Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02199:Prrt3'

284230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prrt3

Ensembl Gene

ENSMUSG00000045009

Gene Name

proline-rich transmembrane protein 3

Synonyms

B230206N24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02199

Quality Score

Status

Chromosome

Chromosomal Location

113470600-113478892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113471770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 801 (P801S)

Ref Sequence

ENSEMBL: ENSMUSP00000145443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032422] [ENSMUST00000101059] [ENSMUST00000204134] [ENSMUST00000204268] [ENSMUST00000205075] [ENSMUST00000205170]

AlphaFold

Q6PE13

Predicted Effect

probably benign
Transcript: ENSMUST00000032422

SMART Domains

Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:DUF3456	45	103	1.7e-9	PFAM
EGF	154	193	2.11e1	SMART
FU	208	255	1.66e-1	SMART
EGF	213	244	2.2e1	SMART
EGF_like	245	290	4.26e-3	SMART
FU	268	315	4.46e-2	SMART
EGF_CA	305	344	1.1e-7	SMART
transmembrane domain	363	382	N/A	INTRINSIC
transmembrane domain	387	406	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101059
AA Change: P800S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098620
Gene: ENSMUSG00000045009
AA Change: P800S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	423	447	N/A	INTRINSIC
transmembrane domain	463	485	N/A	INTRINSIC
transmembrane domain	492	511	N/A	INTRINSIC
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	561	583	N/A	INTRINSIC
transmembrane domain	588	610	N/A	INTRINSIC
transmembrane domain	630	652	N/A	INTRINSIC
transmembrane domain	667	689	N/A	INTRINSIC
low complexity region	885	905	N/A	INTRINSIC
low complexity region	927	943	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129125

Predicted Effect

probably damaging
Transcript: ENSMUST00000204134
AA Change: P801S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145031
Gene: ENSMUSG00000045009
AA Change: P801S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	424	448	N/A	INTRINSIC
transmembrane domain	464	486	N/A	INTRINSIC
transmembrane domain	493	512	N/A	INTRINSIC
transmembrane domain	527	549	N/A	INTRINSIC
transmembrane domain	562	584	N/A	INTRINSIC
transmembrane domain	589	611	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	886	906	N/A	INTRINSIC
low complexity region	928	944	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204268
AA Change: P801S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145443
Gene: ENSMUSG00000045009
AA Change: P801S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	424	448	N/A	INTRINSIC
transmembrane domain	464	486	N/A	INTRINSIC
transmembrane domain	493	512	N/A	INTRINSIC
transmembrane domain	527	549	N/A	INTRINSIC
transmembrane domain	562	584	N/A	INTRINSIC
transmembrane domain	589	611	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	886	906	N/A	INTRINSIC
low complexity region	928	944	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204920

Predicted Effect

probably benign
Transcript: ENSMUST00000205075

SMART Domains

Protein: ENSMUSP00000145089
Gene: ENSMUSG00000045009

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205170

SMART Domains

Protein: ENSMUSP00000145183
Gene: ENSMUSG00000045009

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	125	136	N/A	INTRINSIC
low complexity region	142	162	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
low complexity region	270	281	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Aspg	T	C	12: 112,087,426 (GRCm39)	V294A	probably benign	Het
Brms1l	A	G	12: 55,907,957 (GRCm39)		probably benign	Het
Celf5	T	A	10: 81,318,318 (GRCm39)	D41V	possibly damaging	Het
Clcn3	T	A	8: 61,386,126 (GRCm39)	K282*	probably null	Het
Clcn3	T	A	8: 61,380,308 (GRCm39)	T543S	possibly damaging	Het
Ctsj	T	A	13: 61,150,351 (GRCm39)	N216I	probably damaging	Het
Dusp28	A	G	1: 92,835,280 (GRCm39)		probably benign	Het
Fbp1	A	G	13: 63,015,193 (GRCm39)	I262T	probably damaging	Het
Gata4	A	G	14: 63,437,912 (GRCm39)	V413A	possibly damaging	Het
Glb1	A	G	9: 114,303,015 (GRCm39)	N617S	probably benign	Het
Gm454	T	A	5: 138,202,285 (GRCm39)		noncoding transcript	Het
Hesx1	A	G	14: 26,723,481 (GRCm39)	S104G	probably benign	Het
Igf2bp3	T	C	6: 49,065,458 (GRCm39)	N478S	probably benign	Het
Klrk1	T	C	6: 129,598,207 (GRCm39)		probably null	Het
Lamb2	A	G	9: 108,357,824 (GRCm39)	T116A	possibly damaging	Het
Mbd2	T	C	18: 70,726,371 (GRCm39)	V270A	probably damaging	Het
Meis2	C	T	2: 115,830,737 (GRCm39)	V259I	probably benign	Het
Mtcl2	A	T	2: 156,872,865 (GRCm39)	L882Q	probably damaging	Het
Ngly1	T	A	14: 16,290,844 (GRCm38)	I442K	probably damaging	Het
Nrxn1	A	G	17: 90,344,686 (GRCm39)	L409P	probably damaging	Het
Otog	G	A	7: 45,926,775 (GRCm39)	V1175I	possibly damaging	Het
Parp12	C	T	6: 39,073,524 (GRCm39)	A434T	probably benign	Het
Rps6ka2	G	T	17: 7,521,852 (GRCm39)		probably benign	Het
Slc18a1	C	A	8: 69,496,632 (GRCm39)	V344L	probably benign	Het
Spg11	T	A	2: 121,890,034 (GRCm39)	T2103S	probably damaging	Het
Stoml2	A	G	4: 43,029,366 (GRCm39)		probably benign	Het
Tshr	T	G	12: 91,505,057 (GRCm39)	L73R	probably damaging	Het
Ylpm1	C	T	12: 85,080,779 (GRCm39)	Q786*	probably null	Het

Other mutations in Prrt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Prrt3	APN	6	113,474,731 (GRCm39)	missense	possibly damaging	0.66
IGL02441:Prrt3	APN	6	113,473,977 (GRCm39)	missense	probably damaging	0.99
IGL02498:Prrt3	APN	6	113,474,788 (GRCm39)	missense	possibly damaging	0.62
IGL02508:Prrt3	APN	6	113,471,268 (GRCm39)	missense	probably damaging	1.00
IGL03231:Prrt3	APN	6	113,474,485 (GRCm39)	missense	possibly damaging	0.83
R0102:Prrt3	UTSW	6	113,474,790 (GRCm39)	missense	probably damaging	0.97
R0102:Prrt3	UTSW	6	113,474,790 (GRCm39)	missense	probably damaging	0.97
R0207:Prrt3	UTSW	6	113,472,801 (GRCm39)	missense	probably damaging	1.00
R1005:Prrt3	UTSW	6	113,471,739 (GRCm39)	missense	probably damaging	1.00
R1550:Prrt3	UTSW	6	113,472,468 (GRCm39)	missense	probably damaging	0.97
R4036:Prrt3	UTSW	6	113,474,641 (GRCm39)	frame shift	probably null
R4393:Prrt3	UTSW	6	113,471,907 (GRCm39)	missense	probably benign
R4604:Prrt3	UTSW	6	113,475,198 (GRCm39)	missense	possibly damaging	0.83
R4825:Prrt3	UTSW	6	113,475,099 (GRCm39)	missense	probably benign	0.01
R5155:Prrt3	UTSW	6	113,474,520 (GRCm39)	splice site	probably null
R6154:Prrt3	UTSW	6	113,471,989 (GRCm39)	missense	probably damaging	1.00
R7570:Prrt3	UTSW	6	113,471,449 (GRCm39)	missense	probably damaging	0.98
R8903:Prrt3	UTSW	6	113,472,796 (GRCm39)	missense	probably damaging	0.98
R9335:Prrt3	UTSW	6	113,475,058 (GRCm39)	missense	probably benign	0.12
R9574:Prrt3	UTSW	6	113,474,587 (GRCm39)	missense	probably benign	0.12
R9768:Prrt3	UTSW	6	113,474,032 (GRCm39)	missense	probably damaging	1.00
Z1177:Prrt3	UTSW	6	113,474,263 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16