Mutagenetix > Incidental Mutation

Incidental Mutation 'R6325:Prss1l'

510234

Institutional Source

Beutler Lab

Gene Symbol

Prss1l

Ensembl Gene

ENSMUSG00000058119

Gene Name

serine protease 1 (trypsin 1) like

Synonyms

Gm5771

MMRRC Submission

044479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41369290-41374164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41373590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 151 (V151A)

Ref Sequence

ENSEMBL: ENSMUSP00000039684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049079]

AlphaFold

Q792Y9

Predicted Effect

probably benign
Transcript: ENSMUST00000049079
AA Change: V151A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000039684
Gene: ENSMUSG00000058119
AA Change: V151A

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Tryp_SPc	22	238	9.72e-105	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,964,944 (GRCm39)	I596T	probably benign	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Birc7	G	A	2: 180,571,243 (GRCm39)	D102N	probably benign	Het
Cct8	A	C	16: 87,292,615 (GRCm39)		probably null	Het
Cntn5	T	C	9: 10,144,328 (GRCm39)		probably null	Het
Cyp11a1	A	G	9: 57,932,851 (GRCm39)	N396D	probably benign	Het
Dip2b	T	C	15: 100,052,163 (GRCm39)	S255P	probably benign	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Fancm	T	A	12: 65,171,826 (GRCm39)	M1822K	probably damaging	Het
Far2	T	C	6: 148,058,995 (GRCm39)	V227A	probably benign	Het
Fbrsl1	A	G	5: 110,525,273 (GRCm39)	F100L	probably damaging	Het
Gpd2	T	C	2: 57,194,408 (GRCm39)	S104P	probably damaging	Het
Grp	T	C	18: 66,006,824 (GRCm39)		probably null	Het
Hamp	A	C	7: 30,643,328 (GRCm39)	H27Q	probably benign	Het
Hecw1	T	A	13: 14,491,031 (GRCm39)	S241C	probably damaging	Het
Itsn2	T	A	12: 4,756,351 (GRCm39)	I1349N	probably damaging	Het
Nr4a2	A	G	2: 57,002,430 (GRCm39)	Y8H	probably damaging	Het
Or2ak7	T	A	11: 58,575,354 (GRCm39)	Y218*	probably null	Het
Or2w1	A	T	13: 21,317,245 (GRCm39)	Q100L	probably damaging	Het
Pla2g2e	T	C	4: 138,607,736 (GRCm39)	Y39H	probably damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Ptpn20	A	T	14: 33,352,962 (GRCm39)	T234S	possibly damaging	Het
Smarca2	T	A	19: 26,655,763 (GRCm39)	V810E	probably damaging	Het
Taar2	A	T	10: 23,816,615 (GRCm39)	M52L	probably benign	Het
Tex47	A	T	5: 7,354,935 (GRCm39)	R39*	probably null	Het
Tnxb	T	A	17: 34,911,398 (GRCm39)	V1567D	probably damaging	Het
Ttll6	T	C	11: 96,026,331 (GRCm39)	Y79H	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp462	C	T	4: 55,080,680 (GRCm39)	T1344I	probably benign	Het
Zfp804a	A	T	2: 82,087,382 (GRCm39)	I404L	possibly damaging	Het

Other mutations in Prss1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Prss1l	APN	6	41,371,707 (GRCm39)	missense	probably damaging	1.00
IGL00586:Prss1l	APN	6	41,373,049 (GRCm39)	missense	probably damaging	1.00
IGL01103:Prss1l	APN	6	41,374,091 (GRCm39)	missense	probably damaging	1.00
IGL01368:Prss1l	APN	6	41,373,620 (GRCm39)	missense	possibly damaging	0.94
IGL01458:Prss1l	APN	6	41,373,621 (GRCm39)	missense	probably benign	0.01
IGL03114:Prss1l	APN	6	41,374,012 (GRCm39)	missense	probably damaging	1.00
R0167:Prss1l	UTSW	6	41,373,195 (GRCm39)	splice site	probably benign
R1548:Prss1l	UTSW	6	41,372,945 (GRCm39)	missense	probably damaging	1.00
R4584:Prss1l	UTSW	6	41,373,701 (GRCm39)	missense	probably benign	0.35
R5622:Prss1l	UTSW	6	41,373,084 (GRCm39)	missense	probably damaging	1.00
R5664:Prss1l	UTSW	6	41,371,605 (GRCm39)	missense	probably benign	0.04
R6222:Prss1l	UTSW	6	41,374,100 (GRCm39)	missense	probably damaging	0.98
R7816:Prss1l	UTSW	6	41,371,707 (GRCm39)	missense	probably damaging	1.00
R7986:Prss1l	UTSW	6	41,373,058 (GRCm39)	missense	probably damaging	1.00
R8016:Prss1l	UTSW	6	41,374,100 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGAACTGATCCCCAGAATGC -3'
(R):5'- TTGAAGTACACTCCCAGAACAG -3'

Sequencing Primer
(F):5'- AATGCTGGCCAGGCACATG -3'
(R):5'- GTACACTCCCAGAACAGAGGTC -3'

Posted On

2018-04-02