Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Pianp'

541882

Institutional Source

Beutler Lab

Gene Symbol

Pianp

Ensembl Gene

ENSMUSG00000030329

Gene Name

PILR alpha associated neural protein

Synonyms

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6964 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

124996694-125003096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124999390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 54 (V54D)

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: V54D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032479
Gene: ENSMUSG00000030329
AA Change: V54D

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

possibly damaging
Transcript: ENSMUST00000159391
AA Change: V54D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124024
Gene: ENSMUSG00000030329
AA Change: V54D

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

possibly damaging
Transcript: ENSMUST00000160704
AA Change: V54D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124160
Gene: ENSMUSG00000030329
AA Change: V54D

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

possibly damaging
Transcript: ENSMUST00000161292
AA Change: V54D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125600
Gene: ENSMUSG00000030329
AA Change: V54D

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: V54D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145297
Gene: ENSMUSG00000030329
AA Change: V54D

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: V54D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123940
Gene: ENSMUSG00000030329
AA Change: V54D

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: 99.9%
10x: 99.4%
20x: 97.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	Het

Other mutations in Pianp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01958:Pianp	APN	6	125000683	missense	possibly damaging	0.71
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
R7553:Pianp	UTSW	6	124999251	missense	unknown
R8409:Pianp	UTSW	6	124999251	missense	unknown
R9128:Pianp	UTSW	6	125000695	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GACTCCTGGTGCAAACCTAC -3'
(R):5'- ATCCTCCCGAGATACTGTGG -3'

Sequencing Primer
(F):5'- CTACATGAGCCATCGCCTG -3'
(R):5'- TCCCGAGATACTGTGGGACCC -3'

Posted On

2018-11-28