Mutagenetix > Incidental Mutation

Incidental Mutation 'R9128:Pianp'

693397

Institutional Source

Beutler Lab

Gene Symbol

Pianp

Ensembl Gene

ENSMUSG00000030329

Gene Name

PILR alpha associated neural protein

Synonyms

C530028O21Rik

MMRRC Submission

068927-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R9128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124973683-124980059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124977658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 185 (I185V)

Ref Sequence

ENSEMBL: ENSMUSP00000032479 (fasta)

Gene Model

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

AlphaFold

Q6P1B3

Predicted Effect

probably benign
Transcript: ENSMUST00000032479
AA Change: I185V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000032479
Gene: ENSMUSG00000030329
AA Change: I185V

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

probably benign
Transcript: ENSMUST00000160666
AA Change: I41V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125328
Gene: ENSMUSG00000030329
AA Change: I41V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160704
AA Change: I185V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124160
Gene: ENSMUSG00000030329
AA Change: I185V

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

probably benign
Transcript: ENSMUST00000162000
AA Change: I185V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145297
Gene: ENSMUSG00000030329
AA Change: I185V

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

probably benign
Transcript: ENSMUST00000162170
AA Change: I185V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123940
Gene: ENSMUSG00000030329
AA Change: I185V

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,838,352 (GRCm39)	V542A	possibly damaging	Het
Abhd8	G	T	8: 71,914,389 (GRCm39)	R80S	probably benign	Het
Actc1	T	C	2: 113,880,946 (GRCm39)	Y93C	possibly damaging	Het
Actn4	G	T	7: 28,593,929 (GRCm39)	D859E	possibly damaging	Het
Adcy2	C	T	13: 68,773,927 (GRCm39)	G1039R	probably damaging	Het
Als2	A	G	1: 59,219,709 (GRCm39)	M1202T	probably benign	Het
Aste1	T	A	9: 105,273,908 (GRCm39)	Y49*	probably null	Het
Atp8b4	T	C	2: 126,234,750 (GRCm39)	D422G	probably benign	Het
Bag6	T	A	17: 35,363,688 (GRCm39)	S791T	probably damaging	Het
Bivm	T	A	1: 44,167,949 (GRCm39)	W222R	probably null	Het
Bod1l	A	C	5: 41,946,266 (GRCm39)	V3003G	probably benign	Het
Bsn	T	C	9: 107,993,349 (GRCm39)	D801G	probably benign	Het
Ccdc14	G	A	16: 34,527,159 (GRCm39)	D403N	probably damaging	Het
Cenpj	T	A	14: 56,780,319 (GRCm39)	E964V	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Clca3a1	G	A	3: 144,463,795 (GRCm39)	R161W	probably damaging	Het
Dcxr	A	T	11: 120,617,372 (GRCm39)	V57E		Het
Dnah17	T	G	11: 117,937,004 (GRCm39)	N3400T	possibly damaging	Het
Dnaja3	C	T	16: 4,520,164 (GRCm39)	T444I	possibly damaging	Het
Dop1a	T	C	9: 86,395,208 (GRCm39)	S772P	probably benign	Het
Ednrb	T	C	14: 104,080,528 (GRCm39)	N129D	probably damaging	Het
Ep300	T	A	15: 81,533,946 (GRCm39)	M2001K	unknown	Het
Fam3b	A	G	16: 97,302,200 (GRCm39)	I8T	probably benign	Het
Fam98c	A	T	7: 28,854,115 (GRCm39)	S85T		Het
Fat1	G	A	8: 45,462,878 (GRCm39)	V1232I	probably benign	Het
Fzd3	T	A	14: 65,449,626 (GRCm39)	Y484F	probably damaging	Het
H3f3a	T	C	1: 180,630,660 (GRCm39)	I131M	possibly damaging	Het
Ifi206	A	T	1: 173,299,022 (GRCm39)	D861E	unknown	Het
Ihh	T	C	1: 74,985,498 (GRCm39)	Y329C	probably damaging	Het
Jak2	A	G	19: 29,278,462 (GRCm39)	N909D	probably damaging	Het
Krtap12-1	C	A	10: 77,556,623 (GRCm39)	C55*	probably null	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mreg	T	C	1: 72,231,216 (GRCm39)	T81A	probably benign	Het
Muc16	T	C	9: 18,558,878 (GRCm39)	T2472A	unknown	Het
Nanos3	A	T	8: 84,903,080 (GRCm39)	D27E	probably benign	Het
Nox3	T	G	17: 3,720,136 (GRCm39)	S350R	probably damaging	Het
Or4m1	A	G	14: 50,558,214 (GRCm39)	V26A	probably benign	Het
Or8k18	T	A	2: 86,086,022 (GRCm39)	N5I	probably damaging	Het
Pafah2	C	T	4: 134,147,281 (GRCm39)	T310M	probably damaging	Het
Pals1	A	G	12: 78,843,832 (GRCm39)	E12G	probably benign	Het
Pja2	T	C	17: 64,616,470 (GRCm39)	T142A	probably benign	Het
Poln	G	A	5: 34,171,658 (GRCm39)	P747L	probably damaging	Het
Pramel25	T	A	4: 143,520,178 (GRCm39)	S141T	probably benign	Het
Rdx	T	A	9: 51,976,179 (GRCm39)	L39*	probably null	Het
Rnf146	A	G	10: 29,223,539 (GRCm39)	W116R	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sec24d	A	G	3: 123,087,810 (GRCm39)	T224A	probably benign	Het
Serpinb9	T	A	13: 33,190,686 (GRCm39)	I54K	possibly damaging	Het
Slc25a13	A	T	6: 6,109,987 (GRCm39)	L324Q	probably null	Het
Slc9c1	T	C	16: 45,400,490 (GRCm39)	L700P	probably benign	Het
Snta1	T	C	2: 154,222,856 (GRCm39)	K289R	probably benign	Het
Sppl2a	A	G	2: 126,765,393 (GRCm39)	F243S	probably damaging	Het
Syne1	T	C	10: 5,058,556 (GRCm39)	E7319G	probably benign	Het
Taf5l	G	A	8: 124,730,014 (GRCm39)	P225L	probably benign	Het
Tet2	A	T	3: 133,175,374 (GRCm39)	N1324K	possibly damaging	Het
Usp5	A	T	6: 124,800,414 (GRCm39)		probably null	Het
Vmn2r124	G	T	17: 18,294,439 (GRCm39)	R842L	probably benign	Het
Vps16	A	G	2: 130,266,319 (GRCm39)	D2G	possibly damaging	Het
Vwf	T	C	6: 125,619,693 (GRCm39)	L1457P		Het
Xpo1	A	G	11: 23,235,058 (GRCm39)	T576A	probably damaging	Het
Zdhhc6	A	T	19: 55,301,680 (GRCm39)	Y100*	probably null	Het
Zfp534	T	A	4: 147,760,082 (GRCm39)	R196*	probably null	Het
Zfp710	C	T	7: 79,731,122 (GRCm39)	R100W	probably damaging	Het
Zfp750	T	C	11: 121,404,674 (GRCm39)	K67R	probably benign	Het
Zmynd10	T	C	9: 107,426,326 (GRCm39)	S158P		Het
Zmynd8	A	T	2: 165,700,058 (GRCm39)	M1K	probably null	Het

Other mutations in Pianp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01958:Pianp	APN	6	124,977,646 (GRCm39)	missense	possibly damaging	0.71
IGL02693:Pianp	APN	6	124,978,598 (GRCm39)	missense	possibly damaging	0.53
R0015:Pianp	UTSW	6	124,978,503 (GRCm39)	missense	probably damaging	1.00
R2208:Pianp	UTSW	6	124,976,602 (GRCm39)	missense	probably damaging	1.00
R6470:Pianp	UTSW	6	124,976,232 (GRCm39)	unclassified	probably benign
R6755:Pianp	UTSW	6	124,976,347 (GRCm39)	missense	probably benign	0.33
R6800:Pianp	UTSW	6	124,978,565 (GRCm39)	missense	possibly damaging	0.93
R6964:Pianp	UTSW	6	124,976,353 (GRCm39)	missense	possibly damaging	0.86
R7553:Pianp	UTSW	6	124,976,214 (GRCm39)	missense	unknown
R8409:Pianp	UTSW	6	124,976,214 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTGACCTTGGAGCCTCATC -3'
(R):5'- GAACTGATTTCCCCGAGTCTTC -3'

Sequencing Primer
(F):5'- GAGCCTCATCCTCACCACATGTATG -3'
(R):5'- GAGTCTTCCTCCACTCCAGTTAG -3'

Posted On

2022-01-20