Mutagenetix > Incidental Mutation

Incidental Mutation 'R7939:Htra2'

648934

Institutional Source

Beutler Lab

Gene Symbol

Htra2

Ensembl Gene

ENSMUSG00000068329

Gene Name

HtrA serine peptidase 2

Synonyms

Prss25, HtrA2, mnd2, OMI

MMRRC Submission

045985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7939 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83028247-83031552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83028545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 428 (Y428N)

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: Y428N

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

SMART Domains

Protein: ENSMUSP00000087073
Gene: ENSMUSG00000068329
AA Change: Y428N

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

probably damaging
Transcript: ENSMUST00000113962
AA Change: Y331N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109595
Gene: ENSMUSG00000068329
AA Change: Y331N

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: Y396N

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

SMART Domains

Protein: ENSMUSP00000109596
Gene: ENSMUSG00000068329
AA Change: Y396N

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

probably benign
Transcript: ENSMUST00000132099

Predicted Effect

probably damaging
Transcript: ENSMUST00000134606
AA Change: Y266N

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

SMART Domains

Protein: ENSMUSP00000115547
Gene: ENSMUSG00000068329
AA Change: Y266N

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

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

probably benign
Transcript: ENSMUST00000203915

Predicted Effect

probably benign
Transcript: ENSMUST00000204343

Predicted Effect

probably benign
Transcript: ENSMUST00000204719

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,275,433 (GRCm39)	I415T	probably damaging	Het
Ackr3	A	G	1: 90,142,287 (GRCm39)	S249G	probably benign	Het
Adgre1	G	T	17: 57,756,938 (GRCm39)	A732S	probably damaging	Het
Ahnak	T	A	19: 8,991,448 (GRCm39)	L4244*	probably null	Het
Aldh3a2	C	A	11: 61,115,424 (GRCm39)	C511F	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd11	A	T	8: 123,617,812 (GRCm39)	H2013Q	probably damaging	Het
Atp5mc3	A	G	2: 73,740,206 (GRCm39)		probably null	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Chtf18	A	T	17: 25,941,111 (GRCm39)	I629N	probably damaging	Het
Clstn3	T	C	6: 124,439,158 (GRCm39)	Y33C	probably damaging	Het
Cmc2	T	C	8: 117,616,513 (GRCm39)	R71G	unknown	Het
Cts7	A	T	13: 61,504,364 (GRCm39)	N66K	probably damaging	Het
Cysltr2	C	T	14: 73,267,399 (GRCm39)	V104I	possibly damaging	Het
Dnai4	G	A	4: 102,953,798 (GRCm39)	Q134*	probably null	Het
Dnm3	C	T	1: 162,123,165 (GRCm39)	V460I	possibly damaging	Het
Ecel1	C	T	1: 87,077,256 (GRCm39)	V651I	probably benign	Het
Ext2	G	A	2: 93,560,601 (GRCm39)	R522C	probably damaging	Het
Farp2	T	C	1: 93,487,983 (GRCm39)	L70P	probably damaging	Het
Fnip1	T	C	11: 54,393,093 (GRCm39)	Y510H	probably damaging	Het
Gm15446	T	C	5: 110,090,360 (GRCm39)	V204A	probably benign	Het
Gm29394	T	C	15: 57,912,046 (GRCm39)	K53E	unknown	Het
Gm39115	T	C	7: 141,689,768 (GRCm39)	T2A	unknown	Het
Helz2	A	G	2: 180,879,543 (GRCm39)	W692R	probably damaging	Het
Khdrbs2	T	A	1: 32,212,056 (GRCm39)	S20T	probably benign	Het
Kifap3	C	A	1: 163,643,427 (GRCm39)	Y217*	probably null	Het
Mast2	A	T	4: 116,287,668 (GRCm39)	S136T	probably benign	Het
Mesp1	C	T	7: 79,442,734 (GRCm39)	W181*	probably null	Het
Mtch1	A	C	17: 29,559,806 (GRCm39)	S158A	probably damaging	Het
Mtmr10	C	A	7: 63,963,899 (GRCm39)	S211R	probably benign	Het
Mtmr9	C	A	14: 63,771,973 (GRCm39)	Q204H	probably damaging	Het
Myo5a	A	G	9: 75,097,182 (GRCm39)	N43D		Het
Myom3	G	T	4: 135,534,589 (GRCm39)		probably null	Het
Neb	T	C	2: 52,076,073 (GRCm39)	D5903G	probably damaging	Het
Niban1	T	G	1: 151,581,775 (GRCm39)	L457R	probably damaging	Het
Noxred1	A	G	12: 87,268,105 (GRCm39)	V342A	probably benign	Het
Nsd2	T	A	5: 34,012,933 (GRCm39)	S421R	probably benign	Het
Or10a3	T	C	7: 108,480,481 (GRCm39)	I111V	probably benign	Het
Or5p55	T	A	7: 107,566,986 (GRCm39)	C127*	probably null	Het
Oxa1l	T	C	14: 54,604,876 (GRCm39)	C270R	probably benign	Het
Pcdha3	T	A	18: 37,080,933 (GRCm39)	N558K	probably damaging	Het
Pcdha7	T	C	18: 37,109,063 (GRCm39)	V696A	possibly damaging	Het
Pigl	T	C	11: 62,349,506 (GRCm39)	L74P	probably damaging	Het
Plch2	G	T	4: 155,087,235 (GRCm39)	R339S	possibly damaging	Het
Prdm11	G	T	2: 92,843,074 (GRCm39)	D128E	probably damaging	Het
Ptdss1	A	G	13: 67,143,411 (GRCm39)	T415A	probably benign	Het
Ptprj	A	T	2: 90,295,009 (GRCm39)	W400R	probably damaging	Het
Qdpr	T	C	5: 45,607,407 (GRCm39)	Y13C	probably damaging	Het
Retsat	G	A	6: 72,581,919 (GRCm39)	M355I	probably benign	Het
Slc24a1	T	G	9: 64,835,648 (GRCm39)	E826D	probably benign	Het
Taok3	T	C	5: 117,331,902 (GRCm39)	F40L	probably benign	Het
Tecta	T	C	9: 42,299,519 (GRCm39)	T190A	probably damaging	Het
Tmem220	C	A	11: 66,920,850 (GRCm39)	T85K	probably damaging	Het
Traip	T	C	9: 107,833,077 (GRCm39)	F38L	probably benign	Het
Tspan1	A	T	4: 116,024,209 (GRCm39)	I18N	probably damaging	Het
Ttc24	A	T	3: 87,981,945 (GRCm39)	D40E	possibly damaging	Het
Ttn	A	T	2: 76,542,737 (GRCm39)	Y33416*	probably null	Het
Ttn	A	T	2: 76,576,105 (GRCm39)	D24929E	probably damaging	Het
Vmn2r16	T	A	5: 109,487,705 (GRCm39)	S193T	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,651 (GRCm39)	W300R	probably damaging	Het
Vps13a	C	T	19: 16,718,155 (GRCm39)	V522M	possibly damaging	Het
Wdr17	C	A	8: 55,140,677 (GRCm39)	R232L	probably damaging	Het
Wtap	A	T	17: 13,200,683 (GRCm39)	Y33*	probably null	Het
Zc3h10	A	T	10: 128,380,376 (GRCm39)	V327E	probably damaging	Het
Zfp658	T	C	7: 43,224,301 (GRCm39)	S859P	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	probably null	Het
Zfp980	A	T	4: 145,428,582 (GRCm39)	H437L	probably damaging	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
IGL02510:Htra2	APN	6	83,028,592 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCACTCAGAACCTAGGCTAG -3'
(R):5'- ATGTTCAGCATGGTGTCCTC -3'

Sequencing Primer
(F):5'- CTAGGAAAGCAAGGAGGAGATC -3'
(R):5'- GGATGTATCCTTGAACTTCTC -3'

Posted On

2020-09-15