Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01061:Prrt3'

51227

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: 0.101) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

113470600-113478892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113474731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 164 (K164E)

Ref Sequence

ENSEMBL: ENSMUSP00000145183 (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 benign
Transcript: ENSMUST00000101059
AA Change: K164E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098620
Gene: ENSMUSG00000045009
AA Change: K164E

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 benign
Transcript: ENSMUST00000204134
AA Change: K164E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145031
Gene: ENSMUSG00000045009
AA Change: K164E

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 benign
Transcript: ENSMUST00000204268
AA Change: K164E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145443
Gene: ENSMUSG00000045009
AA Change: K164E

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

possibly damaging
Transcript: ENSMUST00000205075
AA Change: K164E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145089
Gene: ENSMUSG00000045009
AA Change: K164E

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

possibly damaging
Transcript: ENSMUST00000205170
AA Change: K164E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145183
Gene: ENSMUSG00000045009
AA Change: K164E

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,619,686 (GRCm39)	C186*	probably null	Het
Ankmy1	A	T	1: 92,798,696 (GRCm39)		probably benign	Het
B3gnt2	T	A	11: 22,786,042 (GRCm39)	E382V	probably damaging	Het
Carmil3	T	G	14: 55,736,087 (GRCm39)	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,497,693 (GRCm39)		probably benign	Het
Chek1	G	A	9: 36,625,815 (GRCm39)	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,320,680 (GRCm39)	I92L	probably benign	Het
Ddx56	C	T	11: 6,214,671 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,672,586 (GRCm39)	M887K	probably null	Het
Dnajc18	A	G	18: 35,813,995 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,596,653 (GRCm39)	V401A	probably damaging	Het
Dock4	A	C	12: 40,752,968 (GRCm39)	N434T	probably benign	Het
Dync2i1	C	A	12: 116,193,324 (GRCm39)	A543S	probably benign	Het
Ehbp1l1	A	T	19: 5,767,916 (GRCm39)	M1129K	probably benign	Het
Fam83a	A	T	15: 57,849,771 (GRCm39)	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 30,973,054 (GRCm39)	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,325,698 (GRCm39)	F414L	possibly damaging	Het
Kndc1	A	T	7: 139,502,610 (GRCm39)	E965D	probably benign	Het
Lrrc66	T	C	5: 73,772,842 (GRCm39)	K209E	probably benign	Het
Mcm3	A	T	1: 20,884,720 (GRCm39)	I261N	possibly damaging	Het
Mier3	T	A	13: 111,850,970 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,234,720 (GRCm39)	E669G	probably damaging	Het
Myh1	T	A	11: 67,108,688 (GRCm39)	M1368K	probably benign	Het
Nav1	A	G	1: 135,378,368 (GRCm39)	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,210,998 (GRCm39)	L363F	probably damaging	Het
Or14j2	A	G	17: 37,885,795 (GRCm39)	I173T	possibly damaging	Het
Or52b1	A	G	7: 104,978,589 (GRCm39)	I270T	possibly damaging	Het
Or9i1	T	C	19: 13,840,069 (GRCm39)	V304A	possibly damaging	Het
Pkd1l3	A	G	8: 110,365,338 (GRCm39)	H1153R	probably damaging	Het
Poglut3	A	G	9: 53,299,887 (GRCm39)		probably benign	Het
Ppp6r2	A	T	15: 89,170,218 (GRCm39)		probably benign	Het
Prelid3b	T	C	2: 174,307,614 (GRCm39)		probably null	Het
Rab22a	T	A	2: 173,530,003 (GRCm39)	D60E	probably damaging	Het
Rab32	A	G	10: 10,433,618 (GRCm39)	L72P	probably damaging	Het
Samm50	A	G	15: 84,086,455 (GRCm39)	T225A	probably benign	Het
Snx27	T	A	3: 94,436,287 (GRCm39)		probably benign	Het
Taf7	G	A	18: 37,776,486 (GRCm39)	T27M	probably damaging	Het
Tgm5	A	T	2: 120,901,977 (GRCm39)	C231S	probably benign	Het
Tll1	A	G	8: 64,491,488 (GRCm39)		probably null	Het
Tmem150a	A	G	6: 72,334,101 (GRCm39)	D61G	probably damaging	Het
Ttll8	G	A	15: 88,801,453 (GRCm39)	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,813,569 (GRCm39)	D1293E	probably benign	Het
Utp20	T	C	10: 88,606,566 (GRCm39)	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,491,183 (GRCm39)	W355R	probably damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zfhx2	T	A	14: 55,311,339 (GRCm39)	N452Y	possibly damaging	Het
Zfp180	T	G	7: 23,804,170 (GRCm39)	D196E	possibly damaging	Het

Other mutations in Prrt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02199:Prrt3	APN	6	113,471,770 (GRCm39)	missense	probably damaging	1.00
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

2013-06-21