Mutagenetix > Incidental Mutation

Incidental Mutation 'R0552:Tmprss15'

45260

Institutional Source

Beutler Lab

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

A130097D21Rik, enterokinase, enteropeptidase, Prss7

MMRRC Submission

038744-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0552 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78953008-79091097 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 79024749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000052034 (fasta)

Gene Model

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

AlphaFold

P97435

Predicted Effect

probably null
Transcript: ENSMUST00000023566

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857

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

probably null
Transcript: ENSMUST00000060402

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857

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: 98.5%
10x: 96.8%
20x: 94.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 24,963,010	N760K	probably benign	Het
Akr1b10	A	G	6: 34,392,985	T216A	possibly damaging	Het
Arsj	A	G	3: 126,439,344	R580G	probably benign	Het
C9	A	T	15: 6,445,437	I26F	probably damaging	Het
Cacna2d1	A	G	5: 16,328,043	E578G	probably damaging	Het
Clca4b	C	T	3: 144,916,775	V510I	probably benign	Het
Dab2	C	T	15: 6,435,414	T561I	possibly damaging	Het
E430018J23Rik	A	T	7: 127,392,332	I161N	possibly damaging	Het
Gm4737	T	A	16: 46,154,592	T141S	probably benign	Het
Golga5	A	T	12: 102,484,493	E12D	possibly damaging	Het
Hsd17b12	A	T	2: 94,043,935	F208I	probably damaging	Het
Inf2	A	G	12: 112,612,574		probably benign	Het
Kcnh3	T	A	15: 99,229,456	W378R	probably damaging	Het
Klhdc8b	G	C	9: 108,449,223	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Lcn3	T	C	2: 25,766,409		probably null	Het
Mppe1	A	G	18: 67,237,348		probably null	Het
Muc20	G	A	16: 32,793,930	A359V	probably damaging	Het
Myh14	T	C	7: 44,613,681	D1765G	probably damaging	Het
Olfr1257	C	T	2: 89,880,891	Q22*	probably null	Het
Olfr418	T	C	1: 173,270,805	M210T	probably benign	Het
Olfr482	A	G	7: 108,094,778	M264T	probably benign	Het
Pbrm1	T	A	14: 31,035,959	L182Q	probably damaging	Het
Pde8a	A	G	7: 81,317,347	N412S	probably benign	Het
Phyh	A	G	2: 4,936,101	T271A	probably damaging	Het
Pkhd1l1	T	C	15: 44,489,546	S258P	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pyroxd1	A	G	6: 142,345,737	E2G	probably benign	Het
Ralgapa1	G	T	12: 55,676,765	Q2115K	probably benign	Het
Rufy3	A	G	5: 88,584,270	E44G	possibly damaging	Het
Slit2	A	T	5: 48,238,379	N712I	probably damaging	Het
Sptbn1	A	G	11: 30,145,985	M303T	possibly damaging	Het
Ssbp4	A	G	8: 70,599,859	I154T	probably benign	Het
Syne2	A	G	12: 75,931,004	K1409E	probably benign	Het
Tfap2b	T	C	1: 19,234,225	Y420H	probably damaging	Het
Tlr5	A	G	1: 182,975,696		probably null	Het
Tns1	A	T	1: 73,920,563	I418N	probably damaging	Het
Txlna	A	T	4: 129,629,191	V452D	probably benign	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zfp563	A	T	17: 33,104,685	S85C	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
beached	UTSW	16	79024848	missense	possibly damaging	0.62
Cellulite	UTSW	16	78957371	missense	probably damaging	1.00
lolling	UTSW	16	79003410	missense	probably benign	0.26
miniature	UTSW	16	79057609	critical splice donor site	probably null
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
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
R2866:Tmprss15	UTSW	16	79035233	missense	possibly damaging	0.65
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	splice site	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
R7018:Tmprss15	UTSW	16	79024853	missense	possibly damaging	0.78
R7180:Tmprss15	UTSW	16	78967998	missense	probably damaging	0.97
R7324:Tmprss15	UTSW	16	78962019	missense	probably damaging	1.00
R7337:Tmprss15	UTSW	16	79071276	missense	probably benign	0.01
R7558:Tmprss15	UTSW	16	79003414	missense	possibly damaging	0.55
R7732:Tmprss15	UTSW	16	79003420	missense	probably benign	0.11
R7792:Tmprss15	UTSW	16	79003387	missense	probably damaging	1.00
R7829:Tmprss15	UTSW	16	78987650	missense	probably benign	0.02
R7998:Tmprss15	UTSW	16	79001843	missense	possibly damaging	0.79
R8009:Tmprss15	UTSW	16	79090863	missense	probably damaging	0.96
R8145:Tmprss15	UTSW	16	78960585	missense	probably damaging	1.00
R8183:Tmprss15	UTSW	16	79087512	missense	probably benign	0.04
R8221:Tmprss15	UTSW	16	79024335	missense	probably damaging	0.99
R8294:Tmprss15	UTSW	16	79071288	missense	probably benign
R8537:Tmprss15	UTSW	16	79087515	missense	probably damaging	0.99
R8735:Tmprss15	UTSW	16	79001814	missense	possibly damaging	0.88
R8858:Tmprss15	UTSW	16	79057609	critical splice donor site	probably null
R8869:Tmprss15	UTSW	16	78953946	nonsense	probably null
R8884:Tmprss15	UTSW	16	79024769	missense	probably benign	0.00
R9014:Tmprss15	UTSW	16	79075803	missense	probably benign	0.04
R9075:Tmprss15	UTSW	16	78957371	missense	probably damaging	1.00
R9351:Tmprss15	UTSW	16	79035198	missense	probably damaging	1.00
R9393:Tmprss15	UTSW	16	78957323	missense	probably benign	0.01
RF005:Tmprss15	UTSW	16	78953801	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTATCTTGTCTGTGGTTTCAGCACTG -3'
(R):5'- TGGACGCAAGTCTAGTATCTCTTCCAG -3'

Sequencing Primer
(F):5'- CAGCACATGTAATACCTGGTTTGG -3'
(R):5'- CTCTTCCAGTGTGCAAAGAATGC -3'

Posted On

2013-06-11