Mutagenetix > Incidental Mutation

Incidental Mutation 'R4289:Prss45'

322343

Institutional Source

Beutler Lab

Gene Symbol

Prss45

Ensembl Gene

ENSMUSG00000047257

Gene Name

serine protease 45

Synonyms

MMRRC Submission

041654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4289 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110663656-110670378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110669997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 269 (T269A)

Ref Sequence

ENSEMBL: ENSMUSP00000011391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011391] [ENSMUST00000146794] [ENSMUST00000176403]

AlphaFold

Q8K4I7

Predicted Effect

probably benign
Transcript: ENSMUST00000011391
AA Change: T269A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000011391
Gene: ENSMUSG00000047257
AA Change: T269A

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Tryp_SPc	44	286	6.39e-50	SMART
low complexity region	302	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146794
AA Change: T260A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000120471
Gene: ENSMUSG00000047257
AA Change: T260A

Domain	Start	End	E-Value	Type
Tryp_SPc	35	277	3.19e-50	SMART
low complexity region	293	308	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176403

SMART Domains

Protein: ENSMUSP00000135787
Gene: ENSMUSG00000049719

Domain	Start	End	E-Value	Type
Tryp_SPc	43	276	1.62e-60	SMART
transmembrane domain	291	313	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	C	T	3: 32,766,263 (GRCm39)	T39M	possibly damaging	Het
Arhgdib	T	C	6: 136,901,156 (GRCm39)	N191S	probably benign	Het
Arhgef39	A	G	4: 43,497,353 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,947,233 (GRCm39)	R1139C	probably damaging	Het
Cdhr5	A	T	7: 140,852,752 (GRCm39)	I78N	probably damaging	Het
Cfap97	T	A	8: 46,645,698 (GRCm39)	N525K	probably benign	Het
Cntn2	T	A	1: 132,455,481 (GRCm39)	Y252F	probably benign	Het
Cyp3a57	G	A	5: 145,286,207 (GRCm39)	G48S	probably damaging	Het
Cyp4v3	A	C	8: 45,781,260 (GRCm39)	F73V	possibly damaging	Het
Ear10	T	C	14: 44,160,404 (GRCm39)	D141G	probably benign	Het
Fbn2	T	C	18: 58,168,411 (GRCm39)	I2309V	probably damaging	Het
Fcrl5	A	G	3: 87,349,531 (GRCm39)	D102G	probably benign	Het
Fdxacb1	A	T	9: 50,683,879 (GRCm39)	Q614L	probably damaging	Het
Gm10267	T	C	18: 44,290,331 (GRCm39)	T59A	probably damaging	Het
Gm5581	C	T	6: 131,144,519 (GRCm39)		noncoding transcript	Het
Gm5592	G	T	7: 40,808,336 (GRCm39)		probably benign	Het
Gtf2a1l	A	G	17: 89,001,884 (GRCm39)	T200A	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ift122	T	C	6: 115,900,852 (GRCm39)	C1057R	probably damaging	Het
Kirrel3	A	T	9: 34,934,769 (GRCm39)	N73I	probably benign	Het
Kndc1	A	G	7: 139,490,798 (GRCm39)	I433M	probably benign	Het
Mks1	T	C	11: 87,747,530 (GRCm39)		probably benign	Het
Mmp14	A	T	14: 54,673,665 (GRCm39)	K110*	probably null	Het
Mms19	A	G	19: 41,933,992 (GRCm39)	L938P	probably damaging	Het
Mrpl36	A	T	13: 73,479,777 (GRCm39)		probably null	Het
Mypn	T	C	10: 62,966,961 (GRCm39)	E905G	probably damaging	Het
Ncam1	G	T	9: 49,468,472 (GRCm39)	T329N	probably damaging	Het
Nfkbie	T	C	17: 45,869,516 (GRCm39)	L157P	probably damaging	Het
Or14c45	T	A	7: 86,176,262 (GRCm39)	I99N	probably damaging	Het
Or4f47	T	A	2: 111,972,319 (GRCm39)	S10T	probably benign	Het
Pappa	C	T	4: 65,074,100 (GRCm39)	A218V	probably benign	Het
Plekhg5	T	C	4: 152,196,884 (GRCm39)	Y737H	probably benign	Het
Plod2	G	A	9: 92,485,041 (GRCm39)	R514Q	possibly damaging	Het
Plxnb1	C	T	9: 108,943,420 (GRCm39)	R1888W	probably damaging	Het
Ptpn13	A	G	5: 103,681,151 (GRCm39)	T784A	probably damaging	Het
Pycr3	T	C	15: 75,790,655 (GRCm39)	N68S	probably benign	Het
Rbis	T	C	3: 14,674,714 (GRCm39)	M1V	probably null	Het
Rdh14	A	T	12: 10,444,949 (GRCm39)	N267Y	probably benign	Het
Rph3a	G	A	5: 121,111,368 (GRCm39)	R71C	probably damaging	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Spata13	T	A	14: 60,928,523 (GRCm39)	V27E	probably damaging	Het
Tbc1d1	T	A	5: 64,417,771 (GRCm39)	S312T	probably damaging	Het
Tcp11l2	T	C	10: 84,440,937 (GRCm39)		probably null	Het
Trdn	C	T	10: 33,340,578 (GRCm39)	S604L	probably benign	Het
Ttn	T	C	2: 76,640,742 (GRCm39)	T13669A	probably benign	Het
Tyw3	A	T	3: 154,302,645 (GRCm39)	F30I	probably damaging	Het
Vmn1r227	G	T	17: 20,956,092 (GRCm39)		noncoding transcript	Het
Vmn2r74	C	T	7: 85,606,562 (GRCm39)	M261I	probably benign	Het
Zfp217	C	T	2: 169,956,707 (GRCm39)	G764S	probably benign	Het
Zfp267	A	G	3: 36,213,747 (GRCm39)	N27S	possibly damaging	Het
Zfp748	T	A	13: 67,689,202 (GRCm39)	H686L	probably damaging	Het

Other mutations in Prss45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Prss45	APN	9	110,670,073 (GRCm39)	missense	probably damaging	1.00
IGL00561:Prss45	APN	9	110,669,578 (GRCm39)	missense	probably damaging	1.00
IGL03392:Prss45	APN	9	110,669,618 (GRCm39)	nonsense	probably null
BB002:Prss45	UTSW	9	110,670,103 (GRCm39)	missense	unknown
BB012:Prss45	UTSW	9	110,670,103 (GRCm39)	missense	unknown
PIT4260001:Prss45	UTSW	9	110,667,513 (GRCm39)	missense	probably benign	0.00
R0025:Prss45	UTSW	9	110,669,962 (GRCm39)	missense	probably damaging	0.99
R0576:Prss45	UTSW	9	110,667,497 (GRCm39)	missense	probably benign
R1464:Prss45	UTSW	9	110,670,019 (GRCm39)	missense	possibly damaging	0.56
R1464:Prss45	UTSW	9	110,670,019 (GRCm39)	missense	possibly damaging	0.56
R1572:Prss45	UTSW	9	110,667,497 (GRCm39)	missense	probably benign	0.00
R2420:Prss45	UTSW	9	110,668,160 (GRCm39)	missense	possibly damaging	0.48
R5049:Prss45	UTSW	9	110,669,538 (GRCm39)	missense	probably damaging	0.98
R6761:Prss45	UTSW	9	110,669,487 (GRCm39)	missense	probably damaging	1.00
R7379:Prss45	UTSW	9	110,668,261 (GRCm39)	missense	possibly damaging	0.89
R7925:Prss45	UTSW	9	110,670,103 (GRCm39)	missense	unknown
R9348:Prss45	UTSW	9	110,668,278 (GRCm39)	missense	probably damaging	1.00
Z1177:Prss45	UTSW	9	110,668,114 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTCCGGGAGAAATGATTC -3'
(R):5'- CTGACTGTGGGATATGGACAG -3'

Sequencing Primer
(F):5'- CTCCGGGAGAAATGATTCTTTCAAGC -3'
(R):5'- TGGACAGGCCACCATGC -3'

Posted On

2015-06-20