Mutagenetix > Incidental Mutation

Incidental Mutation 'R1371:Prss16'

157332

Institutional Source

Beutler Lab

Gene Symbol

Prss16

Ensembl Gene

ENSMUSG00000006179

Gene Name

serine protease 16 (thymus)

Synonyms

TSSP

MMRRC Submission

039435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22186346-22193911 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 22192856 bp (GRCm39)

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,379 (GRCm39)	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,789,628 (GRCm39)	T457M	probably damaging	Het
Akr1b10	C	T	6: 34,369,394 (GRCm39)	T208I	probably benign	Het
Aldh16a1	G	T	7: 44,796,674 (GRCm39)	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Asgr1	T	G	11: 69,946,923 (GRCm39)	C56W	probably benign	Het
Atp11b	T	C	3: 35,860,918 (GRCm39)	I335T	probably damaging	Het
BC061237	A	G	14: 44,741,762 (GRCm39)		probably benign	Het
Bdh1	G	T	16: 31,275,720 (GRCm39)	K280N	probably benign	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,108,172 (GRCm39)	E285G	probably benign	Het
Ces1f	C	T	8: 94,006,277 (GRCm39)	G18R	probably damaging	Het
Cfap43	T	A	19: 47,824,045 (GRCm39)	I109L	possibly damaging	Het
Cma2	T	C	14: 56,210,283 (GRCm39)	L56S	probably damaging	Het
Edc4	A	G	8: 106,617,382 (GRCm39)		probably benign	Het
F3	T	C	3: 121,526,159 (GRCm39)	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,352,310 (GRCm39)	S972C	probably damaging	Het
Heatr1	T	G	13: 12,432,513 (GRCm39)	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,950,738 (GRCm39)		probably benign	Het
Ice1	T	C	13: 70,744,340 (GRCm39)	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,481,873 (GRCm39)	N194D	probably damaging	Het
Ip6k1	G	A	9: 107,923,022 (GRCm39)	V385M	probably damaging	Het
Lig1	G	A	7: 13,022,611 (GRCm39)	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,537,165 (GRCm39)	V41I	probably damaging	Het
Macroh2a2	A	T	10: 61,585,112 (GRCm39)	D177E	possibly damaging	Het
Mst1r	T	A	9: 107,794,424 (GRCm39)	V1201E	probably damaging	Het
Myof	T	C	19: 37,892,116 (GRCm39)		probably benign	Het
Nbas	G	T	12: 13,532,379 (GRCm39)		probably benign	Het
Ndst1	A	G	18: 60,840,719 (GRCm39)	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983 (GRCm38)	G343R	probably damaging	Het
Or2a7	A	T	6: 43,151,234 (GRCm39)	T105S	probably benign	Het
Or2y1	T	A	11: 49,385,650 (GRCm39)	C97S	probably damaging	Het
Or4d2b	A	T	11: 87,780,122 (GRCm39)	I200N	probably damaging	Het
Pde4d	T	C	13: 109,253,595 (GRCm39)	S141P	probably benign	Het
Pigm	A	T	1: 172,204,381 (GRCm39)	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,846,750 (GRCm39)	I88F	probably benign	Het
Psmc4	G	A	7: 27,742,222 (GRCm39)		probably benign	Het
Ptger3	T	A	3: 157,273,365 (GRCm39)	C237*	probably null	Het
Recql	G	A	6: 142,318,601 (GRCm39)	T214M	probably damaging	Het
Rfx7	T	A	9: 72,526,857 (GRCm39)	V1349D	probably damaging	Het
Ros1	A	G	10: 51,964,041 (GRCm39)	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,947,053 (GRCm39)	S83T	probably benign	Het
Sall4	A	G	2: 168,598,394 (GRCm39)	Y149H	probably benign	Het
Smad1	A	G	8: 80,076,207 (GRCm39)		probably benign	Het
Snrnp70	T	C	7: 45,030,129 (GRCm39)		probably benign	Het
Spef2	C	A	15: 9,725,194 (GRCm39)		probably benign	Het
Sptlc1	T	C	13: 53,505,660 (GRCm39)	T253A	probably benign	Het
Zbbx	T	C	3: 74,959,784 (GRCm39)	Y595C	possibly damaging	Het
Zfp382	T	C	7: 29,833,114 (GRCm39)	V255A	probably benign	Het

Other mutations in Prss16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02025:Prss16	APN	13	22,187,191 (GRCm39)	missense	probably damaging	0.99
IGL02272:Prss16	APN	13	22,187,205 (GRCm39)	missense	probably damaging	0.96
IGL02383:Prss16	APN	13	22,193,697 (GRCm39)	missense	probably benign	0.00
IGL02892:Prss16	APN	13	22,187,220 (GRCm39)	missense	probably benign	0.03
IGL03325:Prss16	APN	13	22,187,417 (GRCm39)	missense	possibly damaging	0.90
BB001:Prss16	UTSW	13	22,192,834 (GRCm39)	missense	probably damaging	0.99
BB011:Prss16	UTSW	13	22,192,834 (GRCm39)	missense	probably damaging	0.99
R0645:Prss16	UTSW	13	22,193,546 (GRCm39)	unclassified	probably benign
R0970:Prss16	UTSW	13	22,189,287 (GRCm39)	missense	probably damaging	1.00
R1146:Prss16	UTSW	13	22,191,138 (GRCm39)	unclassified	probably benign
R1292:Prss16	UTSW	13	22,193,691 (GRCm39)	nonsense	probably null
R1525:Prss16	UTSW	13	22,193,613 (GRCm39)	missense	possibly damaging	0.50
R1624:Prss16	UTSW	13	22,187,483 (GRCm39)	missense	probably benign	0.31
R2233:Prss16	UTSW	13	22,193,579 (GRCm39)	missense	possibly damaging	0.70
R5147:Prss16	UTSW	13	22,190,264 (GRCm39)	missense	possibly damaging	0.70
R5670:Prss16	UTSW	13	22,187,221 (GRCm39)	missense	possibly damaging	0.74
R6440:Prss16	UTSW	13	22,187,330 (GRCm39)	missense	probably damaging	0.97
R6668:Prss16	UTSW	13	22,190,918 (GRCm39)	missense	probably null	0.01
R6791:Prss16	UTSW	13	22,190,237 (GRCm39)	missense	probably damaging	0.99
R7278:Prss16	UTSW	13	22,187,317 (GRCm39)	missense	probably damaging	1.00
R7924:Prss16	UTSW	13	22,192,834 (GRCm39)	missense	probably damaging	0.99
R8865:Prss16	UTSW	13	22,187,175 (GRCm39)	missense	possibly damaging	0.71
R8980:Prss16	UTSW	13	22,187,212 (GRCm39)	missense	probably benign	0.13
R9139:Prss16	UTSW	13	22,192,513 (GRCm39)	missense	probably damaging	1.00
R9211:Prss16	UTSW	13	22,192,754 (GRCm39)	missense	probably benign	0.19
R9276:Prss16	UTSW	13	22,190,175 (GRCm39)	start gained	probably benign
R9318:Prss16	UTSW	13	22,191,108 (GRCm39)	missense	possibly damaging	0.95
R9748:Prss16	UTSW	13	22,192,504 (GRCm39)	missense	possibly damaging	0.88
Z1176:Prss16	UTSW	13	22,190,570 (GRCm39)	start gained	probably benign
Z1176:Prss16	UTSW	13	22,190,224 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGTCTCACTATTGTCATCTGCCG -3'
(R):5'- CATGTACCAGCAAACTCCCTCTGTC -3'

Sequencing Primer
(F):5'- ACTATTGTCATCTGCCGTTCCC -3'
(R):5'- GCAAACTCCCTCTGTCCTGAG -3'

Posted On

2014-02-18