Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01316:Pirt'

73851

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pirt

Ensembl Gene

ENSMUSG00000048070

Gene Name

phosphoinositide-interacting regulator of transient receptor potential channels

Synonyms

A530088H08Rik, Pirt

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01316

Quality Score

Status

Chromosome

Chromosomal Location

66802807-66820702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66816772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 28 (S28P)

Ref Sequence

ENSEMBL: ENSMUSP00000128117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123434]

AlphaFold

Q8BFY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000123434
AA Change: S28P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128117
Gene: ENSMUSG00000048070
AA Change: S28P

Domain	Start	End	E-Value	Type
Pfam:PIRT	5	135	8.3e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126999

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to thermal and capsaicin nociception. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,935,404 (GRCm39)	V326A	probably damaging	Het
Aldh1l1	A	G	6: 90,575,362 (GRCm39)	D883G	probably damaging	Het
Ankk1	A	G	9: 49,331,784 (GRCm39)		probably benign	Het
Cacna1s	T	C	1: 136,046,702 (GRCm39)	V1796A	probably benign	Het
Ccdc186	A	C	19: 56,801,845 (GRCm39)	C91G	probably benign	Het
Clec5a	T	C	6: 40,559,196 (GRCm39)	T63A	probably benign	Het
Cyp3a11	T	A	5: 145,791,961 (GRCm39)	K477N	possibly damaging	Het
Dram2	T	A	3: 106,480,296 (GRCm39)	V116E	possibly damaging	Het
Dram2	T	C	3: 106,478,950 (GRCm39)	Y181H	probably benign	Het
Eps15l1	A	T	8: 73,143,258 (GRCm39)	F184L	possibly damaging	Het
Greb1	T	A	12: 16,748,587 (GRCm39)	H1102L	probably benign	Het
Inpp5f	G	A	7: 128,292,430 (GRCm39)		probably benign	Het
Kcng1	T	C	2: 168,110,960 (GRCm39)	N68S	probably damaging	Het
Klhl41	A	G	2: 69,505,068 (GRCm39)	D457G	probably benign	Het
Krt1c	T	C	15: 101,719,646 (GRCm39)	R675G	probably benign	Het
Med13l	T	A	5: 118,900,846 (GRCm39)	V2200D	probably damaging	Het
Mme	T	A	3: 63,247,580 (GRCm39)		probably benign	Het
Nexn	A	T	3: 151,952,870 (GRCm39)	F283L	probably benign	Het
Noxa1	T	C	2: 24,976,023 (GRCm39)	D389G	probably benign	Het
Or2n1c	A	G	17: 38,519,388 (GRCm39)	N84S	probably damaging	Het
Or7g21	A	G	9: 19,032,718 (GRCm39)	I156V	probably benign	Het
Parp1	A	G	1: 180,420,500 (GRCm39)		probably benign	Het
Ros1	A	G	10: 51,963,975 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,758,791 (GRCm39)	T478A	probably benign	Het
Secisbp2	T	C	13: 51,808,552 (GRCm39)	S106P	probably benign	Het
Shroom1	C	T	11: 53,356,385 (GRCm39)	A416V	probably damaging	Het
Ski	C	T	4: 155,306,143 (GRCm39)	A279T	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tab2	A	G	10: 7,800,468 (GRCm39)	V28A	probably damaging	Het
Tmem126a	G	A	7: 90,101,927 (GRCm39)	P91S	probably damaging	Het
Ucma	T	C	2: 4,986,042 (GRCm39)		probably benign	Het

Other mutations in Pirt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Pirt	APN	11	66,816,794 (GRCm39)	missense	probably damaging	1.00
R0617:Pirt	UTSW	11	66,816,998 (GRCm39)	missense	probably damaging	1.00
R2567:Pirt	UTSW	11	66,816,985 (GRCm39)	missense	probably damaging	1.00
R6817:Pirt	UTSW	11	66,816,737 (GRCm39)	missense	probably damaging	1.00
R6818:Pirt	UTSW	11	66,816,719 (GRCm39)	missense	possibly damaging	0.91
R7625:Pirt	UTSW	11	66,816,769 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07