Mutagenetix > Incidental Mutation

Incidental Mutation 'R8294:Tmprss15'

638870

Institutional Source

Beutler Lab

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

Prss7, enterokinase, enteropeptidase, A130097D21Rik

MMRRC Submission

067784-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78749896-78887985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78868176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 211 (C211S)

Ref Sequence

ENSEMBL: ENSMUSP00000023566 (fasta)

Gene Model

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

AlphaFold

P97435

Predicted Effect

probably benign
Transcript: ENSMUST00000023566
AA Change: C211S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: C211S

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 benign
Transcript: ENSMUST00000060402

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857

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

Validation Efficiency

98% (42/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,897,217 (GRCm39)	V632A	possibly damaging	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Acat2	T	C	17: 13,175,243 (GRCm39)	I79V	probably benign	Het
Arid3a	A	T	10: 79,786,535 (GRCm39)		silent	Het
Cecr2	C	T	6: 120,710,747 (GRCm39)	A154V	probably damaging	Het
Cog3	A	C	14: 75,954,619 (GRCm39)	L650R	probably damaging	Het
Col12a1	A	T	9: 79,606,594 (GRCm39)	F610I	possibly damaging	Het
Col24a1	A	G	3: 145,186,844 (GRCm39)	D1215G	probably null	Het
Ctsh	C	G	9: 89,950,489 (GRCm39)	A219G	possibly damaging	Het
Dnah10	C	T	5: 124,859,410 (GRCm39)	L2126F	probably damaging	Het
Dock10	A	G	1: 80,488,079 (GRCm39)	V2028A	possibly damaging	Het
Ece1	T	C	4: 137,675,931 (GRCm39)	V435A	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
H4c1	A	G	13: 23,944,957 (GRCm39)	F62L	probably damaging	Het
Hk1	T	G	10: 62,131,624 (GRCm39)	I245L	probably benign	Het
Hyal6	A	C	6: 24,734,378 (GRCm39)	K104Q	possibly damaging	Het
Kalrn	T	C	16: 33,853,954 (GRCm39)	I2017V	probably benign	Het
Khdc4	C	T	3: 88,603,915 (GRCm39)	A244V	probably damaging	Het
Krt72	A	T	15: 101,694,472 (GRCm39)	L141Q	probably damaging	Het
Map3k4	C	A	17: 12,537,500 (GRCm39)	A6S	unknown	Het
Muc6	T	C	7: 141,217,263 (GRCm39)	Y2470C	possibly damaging	Het
Nrip1	A	G	16: 76,089,418 (GRCm39)	V713A	probably damaging	Het
Or10q1b	A	G	19: 13,683,010 (GRCm39)	D273G	probably benign	Het
Or11g26	A	G	14: 50,753,083 (GRCm39)	T141A	possibly damaging	Het
Or2ah1	T	A	2: 85,653,531 (GRCm39)	I72N	probably damaging	Het
Or6aa1	T	C	7: 86,044,487 (GRCm39)	Y73C	probably damaging	Het
Paip1	C	T	13: 119,587,300 (GRCm39)	T304I	possibly damaging	Het
Pde4dip	A	G	3: 97,674,694 (GRCm39)	L74P	probably damaging	Het
Prkch	T	A	12: 73,806,484 (GRCm39)	L577H	probably damaging	Het
Rp1	A	G	1: 4,416,220 (GRCm39)	S1631P	probably benign	Het
Rph3a	A	G	5: 121,099,429 (GRCm39)	F154S	probably damaging	Het
S1pr5	A	G	9: 21,156,300 (GRCm39)	V42A	possibly damaging	Het
Scaper	G	A	9: 55,517,280 (GRCm39)	L1052F	possibly damaging	Het
Slc44a2	G	T	9: 21,259,643 (GRCm39)	V597F	probably damaging	Het
Srsf1	T	A	11: 87,939,467 (GRCm39)	S116T	probably benign	Het
Ssh2	A	G	11: 77,345,027 (GRCm39)	D1004G	probably benign	Het
St3gal5	T	A	6: 72,074,816 (GRCm39)	D25E		Het
Syt17	A	T	7: 118,009,228 (GRCm39)	Y327N	probably damaging	Het
T	T	A	17: 8,653,364 (GRCm39)	M1K	probably null	Het
Tmem201	A	T	4: 149,815,554 (GRCm39)	I132N	possibly damaging	Het
Trim36	T	C	18: 46,331,588 (GRCm39)	D7G	probably benign	Het
Trip11	T	A	12: 101,811,160 (GRCm39)	K1863N	possibly damaging	Het
Vmn2r13	A	T	5: 109,322,978 (GRCm39)	S104T	probably benign	Het
Zfp977	T	C	7: 42,229,689 (GRCm39)	T279A	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
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'- GCTTTTGCATAATTTTGGCAATCAG -3'
(R):5'- TAGGATAAGCAACTCACACTGC -3'

Sequencing Primer
(F):5'- GCAATCAGTATAATGCTATAAAGGGG -3'
(R):5'- TCACACTGCAGCAATGACTTAC -3'

Posted On

2020-07-28