Mutagenetix > Incidental Mutation

Incidental Mutation 'R9315:Tmprss3'

705860

Institutional Source

Beutler Lab

Gene Symbol

Tmprss3

Ensembl Gene

ENSMUSG00000024034

Gene Name

transmembrane protease, serine 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31398239-31417951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31403644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 386 (I386V)

Ref Sequence

ENSEMBL: ENSMUSP00000110196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024833] [ENSMUST00000114549]

AlphaFold

Q8K1T0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024833
AA Change: I364V

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034
AA Change: I364V

Domain	Start	End	E-Value	Type
transmembrane domain	49	71	N/A	INTRINSIC
LDLa	72	109	1.76e-5	SMART
SR	108	205	3.99e-4	SMART
Tryp_SPc	216	443	5.22e-96	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114549
AA Change: I386V

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034
AA Change: I386V

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
LDLa	94	131	1.76e-5	SMART
SR	130	227	3.99e-4	SMART
Tryp_SPc	238	465	5.22e-96	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

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. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit early onset deafness and disrupted vestibular function associated with hair cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	T	11: 94,265,576 (GRCm39)	R153H	possibly damaging	Het
Ankrd17	G	A	5: 90,398,360 (GRCm39)	S1730L	probably damaging	Het
Ano3	T	C	2: 110,528,287 (GRCm39)	E509G	probably damaging	Het
Cacna2d4	G	T	6: 119,213,670 (GRCm39)	A30S	probably benign	Het
Clec4e	A	G	6: 123,263,214 (GRCm39)	S109P	probably damaging	Het
Coa7	T	A	4: 108,195,581 (GRCm39)	L170Q	probably benign	Het
Col1a2	T	A	6: 4,540,544 (GRCm39)	I1334N	unknown	Het
Col6a3	A	G	1: 90,738,979 (GRCm39)		probably null	Het
Cyp2j6	A	G	4: 96,420,035 (GRCm39)	I232T	probably benign	Het
Ddx52	T	A	11: 83,837,033 (GRCm39)	S175T	probably benign	Het
Dnah11	G	A	12: 118,143,341 (GRCm39)	S434F	probably benign	Het
Epn1	T	C	7: 5,096,339 (GRCm39)	V211A	probably benign	Het
Fads2b	C	A	2: 85,319,188 (GRCm39)	K371N	probably benign	Het
Glb1	A	G	9: 114,285,548 (GRCm39)	N429S	probably benign	Het
Ifng	A	T	10: 118,278,588 (GRCm39)	D83V	probably damaging	Het
Ints4	A	G	7: 97,156,840 (GRCm39)		probably benign	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Ldlr	T	A	9: 21,644,782 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,760,911 (GRCm39)	V4992A	probably benign	Het
Mrc1	T	A	2: 14,248,969 (GRCm39)	C168*	probably null	Het
Msantd5f3	A	T	4: 73,575,280 (GRCm39)	R320*	probably null	Het
Mug1	T	A	6: 121,850,730 (GRCm39)	V742D	possibly damaging	Het
Mxd1	T	C	6: 86,627,926 (GRCm39)	D204G	probably damaging	Het
Myo9b	C	A	8: 71,801,811 (GRCm39)	A1322D	possibly damaging	Het
Nepn	T	A	10: 52,267,869 (GRCm39)	I45N	probably benign	Het
Or13a22	T	C	7: 140,072,935 (GRCm39)	I128T	probably damaging	Het
Or14c46	A	T	7: 85,918,495 (GRCm39)	C167*	probably null	Het
Or4d5	T	C	9: 40,012,270 (GRCm39)	D172G	probably benign	Het
Paip1	A	G	13: 119,586,516 (GRCm39)	E271G	probably benign	Het
Pcnx2	T	C	8: 126,614,119 (GRCm39)	N444S	probably benign	Het
Pdcd6ip	T	C	9: 113,488,921 (GRCm39)	T705A	possibly damaging	Het
Pik3r1	A	G	13: 101,894,166 (GRCm39)	M1T	probably null	Het
Rab33b	T	G	3: 51,401,000 (GRCm39)	V158G	probably damaging	Het
Rab6a	A	G	7: 100,281,017 (GRCm39)	I120V	probably benign	Het
Radil	G	T	5: 142,474,254 (GRCm39)	H731N	probably damaging	Het
Rbm4b	T	C	19: 4,812,028 (GRCm39)	S146P	probably damaging	Het
Rrn3	T	C	16: 13,606,690 (GRCm39)	Y99H	probably benign	Het
Saxo4	T	A	19: 10,458,767 (GRCm39)	S88C	probably damaging	Het
Syne1	G	T	10: 5,283,553 (GRCm39)	T1504K	possibly damaging	Het
Tas1r2	A	G	4: 139,381,046 (GRCm39)	Y56C	possibly damaging	Het
Tns1	A	G	1: 73,980,141 (GRCm39)	C11R		Het
Wdr11	A	G	7: 129,208,264 (GRCm39)	T340A	probably benign	Het
Zbtb49	A	G	5: 38,358,082 (GRCm39)	S724P	probably benign	Het
Zfp446	A	G	7: 12,713,397 (GRCm39)	K221R	probably benign	Het

Other mutations in Tmprss3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Tmprss3	APN	17	31,413,982 (GRCm39)	missense	probably damaging	0.97
IGL01836:Tmprss3	APN	17	31,410,018 (GRCm39)	missense	probably benign
IGL02525:Tmprss3	APN	17	31,413,865 (GRCm39)	splice site	probably benign
IGL02672:Tmprss3	APN	17	31,409,981 (GRCm39)	missense	probably damaging	1.00
IGL02900:Tmprss3	APN	17	31,403,553 (GRCm39)	missense	probably damaging	1.00
R0122:Tmprss3	UTSW	17	31,412,876 (GRCm39)	splice site	probably benign
R0617:Tmprss3	UTSW	17	31,412,886 (GRCm39)	missense	probably damaging	1.00
R4001:Tmprss3	UTSW	17	31,405,533 (GRCm39)	missense	probably damaging	1.00
R5587:Tmprss3	UTSW	17	31,412,966 (GRCm39)	missense	probably benign	0.00
R6077:Tmprss3	UTSW	17	31,408,141 (GRCm39)	missense	possibly damaging	0.94
R6271:Tmprss3	UTSW	17	31,405,536 (GRCm39)	missense	probably damaging	1.00
R6329:Tmprss3	UTSW	17	31,402,833 (GRCm39)	nonsense	probably null
R6918:Tmprss3	UTSW	17	31,407,331 (GRCm39)	missense	probably benign	0.19
R8279:Tmprss3	UTSW	17	31,416,709 (GRCm39)	missense	probably benign	0.20
R8372:Tmprss3	UTSW	17	31,403,671 (GRCm39)	missense	probably benign	0.00
R8427:Tmprss3	UTSW	17	31,407,358 (GRCm39)	missense	probably damaging	0.99
R8443:Tmprss3	UTSW	17	31,413,976 (GRCm39)	missense	possibly damaging	0.81
R9041:Tmprss3	UTSW	17	31,410,014 (GRCm39)	missense	probably benign	0.02
R9388:Tmprss3	UTSW	17	31,410,041 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCAAATCTCTTCCTTGTGCC -3'
(R):5'- TACAGTAGACCTGGTCTTTGC -3'

Sequencing Primer
(F):5'- TTTCACGGGGAAACTGGC -3'
(R):5'- AGACCTGGTCTTTGCTGTGAC -3'

Posted On

2022-03-25