Mutagenetix > Incidental Mutation

Incidental Mutation 'R4774:Htra1'

367766

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

042412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4774 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130537933-130587388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130586756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 446 (N446K)

Ref Sequence

ENSEMBL: ENSMUSP00000006367 (fasta)

Gene Model

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

AlphaFold

Q9R118

Predicted Effect

probably benign
Transcript: ENSMUST00000006367
AA Change: N446K

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: N446K

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

0.0691

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (97/99)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,585,043 (GRCm39)	I844V	probably damaging	Het
Acnat1	T	A	4: 49,450,784 (GRCm39)	Y109F	probably benign	Het
Alox12b	T	C	11: 69,054,033 (GRCm39)	V205A	probably benign	Het
Arl6ip1	G	A	7: 117,721,208 (GRCm39)	R77C	probably damaging	Het
Atp8b1	A	G	18: 64,666,730 (GRCm39)	C1156R	possibly damaging	Het
Atp8b3	A	C	10: 80,372,156 (GRCm39)	N24K	probably damaging	Het
Bdh1	T	C	16: 31,273,954 (GRCm39)	V209A	possibly damaging	Het
Blm	A	T	7: 80,113,596 (GRCm39)	C1234S	probably damaging	Het
Caml	A	G	13: 55,779,740 (GRCm39)	D271G	possibly damaging	Het
Capn11	T	C	17: 45,944,006 (GRCm39)	D545G	probably benign	Het
Catspere1	T	C	1: 177,765,304 (GRCm39)		noncoding transcript	Het
Cep128	T	C	12: 91,200,969 (GRCm39)	E347G	probably damaging	Het
Cngb3	A	G	4: 19,415,713 (GRCm39)	T408A	possibly damaging	Het
Coa8	A	G	12: 111,679,823 (GRCm39)	T33A	possibly damaging	Het
Cog1	G	A	11: 113,548,253 (GRCm39)	R18Q	possibly damaging	Het
Cps1	T	C	1: 67,259,671 (GRCm39)	F1338L	probably damaging	Het
Csmd1	T	C	8: 16,059,369 (GRCm39)	H2122R	probably benign	Het
Ctu2	T	G	8: 123,207,851 (GRCm39)	S26A	probably benign	Het
Dbf4	G	A	5: 8,453,062 (GRCm39)		probably benign	Het
Ddx23	A	T	15: 98,545,116 (GRCm39)	D663E	probably benign	Het
Dpep2	T	C	8: 106,717,388 (GRCm39)	T123A	possibly damaging	Het
Eed	A	G	7: 89,613,976 (GRCm39)	I274T	probably damaging	Het
Eif3b	A	G	5: 140,405,255 (GRCm39)	D47G	probably benign	Het
Epas1	T	C	17: 87,113,186 (GRCm39)	V124A	probably damaging	Het
Fer1l6	T	C	15: 58,449,798 (GRCm39)	L668P	probably damaging	Het
Fnip2	C	A	3: 79,373,028 (GRCm39)	E1017*	probably null	Het
Gm43517	A	T	12: 49,436,690 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,491,345 (GRCm39)		probably null	Het
H2-Eb2	T	A	17: 34,553,375 (GRCm39)	V187E	probably damaging	Het
H2-Q1	T	C	17: 35,540,242 (GRCm39)		probably benign	Het
Hpgd	T	C	8: 56,751,454 (GRCm39)	V94A	probably damaging	Het
Igkv3-4	T	A	6: 70,649,269 (GRCm39)	S89R	probably damaging	Het
Immt	C	T	6: 71,829,720 (GRCm39)	T142I	probably damaging	Het
Itpkb	C	A	1: 180,245,759 (GRCm39)	P759T	probably damaging	Het
Jmjd1c	G	A	10: 67,060,571 (GRCm39)	V688I	possibly damaging	Het
Kbtbd13	G	T	9: 65,298,025 (GRCm39)	R304S	probably benign	Het
Lama5	A	C	2: 179,827,734 (GRCm39)	L2176R	probably damaging	Het
Lrp1b	G	C	2: 40,551,544 (GRCm39)	L418V	probably null	Het
Lrrc4b	C	A	7: 44,111,796 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,915,182 (GRCm39)	N3292S	probably damaging	Het
Mep1b	A	T	18: 21,219,241 (GRCm39)	I132F	probably benign	Het
Mettl2	A	G	11: 105,017,436 (GRCm39)		probably null	Het
Nherf2	T	C	17: 24,863,873 (GRCm39)	M1V	probably null	Het
Niban1	A	T	1: 151,591,445 (GRCm39)	D529V	probably damaging	Het
Nmd3	T	C	3: 69,652,569 (GRCm39)	L385S	probably benign	Het
Nol4	T	C	18: 23,045,683 (GRCm39)	E243G	probably damaging	Het
Odad1	T	A	7: 45,597,804 (GRCm39)	S571R	probably damaging	Het
Or4l1	T	A	14: 50,166,726 (GRCm39)	I92F	probably damaging	Het
Or51k1	A	G	7: 103,661,795 (GRCm39)	I38T	probably benign	Het
Or5j3	A	T	2: 86,129,042 (GRCm39)	N294I	possibly damaging	Het
Or8b52	A	G	9: 38,576,519 (GRCm39)	I207T	probably benign	Het
Pcnp	A	G	16: 55,837,522 (GRCm39)		probably benign	Het
Pla2g6	A	C	15: 79,171,818 (GRCm39)	C680G	probably damaging	Het
Plekha7	G	T	7: 115,744,178 (GRCm39)	D661E	probably damaging	Het
Prim1	A	T	10: 127,862,887 (GRCm39)		probably benign	Het
Psg29	T	A	7: 16,944,460 (GRCm39)	N323K	probably benign	Het
Ptrh2	G	A	11: 86,580,833 (GRCm39)	R150H	probably damaging	Het
Rasa1	A	G	13: 85,398,621 (GRCm39)		probably benign	Het
Rasa3	T	C	8: 13,627,501 (GRCm39)	D667G	probably benign	Het
Rnase2a	T	C	14: 51,493,201 (GRCm39)	N55D	probably damaging	Het
Rsf1	GCGGCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,123 (GRCm39)		probably benign	Het
Sbp	T	A	17: 24,164,218 (GRCm39)	N133K	probably damaging	Het
Scml4	A	G	10: 42,833,743 (GRCm39)		probably benign	Het
Sema5b	T	A	16: 35,483,552 (GRCm39)	N1063K	probably damaging	Het
Serpind1	C	T	16: 17,154,272 (GRCm39)	T33M	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc15a2	A	T	16: 36,602,057 (GRCm39)	L80*	probably null	Het
Sorcs3	A	G	19: 48,782,602 (GRCm39)	D1039G	probably benign	Het
Spon1	A	G	7: 113,639,102 (GRCm39)	E776G	probably damaging	Het
Tdp1	C	T	12: 99,868,623 (GRCm39)	A259V	possibly damaging	Het
Tex46	C	A	4: 136,337,991 (GRCm39)	P61Q	probably benign	Het
Tnr	T	A	1: 159,724,636 (GRCm39)	L1109Q	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpra1	G	A	6: 88,887,661 (GRCm39)		probably benign	Het
Trim43c	A	T	9: 88,729,705 (GRCm39)	H383L	possibly damaging	Het
Trip6	A	G	5: 137,308,433 (GRCm39)	C439R	probably damaging	Het
Tsen2	C	T	6: 115,552,894 (GRCm39)	S398L	possibly damaging	Het
Tubgcp2	T	C	7: 139,576,074 (GRCm39)	D863G	probably damaging	Het
Ube2d2a	A	G	18: 35,903,498 (GRCm39)		probably benign	Het
Umad1	T	A	6: 8,427,181 (GRCm39)	F145I	probably damaging	Het
Unc5c	A	T	3: 141,534,278 (GRCm39)	E933V	probably damaging	Het
Vmn1r208	A	G	13: 22,956,646 (GRCm39)	F284L	probably benign	Het
Vmn2r53	T	A	7: 12,334,692 (GRCm39)	R323*	probably null	Het
Zan	G	A	5: 137,387,281 (GRCm39)	T4924I	unknown	Het
Zfp597	G	T	16: 3,683,851 (GRCm39)	Q302K	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
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
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'- GAAATGCCATCTTCTCTGCTTG -3'
(R):5'- ACCAGCTCAGTTCTCATGCG -3'

Sequencing Primer
(F):5'- AAGTCATTTCCGTCCGAGG -3'
(R):5'- GCTCAGTTCTCATGCGCCATC -3'

Posted On

2015-12-29