Mutagenetix > Incidental Mutation

Incidental Mutation 'R6521:Prss1'

521265

Institutional Source

Beutler Lab

Gene Symbol

Prss1

Ensembl Gene

ENSMUSG00000062751

Gene Name

serine protease 1 (trypsin 1)

Synonyms

Trygn16, Try-1, PRSS1, Try1

MMRRC Submission

044647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6521 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41435866-41440720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41440615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 230 (T230I)

Ref Sequence

ENSEMBL: ENSMUSP00000031910 (fasta)

Gene Model

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

AlphaFold

Q9Z1R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031910
AA Change: T230I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031910
Gene: ENSMUSG00000062751
AA Change: T230I

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: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,769,968 (GRCm39)	S356T	probably benign	Het
Acsbg2	T	C	17: 57,168,565 (GRCm39)	M185V	probably benign	Het
Adgrv1	A	T	13: 81,581,771 (GRCm39)	F4758I	probably damaging	Het
Ank3	A	G	10: 69,828,596 (GRCm39)		probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ano4	A	G	10: 88,819,640 (GRCm39)	V537A	probably damaging	Het
Catsper2	A	G	2: 121,237,288 (GRCm39)	L204P	probably damaging	Het
Cdh20	A	C	1: 104,869,859 (GRCm39)	D193A	probably damaging	Het
Ceacam5	T	C	7: 17,484,756 (GRCm39)		probably null	Het
Celf4	T	A	18: 25,612,531 (GRCm39)		probably null	Het
Cfap91	A	G	16: 38,127,121 (GRCm39)	V545A	probably benign	Het
Crebbp	A	T	16: 3,936,992 (GRCm39)	F754I	probably damaging	Het
Cyfip2	A	T	11: 46,145,415 (GRCm39)	I635N	probably damaging	Het
Erbb4	T	A	1: 68,081,689 (GRCm39)	D1131V	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Hoxc8	G	A	15: 102,901,135 (GRCm39)	V193M	probably benign	Het
Klhdc3	A	G	17: 46,988,687 (GRCm39)	V124A	probably benign	Het
Klhl18	A	G	9: 110,257,703 (GRCm39)	I509T	possibly damaging	Het
Mdfic	T	A	6: 15,729,027 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,467,479 (GRCm39)	D64E	probably damaging	Het
Mmd2	A	G	5: 142,560,585 (GRCm39)	I112T	probably damaging	Het
Mpl	C	T	4: 118,312,314 (GRCm39)		probably null	Het
Mtmr4	A	G	11: 87,504,353 (GRCm39)	T1044A	possibly damaging	Het
Muc5b	C	A	7: 141,412,908 (GRCm39)	Y1951*	probably null	Het
Myo15a	C	T	11: 60,393,195 (GRCm39)	H2240Y	probably damaging	Het
Nckap5	A	T	1: 126,309,909 (GRCm39)	I74K	probably damaging	Het
Nfxl1	A	T	5: 72,697,651 (GRCm39)		probably null	Het
Or11j4	T	C	14: 50,631,005 (GRCm39)	V264A	possibly damaging	Het
Or2ah1	A	T	2: 85,653,794 (GRCm39)	I160F	probably benign	Het
Or4c11c	A	G	2: 88,661,700 (GRCm39)	I80V	probably benign	Het
Or8d2	C	T	9: 38,759,893 (GRCm39)	T161I	probably benign	Het
Piezo2	T	C	18: 63,154,399 (GRCm39)	Y2460C	probably damaging	Het
Pigx	A	G	16: 31,906,129 (GRCm39)	L64P	probably damaging	Het
Ptma	A	G	1: 86,455,569 (GRCm39)		probably null	Het
Rab39	T	C	9: 53,617,331 (GRCm39)	T29A	probably benign	Het
Rem2	C	T	14: 54,715,144 (GRCm39)	A107V	possibly damaging	Het
Senp1	A	G	15: 97,946,152 (GRCm39)	V531A	probably damaging	Het
Serhl	A	G	15: 82,985,843 (GRCm39)		probably null	Het
Sirpa	T	G	2: 129,472,075 (GRCm39)	Y164D	probably damaging	Het
Slc12a3	T	C	8: 95,069,741 (GRCm39)	I550T	possibly damaging	Het
Slc22a14	T	C	9: 119,049,835 (GRCm39)		probably null	Het
Slfn5	A	G	11: 82,851,241 (GRCm39)	N513D	probably damaging	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Swap70	T	C	7: 109,855,027 (GRCm39)	L109P	probably benign	Het
Tas2r119	G	A	15: 32,178,319 (GRCm39)	C295Y	probably damaging	Het
Tcaf3	T	A	6: 42,570,172 (GRCm39)	I527L	probably damaging	Het
Traj31	A	G	14: 54,425,387 (GRCm39)		probably benign	Het
Unc5a	T	A	13: 55,152,748 (GRCm39)	D887E	probably benign	Het
Zfp407	T	A	18: 84,450,536 (GRCm39)	H1600L	probably damaging	Het

Other mutations in Prss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Prss1	APN	6	41,439,645 (GRCm39)	missense	possibly damaging	0.87
IGL00661:Prss1	APN	6	41,439,553 (GRCm39)	missense	possibly damaging	0.90
IGL01780:Prss1	APN	6	41,440,139 (GRCm39)	missense	probably damaging	0.96
IGL02350:Prss1	APN	6	41,440,139 (GRCm39)	missense	probably damaging	0.96
IGL02357:Prss1	APN	6	41,440,139 (GRCm39)	missense	probably damaging	0.96
R0090:Prss1	UTSW	6	41,438,166 (GRCm39)	missense	probably benign	0.00
R0137:Prss1	UTSW	6	41,439,495 (GRCm39)	missense	probably damaging	1.00
R0143:Prss1	UTSW	6	41,440,522 (GRCm39)	missense	probably damaging	1.00
R0422:Prss1	UTSW	6	41,440,246 (GRCm39)	missense	probably damaging	1.00
R0792:Prss1	UTSW	6	41,435,878 (GRCm39)	start codon destroyed	probably null
R0939:Prss1	UTSW	6	41,440,522 (GRCm39)	missense	probably damaging	1.00
R2762:Prss1	UTSW	6	41,440,215 (GRCm39)	missense	possibly damaging	0.93
R2896:Prss1	UTSW	6	41,440,639 (GRCm39)	nonsense	probably null
R2915:Prss1	UTSW	6	41,439,545 (GRCm39)	missense	probably benign	0.11
R2959:Prss1	UTSW	6	41,440,172 (GRCm39)	missense	probably damaging	0.99
R5123:Prss1	UTSW	6	41,440,131 (GRCm39)	missense	possibly damaging	0.84
R5587:Prss1	UTSW	6	41,440,199 (GRCm39)	missense	possibly damaging	0.57
R5610:Prss1	UTSW	6	41,438,147 (GRCm39)	missense	probably benign	0.07
R6788:Prss1	UTSW	6	41,440,654 (GRCm39)	missense	possibly damaging	0.46
R7199:Prss1	UTSW	6	41,439,690 (GRCm39)	missense	probably damaging	1.00
R7552:Prss1	UTSW	6	41,439,507 (GRCm39)	missense	probably benign	0.05
R8812:Prss1	UTSW	6	41,439,520 (GRCm39)	missense	probably benign	0.01
R9136:Prss1	UTSW	6	41,438,280 (GRCm39)	splice site	probably benign
R9255:Prss1	UTSW	6	41,438,183 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGAAAGTGTGCTGTGGTGT -3'
(R):5'- TGTGTGTTACCAGGGGCAG -3'

Sequencing Primer
(F):5'- AGGGGATCTTTTTGCATTTCAAC -3'
(R):5'- AGAGGGATTGGGAATCTC -3'

Posted On

2018-06-06