Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Tmprss15'

568781

Institutional Source

Beutler Lab

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

A130097D21Rik, enterokinase, enteropeptidase, Prss7

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78953008-79091097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78962019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 937 (Y937C)

Ref Sequence

ENSEMBL: ENSMUSP00000023566 (fasta)

Gene Model

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

AlphaFold

P97435

Predicted Effect

probably damaging
Transcript: ENSMUST00000023566
AA Change: Y937C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: Y937C

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: Y922C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: Y922C

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

0.5766

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,676,239	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,214,201	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,246,139	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,386,163	T552K	possibly damaging	Het
Arhgap28	T	C	17: 67,895,884		probably null	Het
Arid5b	A	T	10: 68,128,922	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,621	K56N	probably benign	Het
C2	C	T	17: 34,881,688	G52D	probably benign	Het
Casz1	C	T	4: 148,947,033	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,809,108	D778G	unknown	Het
Cdh5	A	G	8: 104,142,793	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,808,611	A445V	probably damaging	Het
Clca3b	T	A	3: 144,841,420	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,058,707	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 53,919,018	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,403,760	T381P	probably damaging	Het
Ddb2	G	A	2: 91,236,884		probably benign	Het
Ddx24	C	A	12: 103,416,259	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,829,738	L1615P	unknown	Het
Dnah8	T	A	17: 30,784,125	D3599E	probably benign	Het
Dst	T	C	1: 34,006,224	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,823,594	D156G	probably benign	Het
Enpp2	A	G	15: 54,877,774		probably null	Het
Ephx2	A	G	14: 66,085,354	V490A	probably damaging	Het
Etnppl	A	G	3: 130,629,575	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,193,581		probably benign	Het
Fam162b	A	T	10: 51,590,186		probably null	Het
Fancl	A	G	11: 26,403,362	E86G	probably damaging	Het
Flii	G	A	11: 60,719,040	T615I	probably benign	Het
Fndc7	G	T	3: 108,872,221	Q336K	probably benign	Het
Gm14025	T	C	2: 129,037,852	D718G	unknown	Het
Gm26661	T	C	14: 7,791,911	C109R	unknown	Het
H2-DMb1	T	C	17: 34,159,462		probably null	Het
H2-T10	C	T	17: 36,119,297	G251R	probably damaging	Het
Harbi1	T	C	2: 91,720,699	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,695,225	M119T	unknown	Het
Ighe	T	A	12: 113,272,334	Y124F		Het
Ighv7-1	T	C	12: 113,896,529	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,385,393		probably null	Het
Inpp5a	A	G	7: 139,525,670	D179G	probably damaging	Het
Itgad	A	T	7: 128,189,807	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,560,071	H238L	probably benign	Het
Kctd17	T	A	15: 78,435,642	C189S	probably damaging	Het
Larp4b	C	A	13: 9,158,580	A423E	probably benign	Het
Llgl2	A	G	11: 115,850,730	E562G	possibly damaging	Het
Macf1	T	C	4: 123,374,425	T6734A	probably benign	Het
Maz	G	A	7: 127,024,593	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,944,933	G125*	probably null	Het
Mvp	A	G	7: 126,993,609	S377P	probably benign	Het
Nin	C	T	12: 70,043,734	R969Q		Het
Nktr	C	T	9: 121,727,361	T35I	probably damaging	Het
Nktr	T	A	9: 121,748,291	M475K	possibly damaging	Het
Nod2	T	A	8: 88,653,066	V65D	probably damaging	Het
Olfr1249	A	T	2: 89,630,103	I265N	possibly damaging	Het
Olfr135	T	C	17: 38,208,716	V157A	probably benign	Het
Olfr1487	A	G	19: 13,619,578	I96V	probably benign	Het
Olfr1493-ps1	C	T	19: 13,726,906	A215V	probably benign	Het
Olfr203	T	C	16: 59,303,248	F32L	probably benign	Het
Olfr398	A	G	11: 73,983,843	V255A	probably benign	Het
Olfr794	T	A	10: 129,570,849	S65T	probably damaging	Het
Olfr868	A	T	9: 20,101,430	I224F	possibly damaging	Het
Opa1	A	T	16: 29,586,981	E121D	probably benign	Het
Osbpl2	A	G	2: 180,150,201	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,170,774	D38V	possibly damaging	Het
Prtg	C	T	9: 72,890,840	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,863,424	V748G	possibly damaging	Het
Reg2	A	T	6: 78,406,154	D28V	probably benign	Het
Rhpn1	A	T	15: 75,704,397	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,399,973	E294G	possibly damaging	Het
Scara3	T	A	14: 65,931,416	I251L	probably benign	Het
Slc23a2	G	A	2: 132,089,123	T152I	probably damaging	Het
Slc39a2	T	G	14: 51,894,193	S74A	possibly damaging	Het
Tpp2	T	C	1: 43,978,778	L779S	probably damaging	Het
Tssk2	T	C	16: 17,899,363	V210A	possibly damaging	Het
Ttn	T	A	2: 76,895,593	T6100S	unknown	Het
Tufm	G	A	7: 126,489,587	E317K	possibly damaging	Het
Wdfy4	A	G	14: 33,047,314	S2219P		Het
Wtap	T	C	17: 12,980,946	N50S	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
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
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
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'- CACAGTTCCAGATGTTTCTCCATTAG -3'
(R):5'- AGAAATCTAGATCCAACCAGATGG -3'

Sequencing Primer
(F):5'- CTGTAAGAGTTCCCTAAAGCTGG -3'
(R):5'- AACCAGATGGACAGCAGTC -3'

Posted On

2019-09-13