Mutagenetix > Incidental Mutation

Incidental Mutation 'R7387:Prss35'

573190

Institutional Source

Beutler Lab

Gene Symbol

Prss35

Ensembl Gene

ENSMUSG00000033491

Gene Name

protease, serine 35

Synonyms

6030424L22Rik

MMRRC Submission

045469-MU

Accession Numbers

Essential gene?

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

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86743649-86758443 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86755921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 248 (T248I)

Ref Sequence

ENSEMBL: ENSMUSP00000035271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036426] [ENSMUST00000179574]

AlphaFold

Q8C0F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000036426
AA Change: T248I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035271
Gene: ENSMUSG00000033491
AA Change: T248I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
Tryp_SPc	132	399	4.13e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000179574
AA Change: T248I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137445
Gene: ENSMUSG00000033491
AA Change: T248I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
Tryp_SPc	132	399	4.13e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,505,577	Y182H	probably damaging	Het
Abca6	A	G	11: 110,202,420	V1009A	probably benign	Het
Abcg2	A	T	6: 58,689,624	I573F	possibly damaging	Het
Adck1	A	G	12: 88,461,052	T480A	probably benign	Het
Adcy5	T	C	16: 35,272,090	I607T	probably damaging	Het
Add2	A	G	6: 86,086,015	K52E	probably damaging	Het
Arid4a	T	A	12: 71,087,496	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,255,168	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,622,775	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,629,915	L224P	possibly damaging	Het
BC035947	A	G	1: 78,498,461	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,777,178	V17A	unknown	Het
Cad	T	C	5: 31,061,940	Y669H	probably damaging	Het
Ccdc110	A	T	8: 45,942,196	M375L	probably benign	Het
Cdc6	C	T	11: 98,908,216		probably benign	Het
Cdhr4	T	A	9: 107,996,912	Y72*	probably null	Het
Cenpe	T	G	3: 135,247,037	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,922,057	C28W	possibly damaging	Het
Cma2	A	G	14: 55,973,048	N120S	probably benign	Het
Cped1	A	T	6: 22,059,934	I200L	probably benign	Het
Cpsf1	A	T	15: 76,602,566	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,212,612	Q18*	probably null	Het
Dpp10	T	C	1: 123,341,140	E720G	probably benign	Het
Dus2	G	A	8: 106,045,987	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932	N769S	possibly damaging	Het
Ece1	T	A	4: 137,938,784	I313N	possibly damaging	Het
Ern1	A	T	11: 106,421,952	V201E	probably damaging	Het
Exoc3l	A	G	8: 105,294,973	L141P	probably damaging	Het
Fam168b	G	A	1: 34,819,708	T131M	probably damaging	Het
Fam212a	C	T	9: 107,984,427	R230H	probably damaging	Het
Fez1	T	C	9: 36,867,812	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,138,127	Y200H	probably damaging	Het
H2-Eb1	T	A	17: 34,314,233	V143D	probably damaging	Het
Ighv1-39	G	A	12: 114,914,868	P28S	probably benign	Het
Iqgap1	C	T	7: 80,720,990	V1544I	probably benign	Het
Itga10	A	T	3: 96,652,778	Q536L	probably benign	Het
Itih2	C	T	2: 10,130,508	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,639,781	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,778	S160R	probably benign	Het
Kif11	T	A	19: 37,409,756	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,574,517	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,476,614	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,212,972	T426A	probably damaging	Het
Mcidas	T	C	13: 112,994,088	F40L	probably benign	Het
Med27	T	A	2: 29,413,407	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,132,538	V249A	probably benign	Het
Mllt6	C	A	11: 97,674,600	A592D	probably benign	Het
Mrps5	C	T	2: 127,600,884	T291I	probably damaging	Het
Muc16	T	A	9: 18,641,720	T4426S	probably benign	Het
Myh1	A	T	11: 67,208,889	M542L	probably benign	Het
Nlrp12	G	T	7: 3,241,201	A227D	probably damaging	Het
Nlrp14	T	C	7: 107,183,107	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,266,080	S8G	probably benign	Het
Ntrk2	A	G	13: 58,985,979	K524R	probably damaging	Het
Nup210	C	T	6: 91,021,396		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1186	T	A	2: 88,526,400	Y272*	probably null	Het
Olfr197	A	T	16: 59,186,336	I49N	probably damaging	Het
Olfr677	T	A	7: 105,057,090	Y281*	probably null	Het
Patl1	A	G	19: 11,933,730	I525M	probably benign	Het
Pcnx3	A	G	19: 5,673,336	L1277P	probably benign	Het
Pelp1	G	A	11: 70,396,599	T461I	probably damaging	Het
Phf20	T	C	2: 156,294,240	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,901,203	Y1193F		Het
Pknox2	G	T	9: 36,957,068		probably benign	Het
Pml	T	C	9: 58,229,894	T541A	probably benign	Het
Rccd1	T	A	7: 80,320,602	N89I	probably benign	Het
Rcor3	T	C	1: 192,137,524		probably benign	Het
Rreb1	A	G	13: 37,947,064	E16G	unknown	Het
Scgb2b12	T	A	7: 32,326,635	H44L	probably benign	Het
Sec23ip	C	T	7: 128,745,003		probably benign	Het
Sgsm1	A	C	5: 113,263,700	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841	F116L	possibly damaging	Het
Spats2l	T	C	1: 57,902,134	V253A	probably damaging	Het
Spopl	A	T	2: 23,537,509	F204I	probably benign	Het
Sqle	G	A	15: 59,330,754	R519Q	probably benign	Het
Stil	T	G	4: 115,024,036	H592Q	probably benign	Het
Strip1	T	A	3: 107,625,730	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,699,930	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,519,443		probably null	Het
Tmem184c	A	T	8: 77,597,930	Y310*	probably null	Het
Tmem30c	T	C	16: 57,270,023	N274D	probably benign	Het
Trim30c	T	A	7: 104,390,190	I133F	probably damaging	Het
Vars	C	T	17: 35,004,792	Q228*	probably null	Het
Zdbf2	G	A	1: 63,304,039	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,612,641		probably null	Het

Other mutations in Prss35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Prss35	APN	9	86755274	missense	probably benign	0.00
IGL02749:Prss35	APN	9	86756244	missense	probably damaging	1.00
R0346:Prss35	UTSW	9	86755351	missense	probably benign	0.04
R0403:Prss35	UTSW	9	86756037	missense	probably damaging	1.00
R1664:Prss35	UTSW	9	86755647	missense	probably benign	0.29
R2016:Prss35	UTSW	9	86755512	missense	probably benign	0.37
R2017:Prss35	UTSW	9	86755512	missense	probably benign	0.37
R2325:Prss35	UTSW	9	86756304	missense	probably damaging	1.00
R2429:Prss35	UTSW	9	86755345	missense	probably benign
R2965:Prss35	UTSW	9	86755582	missense	probably damaging	1.00
R2966:Prss35	UTSW	9	86755582	missense	probably damaging	1.00
R3961:Prss35	UTSW	9	86755749	missense	probably benign	0.02
R4792:Prss35	UTSW	9	86755669	missense	probably damaging	1.00
R4902:Prss35	UTSW	9	86756122	missense	probably damaging	1.00
R6169:Prss35	UTSW	9	86755438	missense	probably benign	0.00
R6446:Prss35	UTSW	9	86755653	missense	probably damaging	0.99
R6753:Prss35	UTSW	9	86756100	missense	probably damaging	1.00
R7008:Prss35	UTSW	9	86756308	missense	probably benign	0.01
R7523:Prss35	UTSW	9	86755374	missense	probably damaging	1.00
R7587:Prss35	UTSW	9	86755374	missense	probably damaging	1.00
R7652:Prss35	UTSW	9	86755970	missense	probably benign
R8013:Prss35	UTSW	9	86755425	missense	probably damaging	1.00
R8194:Prss35	UTSW	9	86755613	missense	possibly damaging	0.94
R8871:Prss35	UTSW	9	86755191	missense	possibly damaging	0.84
R9444:Prss35	UTSW	9	86756104	missense	probably damaging	1.00
R9462:Prss35	UTSW	9	86756339	missense
R9695:Prss35	UTSW	9	86755708	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGTCCACGATGGGAAG -3'
(R):5'- CCTGTCGTTGTCAAATCCAGAG -3'

Sequencing Primer
(F):5'- TCCACGATGGGAAGGACTATGTC -3'
(R):5'- CTGTCGTTGTCAAATCCAGAGAAGTG -3'

Posted On

2019-09-13