Mutagenetix > Incidental Mutation

Incidental Mutation 'R0207:Tmprss5'

33404

Institutional Source

Beutler Lab

Gene Symbol

Tmprss5

Ensembl Gene

ENSMUSG00000032268

Gene Name

transmembrane protease, serine 5 (spinesin)

Synonyms

spinesin

MMRRC Submission

038460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49081260-49117587 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49113160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 274 (H274Q)

Ref Sequence

ENSEMBL: ENSMUSP00000132181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070390] [ENSMUST00000165088] [ENSMUST00000166272] [ENSMUST00000167095] [ENSMUST00000170246]

AlphaFold

Q9ER04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070390
AA Change: H264Q

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268
AA Change: H264Q

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
Pfam:SRCR_2	106	203	4.2e-38	PFAM
Tryp_SPc	207	438	1.28e-90	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165088
AA Change: H274Q

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
AA Change: H274Q

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:SRCR_2	116	213	2.9e-38	PFAM
Tryp_SPc	217	448	1.28e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166272

SMART Domains

Protein: ENSMUSP00000130069
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167095
AA Change: H200Q

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268
AA Change: H200Q

Domain	Start	End	E-Value	Type
Pfam:SRCR_2	42	139	1.1e-38	PFAM
Tryp_SPc	143	374	1.28e-90	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170246
AA Change: H258Q

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268
AA Change: H258Q

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
Pfam:SRCR_2	100	197	1.4e-38	PFAM
Tryp_SPc	201	432	1.28e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170426

SMART Domains

Protein: ENSMUSP00000128662
Gene: ENSMUSG00000032268

Domain	Start	End	E-Value	Type
Pfam:SRCR_2	7	84	3.4e-28	PFAM

Meta Mutation Damage Score

0.2031

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.5%

Validation Efficiency

95% (76/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,086,039	F488S	probably damaging	Het
Acap3	C	T	4: 155,899,424	R116W	probably damaging	Het
Adamts10	C	A	17: 33,545,390	P663T	possibly damaging	Het
Akap12	G	A	10: 4,353,333	G48S	probably damaging	Het
Ankrd7	T	A	6: 18,870,031	M261K	probably benign	Het
Ankzf1	C	A	1: 75,198,304	D599E	possibly damaging	Het
Aox1	T	C	1: 58,105,014	I1278T	possibly damaging	Het
Apcdd1	T	C	18: 62,950,079	Y327H	probably benign	Het
Asxl3	T	A	18: 22,411,496		probably benign	Het
Birc6	C	A	17: 74,662,832		probably benign	Het
Btaf1	T	A	19: 37,009,648	L1714*	probably null	Het
Cacng6	T	A	7: 3,425,004		probably benign	Het
Cdc20b	A	G	13: 113,078,612	D238G	probably damaging	Het
Celf5	T	A	10: 81,470,698	R113W	probably null	Het
Cfap70	C	A	14: 20,412,347	E659D	probably damaging	Het
Clspn	T	A	4: 126,590,598	M1183K	possibly damaging	Het
Dpy19l1	G	A	9: 24,453,891	R275C	probably damaging	Het
Dst	C	T	1: 34,186,935	S1721L	probably benign	Het
Faap100	T	C	11: 120,374,365	T562A	probably damaging	Het
Fam168b	T	C	1: 34,819,688	M133V	probably damaging	Het
Farp2	T	C	1: 93,569,087	I172T	probably damaging	Het
Fer	T	G	17: 63,896,278	S68A	probably damaging	Het
Fmo5	A	G	3: 97,645,681	E315G	probably damaging	Het
Gpr89	A	T	3: 96,871,480	F426I	probably damaging	Het
Hinfp	T	C	9: 44,296,327	I461V	possibly damaging	Het
Hsd11b1	A	T	1: 193,240,248	V167D	probably damaging	Het
Htt	A	G	5: 34,896,908	K2574E	probably benign	Het
I830077J02Rik	A	G	3: 105,926,505	S112P	probably benign	Het
Igf2bp3	T	A	6: 49,105,617	M344L	probably benign	Het
Itch	A	T	2: 155,202,257	Q494L	probably benign	Het
Itga9	T	C	9: 118,769,253		probably benign	Het
Jaml	T	A	9: 45,093,767	D152E	probably benign	Het
Kif22	A	C	7: 127,042,400	M1R	probably null	Het
Kifap3	T	C	1: 163,883,386	Y663H	probably benign	Het
Letm2	T	A	8: 25,578,770	N472I	probably damaging	Het
Mthfr	T	G	4: 148,052,224	V446G	probably damaging	Het
Myh11	T	C	16: 14,211,260	E1206G	possibly damaging	Het
Myo6	G	A	9: 80,288,056	V903I	probably damaging	Het
Myo9b	C	T	8: 71,355,225		probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Nsd3	A	G	8: 25,683,257	N859S	probably benign	Het
Nucb2	C	A	7: 116,536,010	A384E	probably damaging	Het
Ogdhl	C	A	14: 32,342,037		probably null	Het
Olfr119	C	A	17: 37,701,058	C129*	probably null	Het
Olfr1247	G	A	2: 89,609,863	L80F	probably damaging	Het
Olfr1357	T	C	10: 78,611,871	T257A	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr381	A	T	11: 73,486,575	L83Q	probably benign	Het
Parp10	C	T	15: 76,242,633	S145N	probably benign	Het
Pigh	A	G	12: 79,083,709		probably benign	Het
Pigo	A	G	4: 43,023,824		probably benign	Het
Pkp4	T	A	2: 59,305,488	V199D	possibly damaging	Het
Polr1e	C	A	4: 45,025,143		probably null	Het
Ppfia3	C	A	7: 45,348,534	R723L	probably damaging	Het
Prex1	C	A	2: 166,585,898	A945S	possibly damaging	Het
Prrt3	A	T	6: 113,495,840	V457E	probably damaging	Het
Rab39	A	G	9: 53,705,971	F49L	possibly damaging	Het
Rrs1	C	A	1: 9,545,762		probably null	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Serpinb3c	T	C	1: 107,276,992	D8G	probably benign	Het
Slc17a6	A	G	7: 51,646,180		probably benign	Het
Slc24a4	T	A	12: 102,228,951		probably null	Het
Smc1b	C	T	15: 85,123,759	M272I	probably benign	Het
Smc6	T	C	12: 11,283,178		probably benign	Het
Tcf20	T	C	15: 82,855,085	T722A	probably benign	Het
Tesmin	A	T	19: 3,404,088	M141L	probably benign	Het
Tns1	C	T	1: 73,937,318		probably null	Het
Tpr	T	C	1: 150,417,427	S868P	possibly damaging	Het
Trank1	C	T	9: 111,366,253	T1115I	probably damaging	Het
Trmt44	A	T	5: 35,572,917	I203K	possibly damaging	Het
Ulk2	A	T	11: 61,777,785	V1037E	probably benign	Het
Usp43	A	G	11: 67,876,499	Y682H	probably damaging	Het
Vipr2	A	T	12: 116,142,882	Q366L	probably damaging	Het
Vmn1r185	C	A	7: 26,611,589	V164L	possibly damaging	Het
Vmn2r120	C	T	17: 57,525,052	V246I	probably benign	Het
Wdr66	T	C	5: 123,283,447	V182A	probably damaging	Het
Wiz	C	T	17: 32,357,033	G790R	probably damaging	Het
Wnk1	A	T	6: 119,952,733	S1016R	probably damaging	Het
Zc3hav1	A	G	6: 38,311,174	L909S	probably benign	Het
Zfp236	T	A	18: 82,640,227	I637F	probably damaging	Het
Zfp788	G	A	7: 41,649,596	G532D	probably damaging	Het
Zranb1	T	C	7: 132,950,385	I255T	probably damaging	Het

Other mutations in Tmprss5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Tmprss5	APN	9	49109457	makesense	probably null
IGL02705:Tmprss5	APN	9	49107147	missense	probably benign	0.19
IGL03072:Tmprss5	APN	9	49109018	missense	possibly damaging	0.68
IGL03107:Tmprss5	APN	9	49113228	missense	possibly damaging	0.78
PIT4366001:Tmprss5	UTSW	9	49112217	missense	probably benign	0.24
R0477:Tmprss5	UTSW	9	49115165	missense	possibly damaging	0.94
R1542:Tmprss5	UTSW	9	49109134	missense	possibly damaging	0.81
R1819:Tmprss5	UTSW	9	49107164	missense	probably benign	0.09
R2395:Tmprss5	UTSW	9	49115135	nonsense	probably null
R4600:Tmprss5	UTSW	9	49113248	missense	possibly damaging	0.67
R4967:Tmprss5	UTSW	9	49115517	missense	probably damaging	0.98
R5819:Tmprss5	UTSW	9	49114479	splice site	probably null
R7266:Tmprss5	UTSW	9	49114541	missense	probably benign
R7876:Tmprss5	UTSW	9	49109091	missense	probably benign	0.10
R8354:Tmprss5	UTSW	9	49107139	missense	possibly damaging	0.74
R8995:Tmprss5	UTSW	9	49114594	critical splice donor site	probably null
Z1177:Tmprss5	UTSW	9	49115155	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACAAAGACTGGTTCCTTATGTTCCC -3'
(R):5'- CCTCACCTGAGAAGTTGATTGGTGTCC -3'

Sequencing Primer
(F):5'- gtcgtccagcacactcc -3'
(R):5'- ATAGTTCCCTGGTGTTGTCG -3'

Posted On

2013-05-09