Mutagenetix > Incidental Mutation

Incidental Mutation 'R0792:Prss1'

82452

Institutional Source

Beutler Lab

Gene Symbol

Prss1

Ensembl Gene

ENSMUSG00000062751

Gene Name

protease, serine 1 (trypsin 1)

Synonyms

Try-1, PRSS1, Trygn16, Try1

MMRRC Submission

038972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41458932-41463786 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 41458944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000031910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031910]

AlphaFold

Q9Z1R9

Predicted Effect

probably null
Transcript: ENSMUST00000031910
AA Change: M1T

SMART Domains

Protein: ENSMUSP00000031910
Gene: ENSMUSG00000062751
AA Change: M1T

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Tryp_SPc	23	239	9.87e-106	SMART

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,933,868		probably null	Het
Acsl5	T	C	19: 55,280,492	V195A	probably benign	Het
Adgrb1	A	G	15: 74,580,617	M211V	probably damaging	Het
Ahnak	G	T	19: 9,016,734	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,194,112	Y55H	probably damaging	Het
Ap3d1	A	T	10: 80,708,479	H1161Q	probably benign	Het
Atp2b2	C	T	6: 113,773,388	R625H	probably damaging	Het
Bdnf	G	A	2: 109,724,118	C239Y	probably damaging	Het
Bpifa5	G	T	2: 154,165,619		probably null	Het
C9	T	A	15: 6,486,762	F349I	probably damaging	Het
Ccdc180	T	C	4: 45,927,975	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276	V1846A	probably benign	Het
Cep68	A	T	11: 20,240,652	L120H	possibly damaging	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Cpne1	G	T	2: 156,077,419	Q343K	probably benign	Het
D3Ertd254e	A	G	3: 36,164,562	M244V	probably benign	Het
Dlc1	A	T	8: 36,938,548	I29K	probably benign	Het
Dnah9	T	C	11: 65,896,001	D3602G	possibly damaging	Het
Dock1	A	G	7: 134,874,150	S885G	probably benign	Het
Evpl	T	A	11: 116,227,723	Q686L	probably damaging	Het
Fmo6	C	T	1: 162,920,563	A311T	probably damaging	Het
Gli1	A	T	10: 127,332,577	M469K	probably damaging	Het
Grin2c	G	A	11: 115,250,646	P882L	probably damaging	Het
H2-Ob	C	T	17: 34,242,614	T109I	probably damaging	Het
Jpt2	C	A	17: 24,948,673	A101S	probably benign	Het
Krt2	A	G	15: 101,816,497	V226A	probably damaging	Het
Lamc1	C	A	1: 153,234,580	Q1116H	possibly damaging	Het
Lamc1	T	G	1: 153,234,595	Q1111H	probably damaging	Het
Lamc1	T	C	1: 153,234,612	S1106G	probably benign	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,575,286	D1399E	probably benign	Het
Ltbp4	G	T	7: 27,325,060	P715Q	probably damaging	Het
Mtor	T	C	4: 148,462,910	V450A	probably benign	Het
Muc6	G	A	7: 141,639,559		probably benign	Het
Myom1	A	T	17: 71,121,136	I1450F	probably damaging	Het
Naip6	A	G	13: 100,283,766	I1332T	possibly damaging	Het
Ncstn	A	G	1: 172,071,505	V353A	possibly damaging	Het
Nt5c3	T	C	6: 56,886,749	T149A	probably benign	Het
Olfr203	A	T	16: 59,303,989	I280F	probably damaging	Het
Olfr510	A	G	7: 108,668,157	H247R	probably damaging	Het
Paip1	T	C	13: 119,430,318	S54P	possibly damaging	Het
Prdm14	G	T	1: 13,125,744	A31E	probably benign	Het
Prr14l	A	G	5: 32,828,423	S1243P	probably damaging	Het
Raver2	T	A	4: 101,102,950	V209D	probably damaging	Het
Scube1	T	A	15: 83,628,076		probably null	Het
Serpina3c	T	A	12: 104,151,546	I178F	probably damaging	Het
Slc16a13	A	T	11: 70,220,631	V16E	probably damaging	Het
Slc30a6	T	C	17: 74,415,645	S236P	possibly damaging	Het
Sobp	A	C	10: 43,022,693	S299A	probably damaging	Het
Sorcs3	C	A	19: 48,706,009	T574K	possibly damaging	Het
Trak2	A	T	1: 58,903,661	M862K	probably benign	Het
Ubox5	A	T	2: 130,600,710	V19E	probably damaging	Het
Vmn1r173	A	G	7: 23,702,735	T132A	probably benign	Het
Zfp820	T	C	17: 21,819,528	D273G	probably benign	Het

Other mutations in Prss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Prss1	APN	6	41462711	missense	possibly damaging	0.87
IGL00661:Prss1	APN	6	41462619	missense	possibly damaging	0.90
IGL01780:Prss1	APN	6	41463205	missense	probably damaging	0.96
IGL02350:Prss1	APN	6	41463205	missense	probably damaging	0.96
IGL02357:Prss1	APN	6	41463205	missense	probably damaging	0.96
R0090:Prss1	UTSW	6	41461232	missense	probably benign	0.00
R0137:Prss1	UTSW	6	41462561	missense	probably damaging	1.00
R0143:Prss1	UTSW	6	41463588	missense	probably damaging	1.00
R0422:Prss1	UTSW	6	41463312	missense	probably damaging	1.00
R0939:Prss1	UTSW	6	41463588	missense	probably damaging	1.00
R2762:Prss1	UTSW	6	41463281	missense	possibly damaging	0.93
R2896:Prss1	UTSW	6	41463705	nonsense	probably null
R2915:Prss1	UTSW	6	41462611	missense	probably benign	0.11
R2959:Prss1	UTSW	6	41463238	missense	probably damaging	0.99
R5123:Prss1	UTSW	6	41463197	missense	possibly damaging	0.84
R5587:Prss1	UTSW	6	41463265	missense	possibly damaging	0.57
R5610:Prss1	UTSW	6	41461213	missense	probably benign	0.07
R6521:Prss1	UTSW	6	41463681	missense	probably damaging	1.00
R6788:Prss1	UTSW	6	41463720	missense	possibly damaging	0.46
R7199:Prss1	UTSW	6	41462756	missense	probably damaging	1.00
R7552:Prss1	UTSW	6	41462573	missense	probably benign	0.05
R8812:Prss1	UTSW	6	41462586	missense	probably benign	0.01
R9136:Prss1	UTSW	6	41461346	splice site	probably benign
R9255:Prss1	UTSW	6	41461249	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTCCTTTCAAGAATCACCTGC -3'
(R):5'- TCCCTGGGTATCACAGCAAGACAC -3'

Sequencing Primer
(F):5'- AAGAATCACCTGCTTTCCTTGTC -3'
(R):5'- TCATCTCCAGGAGGTCTGC -3'

Posted On

2013-11-08