primer
(F):5'- CACATATATGGAAGTGCTTGTATGTG -3'
(R):5'- CCTGGGAATCACTTCAGAGCTAGAAG -3'

Posted On

2017-02-15