Mutagenetix > Incidental Mutation

Incidental Mutation 'R9767:Tmprss15'

733350

Institutional Source

Beutler Lab

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

Prss7, enterokinase, enteropeptidase, A130097D21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78749896-78887985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78875977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 119 (V119D)

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: V119D

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

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: V119D

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: V119D

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

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: V119D

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: 99.8%
10x: 99.3%
20x: 98.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	T	3: 151,207,394 (GRCm39)	M314L	probably benign	Het
Ank3	T	C	10: 69,823,799 (GRCm39)	S41P	probably damaging	Het
Aox4	A	C	1: 58,274,357 (GRCm39)	N381T	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Bpifb6	G	A	2: 153,751,148 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,739,018 (GRCm39)	V2275A	probably benign	Het
Cntn4	G	A	6: 106,655,395 (GRCm39)	G831E	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dchs2	A	G	3: 83,212,206 (GRCm39)	I2002V	probably benign	Het
Dennd2a	G	A	6: 39,483,709 (GRCm39)	R384C	probably damaging	Het
Dock1	A	G	7: 134,342,796 (GRCm39)	T136A	possibly damaging	Het
Eif2s2	A	T	2: 154,730,125 (GRCm39)	D57E	probably benign	Het
Eml2	C	T	7: 18,920,083 (GRCm39)	T129I	probably benign	Het
Flad1	A	C	3: 89,310,718 (GRCm39)	I443S	probably benign	Het
Glis1	A	T	4: 107,491,794 (GRCm39)	T741S	probably benign	Het
Gpr156	A	G	16: 37,818,297 (GRCm39)	Y331C	probably damaging	Het
Lrwd1	C	T	5: 136,162,856 (GRCm39)	V122M	possibly damaging	Het
Ndufs2	G	T	1: 171,068,643 (GRCm39)	P89Q	probably damaging	Het
Nkx1-2	C	T	7: 132,199,402 (GRCm39)	V120I	probably benign	Het
Or2t35	C	T	14: 14,407,929 (GRCm38)	R234W	probably damaging	Het
Or7a41	T	C	10: 78,870,765 (GRCm39)	L45P	possibly damaging	Het
Pcdhga3	T	A	18: 37,808,096 (GRCm39)	I183N	probably benign	Het
Pkhd1	T	C	1: 20,484,636 (GRCm39)	D1973G	probably benign	Het
Ppp1r3a	A	G	6: 14,718,101 (GRCm39)	S938P	probably benign	Het
Prss27	G	T	17: 24,257,283 (GRCm39)	M1I	probably null	Het
Rai14	T	C	15: 10,610,127 (GRCm39)	T74A	probably benign	Het
Rcc2	C	T	4: 140,435,331 (GRCm39)	R117W	probably damaging	Het
Rpl31	T	A	1: 39,410,189 (GRCm39)	*130R	probably null	Het
Rplp0	T	C	5: 115,699,563 (GRCm39)	S213P	probably benign	Het
Sdcbp2	T	C	2: 151,429,057 (GRCm39)	I152T	probably damaging	Het
Senp3	T	C	11: 69,569,013 (GRCm39)	T383A	possibly damaging	Het
Sod2	C	A	17: 13,227,180 (GRCm39)	Q45K	probably benign	Het
Speg	A	T	1: 75,403,825 (GRCm39)	I2669F	possibly damaging	Het
Stat4	T	G	1: 52,141,653 (GRCm39)	F577V	probably damaging	Het
Tex9	C	A	9: 72,368,518 (GRCm39)	E377*	probably null	Het
Unc79	T	C	12: 103,079,234 (GRCm39)	S1800P	probably benign	Het
Vldlr	A	G	19: 27,212,274 (GRCm39)	D96G	probably damaging	Het
Vmn2r51	G	T	7: 9,839,407 (GRCm39)	N60K	probably benign	Het
Vps13b	A	G	15: 35,910,403 (GRCm39)	D3389G	probably damaging	Het
Vps13d	C	T	4: 144,879,306 (GRCm39)	E1506K		Het
Zfp1	A	G	8: 112,396,203 (GRCm39)	N75D	probably benign	Het

Other mutations in Tmprss15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Tmprss15	APN	16	78,782,882 (GRCm39)	missense	possibly damaging	0.87
IGL00477:Tmprss15	APN	16	78,818,301 (GRCm39)	missense	probably damaging	1.00
IGL01583:Tmprss15	APN	16	78,868,149 (GRCm39)	missense	probably benign
IGL01896:Tmprss15	APN	16	78,887,678 (GRCm39)	missense	probably benign	0.22
IGL02052:Tmprss15	APN	16	78,884,394 (GRCm39)	missense	probably damaging	1.00
IGL02374:Tmprss15	APN	16	78,832,056 (GRCm39)	missense	probably benign	0.00
IGL02505:Tmprss15	APN	16	78,784,629 (GRCm39)	missense	probably benign	0.00
IGL02632:Tmprss15	APN	16	78,782,790 (GRCm39)	missense	probably damaging	0.98
IGL02674:Tmprss15	APN	16	78,798,682 (GRCm39)	missense	possibly damaging	0.72
beached	UTSW	16	78,821,736 (GRCm39)	missense	possibly damaging	0.62
Cellulite	UTSW	16	78,754,259 (GRCm39)	missense	probably damaging	1.00
lolling	UTSW	16	78,800,298 (GRCm39)	missense	probably benign	0.26
miniature	UTSW	16	78,854,497 (GRCm39)	critical splice donor site	probably null
PIT1430001:Tmprss15	UTSW	16	78,821,640 (GRCm39)	critical splice donor site	probably null
R0106:Tmprss15	UTSW	16	78,800,277 (GRCm39)	missense	probably damaging	0.99
R0106:Tmprss15	UTSW	16	78,800,277 (GRCm39)	missense	probably damaging	0.99
R0195:Tmprss15	UTSW	16	78,831,222 (GRCm39)	missense	probably benign	0.05
R0335:Tmprss15	UTSW	16	78,821,630 (GRCm39)	splice site	probably benign
R0514:Tmprss15	UTSW	16	78,765,155 (GRCm39)	missense	probably benign	0.05
R0552:Tmprss15	UTSW	16	78,821,637 (GRCm39)	splice site	probably null
R0675:Tmprss15	UTSW	16	78,782,838 (GRCm39)	missense	probably damaging	0.98
R0739:Tmprss15	UTSW	16	78,821,736 (GRCm39)	missense	possibly damaging	0.62
R1435:Tmprss15	UTSW	16	78,818,342 (GRCm39)	missense	probably benign	0.03
R1446:Tmprss15	UTSW	16	78,875,846 (GRCm39)	missense	probably benign	0.01
R1572:Tmprss15	UTSW	16	78,887,717 (GRCm39)	missense	probably benign	0.00
R1708:Tmprss15	UTSW	16	78,850,958 (GRCm39)	missense	possibly damaging	0.95
R1893:Tmprss15	UTSW	16	78,868,306 (GRCm39)	missense	probably benign
R2403:Tmprss15	UTSW	16	78,854,578 (GRCm39)	missense	probably damaging	1.00
R2866:Tmprss15	UTSW	16	78,832,121 (GRCm39)	missense	possibly damaging	0.65
R2913:Tmprss15	UTSW	16	78,759,078 (GRCm39)	missense	probably benign	0.45
R2914:Tmprss15	UTSW	16	78,759,078 (GRCm39)	missense	probably benign	0.45
R3425:Tmprss15	UTSW	16	78,800,321 (GRCm39)	missense	possibly damaging	0.83
R3703:Tmprss15	UTSW	16	78,851,030 (GRCm39)	critical splice acceptor site	probably null
R3916:Tmprss15	UTSW	16	78,782,884 (GRCm39)	missense	probably damaging	1.00
R3950:Tmprss15	UTSW	16	78,870,074 (GRCm39)	missense	probably benign	0.04
R4332:Tmprss15	UTSW	16	78,831,222 (GRCm39)	missense	probably benign	0.15
R4392:Tmprss15	UTSW	16	78,821,326 (GRCm39)	missense	probably damaging	1.00
R4515:Tmprss15	UTSW	16	78,754,244 (GRCm39)	missense	probably benign	0.00
R4619:Tmprss15	UTSW	16	78,818,358 (GRCm39)	missense	probably damaging	1.00
R4620:Tmprss15	UTSW	16	78,818,358 (GRCm39)	missense	probably damaging	1.00
R4754:Tmprss15	UTSW	16	78,851,012 (GRCm39)	missense	probably damaging	0.98
R4853:Tmprss15	UTSW	16	78,757,479 (GRCm39)	missense	probably benign
R5159:Tmprss15	UTSW	16	78,800,298 (GRCm39)	missense	probably benign	0.26
R5441:Tmprss15	UTSW	16	78,868,335 (GRCm39)	critical splice acceptor site	probably null
R5824:Tmprss15	UTSW	16	78,831,201 (GRCm39)	missense	probably damaging	0.99
R5970:Tmprss15	UTSW	16	78,854,547 (GRCm39)	missense	probably benign	0.00
R6224:Tmprss15	UTSW	16	78,821,266 (GRCm39)	missense	probably benign	0.08
R6257:Tmprss15	UTSW	16	78,769,113 (GRCm39)	missense	probably damaging	1.00
R6313:Tmprss15	UTSW	16	78,759,058 (GRCm39)	missense	probably benign	0.16
R6368:Tmprss15	UTSW	16	78,802,945 (GRCm39)	splice site	probably null
R6525:Tmprss15	UTSW	16	78,800,266 (GRCm39)	missense	probably damaging	0.97
R6587:Tmprss15	UTSW	16	78,868,317 (GRCm39)	missense	probably benign
R6894:Tmprss15	UTSW	16	78,872,702 (GRCm39)	nonsense	probably null
R7018:Tmprss15	UTSW	16	78,821,741 (GRCm39)	missense	possibly damaging	0.78
R7180:Tmprss15	UTSW	16	78,764,886 (GRCm39)	missense	probably damaging	0.97
R7324:Tmprss15	UTSW	16	78,758,907 (GRCm39)	missense	probably damaging	1.00
R7337:Tmprss15	UTSW	16	78,868,164 (GRCm39)	missense	probably benign	0.01
R7558:Tmprss15	UTSW	16	78,800,302 (GRCm39)	missense	possibly damaging	0.55
R7732:Tmprss15	UTSW	16	78,800,308 (GRCm39)	missense	probably benign	0.11
R7792:Tmprss15	UTSW	16	78,800,275 (GRCm39)	missense	probably damaging	1.00
R7829:Tmprss15	UTSW	16	78,784,538 (GRCm39)	missense	probably benign	0.02
R7998:Tmprss15	UTSW	16	78,798,731 (GRCm39)	missense	possibly damaging	0.79
R8009:Tmprss15	UTSW	16	78,887,751 (GRCm39)	missense	probably damaging	0.96
R8145:Tmprss15	UTSW	16	78,757,473 (GRCm39)	missense	probably damaging	1.00
R8183:Tmprss15	UTSW	16	78,884,400 (GRCm39)	missense	probably benign	0.04
R8221:Tmprss15	UTSW	16	78,821,223 (GRCm39)	missense	probably damaging	0.99
R8294:Tmprss15	UTSW	16	78,868,176 (GRCm39)	missense	probably benign
R8537:Tmprss15	UTSW	16	78,884,403 (GRCm39)	missense	probably damaging	0.99
R8735:Tmprss15	UTSW	16	78,798,702 (GRCm39)	missense	possibly damaging	0.88
R8858:Tmprss15	UTSW	16	78,854,497 (GRCm39)	critical splice donor site	probably null
R8869:Tmprss15	UTSW	16	78,750,834 (GRCm39)	nonsense	probably null
R8884:Tmprss15	UTSW	16	78,821,657 (GRCm39)	missense	probably benign	0.00
R9014:Tmprss15	UTSW	16	78,872,691 (GRCm39)	missense	probably benign	0.04
R9075:Tmprss15	UTSW	16	78,754,259 (GRCm39)	missense	probably damaging	1.00
R9351:Tmprss15	UTSW	16	78,832,086 (GRCm39)	missense	probably damaging	1.00
R9393:Tmprss15	UTSW	16	78,754,211 (GRCm39)	missense	probably benign	0.01
R9747:Tmprss15	UTSW	16	78,884,400 (GRCm39)	missense	probably benign	0.04
R9783:Tmprss15	UTSW	16	78,887,890 (GRCm39)	start gained	probably benign
RF005:Tmprss15	UTSW	16	78,750,689 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGACGATTCTCCTGCCTC -3'
(R):5'- TCTTGTAAACCATGTTGCAGAGC -3'

Sequencing Primer
(F):5'- GCCTCACTCCTATGTTGCTAGAATC -3'
(R):5'- CAAGGGTTACAAGGTCTTCCATGC -3'

Posted On

2022-11-14