Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03015:Prrt4'

407913

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prrt4

Ensembl Gene

ENSMUSG00000079654

Gene Name

proline-rich transmembrane protein 4

Synonyms

D330027H18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL03015

Quality Score

Status

Chromosome

Chromosomal Location

29169231-29179583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29169996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 819 (M819V)

Ref Sequence

ENSEMBL: ENSMUSP00000123751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007993] [ENSMUST00000159200]

AlphaFold

B2RU40

Predicted Effect

probably benign
Transcript: ENSMUST00000007993

SMART Domains

Protein: ENSMUSP00000007993
Gene: ENSMUSG00000029701

Domain	Start	End	E-Value	Type
RRM	5	76	3.51e-19	SMART
low complexity region	99	114	N/A	INTRINSIC
RRM	115	187	4.52e-22	SMART
low complexity region	225	248	N/A	INTRINSIC
low complexity region	267	291	N/A	INTRINSIC
low complexity region	294	306	N/A	INTRINSIC
RRM	326	405	1.85e-18	SMART
RRM	478	566	5.46e-7	SMART
low complexity region	707	720	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159200
AA Change: M819V

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123751
Gene: ENSMUSG00000079654
AA Change: M819V

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	33	41	N/A	INTRINSIC
low complexity region	84	90	N/A	INTRINSIC
low complexity region	152	171	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
transmembrane domain	367	389	N/A	INTRINSIC
transmembrane domain	396	418	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	467	489	N/A	INTRINSIC
transmembrane domain	504	521	N/A	INTRINSIC
low complexity region	607	625	N/A	INTRINSIC
low complexity region	678	702	N/A	INTRINSIC
low complexity region	784	824	N/A	INTRINSIC
low complexity region	838	854	N/A	INTRINSIC
low complexity region	867	882	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	G	14: 29,708,273 (GRCm39)	W184G	possibly damaging	Het
Asb4	T	C	6: 5,398,515 (GRCm39)	V160A	possibly damaging	Het
Cct8	C	A	16: 87,283,553 (GRCm39)		probably benign	Het
Daw1	T	A	1: 83,161,103 (GRCm39)		probably benign	Het
Itpr2	T	C	6: 146,277,435 (GRCm39)	I325V	probably benign	Het
Lipk	A	G	19: 33,996,108 (GRCm39)	T7A	probably benign	Het
Ly75	A	G	2: 60,206,504 (GRCm39)	V55A	probably damaging	Het
Malrd1	A	C	2: 16,047,082 (GRCm39)	D1736A	unknown	Het
Nav3	T	A	10: 109,554,158 (GRCm39)	I1735F	probably damaging	Het
Nmbr	T	A	10: 14,636,412 (GRCm39)	V127E	probably damaging	Het
Notch2	A	G	3: 97,979,965 (GRCm39)	T160A	possibly damaging	Het
Psmd1	T	C	1: 86,055,914 (GRCm39)	S759P	probably damaging	Het
Rnf13	A	G	3: 57,741,165 (GRCm39)	E318G	possibly damaging	Het
Selenon	T	C	4: 134,272,829 (GRCm39)	N203S	probably benign	Het
Syt13	A	G	2: 92,781,725 (GRCm39)	I309V	possibly damaging	Het
Ush2a	C	T	1: 188,169,147 (GRCm39)	T1096I	probably benign	Het
Vwf	T	G	6: 125,661,101 (GRCm39)		probably benign	Het

Other mutations in Prrt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Prrt4	APN	6	29,176,455 (GRCm39)	missense	probably benign	0.33
IGL01585:Prrt4	APN	6	29,177,689 (GRCm39)	missense	probably benign	0.05
R0143:Prrt4	UTSW	6	29,170,670 (GRCm39)	missense	probably damaging	1.00
R0586:Prrt4	UTSW	6	29,171,183 (GRCm39)	missense	probably damaging	1.00
R1052:Prrt4	UTSW	6	29,169,813 (GRCm39)	missense	possibly damaging	0.66
R1391:Prrt4	UTSW	6	29,169,950 (GRCm39)	missense	possibly damaging	0.90
R3907:Prrt4	UTSW	6	29,177,173 (GRCm39)	missense	probably damaging	1.00
R4239:Prrt4	UTSW	6	29,170,163 (GRCm39)	missense	probably damaging	0.97
R4829:Prrt4	UTSW	6	29,177,181 (GRCm39)	missense	probably benign	0.01
R5070:Prrt4	UTSW	6	29,177,511 (GRCm39)	missense	probably benign
R5825:Prrt4	UTSW	6	29,177,182 (GRCm39)	missense	probably benign	0.31
R6023:Prrt4	UTSW	6	29,176,452 (GRCm39)	missense	probably benign
R6776:Prrt4	UTSW	6	29,176,551 (GRCm39)	missense	possibly damaging	0.95
R6860:Prrt4	UTSW	6	29,170,737 (GRCm39)	missense	possibly damaging	0.90
R6984:Prrt4	UTSW	6	29,171,429 (GRCm39)	missense	probably benign	0.18
R7032:Prrt4	UTSW	6	29,170,538 (GRCm39)	missense	possibly damaging	0.93
R7033:Prrt4	UTSW	6	29,171,147 (GRCm39)	missense	possibly damaging	0.89
R7444:Prrt4	UTSW	6	29,176,516 (GRCm39)	missense	probably benign
R7689:Prrt4	UTSW	6	29,177,140 (GRCm39)	missense	probably damaging	0.97
R7711:Prrt4	UTSW	6	29,177,455 (GRCm39)	missense	probably benign	0.00
R7735:Prrt4	UTSW	6	29,170,035 (GRCm39)	missense	possibly damaging	0.90
R7748:Prrt4	UTSW	6	29,177,190 (GRCm39)	missense	probably damaging	1.00
R7775:Prrt4	UTSW	6	29,177,718 (GRCm39)	missense	probably damaging	1.00
R7778:Prrt4	UTSW	6	29,177,718 (GRCm39)	missense	probably damaging	1.00
R7850:Prrt4	UTSW	6	29,176,900 (GRCm39)	critical splice donor site	probably null
R7880:Prrt4	UTSW	6	29,170,155 (GRCm39)	missense	probably benign
R8835:Prrt4	UTSW	6	29,169,986 (GRCm39)	missense	probably damaging	0.97
R8948:Prrt4	UTSW	6	29,177,665 (GRCm39)	missense	probably damaging	0.98
R8950:Prrt4	UTSW	6	29,177,665 (GRCm39)	missense	probably damaging	0.98
R9044:Prrt4	UTSW	6	29,171,540 (GRCm39)	missense	probably benign	0.02
R9214:Prrt4	UTSW	6	29,170,767 (GRCm39)	missense	possibly damaging	0.57

Posted On

2016-08-02