Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Prss36'

37688

Institutional Source

Beutler Lab

Gene Symbol

Prss36

Ensembl Gene

ENSMUSG00000070371

Gene Name

protease, serine 36

Synonyms

polyserase-2, C330007D15Rik

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0295 (G1)

Quality Score

128

Status

Validated

Chromosome

Chromosomal Location

127932638-127946725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127935855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 418 (T418P)

Ref Sequence

ENSEMBL: ENSMUSP00000112659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094026] [ENSMUST00000118755] [ENSMUST00000141385] [ENSMUST00000156152]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094026
AA Change: T429P

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091565
Gene: ENSMUSG00000070371
AA Change: T429P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	47	287	3.75e-88	SMART
Pfam:Trypsin	325	556	1.2e-16	PFAM
Pfam:Trypsin	599	798	6.6e-20	PFAM
Pfam:DUF1986	607	707	1.4e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118755
AA Change: T418P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112659
Gene: ENSMUSG00000070371
AA Change: T418P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	47	287	3.75e-88	SMART
Pfam:Trypsin	325	545	9.7e-18	PFAM
Pfam:Trypsin	588	787	6.5e-20	PFAM
Pfam:DUF1986	590	696	8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141385

SMART Domains

Protein: ENSMUSP00000120544
Gene: ENSMUSG00000070371

Domain	Start	End	E-Value	Type
Blast:Tryp_SPc	38	121	3e-44	BLAST
SCOP:d1eaxa_	45	126	7e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150591

SMART Domains

Protein: ENSMUSP00000121532
Gene: ENSMUSG00000070371

Domain	Start	End	E-Value	Type
Tryp_SPc	15	194	6.48e-2	SMART
Blast:Tryp_SPc	231	311	4e-30	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153110

Predicted Effect

probably benign
Transcript: ENSMUST00000156152

SMART Domains

Protein: ENSMUSP00000121706
Gene: ENSMUSG00000070371

Domain	Start	End	E-Value	Type
Blast:Tryp_SPc	2	44	1e-21	BLAST
Tryp_SPc	89	238	8.18e-2	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,282,594	I173N	probably damaging	Het
2610028H24Rik	G	A	10: 76,454,808	S127N	probably damaging	Het
Abcc8	T	C	7: 46,118,054	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,548,005		probably null	Het
Adh4	A	G	3: 138,429,076	D337G	probably damaging	Het
Apob	T	A	12: 8,002,181	Y1207*	probably null	Het
Birc6	T	C	17: 74,613,362		probably benign	Het
Bms1	A	G	6: 118,389,337	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,356,211	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,356,870	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,173,789	K586N	probably damaging	Het
Cep290	A	C	10: 100,537,821	E1321A	probably damaging	Het
Ctc1	A	G	11: 69,030,588	K682E	possibly damaging	Het
Cux1	A	C	5: 136,313,212	V442G	probably benign	Het
Dph2	A	T	4: 117,890,930	V150E	possibly damaging	Het
Etv6	A	G	6: 134,266,275	D331G	probably benign	Het
Fbxo42	A	G	4: 141,200,497	D696G	probably damaging	Het
Fbxo8	G	A	8: 56,590,074	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840	T73A	possibly damaging	Het
H2afj	C	G	6: 136,808,604	R89G	probably damaging	Het
Ifng	G	T	10: 118,441,249	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,709,477		probably null	Het
Knl1	A	C	2: 119,088,839	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,701,108	Y108*	probably null	Het
Lcp1	A	G	14: 75,199,420	I69V	probably null	Het
Lrp6	A	T	6: 134,457,693	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,565,849	E1009D	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Med14	G	C	X: 12,685,748	R1223G	probably damaging	Het
Mesd	C	T	7: 83,897,865	Q179*	probably null	Het
Myh7	A	G	14: 54,984,821		probably benign	Het
Myo6	T	C	9: 80,283,579	I804T	probably damaging	Het
Neb	T	C	2: 52,284,285	I1521V	possibly damaging	Het
Nosip	T	A	7: 45,076,916	I249N	probably damaging	Het
Nostrin	A	C	2: 69,179,416	E296A	probably benign	Het
Olfr1280	T	A	2: 111,316,154	V225D	probably damaging	Het
Olfr136	A	T	17: 38,335,291	I45F	probably damaging	Het
Olfr491	T	G	7: 108,317,685	S264A	probably benign	Het
Olfr624	T	C	7: 103,670,311	H240R	probably damaging	Het
Oprk1	T	C	1: 5,598,850	L173S	possibly damaging	Het
Pdzd7	A	G	19: 45,037,072	V328A	probably benign	Het
Podxl2	A	T	6: 88,849,678	S215R	probably benign	Het
Ralgps2	T	A	1: 156,823,985		probably benign	Het
Rasa2	T	C	9: 96,545,810		probably null	Het
Rgs1	A	T	1: 144,245,486	I149N	probably damaging	Het
Rgs16	A	G	1: 153,743,737	E163G	probably damaging	Het
Rnf121	A	G	7: 102,035,346	F120S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slfn8	A	T	11: 83,003,343	Y823*	probably null	Het
Spdl1	A	T	11: 34,813,343	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,356,203		probably benign	Het
Tet3	G	A	6: 83,369,139	P1304S	probably benign	Het
Timm29	T	C	9: 21,593,076		probably null	Het
Tpcn1	T	A	5: 120,539,060	I687F	probably damaging	Het
Trim46	A	G	3: 89,245,113		probably benign	Het
Ttc23	T	A	7: 67,669,852		probably benign	Het
Ttll6	G	T	11: 96,154,714	V586L	probably benign	Het
Ttn	A	T	2: 76,758,611		probably benign	Het
Uba3	A	T	6: 97,191,583	H160Q	possibly damaging	Het
Usp32	A	G	11: 85,053,692	S316P	probably damaging	Het
Vcan	T	C	13: 89,712,191	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,817,472	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,307,616	S138P	probably damaging	Het

Other mutations in Prss36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Prss36	APN	7	127944927	splice site	probably benign
IGL01473:Prss36	APN	7	127944701	missense	probably damaging	0.98
IGL03139:Prss36	APN	7	127933611	missense	probably damaging	1.00
R0111:Prss36	UTSW	7	127934545	missense	probably damaging	1.00
R1771:Prss36	UTSW	7	127933453	missense	probably damaging	1.00
R1827:Prss36	UTSW	7	127933492	missense	probably damaging	1.00
R3935:Prss36	UTSW	7	127934608	missense	probably damaging	1.00
R4257:Prss36	UTSW	7	127932838	unclassified	probably benign
R4694:Prss36	UTSW	7	127935615	missense	probably damaging	1.00
R5384:Prss36	UTSW	7	127936699	missense	probably damaging	1.00
R5464:Prss36	UTSW	7	127934233	missense	probably damaging	1.00
R5524:Prss36	UTSW	7	127934465	nonsense	probably null
R5749:Prss36	UTSW	7	127933642	missense	probably damaging	1.00
R5905:Prss36	UTSW	7	127933572	missense	probably benign	0.26
R5992:Prss36	UTSW	7	127944830	missense	probably damaging	1.00
R6033:Prss36	UTSW	7	127934567	missense	probably benign	0.07
R6033:Prss36	UTSW	7	127934567	missense	probably benign	0.07
R6971:Prss36	UTSW	7	127945238	missense	probably benign	0.15
R7050:Prss36	UTSW	7	127944765	missense	possibly damaging	0.71
R7232:Prss36	UTSW	7	127935591	missense	probably benign	0.07
R7271:Prss36	UTSW	7	127944705	missense	probably benign	0.10
R8679:Prss36	UTSW	7	127933463	missense	possibly damaging	0.89
R9232:Prss36	UTSW	7	127944816	missense	probably benign
R9327:Prss36	UTSW	7	127933398	nonsense	probably null
R9356:Prss36	UTSW	7	127946525	start gained	probably benign
R9433:Prss36	UTSW	7	127934167	missense	probably benign	0.01
R9471:Prss36	UTSW	7	127946433	missense	probably benign	0.01
R9577:Prss36	UTSW	7	127934501	missense	probably benign	0.45
Z1088:Prss36	UTSW	7	127934537	nonsense	probably null
Z1177:Prss36	UTSW	7	127933833	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTTCCTGCTGCTCACCCAACATAG -3'
(R):5'- AGCTCACCCCACGATTTTGAGACC -3'

Sequencing Primer
(F):5'- GGCCGTACAGGCAATGAC -3'
(R):5'- CACGATTTTGAGACCTGGCG -3'

Posted On

2013-05-23