Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02510:Htra2'

296512

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Htra2

Ensembl Gene

ENSMUSG00000068329

Gene Name

HtrA serine peptidase 2

Synonyms

Prss25, HtrA2, mnd2, OMI

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

83028247-83031552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83028592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 412 (V412A)

Ref Sequence

ENSEMBL: ENSMUSP00000087073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000707] [ENSMUST00000089645] [ENSMUST00000092618] [ENSMUST00000101257] [ENSMUST00000113962] [ENSMUST00000113963] [ENSMUST00000122955] [ENSMUST00000134606]

AlphaFold

Q9JIY5

Predicted Effect

probably benign
Transcript: ENSMUST00000000707

SMART Domains

Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
SR	45	146	2.1e-50	SMART
SR	170	283	1.09e-25	SMART
SR	308	408	3.72e-51	SMART
SR	418	526	8.5e-37	SMART
Pfam:Lysyl_oxidase	530	730	3.9e-103	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000089645
AA Change: V412A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087073
Gene: ENSMUSG00000068329
AA Change: V412A

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
transmembrane domain	106	125	N/A	INTRINSIC
low complexity region	128	143	N/A	INTRINSIC
Pfam:Trypsin	170	341	1.1e-14	PFAM
Pfam:Trypsin_2	182	320	1.2e-34	PFAM
PDZ	371	445	2.86e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000092618

SMART Domains

Protein: ENSMUSP00000090281
Gene: ENSMUSG00000068328

Domain	Start	End	E-Value	Type
low complexity region	10	40	N/A	INTRINSIC
transmembrane domain	52	74	N/A	INTRINSIC
PlsC	119	222	1.04e-1	SMART
low complexity region	307	322	N/A	INTRINSIC
CUE	325	366	1.3e-9	SMART
low complexity region	378	392	N/A	INTRINSIC
low complexity region	421	439	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101257

SMART Domains

Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
SR	45	146	2.1e-50	SMART
SR	170	283	1.09e-25	SMART
SR	308	396	5.46e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113962
AA Change: V315A

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109595
Gene: ENSMUSG00000068329
AA Change: V315A

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
transmembrane domain	106	125	N/A	INTRINSIC
low complexity region	128	143	N/A	INTRINSIC
Pfam:Trypsin_2	182	237	2.7e-12	PFAM
Pfam:Trypsin	212	277	4.5e-6	PFAM
PDZ	285	348	4.89e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113963
AA Change: V380A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109596
Gene: ENSMUSG00000068329
AA Change: V380A

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
transmembrane domain	106	125	N/A	INTRINSIC
low complexity region	128	143	N/A	INTRINSIC
Pfam:Trypsin	170	342	6.8e-15	PFAM
Pfam:Trypsin_2	182	320	7.1e-24	PFAM
PDZ	350	413	4.89e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122955

SMART Domains

Protein: ENSMUSP00000138153
Gene: ENSMUSG00000068329

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
transmembrane domain	106	125	N/A	INTRINSIC
low complexity region	128	143	N/A	INTRINSIC
Pfam:Trypsin	170	321	2.1e-10	PFAM
Pfam:Trypsin_2	182	317	9.5e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134606
AA Change: V250A

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115547
Gene: ENSMUSG00000068329
AA Change: V250A

Domain	Start	End	E-Value	Type
Pfam:Trypsin	7	180	2.7e-15	PFAM
Pfam:Trypsin_2	20	158	3.1e-24	PFAM
PDZ	209	283	2.86e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203339

Predicted Effect

probably benign
Transcript: ENSMUST00000203915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204209

Predicted Effect

probably benign
Transcript: ENSMUST00000204343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155502

Predicted Effect

probably benign
Transcript: ENSMUST00000132099

Predicted Effect

probably benign
Transcript: ENSMUST00000150217

SMART Domains

Protein: ENSMUSP00000118234
Gene: ENSMUSG00000068329

Domain	Start	End	E-Value	Type
low complexity region	4	11	N/A	INTRINSIC
Pfam:Trypsin	41	215	1.6e-11	PFAM
Pfam:Trypsin_2	53	190	1.8e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204385

Predicted Effect

probably benign
Transcript: ENSMUST00000204719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204895

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutations of this gene cause progressive parkinsonian symptoms, loss of striatal neurons, spleen and thymus atrophy, failure to thrive, and death before 40 days of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,078,959 (GRCm39)	S193N	probably benign	Het
Arrdc1	C	A	2: 24,825,112 (GRCm39)	V16F	probably damaging	Het
Bhmt1b	A	G	18: 87,775,653 (GRCm39)	Q392R	probably benign	Het
Bsx	A	T	9: 40,785,517 (GRCm39)	Q15L	possibly damaging	Het
Casp8ap2	A	G	4: 32,639,704 (GRCm39)	T253A	probably benign	Het
Cdkl3	T	C	11: 51,902,097 (GRCm39)	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,632,639 (GRCm39)	N237K	probably benign	Het
Cldn14	T	A	16: 93,716,844 (GRCm39)	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Col7a1	C	A	9: 108,802,299 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,473,532 (GRCm39)	V64M	probably damaging	Het
Disp3	G	A	4: 148,337,158 (GRCm39)	H886Y	probably benign	Het
Dst	G	A	1: 34,268,332 (GRCm39)		probably null	Het
Fnbp4	T	C	2: 90,581,819 (GRCm39)	V215A	probably benign	Het
Fzd9	A	G	5: 135,278,469 (GRCm39)	L472P	probably damaging	Het
Hpd	C	T	5: 123,319,973 (GRCm39)	R15Q	possibly damaging	Het
Ift80	A	G	3: 68,805,876 (GRCm39)	F722S	probably benign	Het
Kcnq2	T	C	2: 180,723,154 (GRCm39)	T741A	probably benign	Het
Kl	A	C	5: 150,912,466 (GRCm39)	E738D	probably damaging	Het
Klra4	T	A	6: 130,036,506 (GRCm39)	I178L	probably damaging	Het
Klra9	T	C	6: 130,168,185 (GRCm39)	E27G	probably benign	Het
Kntc1	T	C	5: 123,957,125 (GRCm39)	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,147,041 (GRCm39)	M417K	probably benign	Het
Med31	C	T	11: 72,102,882 (GRCm39)	M75I	probably benign	Het
Mpeg1	A	T	19: 12,438,788 (GRCm39)	D82V	probably damaging	Het
Msto1	A	G	3: 88,817,652 (GRCm39)	Y439H	probably damaging	Het
Or1e17	G	A	11: 73,831,831 (GRCm39)	G253E	probably damaging	Het
Or1j15	T	C	2: 36,458,693 (GRCm39)	S28P	possibly damaging	Het
Or2av9	T	C	11: 58,381,365 (GRCm39)	Y72C	probably damaging	Het
Or5p64	T	A	7: 107,855,348 (GRCm39)		probably benign	Het
Prtg	G	A	9: 72,798,151 (GRCm39)	V706M	probably damaging	Het
Sfxn2	G	T	19: 46,576,711 (GRCm39)	A186S	probably benign	Het
Slc12a5	A	T	2: 164,824,728 (GRCm39)		probably benign	Het
Slc7a3	T	C	X: 100,126,439 (GRCm39)	E222G	probably benign	Het
Stox1	A	T	10: 62,499,826 (GRCm39)	H911Q	probably benign	Het
Sult3a2	A	T	10: 33,642,435 (GRCm39)	N289K	probably benign	Het
Supt20	A	G	3: 54,622,945 (GRCm39)		probably benign	Het
Tchh	A	G	3: 93,351,385 (GRCm39)	E275G	unknown	Het
Tectb	A	T	19: 55,179,943 (GRCm39)	N263I	probably damaging	Het
Tsga10	C	T	1: 37,800,066 (GRCm39)	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,615,219 (GRCm39)	Y390H	probably damaging	Het
Utf1	C	A	7: 139,523,929 (GRCm39)	S48*	probably null	Het
Zfp358	G	A	8: 3,546,786 (GRCm39)	G456D	probably benign	Het
Zup1	A	G	10: 33,806,150 (GRCm39)		probably null	Het

Other mutations in Htra2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Htra2	APN	6	83,031,304 (GRCm39)	missense	probably damaging	1.00
IGL02392:Htra2	APN	6	83,031,280 (GRCm39)	missense	possibly damaging	0.78
IGL03324:Htra2	APN	6	83,030,737 (GRCm39)	missense	probably damaging	1.00
R1813:Htra2	UTSW	6	83,028,583 (GRCm39)	missense	probably damaging	0.99
R4791:Htra2	UTSW	6	83,028,798 (GRCm39)	missense	probably damaging	1.00
R5185:Htra2	UTSW	6	83,031,223 (GRCm39)	missense	probably benign	0.14
R5454:Htra2	UTSW	6	83,030,995 (GRCm39)	missense	probably damaging	0.96
R6364:Htra2	UTSW	6	83,030,027 (GRCm39)	missense	probably damaging	1.00
R6853:Htra2	UTSW	6	83,030,812 (GRCm39)	unclassified	probably benign
R7259:Htra2	UTSW	6	83,028,520 (GRCm39)	missense	possibly damaging	0.81
R7939:Htra2	UTSW	6	83,028,545 (GRCm39)	missense	probably damaging	1.00
Z1176:Htra2	UTSW	6	83,031,364 (GRCm39)	missense	probably benign	0.08
Z1177:Htra2	UTSW	6	83,030,737 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16