Mutagenetix > Incidental Mutations

Incidental Mutation 'R2866:Tmprss15'

253284

Institutional Source

Beutler Lab

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

A130097D21Rik, enterokinase, enteropeptidase, Prss7

MMRRC Submission

040455-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.679) question?

Stock #

R2866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78953008-79091097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79035233 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 345 (D345V)

Ref Sequence

ENSEMBL: ENSMUSP00000023566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023566] [ENSMUST00000060402]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023566
AA Change: D345V

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: D345V

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
SEA	52	172	1.62e-22	SMART
LDLa	228	268	1.74e-4	SMART
CUB	270	379	1.54e-11	SMART
MAM	387	549	7.33e-54	SMART
low complexity region	551	567	N/A	INTRINSIC
CUB	569	679	1.72e-32	SMART
LDLa	687	724	7.32e-12	SMART
SR	723	813	3.12e-5	SMART
Tryp_SPc	829	1064	1.48e-95	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060402
AA Change: D330V

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: D330V

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
SEA	52	172	1.62e-22	SMART
LDLa	213	253	1.74e-4	SMART
CUB	255	364	1.54e-11	SMART
MAM	372	534	7.33e-54	SMART
low complexity region	536	552	N/A	INTRINSIC
CUB	554	664	1.72e-32	SMART
LDLa	672	709	7.32e-12	SMART
SR	708	798	3.12e-5	SMART
Tryp_SPc	814	1049	1.48e-95	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an enzyme that proteolytically activates the pancreatic proenzyme trypsinogen, converting it into trypsin. The encoded protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atmin	T	A	8: 116,956,373	D257E	probably benign	Het
Best1	T	C	19: 9,986,221	E532G	probably benign	Het
Cenpj	T	C	14: 56,552,180	H804R	probably benign	Het
Clec2g	T	C	6: 128,948,756	S43P	probably benign	Het
Col8a2	A	G	4: 126,311,199		probably benign	Het
Cpz	T	C	5: 35,502,361	K647E	probably benign	Het
Csmd2	T	C	4: 128,414,392		probably null	Het
Ctss	A	G	3: 95,545,406	K166R	probably benign	Het
Cyp2c23	T	C	19: 44,005,446	R494G	probably damaging	Het
Cyp2c68	A	G	19: 39,689,145	I467T	probably damaging	Het
Dcaf11	A	T	14: 55,565,745	T299S	possibly damaging	Het
Dennd1b	A	G	1: 139,170,281	S762G	possibly damaging	Het
Epb42	C	T	2: 121,025,921	A381T	possibly damaging	Het
Fhad1	A	G	4: 141,920,788	Y256H	probably benign	Het
Gfra1	C	T	19: 58,239,307	A395T	possibly damaging	Het
Gm10323	C	A	13: 66,854,510	C55F	probably benign	Het
Gm9573	T	C	17: 35,619,707		probably benign	Het
Greb1	T	C	12: 16,699,550	S1092G	probably damaging	Het
Grid1	A	T	14: 35,562,559	D753V	probably damaging	Het
Grin2b	A	G	6: 135,733,639	F970L	probably damaging	Het
Kcnma1	A	T	14: 23,373,207	N682K	probably benign	Het
Lat2	T	A	5: 134,605,944	D114V	probably damaging	Het
Lcat	C	T	8: 105,939,879	C337Y	probably damaging	Het
Mapk10	C	T	5: 103,038,682	D25N	probably benign	Het
Mroh7	C	T	4: 106,691,090	G1064R	probably damaging	Het
Olfr1089	A	T	2: 86,733,429	F61Y	possibly damaging	Het
Olfr1564	T	A	17: 33,216,278	H22L	probably benign	Het
Olfr467	T	A	7: 107,814,919	C112S	probably benign	Het
Olfr615	A	T	7: 103,560,857	I127F	probably damaging	Het
Psg27	T	A	7: 18,561,893	D209V	probably benign	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Pzp	A	G	6: 128,525,264	S41P	possibly damaging	Het
Rab23	A	T	1: 33,738,295	K163N	possibly damaging	Het
Rilpl2	T	C	5: 124,477,835	D84G	probably damaging	Het
Sorl1	A	G	9: 41,969,781	I2148T	probably benign	Het
Tead1	A	G	7: 112,759,487	E2G	probably damaging	Het
Tigd4	A	G	3: 84,593,952	N59D	possibly damaging	Het
Togaram2	T	C	17: 71,709,597	S649P	probably benign	Het
Ucp2	T	C	7: 100,497,252	V95A	probably benign	Het
Usp17lb	T	C	7: 104,840,748	D323G	probably damaging	Het
Zfp677	A	T	17: 21,397,256	K192*	probably null	Het
Zmym2	T	A	14: 56,928,248	I676K	probably damaging	Het
Znrd1as	A	T	17: 36,965,160	R211S	possibly damaging	Het

Other mutations in Tmprss15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Tmprss15	APN	16	78985994	missense	possibly damaging	0.87
IGL00477:Tmprss15	APN	16	79021413	missense	probably damaging	1.00
IGL01583:Tmprss15	APN	16	79071261	missense	probably benign
IGL01896:Tmprss15	APN	16	79090790	missense	probably benign	0.22
IGL02052:Tmprss15	APN	16	79087506	missense	probably damaging	1.00
IGL02374:Tmprss15	APN	16	79035168	missense	probably benign	0.00
IGL02505:Tmprss15	APN	16	78987741	missense	probably benign	0.00
IGL02632:Tmprss15	APN	16	78985902	missense	probably damaging	0.98
IGL02674:Tmprss15	APN	16	79001794	missense	possibly damaging	0.72
PIT1430001:Tmprss15	UTSW	16	79024752	critical splice donor site	probably null
R0106:Tmprss15	UTSW	16	79003389	missense	probably damaging	0.99
R0106:Tmprss15	UTSW	16	79003389	missense	probably damaging	0.99
R0195:Tmprss15	UTSW	16	79034334	missense	probably benign	0.05
R0335:Tmprss15	UTSW	16	79024742	splice site	probably benign
R0514:Tmprss15	UTSW	16	78968267	missense	probably benign	0.05
R0552:Tmprss15	UTSW	16	79024749	splice site	probably null
R0675:Tmprss15	UTSW	16	78985950	missense	probably damaging	0.98
R0739:Tmprss15	UTSW	16	79024848	missense	possibly damaging	0.62
R1435:Tmprss15	UTSW	16	79021454	missense	probably benign	0.03
R1446:Tmprss15	UTSW	16	79078958	missense	probably benign	0.01
R1572:Tmprss15	UTSW	16	79090829	missense	probably benign	0.00
R1708:Tmprss15	UTSW	16	79054070	missense	possibly damaging	0.95
R1893:Tmprss15	UTSW	16	79071418	missense	probably benign
R2403:Tmprss15	UTSW	16	79057690	missense	probably damaging	1.00
R2913:Tmprss15	UTSW	16	78962190	missense	probably benign	0.45
R2914:Tmprss15	UTSW	16	78962190	missense	probably benign	0.45
R3425:Tmprss15	UTSW	16	79003433	missense	possibly damaging	0.83
R3703:Tmprss15	UTSW	16	79054142	critical splice acceptor site	probably null
R3916:Tmprss15	UTSW	16	78985996	missense	probably damaging	1.00
R3950:Tmprss15	UTSW	16	79073186	missense	probably benign	0.04
R4332:Tmprss15	UTSW	16	79034334	missense	probably benign	0.15
R4392:Tmprss15	UTSW	16	79024438	missense	probably damaging	1.00
R4515:Tmprss15	UTSW	16	78957356	missense	probably benign	0.00
R4619:Tmprss15	UTSW	16	79021470	missense	probably damaging	1.00
R4620:Tmprss15	UTSW	16	79021470	missense	probably damaging	1.00
R4754:Tmprss15	UTSW	16	79054124	missense	probably damaging	0.98
R4853:Tmprss15	UTSW	16	78960591	missense	probably benign
R5159:Tmprss15	UTSW	16	79003410	missense	probably benign	0.26
R5441:Tmprss15	UTSW	16	79071447	critical splice acceptor site	probably null
R5824:Tmprss15	UTSW	16	79034313	missense	probably damaging	0.99
R5970:Tmprss15	UTSW	16	79057659	missense	probably benign	0.00
R6224:Tmprss15	UTSW	16	79024378	missense	probably benign	0.08
R6257:Tmprss15	UTSW	16	78972225	missense	probably damaging	1.00
R6313:Tmprss15	UTSW	16	78962170	missense	probably benign	0.16
R6368:Tmprss15	UTSW	16	79006057	intron	probably null
R6525:Tmprss15	UTSW	16	79003378	missense	probably damaging	0.97
R6587:Tmprss15	UTSW	16	79071429	missense	probably benign
R6894:Tmprss15	UTSW	16	79075814	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGATAAAGATACTGCAGTAACCAG -3'
(R):5'- CTTTGGTACTATGACGCTACTCTAG -3'

Sequencing Primer
(F):5'- TACTGCAGTAACCAGAGAGTCAGC -3'
(R):5'- GCTCTCATTGCTATGATATGGGACAC -3'

Posted On

2014-12-04