Mutagenetix > Incidental Mutation

Incidental Mutation 'R6257:Tmprss15'

506429

Institutional Source

Beutler Lab

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

A130097D21Rik, enterokinase, enteropeptidase, Prss7

MMRRC Submission

044374-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6257 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78953008-79091097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78972225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 769 (V769E)

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: V784E

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

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: V784E

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: V769E

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

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: V769E

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 35,961,182	N313K	probably benign	Het
Adamts2	T	C	11: 50,775,326	V383A	probably damaging	Het
Adamts6	A	T	13: 104,462,282	Q877L	probably benign	Het
Adgre4	C	T	17: 55,802,133	T380I	possibly damaging	Het
Aspm	A	G	1: 139,482,053		probably null	Het
Atg16l2	A	G	7: 101,301,895		probably null	Het
Bcl6b	C	T	11: 70,226,052	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,281,619		probably null	Het
Casp8ap2	A	G	4: 32,641,364	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Ccser1	A	G	6: 61,373,962	D501G	probably damaging	Het
Ccser1	A	G	6: 62,379,785	T736A	probably benign	Het
Cd164l2	T	A	4: 133,221,034	C19S	unknown	Het
Cdk15	G	A	1: 59,257,105		probably null	Het
Cebpz	T	C	17: 78,935,832	E131G	probably benign	Het
Ces1d	T	C	8: 93,166,397	D519G	probably benign	Het
Cftr	A	C	6: 18,282,501	T1067P	probably benign	Het
Chd1	T	G	17: 15,730,203		probably null	Het
Chil4	T	A	3: 106,204,096	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,481,330	S173T	probably damaging	Het
Cpd	A	T	11: 76,812,670	F456I	probably benign	Het
Cst8	C	A	2: 148,805,445	A125E	probably damaging	Het
Dars2	G	T	1: 161,041,828	P617Q	probably damaging	Het
Defb26	A	G	2: 152,507,940	V140A	unknown	Het
Dntt	T	G	19: 41,053,062	V395G	probably damaging	Het
Dock10	G	A	1: 80,503,696		probably benign	Het
Dscam	T	C	16: 96,673,714	N1216S	possibly damaging	Het
En1	A	T	1: 120,603,907	D292V	unknown	Het
Erbb4	A	T	1: 68,396,273	L155Q	probably damaging	Het
Erbin	T	C	13: 103,862,288	T197A	probably benign	Het
Fat2	A	G	11: 55,262,581	F3602L	probably benign	Het
Fuk	A	T	8: 110,890,545	C365S	probably benign	Het
Gm3443	A	T	19: 21,555,711	D13V	unknown	Het
Gm6401	T	C	14: 41,967,871	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,700,641	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
H2-T24	T	A	17: 36,014,682	T305S	probably benign	Het
Ksr2	A	T	5: 117,414,844	M6L	probably benign	Het
Lama2	A	G	10: 26,986,899	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,746,559	T123A	probably benign	Het
Lrp1b	T	A	2: 40,596,969		probably null	Het
Ltn1	G	A	16: 87,411,774	A812V	possibly damaging	Het
Maml2	C	T	9: 13,620,426	S312L	probably damaging	Het
Myo7b	T	A	18: 32,013,415	N106Y	probably damaging	Het
Nacc2	A	T	2: 26,060,408	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,694,177	I224T	probably damaging	Het
Nf1	A	T	11: 79,549,491	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,795,905		probably null	Het
Nup155	C	T	15: 8,150,798	R1120*	probably null	Het
Oas3	C	A	5: 120,761,135		probably benign	Het
Ocln	T	C	13: 100,539,509	I159V	probably benign	Het
Olfr315	T	A	11: 58,779,003	V292E	probably damaging	Het
Olfr406	T	C	11: 74,270,007	V206A	probably damaging	Het
Os9	A	C	10: 127,119,137	C181G	probably damaging	Het
Phldb1	C	T	9: 44,696,140	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,942,195	T208I	probably benign	Het
Plppr4	T	C	3: 117,322,579	Q485R	possibly damaging	Het
Prkcb	T	A	7: 122,568,163	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,640	N45K	probably damaging	Het
Rbl2	T	C	8: 91,115,678	L987P	probably damaging	Het
Runx1	T	A	16: 92,695,911		probably benign	Het
Sept4	C	A	11: 87,590,349	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,254,510	E400G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Sri	T	A	5: 8,059,596		probably null	Het
St3gal3	C	T	4: 118,107,678		probably benign	Het
Tfpt	A	T	7: 3,629,567	L3*	probably null	Het
Tgfb3	T	C	12: 86,077,841	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,988	C678*	probably null	Het
Tmbim1	A	G	1: 74,293,066	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,512,297		probably benign	Het
Trak1	C	T	9: 121,446,755	R175C	probably damaging	Het
Trak1	G	T	9: 121,367,224	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,390,168	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,649,835		probably null	Het
Ubr7	T	A	12: 102,765,840	C158*	probably null	Het
Vmn2r79	A	T	7: 87,002,570	L392F	probably benign	Het
Zfp536	T	A	7: 37,480,405	D925V	probably 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
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'- ACCCATATGTTTGTTGACATTACAC -3'
(R):5'- CAAACGTGTACTAAAGGCTTTCCC -3'

Sequencing Primer
(F):5'- GTGGCACTGACACATTAATGGCTC -3'
(R):5'- ATACAATAGATCCTGCCCAGTTTC -3'

Posted On

2018-03-15