Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Pianp'

181439

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pianp

Ensembl Gene

ENSMUSG00000030329

Gene Name

PILR alpha associated neural protein

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

124996694-125003096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125000683 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 181 (T181A)

Ref Sequence

ENSEMBL: ENSMUSP00000123940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032479] [ENSMUST00000159391] [ENSMUST00000160666] [ENSMUST00000160704] [ENSMUST00000161292] [ENSMUST00000162000] [ENSMUST00000162170]

AlphaFold

Q6P1B3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032479
AA Change: T181A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032479
Gene: ENSMUSG00000030329
AA Change: T181A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
Pfam:AJAP1_PANP_C	100	272	2.1e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159391

SMART Domains

Protein: ENSMUSP00000124024
Gene: ENSMUSG00000030329

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
Pfam:AJAP1_PANP_C	100	165	5.3e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160666
AA Change: T37A

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

SMART Domains

Protein: ENSMUSP00000125328
Gene: ENSMUSG00000030329
AA Change: T37A

Domain	Start	End	E-Value	Type
Pfam:AJAP1_PANP_C	4	63	5.8e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160704
AA Change: T181A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124160
Gene: ENSMUSG00000030329
AA Change: T181A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
Pfam:AJAP1_PANP_C	100	272	2.1e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161292

SMART Domains

Protein: ENSMUSP00000125600
Gene: ENSMUSG00000030329

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	59	72	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162000
AA Change: T181A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000145297
Gene: ENSMUSG00000030329
AA Change: T181A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
Pfam:AJAP1_PANP_C	130	240	3.3e-8	PFAM
low complexity region	251	264	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162170
AA Change: T181A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123940
Gene: ENSMUSG00000030329
AA Change: T181A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
Pfam:AJAP1_PANP_C	131	240	6.5e-12	PFAM
low complexity region	251	264	N/A	INTRINSIC

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 ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Pianp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02693:Pianp	APN	6	125001635	missense	possibly damaging	0.53
R0015:Pianp	UTSW	6	125001540	missense	probably damaging	1.00
R2208:Pianp	UTSW	6	124999639	missense	probably damaging	1.00
R6470:Pianp	UTSW	6	124999269	unclassified	probably benign
R6755:Pianp	UTSW	6	124999384	missense	probably benign	0.33
R6800:Pianp	UTSW	6	125001602	missense	possibly damaging	0.93
R6964:Pianp	UTSW	6	124999390	missense	possibly damaging	0.86
R7553:Pianp	UTSW	6	124999251	missense	unknown
R8409:Pianp	UTSW	6	124999251	missense	unknown
R9128:Pianp	UTSW	6	125000695	missense	probably benign	0.06

Posted On

2014-05-07