Mutagenetix > Incidental Mutation

Incidental Mutation 'R1296:Tmprss9'

158138

Institutional Source

Beutler Lab

Gene Symbol

Tmprss9

Ensembl Gene

ENSMUSG00000059406

Gene Name

transmembrane protease, serine 9

Synonyms

Serase-1B

MMRRC Submission

039362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1296 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

80707682-80735326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80726279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 510 (A510S)

Ref Sequence

ENSEMBL: ENSMUSP00000152034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105333] [ENSMUST00000219817]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000105333
AA Change: A510S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406
AA Change: A510S

Domain	Start	End	E-Value	Type
Pfam:SEA	62	155	1.7e-10	PFAM
LDLa	189	227	1.15e-4	SMART
Tryp_SPc	238	467	2.43e-96	SMART
low complexity region	477	502	N/A	INTRINSIC
Tryp_SPc	539	767	7.28e-86	SMART
Tryp_SPc	867	1093	1.62e-92	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219742

Predicted Effect

probably benign
Transcript: ENSMUST00000219817
AA Change: A510S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.5%
20x: 87.1%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 56,324,754 (GRCm39)	Q567*	probably null	Het
Apol11a	T	C	15: 77,395,219 (GRCm39)		probably benign	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Atp8a1	A	T	5: 67,780,049 (GRCm39)		probably benign	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Cntn4	G	T	6: 106,486,363 (GRCm39)	G264C	probably damaging	Het
Col6a4	A	G	9: 105,940,052 (GRCm39)	S1293P	possibly damaging	Het
Col6a6	T	C	9: 105,658,290 (GRCm39)	K641E	probably damaging	Het
Dmd	A	T	X: 82,922,126 (GRCm39)	K1465N	probably damaging	Het
Dus2	T	C	8: 106,779,675 (GRCm39)	V403A	possibly damaging	Het
Frs2	C	T	10: 116,916,979 (GRCm39)	C5Y	probably benign	Het
Gm5174	A	G	10: 86,492,866 (GRCm39)		noncoding transcript	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ints6	T	C	14: 62,942,352 (GRCm39)		probably benign	Het
Ints8	T	C	4: 11,221,204 (GRCm39)	I724V	possibly damaging	Het
Lrrk2	G	A	15: 91,613,123 (GRCm39)	C749Y	probably damaging	Het
Map4k1	A	G	7: 28,697,877 (GRCm39)	D471G	possibly damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mrfap1	A	G	5: 36,953,817 (GRCm39)	S41P	possibly damaging	Het
Mrm2	T	C	5: 140,314,308 (GRCm39)	T176A	probably benign	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nfyb	A	G	10: 82,586,665 (GRCm39)		probably benign	Het
Nlgn3	T	C	X: 100,352,522 (GRCm39)		probably benign	Het
Nr3c1	G	A	18: 39,620,051 (GRCm39)	Q79*	probably null	Het
Nxpe4	C	G	9: 48,307,793 (GRCm39)	T299R	probably benign	Het
Otud4	C	A	8: 80,400,603 (GRCm39)	H1105N	unknown	Het
Pcnx2	A	G	8: 126,500,572 (GRCm39)	L1506P	probably damaging	Het
Prl2c5	T	A	13: 13,364,009 (GRCm39)	H88Q	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rbl1	A	T	2: 157,011,891 (GRCm39)	V688D	probably benign	Het
Rhox2g	C	A	X: 36,824,865 (GRCm39)		probably benign	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Ryr2	T	C	13: 11,702,765 (GRCm39)		probably benign	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Siglecf	A	T	7: 43,005,344 (GRCm39)	R435*	probably null	Het
Slc23a1	C	T	18: 35,755,676 (GRCm39)	V407M	possibly damaging	Het
Slc6a14	G	A	X: 21,587,807 (GRCm39)	V122I	probably benign	Het
Spdl1	T	A	11: 34,704,434 (GRCm39)	E466D	unknown	Het
Stau2	A	G	1: 16,510,596 (GRCm39)	F121L	probably benign	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tap2	G	T	17: 34,430,889 (GRCm39)	V330L	probably benign	Het
Tbc1d1	T	C	5: 64,421,775 (GRCm39)	L389P	probably damaging	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Tnxb	G	A	17: 34,890,551 (GRCm39)	C298Y	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Ugt2a3	A	T	5: 87,475,005 (GRCm39)	L413Q	probably damaging	Het
Vcan	A	G	13: 89,805,675 (GRCm39)	I2335T	probably damaging	Het
Vmn2r28	T	C	7: 5,484,544 (GRCm39)	N552S	possibly damaging	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zng1	A	T	19: 24,920,039 (GRCm39)		probably benign	Het
Zpld1	T	C	16: 55,068,697 (GRCm39)	D138G	probably damaging	Het

Other mutations in Tmprss9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Tmprss9	APN	10	80,730,262 (GRCm39)	critical splice donor site	probably null
IGL00990:Tmprss9	APN	10	80,728,126 (GRCm39)	missense	possibly damaging	0.92
IGL01710:Tmprss9	APN	10	80,733,793 (GRCm39)	unclassified	probably benign
IGL03075:Tmprss9	APN	10	80,719,863 (GRCm39)	missense	possibly damaging	0.77
IGL03132:Tmprss9	APN	10	80,730,699 (GRCm39)	missense	probably damaging	0.98
R0142:Tmprss9	UTSW	10	80,730,212 (GRCm39)	missense	possibly damaging	0.92
R0546:Tmprss9	UTSW	10	80,735,157 (GRCm39)	missense	probably benign	0.00
R1171:Tmprss9	UTSW	10	80,715,692 (GRCm39)	missense	possibly damaging	0.92
R1302:Tmprss9	UTSW	10	80,730,963 (GRCm39)	missense	probably benign	0.00
R1498:Tmprss9	UTSW	10	80,730,934 (GRCm39)	missense	probably benign	0.01
R1706:Tmprss9	UTSW	10	80,734,021 (GRCm39)	unclassified	probably benign
R1851:Tmprss9	UTSW	10	80,728,119 (GRCm39)	missense	probably damaging	0.98
R2096:Tmprss9	UTSW	10	80,725,268 (GRCm39)	missense	probably damaging	1.00
R2198:Tmprss9	UTSW	10	80,723,293 (GRCm39)	missense	probably damaging	1.00
R3783:Tmprss9	UTSW	10	80,723,301 (GRCm39)	missense	probably damaging	1.00
R5682:Tmprss9	UTSW	10	80,733,207 (GRCm39)	splice site	probably null
R5868:Tmprss9	UTSW	10	80,718,580 (GRCm39)	missense	probably benign	0.03
R6006:Tmprss9	UTSW	10	80,719,555 (GRCm39)	missense	possibly damaging	0.92
R6542:Tmprss9	UTSW	10	80,724,389 (GRCm39)	missense	probably damaging	1.00
R6676:Tmprss9	UTSW	10	80,734,145 (GRCm39)	unclassified	probably benign
R6718:Tmprss9	UTSW	10	80,726,198 (GRCm39)	missense	probably benign
R7062:Tmprss9	UTSW	10	80,730,883 (GRCm39)	missense	probably benign	0.00
R7316:Tmprss9	UTSW	10	80,730,813 (GRCm39)	missense	probably benign	0.00
R7337:Tmprss9	UTSW	10	80,718,504 (GRCm39)	missense	probably benign	0.00
R7624:Tmprss9	UTSW	10	80,728,053 (GRCm39)	missense	possibly damaging	0.77
R7659:Tmprss9	UTSW	10	80,728,843 (GRCm39)	missense	probably damaging	0.97
R7770:Tmprss9	UTSW	10	80,733,903 (GRCm39)	splice site	probably null
R7810:Tmprss9	UTSW	10	80,733,145 (GRCm39)	missense	unknown
R8177:Tmprss9	UTSW	10	80,730,882 (GRCm39)	missense	probably benign	0.00
R8324:Tmprss9	UTSW	10	80,733,205 (GRCm39)	critical splice donor site	probably null
R8354:Tmprss9	UTSW	10	80,723,320 (GRCm39)	missense	probably benign	0.04
R8454:Tmprss9	UTSW	10	80,723,320 (GRCm39)	missense	probably benign	0.04
R8456:Tmprss9	UTSW	10	80,730,251 (GRCm39)	missense	possibly damaging	0.92
R8729:Tmprss9	UTSW	10	80,726,177 (GRCm39)	missense	probably benign	0.01
R8968:Tmprss9	UTSW	10	80,730,163 (GRCm39)	missense	possibly damaging	0.71
R9010:Tmprss9	UTSW	10	80,733,701 (GRCm39)	missense	unknown
R9336:Tmprss9	UTSW	10	80,730,787 (GRCm39)	missense	probably benign	0.02
R9529:Tmprss9	UTSW	10	80,730,640 (GRCm39)	missense	probably damaging	0.99
R9786:Tmprss9	UTSW	10	80,734,042 (GRCm39)	missense	unknown
R9789:Tmprss9	UTSW	10	80,730,993 (GRCm39)	missense	probably benign	0.00
X0062:Tmprss9	UTSW	10	80,719,772 (GRCm39)	splice site	probably null
X0066:Tmprss9	UTSW	10	80,729,064 (GRCm39)	missense	probably damaging	0.99
Z1176:Tmprss9	UTSW	10	80,724,256 (GRCm39)	missense	probably damaging	0.98
Z1177:Tmprss9	UTSW	10	80,723,356 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGAGAGAGTGCCTTTGTTTTCC -3'
(R):5'- TTTCCACCGAGTGCTTCGTGAC -3'

Sequencing Primer
(F):5'- TTTTCCAGGGGGACTCCG -3'
(R):5'- TTCGTGACAGACCTCAGTAATCG -3'

Posted On

2014-02-18