Mutagenetix > Incidental Mutation

Incidental Mutation 'R1755:Prss59'

194770

Institutional Source

Beutler Lab

Gene Symbol

Prss59

Ensembl Gene

ENSMUSG00000029883

Gene Name

serine protease 59

Synonyms

Tryx5, 1700074P13Rik

MMRRC Submission

039787-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40897371-40917491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 40903096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 92 (Y92S)

Ref Sequence

ENSEMBL: ENSMUSP00000116538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031935] [ENSMUST00000122181] [ENSMUST00000136499]

AlphaFold

Q9D9G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031935
AA Change: Y92S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031935
Gene: ENSMUSG00000029883
AA Change: Y92S

Domain	Start	End	E-Value	Type
Tryp_SPc	24	244	4.27e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122181
AA Change: Y92S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112987
Gene: ENSMUSG00000029883
AA Change: Y92S

Domain	Start	End	E-Value	Type
Tryp_SPc	24	244	4.27e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000136499
AA Change: Y92S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116538
Gene: ENSMUSG00000029883
AA Change: Y92S

Domain	Start	End	E-Value	Type
Tryp_SPc	24	174	6.08e-5	SMART

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	G	A	8: 88,315,585 (GRCm39)	R225H	possibly damaging	Het
9330159F19Rik	A	T	10: 29,098,290 (GRCm39)	H199L	possibly damaging	Het
Acaca	AC	A	11: 84,167,390 (GRCm39)		probably null	Het
Adam23	G	A	1: 63,582,329 (GRCm39)	V326M	probably damaging	Het
Aldh1a2	T	A	9: 71,169,023 (GRCm39)	Y168*	probably null	Het
Ano6	A	G	15: 95,870,451 (GRCm39)	K869E	possibly damaging	Het
Aplp2	G	A	9: 31,088,400 (GRCm39)	A106V	probably damaging	Het
Arhgdib	T	A	6: 136,906,612 (GRCm39)	K30*	probably null	Het
Arl11	A	G	14: 61,548,393 (GRCm39)	T68A	probably benign	Het
Atg7	A	G	6: 114,650,638 (GRCm39)	T83A	possibly damaging	Het
Card9	T	C	2: 26,249,546 (GRCm39)	E5G	probably damaging	Het
Cars1	A	G	7: 143,123,194 (GRCm39)	V474A	probably damaging	Het
Cd300ld2	A	G	11: 114,904,601 (GRCm39)	F89L	probably benign	Het
Celf2	T	A	2: 6,889,769 (GRCm39)	M1L	probably benign	Het
Cnot1	T	C	8: 96,451,205 (GRCm39)	D2174G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cox6b2	A	G	7: 4,754,937 (GRCm39)	F74S	probably damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Ddx3y	A	G	Y: 1,279,543 (GRCm39)	I107T	probably benign	Het
Dnah5	A	T	15: 28,326,782 (GRCm39)	Y1997F	probably damaging	Het
Dync2i1	A	G	12: 116,189,649 (GRCm39)	L620P	probably damaging	Het
Epha4	A	T	1: 77,364,460 (GRCm39)	I683N	probably damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gmip	A	G	8: 70,266,774 (GRCm39)	I296M	probably damaging	Het
Gpr37l1	A	G	1: 135,094,639 (GRCm39)	S202P	probably damaging	Het
Ifi208	C	A	1: 173,505,476 (GRCm39)	D75E	possibly damaging	Het
Il24	T	C	1: 130,811,680 (GRCm39)	N132S	possibly damaging	Het
Katnal2	A	G	18: 77,099,763 (GRCm39)	C124R	probably benign	Het
Kcnq3	A	T	15: 65,867,270 (GRCm39)	L791Q	probably damaging	Het
Kcns3	T	A	12: 11,141,445 (GRCm39)	D418V	probably benign	Het
Kif13a	A	G	13: 46,906,089 (GRCm39)	V618A	possibly damaging	Het
Kif13a	A	T	13: 46,927,154 (GRCm39)	V1179E	possibly damaging	Het
Lpp	A	G	16: 24,663,874 (GRCm39)	I259V	probably benign	Het
Mapkapk2	A	G	1: 130,986,087 (GRCm39)		probably null	Het
Marchf7	T	C	2: 60,065,265 (GRCm39)	S514P	probably benign	Het
Nr4a2	T	A	2: 56,999,104 (GRCm39)	L381F	probably damaging	Het
Nt5dc3	A	G	10: 86,660,115 (GRCm39)	D328G	probably damaging	Het
Obox6	T	C	7: 15,568,445 (GRCm39)	K144E	probably damaging	Het
Oga	A	T	19: 45,746,845 (GRCm39)	M735K	possibly damaging	Het
Olfml2b	G	A	1: 170,509,346 (GRCm39)	V565M	probably damaging	Het
Or1d2	T	C	11: 74,255,819 (GRCm39)	V108A	probably damaging	Het
Orc3	G	A	4: 34,575,114 (GRCm39)	A590V	possibly damaging	Het
Picalm	T	C	7: 89,809,757 (GRCm39)	S78P	possibly damaging	Het
Por	T	A	5: 135,758,339 (GRCm39)	Y105*	probably null	Het
Ppara	A	G	15: 85,682,180 (GRCm39)	K292R	probably benign	Het
Pramel27	T	C	4: 143,577,380 (GRCm39)	F3S	probably damaging	Het
Ralgds	T	A	2: 28,440,558 (GRCm39)	I844N	probably damaging	Het
Rttn	T	C	18: 89,027,441 (GRCm39)	Y519H	probably damaging	Het
Scn9a	A	G	2: 66,332,060 (GRCm39)	V1261A	probably benign	Het
Slc2a2	T	A	3: 28,767,811 (GRCm39)		probably null	Het
Slc5a7	T	C	17: 54,600,006 (GRCm39)	M136V	probably benign	Het
Smc4	C	A	3: 68,941,441 (GRCm39)	A1232E	probably damaging	Het
Smg1	A	T	7: 117,802,287 (GRCm39)	C270*	probably null	Het
Sparcl1	C	T	5: 104,240,690 (GRCm39)	E245K	probably benign	Het
Taf2	T	C	15: 54,879,850 (GRCm39)	H1162R	probably damaging	Het
Tlr3	T	C	8: 45,851,010 (GRCm39)	D105G	probably benign	Het
Tmem62	T	C	2: 120,814,958 (GRCm39)		probably null	Het
Triobp	G	A	15: 78,850,679 (GRCm39)	A278T	probably benign	Het
Ufd1	T	G	16: 18,642,003 (GRCm39)	C151W	probably damaging	Het
Upk1b	T	G	16: 38,600,402 (GRCm39)	M193L	probably benign	Het
Usp15	A	G	10: 122,968,949 (GRCm39)	M334T	probably damaging	Het
Utp20	A	G	10: 88,645,631 (GRCm39)	S541P	probably benign	Het
Vmn1r61	A	T	7: 5,614,302 (GRCm39)	L4*	probably null	Het
Vmn2r96	G	A	17: 18,802,915 (GRCm39)	G83D	possibly damaging	Het
Zbtb8a	T	C	4: 129,248,110 (GRCm39)	D387G	possibly damaging	Het
Zfp106	A	T	2: 120,365,656 (GRCm39)	N250K	probably damaging	Het
Zfp292	A	G	4: 34,811,043 (GRCm39)	V667A	probably benign	Het

Other mutations in Prss59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03151:Prss59	APN	6	40,902,946 (GRCm39)	missense	probably damaging	1.00
R0041:Prss59	UTSW	6	40,903,042 (GRCm39)	nonsense	probably null
R0041:Prss59	UTSW	6	40,903,042 (GRCm39)	nonsense	probably null
R0686:Prss59	UTSW	6	40,905,452 (GRCm39)	missense	probably damaging	0.99
R0799:Prss59	UTSW	6	40,905,533 (GRCm39)	missense	probably damaging	0.97
R1250:Prss59	UTSW	6	40,902,909 (GRCm39)	critical splice donor site	probably null
R1499:Prss59	UTSW	6	40,898,652 (GRCm39)	missense	probably benign	0.26
R1678:Prss59	UTSW	6	40,906,453 (GRCm39)	start gained	probably benign
R1891:Prss59	UTSW	6	40,902,967 (GRCm39)	missense	possibly damaging	0.73
R3160:Prss59	UTSW	6	40,903,003 (GRCm39)	missense	probably benign	0.05
R3162:Prss59	UTSW	6	40,903,003 (GRCm39)	missense	probably benign	0.05
R4194:Prss59	UTSW	6	40,898,005 (GRCm39)	missense	probably damaging	1.00
R4750:Prss59	UTSW	6	40,897,955 (GRCm39)	missense	probably damaging	1.00
R6197:Prss59	UTSW	6	40,897,939 (GRCm39)	missense	probably benign	0.05
R6217:Prss59	UTSW	6	40,903,019 (GRCm39)	missense	possibly damaging	0.88
R6394:Prss59	UTSW	6	40,898,726 (GRCm39)	nonsense	probably null
R7966:Prss59	UTSW	6	40,903,022 (GRCm39)	missense	probably benign	0.02
R7991:Prss59	UTSW	6	40,905,444 (GRCm39)	critical splice donor site	probably null
R8937:Prss59	UTSW	6	40,902,999 (GRCm39)	nonsense	probably null
R8983:Prss59	UTSW	6	40,897,934 (GRCm39)	missense	possibly damaging	0.87
R9354:Prss59	UTSW	6	40,905,473 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGCCCTGATTTCCTCAGAATGAAG -3'
(R):5'- AGTTGGGTACTGCTCAAAAGCTGTC -3'

Sequencing Primer
(F):5'- CCAAACACTCACGGTTTTTGTAG -3'
(R):5'- GCACTGAAACCATCAAATGTTGTG -3'

Posted On

2014-05-23