Mutagenetix > Incidental Mutation

Incidental Mutation 'R2030:Htra4'

221148

Institutional Source

Beutler Lab

Gene Symbol

Htra4

Ensembl Gene

ENSMUSG00000037406

Gene Name

HtrA serine peptidase 4

Synonyms

B430206E18Rik

MMRRC Submission

040037-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25514945-25528978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25523593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 324 (D324V)

Ref Sequence

ENSEMBL: ENSMUSP00000081044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084031]

AlphaFold

A2RT60

Predicted Effect

probably damaging
Transcript: ENSMUST00000084031
AA Change: D324V

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

SMART Domains

Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: D324V

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IB	37	112	5.44e-7	SMART
KAZAL	109	158	7.92e-4	SMART
Pfam:Trypsin	182	368	5.5e-15	PFAM
Pfam:Trypsin_2	208	346	2.1e-34	PFAM
PDZ	385	470	5.34e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211059

Meta Mutation Damage Score

0.9677

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

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 HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	C	T	13: 41,981,735 (GRCm39)	V13I	probably damaging	Het
Ak2	A	G	4: 128,902,013 (GRCm39)	K229E	probably benign	Het
Atp13a4	A	T	16: 29,241,502 (GRCm39)	V741D	probably damaging	Het
Bdp1	A	T	13: 100,197,697 (GRCm39)	M896K	probably benign	Het
Ccser1	C	T	6: 61,288,547 (GRCm39)	R237C	probably benign	Het
Cdk7	A	G	13: 100,859,182 (GRCm39)		probably benign	Het
CK137956	A	G	4: 127,845,180 (GRCm39)	S188P	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbndd2	A	G	2: 164,330,563 (GRCm39)	D72G	probably damaging	Het
Disp3	A	T	4: 148,344,423 (GRCm39)	I493N	probably damaging	Het
Dnaaf10	A	T	11: 17,179,832 (GRCm39)	T278S	probably benign	Het
Epx	T	C	11: 87,755,650 (GRCm39)	D678G	probably damaging	Het
Fbxw5	G	T	2: 25,394,810 (GRCm39)	V235L	probably damaging	Het
Fmo4	T	A	1: 162,621,741 (GRCm39)	D490V	probably damaging	Het
Fuca2	A	G	10: 13,382,518 (GRCm39)	Y268C	probably damaging	Het
Gm4787	C	T	12: 81,425,544 (GRCm39)	V205I	probably damaging	Het
Gpat3	G	A	5: 101,045,687 (GRCm39)	R437K	probably benign	Het
Herc2	A	G	7: 55,834,121 (GRCm39)	S3109G	probably damaging	Het
Hr	G	A	14: 70,808,888 (GRCm39)	R1117H	probably damaging	Het
Kcnd3	A	G	3: 105,366,853 (GRCm39)	Y241C	probably damaging	Het
Kcp	G	A	6: 29,489,071 (GRCm39)	L1072F	probably damaging	Het
Lrrc52	T	C	1: 167,294,028 (GRCm39)	N86D	probably benign	Het
Mindy4	A	G	6: 55,188,247 (GRCm39)	T26A	probably damaging	Het
Mre11a	A	T	9: 14,707,101 (GRCm39)	N117Y	probably damaging	Het
Mrgprb1	A	T	7: 48,097,076 (GRCm39)	S279T	possibly damaging	Het
Myh13	T	G	11: 67,241,064 (GRCm39)	S814A	probably benign	Het
Ncapd2	A	G	6: 125,153,678 (GRCm39)	V679A	possibly damaging	Het
Nipbl	A	T	15: 8,379,771 (GRCm39)	V1007D	probably damaging	Het
Nlrp12	T	A	7: 3,277,049 (GRCm39)	H960L	probably damaging	Het
Or3a1c	T	A	11: 74,046,769 (GRCm39)	M263K	possibly damaging	Het
Or4a72	C	T	2: 89,405,558 (GRCm39)	V171I	probably benign	Het
Or7e169	A	G	9: 19,757,709 (GRCm39)	S69P	probably benign	Het
Pklr	A	G	3: 89,050,545 (GRCm39)	Y402C	probably damaging	Het
Prdm2	T	C	4: 142,859,334 (GRCm39)	T1319A	possibly damaging	Het
Rif1	T	A	2: 51,982,358 (GRCm39)	V541E	probably damaging	Het
Ryk	T	A	9: 102,758,855 (GRCm39)	I248N	possibly damaging	Het
Shisa2	A	T	14: 59,867,134 (GRCm39)	I129F	probably damaging	Het
Snap25	T	G	2: 136,611,973 (GRCm39)		probably benign	Het
Snx31	G	A	15: 36,525,848 (GRCm39)	P284S	probably benign	Het
Spata31g1	C	T	4: 42,974,131 (GRCm39)	Q1155*	probably null	Het
Tas2r140	A	G	6: 40,469,154 (GRCm39)	K328R	possibly damaging	Het
Tas2r140	T	C	6: 133,032,213 (GRCm39)	T182A	probably benign	Het
Thumpd2	G	A	17: 81,372,387 (GRCm39)	R35C	probably damaging	Het
Tnxb	A	T	17: 34,937,443 (GRCm39)	N3811Y	probably damaging	Het
Tpte	A	C	8: 22,835,901 (GRCm39)	N428T	probably damaging	Het
Trpm6	A	G	19: 18,831,629 (GRCm39)	D1498G	probably benign	Het
Tsc2	C	T	17: 24,842,444 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,703,277 (GRCm39)		probably benign	Het
Wdr24	A	G	17: 26,045,017 (GRCm39)	I251V	probably benign	Het
Zc3h6	T	C	2: 128,848,006 (GRCm39)	Y278H	probably damaging	Het
Zfat	A	G	15: 67,990,783 (GRCm39)		probably null	Het
Zfp442	A	T	2: 150,250,042 (GRCm39)	V620E	possibly damaging	Het
Zfp788	A	G	7: 41,298,984 (GRCm39)	H540R	probably damaging	Het

Other mutations in Htra4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Htra4	APN	8	25,523,587 (GRCm39)	missense	probably damaging	0.98
IGL01738:Htra4	APN	8	25,515,727 (GRCm39)	missense	probably damaging	0.96
IGL02307:Htra4	APN	8	25,523,710 (GRCm39)	missense	probably damaging	1.00
IGL03382:Htra4	APN	8	25,519,714 (GRCm39)	missense	probably benign	0.17
R0057:Htra4	UTSW	8	25,528,824 (GRCm39)	missense	probably benign
R0906:Htra4	UTSW	8	25,527,160 (GRCm39)	missense	probably benign	0.00
R1075:Htra4	UTSW	8	25,523,612 (GRCm39)	missense	probably benign	0.00
R1173:Htra4	UTSW	8	25,520,635 (GRCm39)	missense	possibly damaging	0.92
R1180:Htra4	UTSW	8	25,523,735 (GRCm39)	missense	probably damaging	1.00
R1854:Htra4	UTSW	8	25,523,597 (GRCm39)	missense	probably damaging	1.00
R2225:Htra4	UTSW	8	25,515,736 (GRCm39)	missense	probably benign	0.42
R4457:Htra4	UTSW	8	25,528,674 (GRCm39)	missense	possibly damaging	0.90
R4626:Htra4	UTSW	8	25,527,130 (GRCm39)	missense	probably benign	0.29
R4746:Htra4	UTSW	8	25,523,713 (GRCm39)	missense	probably damaging	1.00
R4797:Htra4	UTSW	8	25,523,675 (GRCm39)	missense	probably damaging	1.00
R5369:Htra4	UTSW	8	25,523,585 (GRCm39)	missense	possibly damaging	0.95
R6846:Htra4	UTSW	8	25,520,561 (GRCm39)	missense	probably damaging	1.00
R6911:Htra4	UTSW	8	25,515,721 (GRCm39)	missense	probably damaging	0.96
R7067:Htra4	UTSW	8	25,523,717 (GRCm39)	missense	probably damaging	1.00
R7367:Htra4	UTSW	8	25,523,713 (GRCm39)	missense	probably damaging	1.00
R7446:Htra4	UTSW	8	25,527,181 (GRCm39)	missense	probably benign	0.09
R7603:Htra4	UTSW	8	25,515,716 (GRCm39)	missense	probably benign	0.03
R7725:Htra4	UTSW	8	25,527,169 (GRCm39)	missense	possibly damaging	0.94
R7729:Htra4	UTSW	8	25,527,093 (GRCm39)	missense	possibly damaging	0.63
R7893:Htra4	UTSW	8	25,523,695 (GRCm39)	missense	possibly damaging	0.81
R7988:Htra4	UTSW	8	25,520,526 (GRCm39)	critical splice donor site	probably null
R8140:Htra4	UTSW	8	25,520,574 (GRCm39)	missense	possibly damaging	0.75
R9169:Htra4	UTSW	8	25,520,133 (GRCm39)	missense	probably damaging	1.00
R9223:Htra4	UTSW	8	25,527,048 (GRCm39)	missense	possibly damaging	0.94
R9229:Htra4	UTSW	8	25,528,557 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGTATTGCAGCAGTGACCTC -3'
(R):5'- TGAGCTTCCAGTACTGCTGC -3'

Sequencing Primer
(F):5'- GCATGGTGCTGGTTATATCAAACAC -3'
(R):5'- TACTGCTGCTGGGCCGATC -3'

Posted On

2014-08-25