Mutagenetix > Incidental Mutation

Incidental Mutation 'R0097:Prss38'

41164

Institutional Source

Beutler Lab

Gene Symbol

Prss38

Ensembl Gene

ENSMUSG00000049291

Gene Name

serine protease 38

Synonyms

Gm249, LOC216797

MMRRC Submission

038383-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59263495-59266483 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59266434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 8 (L8S)

Ref Sequence

ENSEMBL: ENSMUSP00000052010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061481]

AlphaFold

Q3UKY7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061481
AA Change: L8S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052010
Gene: ENSMUSG00000049291
AA Change: L8S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Tryp_SPc	55	284	7.08e-75	SMART
low complexity region	288	305	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133698

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,206,129 (GRCm39)	I353K	probably benign	Het
Albfm1	T	A	5: 90,732,795 (GRCm39)	S535R	probably benign	Het
Arfgap2	T	A	2: 91,105,160 (GRCm39)	V422E	probably benign	Het
Baz1b	T	C	5: 135,227,113 (GRCm39)	S105P	probably benign	Het
Bbs10	T	C	10: 111,134,705 (GRCm39)	V41A	probably damaging	Het
Cacna1s	T	A	1: 136,028,360 (GRCm39)	M899K	possibly damaging	Het
Ccnd2	G	A	6: 127,123,015 (GRCm39)	A180V	probably benign	Het
Ciao3	T	C	17: 25,995,976 (GRCm39)	S67P	possibly damaging	Het
Cldnd1	A	G	16: 58,550,078 (GRCm39)	N87S	possibly damaging	Het
Cyp2c54	T	A	19: 40,036,102 (GRCm39)		probably benign	Het
Cyp2c54	G	T	19: 40,036,103 (GRCm39)		probably benign	Het
Dab2ip	G	A	2: 35,608,928 (GRCm39)	V629M	possibly damaging	Het
Ddx41	A	T	13: 55,683,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,577,109 (GRCm39)	R188S	probably benign	Het
Eml3	T	A	19: 8,914,015 (GRCm39)	F465L	probably benign	Het
Gm9938	T	A	19: 23,701,828 (GRCm39)		probably benign	Het
Gpr87	G	A	3: 59,086,506 (GRCm39)	T333I	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Llgl2	T	A	11: 115,735,323 (GRCm39)	Y59*	probably null	Het
Lzic	A	G	4: 149,572,533 (GRCm39)	E41G	probably damaging	Het
Mprip	T	A	11: 59,649,317 (GRCm39)	L1007Q	possibly damaging	Het
Mtfr2	T	A	10: 20,224,122 (GRCm39)	S19T	probably damaging	Het
Mycbp2	A	T	14: 103,393,198 (GRCm39)	M3121K	probably damaging	Het
Myocd	T	A	11: 65,069,840 (GRCm39)	M667L	possibly damaging	Het
Ncam2	A	G	16: 81,314,425 (GRCm39)	D467G	probably damaging	Het
Neb	T	C	2: 52,094,906 (GRCm39)	N4882S	probably damaging	Het
Neu2	A	G	1: 87,525,188 (GRCm39)	D391G	probably benign	Het
Nol4	C	A	18: 22,852,198 (GRCm39)	A456S	probably benign	Het
Or5m13	T	C	2: 85,749,184 (GRCm39)	V305A	probably benign	Het
Padi6	C	T	4: 140,458,268 (GRCm39)	V513M	probably benign	Het
Pign	G	A	1: 105,515,701 (GRCm39)		probably benign	Het
Plpp2	T	C	10: 79,366,371 (GRCm39)	E91G	possibly damaging	Het
Pnp	T	A	14: 51,188,873 (GRCm39)	V222D	probably damaging	Het
Pnp2	C	T	14: 51,200,958 (GRCm39)	R148C	probably benign	Het
Pramel30	T	C	4: 144,057,857 (GRCm39)	S155P	probably benign	Het
Rab5b	A	T	10: 128,518,809 (GRCm39)	F108I	probably damaging	Het
Rbbp5	T	A	1: 132,418,227 (GRCm39)	H15Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Rsl1	A	C	13: 67,329,966 (GRCm39)	Q138P	probably damaging	Het
Ryr3	T	C	2: 112,630,400 (GRCm39)	D2157G	probably damaging	Het
Secisbp2l	T	C	2: 125,613,376 (GRCm39)	D206G	probably damaging	Het
Sh3pxd2b	T	A	11: 32,353,978 (GRCm39)	I182N	probably damaging	Het
Slc3a1	A	T	17: 85,340,288 (GRCm39)	I237F	probably damaging	Het
Svs3b	T	C	2: 164,098,159 (GRCm39)	E54G	probably damaging	Het
T	A	T	17: 8,658,733 (GRCm39)		probably benign	Het
Tenm4	A	T	7: 96,542,133 (GRCm39)	D1882V	probably damaging	Het
Tgfbr1	T	A	4: 47,403,451 (GRCm39)	L283*	probably null	Het
Tppp3	C	T	8: 106,194,554 (GRCm39)	A149T	probably benign	Het
Ubp1	T	C	9: 113,802,575 (GRCm39)		probably benign	Het
Ushbp1	C	T	8: 71,843,357 (GRCm39)	C314Y	probably damaging	Het
Vav2	A	T	2: 27,189,374 (GRCm39)		probably benign	Het
Vmn1r228	T	C	17: 20,996,625 (GRCm39)	M298V	probably benign	Het
Zmpste24	A	T	4: 120,952,740 (GRCm39)		probably benign	Het

Other mutations in Prss38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03075:Prss38	APN	11	59,263,881 (GRCm39)	missense	probably damaging	1.00
LCD18:Prss38	UTSW	11	59,266,467 (GRCm39)	utr 5 prime	probably benign
R0001:Prss38	UTSW	11	59,264,006 (GRCm39)	splice site	probably benign
R0097:Prss38	UTSW	11	59,266,434 (GRCm39)	missense	possibly damaging	0.86
R0540:Prss38	UTSW	11	59,266,369 (GRCm39)	missense	possibly damaging	0.50
R0607:Prss38	UTSW	11	59,266,369 (GRCm39)	missense	possibly damaging	0.50
R1966:Prss38	UTSW	11	59,264,310 (GRCm39)	missense	probably damaging	1.00
R4394:Prss38	UTSW	11	59,263,854 (GRCm39)	missense	probably damaging	1.00
R4397:Prss38	UTSW	11	59,263,854 (GRCm39)	missense	probably damaging	1.00
R4529:Prss38	UTSW	11	59,264,325 (GRCm39)	missense	probably damaging	1.00
R4738:Prss38	UTSW	11	59,263,771 (GRCm39)	missense	probably benign	0.00
R5061:Prss38	UTSW	11	59,265,196 (GRCm39)	missense	probably damaging	0.98
R5219:Prss38	UTSW	11	59,266,309 (GRCm39)	splice site	probably benign
R5306:Prss38	UTSW	11	59,263,821 (GRCm39)	missense	probably benign	0.00
R6894:Prss38	UTSW	11	59,263,850 (GRCm39)	missense	probably benign	0.19
R7286:Prss38	UTSW	11	59,266,384 (GRCm39)	missense	probably benign	0.00
R7860:Prss38	UTSW	11	59,265,996 (GRCm39)	missense	probably damaging	1.00
T0970:Prss38	UTSW	11	59,263,974 (GRCm39)	missense	possibly damaging	0.81
Z1176:Prss38	UTSW	11	59,265,160 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCCGATCACGAGCAAACTCTCC -3'
(R):5'- TCCACATCCGCTAGTTCAAAGTCAC -3'

Sequencing Primer
(F):5'- CCCAAGAGCTTGCCTTGC -3'
(R):5'- AGTTCAAAGTCACCTGCTGG -3'

Posted On

2013-05-23