Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Prss16'

287201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prss16

Ensembl Gene

ENSMUSG00000006179

Gene Name

serine protease 16 (thymus)

Synonyms

TSSP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

22186346-22193911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22187205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 455 (Q455L)

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: Q455L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006341
Gene: ENSMUSG00000006179
AA Change: Q455L

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
AA Change: Q115L

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223857

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,757,021 (GRCm39)	C759*	probably null	Het
Adgrg6	T	A	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Anxa9	A	G	3: 95,213,205 (GRCm39)	V47A	probably benign	Het
Arhgef12	T	A	9: 42,912,748 (GRCm39)	D483V	probably damaging	Het
Arrdc3	C	A	13: 81,039,769 (GRCm39)		probably benign	Het
Ccdc169	A	G	3: 55,058,169 (GRCm39)	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,780,385 (GRCm39)	V731D	possibly damaging	Het
Cdh3	G	T	8: 107,274,468 (GRCm39)		probably null	Het
Cntnap1	G	A	11: 101,069,142 (GRCm39)	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,905,225 (GRCm39)	V852E	probably damaging	Het
Csmd1	A	T	8: 16,249,907 (GRCm39)	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,930,075 (GRCm39)		probably benign	Het
Dusp6	T	A	10: 99,101,881 (GRCm39)	V289D	probably damaging	Het
Ecpas	A	T	4: 58,811,731 (GRCm39)	N1439K	probably benign	Het
Epha6	C	T	16: 59,639,300 (GRCm39)	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,746,478 (GRCm39)	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,258,242 (GRCm39)	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,475,707 (GRCm39)	V152E	probably benign	Het
Hmces	A	G	6: 87,894,837 (GRCm39)		probably null	Het
Hsph1	A	G	5: 149,540,995 (GRCm39)	S852P	probably benign	Het
Kat6b	A	C	14: 21,676,846 (GRCm39)	K394Q	probably damaging	Het
Kdr	G	A	5: 76,122,500 (GRCm39)	T475I	probably benign	Het
Klhl25	A	G	7: 75,516,368 (GRCm39)	T425A	probably benign	Het
Klk1b8	T	A	7: 43,602,217 (GRCm39)	C50S	probably damaging	Het
Kri1	T	C	9: 21,187,464 (GRCm39)	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,355,768 (GRCm39)	S953P	probably benign	Het
Lpin1	A	G	12: 16,597,601 (GRCm39)	V681A	probably damaging	Het
Lpin3	A	G	2: 160,743,581 (GRCm39)	T508A	probably benign	Het
Moxd1	T	A	10: 24,158,598 (GRCm39)	Y417*	probably null	Het
Mthfd1l	T	G	10: 3,991,812 (GRCm39)	I588S	probably damaging	Het
Myo5c	C	A	9: 75,173,442 (GRCm39)	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,791,883 (GRCm39)		probably benign	Het
Nme8	T	C	13: 19,842,996 (GRCm39)	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,443,975 (GRCm39)	N249T	probably damaging	Het
Pex11g	A	G	8: 3,515,898 (GRCm39)	V45A	probably benign	Het
Pkhd1	C	A	1: 20,279,484 (GRCm39)	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,970,589 (GRCm39)	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,473,938 (GRCm39)	V353A	probably damaging	Het
Ptpn6	A	T	6: 124,698,171 (GRCm39)	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,443,877 (GRCm39)	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,836,239 (GRCm39)	L598F	probably damaging	Het
Sardh	T	G	2: 27,115,003 (GRCm39)	D550A	probably benign	Het
Serpinc1	T	G	1: 160,827,562 (GRCm39)	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,028,474 (GRCm39)	D650V	probably benign	Het
Sipa1l2	T	A	8: 126,218,750 (GRCm39)	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,716,621 (GRCm39)	T294A	probably benign	Het
Srrm2	T	C	17: 24,034,756 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,727,612 (GRCm39)	N241I	probably benign	Het
Tcaf3	T	C	6: 42,573,594 (GRCm39)	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,814,297 (GRCm39)	Q322L	probably damaging	Het
Tnni2	C	A	7: 141,997,166 (GRCm39)	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,565,372 (GRCm39)	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,853,352 (GRCm39)	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071 (GRCm39)	K331N	probably damaging	Het
Usp50	G	A	2: 126,611,864 (GRCm39)	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,604,973 (GRCm39)	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,604,978 (GRCm39)	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,763,843 (GRCm39)	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,399,901 (GRCm39)	R383G	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
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
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

Posted On

2015-04-16