Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Prss16'

165128

Institutional Source

Beutler Lab

Gene Symbol

Prss16

Ensembl Gene

ENSMUSG00000006179

Gene Name

protease, serine 16 (thymus)

Synonyms

TSSP

MMRRC Submission

039219-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22002173-22009742 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 22006968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006341] [ENSMUST00000150547]

AlphaFold

Q9QXE5

Predicted Effect

probably benign
Transcript: ENSMUST00000006341

SMART Domains

Protein: ENSMUSP00000006341
Gene: ENSMUSG00000006179

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	40	53	N/A	INTRINSIC
Pfam:Peptidase_S28	63	493	1.9e-157	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130585

Predicted Effect

probably benign
Transcript: ENSMUST00000150547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223857

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable with no gross abnormalities and normal T cell development and activation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,531,676	V1848E	probably damaging	Het
Alpk3	A	G	7: 81,077,595	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,740,008	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,364,971		probably benign	Het
Ctsj	G	A	13: 61,002,498	P230L	probably benign	Het
Dync1i2	C	T	2: 71,227,820		probably benign	Het
Eme1	A	G	11: 94,645,451	L564P	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Frg1	A	G	8: 41,411,217		probably benign	Het
Fzd2	A	T	11: 102,605,380	S217C	possibly damaging	Het
Gaa	G	T	11: 119,274,904	R81L	probably damaging	Het
Gfral	A	G	9: 76,167,059	V368A	probably benign	Het
Gm10774	T	C	2: 126,709,472	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830	N545K	probably damaging	Het
Herc2	T	C	7: 56,146,696	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231	I53T	probably benign	Het
Iqub	G	A	6: 24,505,628	L94F	possibly damaging	Het
Kpna1	C	T	16: 36,033,379	R460*	probably null	Het
Masp1	T	C	16: 23,492,115	E189G	probably damaging	Het
Mogat1	A	G	1: 78,523,613	I105V	probably benign	Het
Mpi	A	G	9: 57,545,189		probably benign	Het
Msh2	C	A	17: 87,680,060	D209E	probably benign	Het
Nsf	G	A	11: 103,828,538	T646I	probably damaging	Het
Olfr1257	C	T	2: 89,881,206	P127S	probably damaging	Het
Olfr1416	G	A	1: 92,479,890	H244Y	probably damaging	Het
Olfr1449	T	A	19: 12,934,965	S76T	possibly damaging	Het
Olfr980	A	T	9: 40,006,094	V285D	possibly damaging	Het
Otogl	T	A	10: 107,886,513	I327F	probably damaging	Het
Pappa2	T	C	1: 158,854,982	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512		probably benign	Het
Pfkfb4	A	G	9: 109,007,726	E163G	probably benign	Het
Phc1	T	C	6: 122,323,457		probably benign	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Ppfia3	A	C	7: 45,352,215	D424E	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,201,730		probably null	Het
Rexo1	C	T	10: 80,544,405	S919N	probably benign	Het
Sec31a	T	C	5: 100,362,173	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,117,103	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,550,565	V539A	probably benign	Het
Sf3b5	A	G	10: 13,008,831	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tor1aip2	T	C	1: 156,064,737	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,922,907	E380G	probably damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Zfp110	A	G	7: 12,846,794		probably null	Het
Zfp335	G	A	2: 164,896,123	A856V	probably benign	Het
Zfp652	G	A	11: 95,749,782	E178K	possibly damaging	Het

Other mutations in Prss16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02025:Prss16	APN	13	22003021	missense	probably damaging	0.99
IGL02272:Prss16	APN	13	22003035	missense	probably damaging	0.96
IGL02383:Prss16	APN	13	22009527	missense	probably benign	0.00
IGL02892:Prss16	APN	13	22003050	missense	probably benign	0.03
IGL03325:Prss16	APN	13	22003247	missense	possibly damaging	0.90
BB001:Prss16	UTSW	13	22008664	missense	probably damaging	0.99
BB011:Prss16	UTSW	13	22008664	missense	probably damaging	0.99
R0645:Prss16	UTSW	13	22009376	unclassified	probably benign
R0970:Prss16	UTSW	13	22005117	missense	probably damaging	1.00
R1292:Prss16	UTSW	13	22009521	nonsense	probably null
R1371:Prss16	UTSW	13	22008686	unclassified	probably benign
R1525:Prss16	UTSW	13	22009443	missense	possibly damaging	0.50
R1624:Prss16	UTSW	13	22003313	missense	probably benign	0.31
R2233:Prss16	UTSW	13	22009409	missense	possibly damaging	0.70
R5147:Prss16	UTSW	13	22006094	missense	possibly damaging	0.70
R5670:Prss16	UTSW	13	22003051	missense	possibly damaging	0.74
R6440:Prss16	UTSW	13	22003160	missense	probably damaging	0.97
R6668:Prss16	UTSW	13	22006748	missense	probably null	0.01
R6791:Prss16	UTSW	13	22006067	missense	probably damaging	0.99
R7278:Prss16	UTSW	13	22003147	missense	probably damaging	1.00
R7924:Prss16	UTSW	13	22008664	missense	probably damaging	0.99
R8865:Prss16	UTSW	13	22003005	missense	possibly damaging	0.71
R8980:Prss16	UTSW	13	22003042	missense	probably benign	0.13
R9139:Prss16	UTSW	13	22008343	missense	probably damaging	1.00
R9211:Prss16	UTSW	13	22008584	missense	probably benign	0.19
R9276:Prss16	UTSW	13	22006005	start gained	probably benign
R9318:Prss16	UTSW	13	22006938	missense	possibly damaging	0.95
R9748:Prss16	UTSW	13	22008334	missense	possibly damaging	0.88
Z1176:Prss16	UTSW	13	22006054	nonsense	probably null
Z1176:Prss16	UTSW	13	22006400	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGCAAAACCAGACTGCGTCCC -3'
(R):5'- GCTGAAGGTCCTCAGAATTCCTCG -3'

Sequencing Primer
(F):5'- AATGATCCTCCTATGGCGAC -3'
(R):5'- CTCAGAATTCCTCGGGTGG -3'

Posted On

2014-03-28