Mutagenetix > Incidental Mutation

Incidental Mutation 'R6791:Prss16'

532607

Institutional Source

Beutler Lab

Gene Symbol

Prss16

Ensembl Gene

ENSMUSG00000006179

Gene Name

serine protease 16 (thymus)

Synonyms

TSSP

MMRRC Submission

044904-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6791 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

22186346-22193911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22190237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 307 (V307E)

Ref Sequence

ENSEMBL: ENSMUSP00000006341 (fasta)

Gene Model

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

AlphaFold

Q9QXE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000006341
AA Change: V307E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006341
Gene: ENSMUSG00000006179
AA Change: V307E

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

probably benign
Transcript: ENSMUST00000150547

Meta Mutation Damage Score

0.8263

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,504 (GRCm39)	C3526S	probably damaging	Het
Adgrf2	T	C	17: 43,021,774 (GRCm39)	N350S	probably benign	Het
Atp12a	G	A	14: 56,624,439 (GRCm39)		probably null	Het
AW551984	T	G	9: 39,511,955 (GRCm39)	S19R	probably damaging	Het
Bet1l	A	G	7: 140,434,418 (GRCm39)	I77T	possibly damaging	Het
Cfap206	T	C	4: 34,711,414 (GRCm39)	I494M	possibly damaging	Het
Cog3	A	G	14: 75,968,118 (GRCm39)	I415T	probably damaging	Het
Col15a1	C	T	4: 47,300,518 (GRCm39)	P1060S	probably damaging	Het
Ctrb1	A	G	8: 112,415,981 (GRCm39)	V71A	possibly damaging	Het
Ddhd2	T	C	8: 26,242,242 (GRCm39)	Y211C	probably benign	Het
Fbxl20	T	C	11: 98,000,336 (GRCm39)	T128A	probably benign	Het
Fdps	A	G	3: 89,002,659 (GRCm39)		probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,177,361 (GRCm39)		probably benign	Het
Gm8369	T	A	19: 11,489,200 (GRCm39)		probably benign	Het
Grm6	T	C	11: 50,750,601 (GRCm39)	V588A	possibly damaging	Het
Heatr6	T	C	11: 83,649,167 (GRCm39)	L174S	probably benign	Het
Kif1a	G	A	1: 92,993,859 (GRCm39)	P364S	probably damaging	Het
Klk7	A	G	7: 43,462,684 (GRCm39)	D163G	probably benign	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,704,474 (GRCm39)		probably benign	Het
Lamb3	T	C	1: 193,017,169 (GRCm39)	S787P	possibly damaging	Het
Lrp5	C	T	19: 3,650,753 (GRCm39)	C1227Y	probably damaging	Het
Mgst1	G	A	6: 138,118,805 (GRCm39)		probably benign	Het
Mllt6	T	C	11: 97,571,428 (GRCm39)	S1022P	probably damaging	Het
Mtmr2	T	C	9: 13,716,678 (GRCm39)	I521T	probably benign	Het
Naalad2	T	C	9: 18,296,426 (GRCm39)	T75A	possibly damaging	Het
Nadsyn1	A	T	7: 143,372,845 (GRCm39)	I83N	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Neurl4	T	A	11: 69,799,336 (GRCm39)	L904Q	probably damaging	Het
Ngp	A	C	9: 110,249,017 (GRCm39)	I30L	probably benign	Het
Or5af1	T	C	11: 58,722,903 (GRCm39)	Y308H	probably benign	Het
Or6c5c	G	A	10: 129,299,023 (GRCm39)	M159I	probably benign	Het
Orm2	A	T	4: 63,282,196 (GRCm39)	M125L	probably benign	Het
Pax2	A	T	19: 44,777,260 (GRCm39)	D151V	possibly damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Pramel11	T	A	4: 143,622,252 (GRCm39)	I368F	probably benign	Het
Prss54	T	G	8: 96,291,283 (GRCm39)		probably null	Het
Rspo1	A	G	4: 124,900,976 (GRCm39)	H108R	probably benign	Het
Sh3bp5l	C	A	11: 58,237,098 (GRCm39)	H352N	probably damaging	Het
Skor1	T	C	9: 63,047,636 (GRCm39)		probably null	Het
Smad6	A	G	9: 63,919,509 (GRCm39)	Y289H	probably benign	Het
Spart	G	A	3: 55,034,982 (GRCm39)	G456D	probably damaging	Het
Spg11	T	C	2: 121,923,924 (GRCm39)	E799G	probably damaging	Het
Tbc1d4	T	G	14: 101,845,695 (GRCm39)	K68Q	probably damaging	Het
Treml2	A	G	17: 48,616,247 (GRCm39)	M296V	probably benign	Het
Ugt2b1	C	A	5: 87,067,116 (GRCm39)	D436Y	probably damaging	Het
Usp9y	A	T	Y: 1,325,042 (GRCm39)		probably null	Homo
Vmn2r6	T	C	3: 64,445,580 (GRCm39)	Y626C	probably damaging	Het
Xpc	G	A	6: 91,483,839 (GRCm39)	A169V	probably benign	Het
Zfp131	A	G	13: 120,228,129 (GRCm39)	V506A	probably damaging	Het
Zfp74	A	G	7: 29,633,860 (GRCm39)	I616T	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
R1371:Prss16	UTSW	13	22,192,856 (GRCm39)	unclassified	probably benign
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
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'- GAAGAGGAGGATTTCGGTCGTC -3'
(R):5'- CTCGCTTTCCGAAGTGTCTG -3'

Sequencing Primer
(F):5'- CGTCTGAACTCGGTGAAGG -3'
(R):5'- TTCCGAAGTGTCTGGCGGC -3'

Posted On

2018-08-29