Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Tmprss15'

371116

Institutional Source

Beutler Lab

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

A130097D21Rik, enterokinase, enteropeptidase, Prss7

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78953008-79091097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79024438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 457 (Y457H)

Ref Sequence

ENSEMBL: ENSMUSP00000052034 (fasta)

Gene Model

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

AlphaFold

P97435

Predicted Effect

probably damaging
Transcript: ENSMUST00000023566
AA Change: Y472H

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

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: Y472H

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 damaging
Transcript: ENSMUST00000060402
AA Change: Y457H

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

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: Y457H

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

Meta Mutation Damage Score

0.4453

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,584,978		probably null	Het
Abca13	A	C	11: 9,309,034	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,149,408		noncoding transcript	Het
Anapc1	T	C	2: 128,676,249		probably null	Het
Bmp7	T	G	2: 172,916,542	D178A	probably benign	Het
Brsk1	T	A	7: 4,698,750	I170N	probably damaging	Het
Bub3	C	T	7: 131,566,335	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,400,280	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,951,353	K20N	probably benign	Het
Clec12a	A	T	6: 129,353,464		probably benign	Het
Col12a1	T	A	9: 79,662,488	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 27,029,275	I57N	probably damaging	Het
Dip2b	T	C	15: 100,162,036	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,229	R1188H	probably benign	Het
Dopey1	T	C	9: 86,503,143		probably benign	Het
Efcab5	T	A	11: 77,090,458	N1354I	probably damaging	Het
Eif4b	T	A	15: 102,086,641		probably null	Het
Elmsan1	A	T	12: 84,173,111	D356E	probably benign	Het
Erlec1	A	G	11: 30,943,697		probably null	Het
Esp24	T	C	17: 39,040,077		probably benign	Het
Esp34	T	C	17: 38,559,491	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,568,232		probably benign	Het
Foxc2	T	C	8: 121,117,452	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178	L117V	probably benign	Het
Grk3	A	G	5: 112,920,136	F467S	probably damaging	Het
Grwd1	C	T	7: 45,827,780	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,260,629	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Lhx4	A	G	1: 155,710,134	Y83H	probably damaging	Het
Mdga1	T	C	17: 29,850,656	T413A	probably damaging	Het
Mmrn2	T	A	14: 34,397,616	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,259,589	R133C	probably damaging	Het
Myh13	A	C	11: 67,344,881		probably null	Het
Nkain3	C	A	4: 20,282,985	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,400,272	Q212P	probably damaging	Het
Olfr268-ps1	T	C	2: 111,844,345		noncoding transcript	Het
Olfr726	A	G	14: 50,084,603	F26S	probably benign	Het
Otog	T	C	7: 46,285,124	Y1369H	probably damaging	Het
Prl	A	G	13: 27,064,351	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467	I373F	possibly damaging	Het
Rad18	A	T	6: 112,693,529	C25S	probably damaging	Het
Rgs12	A	G	5: 35,032,311	T678A	probably damaging	Het
Scaper	T	A	9: 55,858,115	E557V	probably damaging	Het
Scube3	C	T	17: 28,164,788	P511L	probably null	Het
Sgpl1	A	G	10: 61,104,452		probably benign	Het
Slc10a1	C	A	12: 80,967,804	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,418,471	N369S	probably damaging	Het
Sstr5	T	C	17: 25,491,224	T344A	probably benign	Het
Tgm4	C	T	9: 123,066,752	T631I	probably benign	Het
Trpm7	A	T	2: 126,795,509		probably null	Het
Trpm7	A	T	2: 126,848,538	W207R	probably damaging	Het
Ttc26	A	G	6: 38,381,557		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Usp2	A	T	9: 44,091,259	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,230,176	V169I	probably benign	Het
Vopp1	A	C	6: 57,762,476	F29C	probably damaging	Het
Wrn	T	C	8: 33,251,832	D953G	probably damaging	Het
Zfp759	T	A	13: 67,139,643	C419*	probably null	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
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
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
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
R9747:Tmprss15	UTSW	16	79087512	missense	probably benign	0.04
R9767:Tmprss15	UTSW	16	79079089	missense	probably damaging	1.00
R9783:Tmprss15	UTSW	16	79091002	start gained	probably benign
RF005:Tmprss15	UTSW	16	78953801	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CATGAGTGGACTGCAAATTATTCC -3'
(R):5'- GGAAGCAGGCTCATATTTCAC -3'

Sequencing Primer
(F):5'- GGAAAGAAAGTTACTAGCTTTTCTCC -3'
(R):5'- GGCTCATATTTCACTATGATTTTGGC -3'

Posted On

2016-02-19