Mutagenetix > Incidental Mutations

Incidental Mutation 'R4909:Htra1'

379292

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

042511-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4909 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130936111-130985660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130985072 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 462 (V462I)

Ref Sequence

ENSEMBL: ENSMUSP00000006367 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000006367
AA Change: V462I

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: V462I

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: ENSMUST00000140741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153290

Meta Mutation Damage Score

0.1043

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,815,088		noncoding transcript	Het
A830010M20Rik	C	T	5: 107,507,310	Q992*	probably null	Het
Aars	G	A	8: 111,055,083	G929D	probably damaging	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Actn4	A	T	7: 28,898,657	L506Q	probably damaging	Het
Adam26a	A	T	8: 43,570,438	F5Y	probably benign	Het
Adamts5	G	A	16: 85,900,066	Q68*	probably null	Het
Adcy9	A	G	16: 4,298,754	I871T	probably benign	Het
Ak5	A	T	3: 152,655,877	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,105,026		probably null	Het
Ap2a1	G	A	7: 44,906,381	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,915,241	D60G	possibly damaging	Het
Apold1	G	A	6: 134,983,595	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,334,028	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,498,029	I622S	probably damaging	Het
Bmper	G	T	9: 23,377,725	V339F	probably benign	Het
C1ra	A	G	6: 124,522,334	D493G	probably damaging	Het
C3	C	T	17: 57,226,830		probably null	Het
Cabp4	T	A	19: 4,137,121	I209F	possibly damaging	Het
Cacna1s	A	T	1: 136,079,604	H453L	probably damaging	Het
Camk2g	A	G	14: 20,792,584	V32A	probably benign	Het
Ccdc175	G	A	12: 72,159,753	R240C	probably damaging	Het
Cdk13	C	T	13: 17,772,403	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,529,876	T24S	probably benign	Het
Clca1	T	G	3: 145,024,563	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058		probably benign	Het
Colgalt1	A	T	8: 71,620,633	I323F	possibly damaging	Het
Cpeb3	T	C	19: 37,174,233	S248G	possibly damaging	Het
Cpeb3	A	T	19: 37,174,659	S106T	probably damaging	Het
Ctcfl	C	T	2: 173,095,398	A576T	probably benign	Het
Cyp4f16	T	G	17: 32,550,321	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,766,255	G605S	probably damaging	Het
Egflam	A	T	15: 7,219,629	F903I	probably damaging	Het
Eif5a	G	A	11: 69,917,485	A62V	possibly damaging	Het
Fam217a	A	G	13: 34,910,406	S609P	probably damaging	Het
Fhad1	T	A	4: 141,985,511	I206F	probably benign	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Fras1	T	A	5: 96,708,758	M2000K	probably benign	Het
Frmd5	C	T	2: 121,591,653		probably null	Het
Gle1	T	C	2: 29,936,080	L57P	probably benign	Het
Glrx3	C	A	7: 137,445,036	N52K	probably damaging	Het
Grin3b	A	G	10: 79,977,104	*1004W	probably null	Het
Hectd4	T	A	5: 121,263,891	F347L	probably benign	Het
Itga11	A	G	9: 62,755,299	Y518C	probably damaging	Het
Krtap15	T	C	16: 88,829,365	F88L	probably benign	Het
Ktn1	A	T	14: 47,706,460	R866W	probably damaging	Het
Lamb1	G	A	12: 31,288,281	R483H	probably damaging	Het
Megf6	C	T	4: 154,265,391	R983C	probably damaging	Het
Mybpc3	T	A	2: 91,134,812	D1075E	probably benign	Het
Myo7b	A	T	18: 31,964,436	N1792K	probably benign	Het
Nabp2	A	T	10: 128,401,687		probably benign	Het
Neil3	A	G	8: 53,638,893	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,319,597	I491F	possibly damaging	Het
Obscn	A	G	11: 59,061,465	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,197,492	S139P	probably damaging	Het
Olfr374	A	G	8: 72,109,581	N5S	probably damaging	Het
Olfr418	A	T	1: 173,270,979	D268V	probably damaging	Het
Olfr682-ps1	C	A	7: 105,128,228	V70L	probably benign	Het
Olfr800	A	G	10: 129,660,720	I305V	probably benign	Het
Oog2	T	C	4: 144,195,099	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,688,716	D70G	probably benign	Het
Padi3	T	C	4: 140,795,626	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,615,420	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,754,629		probably benign	Het
Pigr	A	C	1: 130,848,458	T577P	possibly damaging	Het
Pirb	G	A	7: 3,719,362	Q161*	probably null	Het
Pnlip	A	G	19: 58,676,240	E204G	possibly damaging	Het
Pop7	G	T	5: 137,501,899	D57E	probably benign	Het
Ppfia4	A	T	1: 134,332,501	I8N	probably damaging	Het
Pprc1	A	G	19: 46,064,319	T759A	probably damaging	Het
Prom1	T	C	5: 44,045,552	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,952,036		probably null	Het
Prop1	A	T	11: 50,952,045	L105H	probably damaging	Het
Pwp2	A	T	10: 78,182,494	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,983,748	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,157,003		probably benign	Het
Rxfp1	A	G	3: 79,644,802	S731P	probably benign	Het
Scfd1	T	C	12: 51,390,412	V137A	probably benign	Het
Slc6a15	G	A	10: 103,404,414	D333N	probably damaging	Het
Sqor	T	C	2: 122,785,181	V74A	possibly damaging	Het
Stil	T	A	4: 115,024,225	Y655*	probably null	Het
Syt14	A	T	1: 192,898,859	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,962,265		probably null	Het
Tspyl5	A	T	15: 33,686,849	S317T	probably damaging	Het
Ttf1	C	T	2: 29,064,656	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,954,315	T620A	probably damaging	Het
Usp32	G	A	11: 85,055,772	Q269*	probably null	Het
Vsig10	T	A	5: 117,338,243	V254E	probably benign	Het
Wdr6	C	T	9: 108,572,988	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,331,432	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,703,796	D559G	probably benign	Het
Zfp934	T	C	13: 62,517,954	H291R	probably damaging	Het

Other mutations in Htra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Htra1	APN	7	130936378	missense	probably benign
IGL02500:Htra1	APN	7	130984974	missense	probably benign	0.01
IGL02708:Htra1	APN	7	130962035	missense	probably damaging	1.00
IGL03341:Htra1	APN	7	130981714	missense	probably benign	0.04
R0045:Htra1	UTSW	7	130961532	missense	probably damaging	1.00
R0045:Htra1	UTSW	7	130961532	missense	probably damaging	1.00
R0387:Htra1	UTSW	7	130979478	missense	probably damaging	1.00
R0681:Htra1	UTSW	7	130979297	intron	probably benign
R0963:Htra1	UTSW	7	130982279	missense	possibly damaging	0.75
R1244:Htra1	UTSW	7	130985069	missense	possibly damaging	0.87
R1892:Htra1	UTSW	7	130985069	missense	possibly damaging	0.87
R2279:Htra1	UTSW	7	130962022	missense	probably damaging	1.00
R4084:Htra1	UTSW	7	130936344	missense	probably benign	0.00
R4774:Htra1	UTSW	7	130985026	missense	probably benign	0.29
R4880:Htra1	UTSW	7	130962083	missense	probably damaging	1.00
R5183:Htra1	UTSW	7	130983716	missense	possibly damaging	0.58
R5819:Htra1	UTSW	7	130981739	missense	probably damaging	1.00
R5893:Htra1	UTSW	7	130961591	missense	probably damaging	1.00
R6709:Htra1	UTSW	7	130936218	intron	probably benign
R6845:Htra1	UTSW	7	130936291	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTTCTCCATGACTGCGAGG -3'
(R):5'- TACATTTGTTTTGCCCGCAAAC -3'

Sequencing Primer
(F):5'- TCTCCATGACTGCGAGGAATGG -3'
(R):5'- CTATCAAGAAGGATTCTGTCGGC -3'

Posted On

2016-04-15