Mutagenetix > Incidental Mutation

Incidental Mutation 'R5824:Tmprss15'

450088

Institutional Source

Beutler Lab

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

Prss7, enterokinase, enteropeptidase, A130097D21Rik

MMRRC Submission

043216-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5824 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78749896-78887985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78831201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 385 (F385I)

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: F400I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: F400I

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: F385I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: F385I

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: 99.6%
10x: 98.3%
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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	A	T	13: 59,613,913 (GRCm39)	H66Q	probably damaging	Het
Ap1g1	T	A	8: 110,565,544 (GRCm39)		probably null	Het
Ap4b1	A	T	3: 103,720,701 (GRCm39)	I124F	probably benign	Het
Arhgap10	A	T	8: 78,085,181 (GRCm39)	Y462*	probably null	Het
Btnl10	G	T	11: 58,814,266 (GRCm39)	M315I	probably benign	Het
Cep295	A	G	9: 15,236,952 (GRCm39)	V1994A	possibly damaging	Het
Cherp	G	A	8: 73,216,102 (GRCm39)		probably benign	Het
Ckap5	G	A	2: 91,389,481 (GRCm39)	A318T	probably benign	Het
Cma1	T	C	14: 56,179,182 (GRCm39)	K238E	possibly damaging	Het
Cspg4b	T	A	13: 113,505,154 (GRCm39)	H2094Q	probably damaging	Het
Ctif	T	C	18: 75,743,749 (GRCm39)	D141G	possibly damaging	Het
Ctnna1	T	C	18: 35,312,939 (GRCm39)	S264P	probably benign	Het
Dnah12	G	T	14: 26,492,475 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,313,967 (GRCm39)	T1928A	probably benign	Het
Etfdh	G	A	3: 79,517,252 (GRCm39)	P379L	probably damaging	Het
Gfra3	T	C	18: 34,844,264 (GRCm39)	N92S	probably damaging	Het
Gpr161	C	A	1: 165,138,560 (GRCm39)	T382K	possibly damaging	Het
Gspt2	T	C	X: 93,680,071 (GRCm39)	V70A	possibly damaging	Het
Hmcn1	A	G	1: 150,868,774 (GRCm39)	V10A	probably benign	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Kpna1	A	G	16: 35,840,575 (GRCm39)	D205G	possibly damaging	Het
Man2a2	T	G	7: 80,002,780 (GRCm39)	D1067A	probably benign	Het
Map3k4	G	A	17: 12,448,526 (GRCm39)	H1551Y	probably damaging	Het
Moxd1	A	T	10: 24,162,995 (GRCm39)	I486F	probably damaging	Het
Notch3	G	T	17: 32,372,835 (GRCm39)	R579S	possibly damaging	Het
Or2r3	C	A	6: 42,448,906 (GRCm39)	V69L	probably benign	Het
Or6c65	T	C	10: 129,604,250 (GRCm39)	V295A	probably damaging	Het
Or8b4	A	G	9: 37,830,861 (GRCm39)	T308A	probably benign	Het
Pira13	T	C	7: 3,827,753 (GRCm39)	T135A	probably damaging	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Reg3b	G	A	6: 78,349,104 (GRCm39)	V77I	possibly damaging	Het
Terb1	T	C	8: 105,212,079 (GRCm39)	T301A	probably benign	Het
Tmem260	G	A	14: 48,742,785 (GRCm39)	C540Y	probably damaging	Het
Trbv12-2	G	A	6: 41,095,774 (GRCm39)		probably benign	Het
Upk3bl	T	A	5: 136,089,133 (GRCm39)	Y196*	probably null	Het
Vmn1r199	A	T	13: 22,567,748 (GRCm39)	K304N	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
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'- TACTCTTACCATCACATCGGGG -3'
(R):5'- GTCATGCTTGAGACATATAGGTACC -3'

Sequencing Primer
(F):5'- TCTTACCATCACATCGGGGTAAAAAG -3'
(R):5'- AGCTGGATTGTTTTCTATGC -3'

Posted On

2016-12-20