Mutagenetix > Incidental Mutation

Incidental Mutation 'R2208:Pianp'

236778

Institutional Source

Beutler Lab

Gene Symbol

Pianp

Ensembl Gene

ENSMUSG00000030329

Gene Name

PILR alpha associated neural protein

Synonyms

C530028O21Rik

MMRRC Submission

040210-MU

Accession Numbers

Essential gene?

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

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124973683-124980059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124976602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 137 (P137Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145297 (fasta)

Gene Model

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

AlphaFold

Q6P1B3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032479
AA Change: P137Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032479
Gene: ENSMUSG00000030329
AA Change: P137Q

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 damaging
Transcript: ENSMUST00000159391
AA Change: P137Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124024
Gene: ENSMUSG00000030329
AA Change: P137Q

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

SMART Domains

Protein: ENSMUSP00000125328
Gene: ENSMUSG00000030329

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160704
AA Change: P137Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124160
Gene: ENSMUSG00000030329
AA Change: P137Q

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 damaging
Transcript: ENSMUST00000162000
AA Change: P137Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145297
Gene: ENSMUSG00000030329
AA Change: P137Q

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 damaging
Transcript: ENSMUST00000162170
AA Change: P137Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123940
Gene: ENSMUSG00000030329
AA Change: P137Q

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

Meta Mutation Damage Score

0.1062

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,995,096 (GRCm39)	V5460A	probably benign	Het
Bco2	A	G	9: 50,444,755 (GRCm39)	V517A	probably damaging	Het
Brca2	T	A	5: 150,455,809 (GRCm39)	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,084,941 (GRCm39)		probably null	Het
Ccdc39	A	G	3: 33,895,327 (GRCm39)	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,302,463 (GRCm39)	H198L	probably damaging	Het
Cdc73	T	A	1: 143,485,120 (GRCm39)	E516V	probably damaging	Het
Cep170b	T	A	12: 112,705,419 (GRCm39)	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,655,463 (GRCm39)	L56P	probably damaging	Het
Clec4d	T	A	6: 123,242,314 (GRCm39)	V22D	probably damaging	Het
Cplane1	T	A	15: 8,223,887 (GRCm39)	N883K	probably benign	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,441,137 (GRCm39)	L141P	probably damaging	Het
Cyp4x1	G	T	4: 114,983,791 (GRCm39)	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Enpp7	T	C	11: 118,879,588 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fitm2	T	A	2: 163,314,604 (GRCm39)		probably benign	Het
Gng10	T	A	4: 59,035,314 (GRCm39)	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,070,236 (GRCm39)	V268I	probably benign	Het
Hmcn2	G	A	2: 31,270,309 (GRCm39)	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krt36	C	T	11: 99,993,765 (GRCm39)	V358M	probably damaging	Het
Lmod3	T	C	6: 97,224,838 (GRCm39)	I328V	probably benign	Het
Lrp8	T	C	4: 107,712,987 (GRCm39)	V580A	probably damaging	Het
Masp2	T	C	4: 148,698,872 (GRCm39)	I651T	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Msi2	A	T	11: 88,480,934 (GRCm39)	S118T	probably damaging	Het
Muc19	T	C	15: 91,755,747 (GRCm39)		noncoding transcript	Het
Nabp1	G	A	1: 51,516,773 (GRCm39)	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,856,545 (GRCm39)	D196G	probably damaging	Het
Or11h4b	T	C	14: 50,919,020 (GRCm39)	I24V	probably benign	Het
Pax1	T	A	2: 147,207,722 (GRCm39)	I198N	probably damaging	Het
Pde3a	A	G	6: 141,196,073 (GRCm39)	E253G	probably damaging	Het
Phldb1	C	T	9: 44,607,428 (GRCm39)	R1192Q	probably damaging	Het
Prdm15	A	C	16: 97,600,464 (GRCm39)		probably null	Het
Ptprf	A	T	4: 118,126,369 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,525,246 (GRCm39)	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,378 (GRCm39)	T691A	probably benign	Het
Rundc3a	A	T	11: 102,292,914 (GRCm39)	S436C	probably damaging	Het
Sntb1	T	C	15: 55,769,714 (GRCm39)	T92A	possibly damaging	Het
Tars3	T	C	7: 65,332,596 (GRCm39)	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,026,888 (GRCm39)		probably null	Het
Tep1	T	C	14: 51,104,321 (GRCm39)	Q191R	probably benign	Het
Tmc2	C	A	2: 130,056,483 (GRCm39)		probably null	Het
Tns1	A	C	1: 74,118,399 (GRCm39)	I77S	probably damaging	Het
Trpd52l3	T	C	19: 29,981,646 (GRCm39)	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,445,309 (GRCm39)	N38K	possibly damaging	Het
Wdr90	A	T	17: 26,079,362 (GRCm39)	D257E	probably damaging	Het
Zbtb9	T	C	17: 27,193,098 (GRCm39)	C168R	possibly damaging	Het
Zfp1004	T	A	2: 150,035,065 (GRCm39)	V462E	probably benign	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
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
R9128:Pianp	UTSW	6	124,977,658 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TGCTACCCCATCAGGCTTTG -3'
(R):5'- TTTGCCAGCCTAGAACCTG -3'

Sequencing Primer
(F):5'- TACCCCATCAGGCTTTGAAGAGG -3'
(R):5'- TTTGCTGGAGACACTCACAG -3'

Posted On

2014-10-02