Mutagenetix > Incidental Mutation

Incidental Mutation 'R2866:Tmprss15'

253284

Institutional Source

Beutler Lab

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

Prss7, enterokinase, enteropeptidase, A130097D21Rik

MMRRC Submission

040455-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78749896-78887985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78832121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 345 (D345V)

Ref Sequence

ENSEMBL: ENSMUSP00000023566 (fasta)

Gene Model

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

AlphaFold

P97435

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023566
AA Change: D345V

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: D345V

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

possibly damaging
Transcript: ENSMUST00000060402
AA Change: D330V

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: D330V

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: 98.6%
10x: 97.3%
20x: 95.2%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atmin	T	A	8: 117,683,112 (GRCm39)	D257E	probably benign	Het
Best1	T	C	19: 9,963,585 (GRCm39)	E532G	probably benign	Het
Cenpj	T	C	14: 56,789,637 (GRCm39)	H804R	probably benign	Het
Clec2g	T	C	6: 128,925,719 (GRCm39)	S43P	probably benign	Het
Col8a2	A	G	4: 126,204,992 (GRCm39)		probably benign	Het
Cpz	T	C	5: 35,659,705 (GRCm39)	K647E	probably benign	Het
Csmd2	T	C	4: 128,308,185 (GRCm39)		probably null	Het
Ctss	A	G	3: 95,452,717 (GRCm39)	K166R	probably benign	Het
Cyp2c23	T	C	19: 43,993,885 (GRCm39)	R494G	probably damaging	Het
Cyp2c68	A	G	19: 39,677,589 (GRCm39)	I467T	probably damaging	Het
Dcaf11	A	T	14: 55,803,202 (GRCm39)	T299S	possibly damaging	Het
Dennd1b	A	G	1: 139,098,019 (GRCm39)	S762G	possibly damaging	Het
Epb42	C	T	2: 120,856,402 (GRCm39)	A381T	possibly damaging	Het
Fhad1	A	G	4: 141,648,099 (GRCm39)	Y256H	probably benign	Het
Gfra1	C	T	19: 58,227,739 (GRCm39)	A395T	possibly damaging	Het
Gm10323	C	A	13: 67,002,574 (GRCm39)	C55F	probably benign	Het
Greb1	T	C	12: 16,749,551 (GRCm39)	S1092G	probably damaging	Het
Grid1	A	T	14: 35,284,516 (GRCm39)	D753V	probably damaging	Het
Grin2b	A	G	6: 135,710,637 (GRCm39)	F970L	probably damaging	Het
Kcnma1	A	T	14: 23,423,275 (GRCm39)	N682K	probably benign	Het
Lat2	T	A	5: 134,634,798 (GRCm39)	D114V	probably damaging	Het
Lcat	C	T	8: 106,666,511 (GRCm39)	C337Y	probably damaging	Het
Mapk10	C	T	5: 103,186,548 (GRCm39)	D25N	probably benign	Het
Mroh7	C	T	4: 106,548,287 (GRCm39)	G1064R	probably damaging	Het
Muc21	T	C	17: 35,930,599 (GRCm39)		probably benign	Het
Or10h5	T	A	17: 33,435,252 (GRCm39)	H22L	probably benign	Het
Or51ah3	A	T	7: 103,210,064 (GRCm39)	I127F	probably damaging	Het
Or5p5	T	A	7: 107,414,126 (GRCm39)	C112S	probably benign	Het
Or8k39	A	T	2: 86,563,773 (GRCm39)	F61Y	possibly damaging	Het
Polr1has	A	T	17: 37,276,052 (GRCm39)	R211S	possibly damaging	Het
Psg27	T	A	7: 18,295,818 (GRCm39)	D209V	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Pzp	A	G	6: 128,502,227 (GRCm39)	S41P	possibly damaging	Het
Rab23	A	T	1: 33,777,376 (GRCm39)	K163N	possibly damaging	Het
Rilpl2	T	C	5: 124,615,898 (GRCm39)	D84G	probably damaging	Het
Sorl1	A	G	9: 41,881,077 (GRCm39)	I2148T	probably benign	Het
Tead1	A	G	7: 112,358,694 (GRCm39)	E2G	probably damaging	Het
Tigd4	A	G	3: 84,501,259 (GRCm39)	N59D	possibly damaging	Het
Togaram2	T	C	17: 72,016,592 (GRCm39)	S649P	probably benign	Het
Ucp2	T	C	7: 100,146,459 (GRCm39)	V95A	probably benign	Het
Usp17lb	T	C	7: 104,489,955 (GRCm39)	D323G	probably damaging	Het
Zfp677	A	T	17: 21,617,518 (GRCm39)	K192*	probably null	Het
Zmym2	T	A	14: 57,165,705 (GRCm39)	I676K	probably damaging	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
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
R9767:Tmprss15	UTSW	16	78,875,977 (GRCm39)	missense	probably damaging	1.00
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'- GCTGATAAAGATACTGCAGTAACCAG -3'
(R):5'- CTTTGGTACTATGACGCTACTCTAG -3'

Sequencing Primer
(F):5'- TACTGCAGTAACCAGAGAGTCAGC -3'
(R):5'- GCTCTCATTGCTATGATATGGGACAC -3'

Posted On

2014-12-04