Incidental Mutation 'R6470:Pianp'
ID 516472
Institutional Source Beutler Lab
Gene Symbol Pianp
Ensembl Gene ENSMUSG00000030329
Gene Name PILR alpha associated neural protein
Synonyms C530028O21Rik
MMRRC Submission 044603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R6470 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 124973683-124980059 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 124976232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032479] [ENSMUST00000159391] [ENSMUST00000160666] [ENSMUST00000160704] [ENSMUST00000161292] [ENSMUST00000162000] [ENSMUST00000162170]
AlphaFold Q6P1B3
Predicted Effect unknown
Transcript: ENSMUST00000032479
AA Change: W14R
SMART Domains Protein: ENSMUSP00000032479
Gene: ENSMUSG00000030329
AA Change: W14R

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000159391
AA Change: W14R
SMART Domains Protein: ENSMUSP00000124024
Gene: ENSMUSG00000030329
AA Change: W14R

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:AJAP1_PANP_C 4 63 5.8e-19 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160704
AA Change: W14R
SMART Domains Protein: ENSMUSP00000124160
Gene: ENSMUSG00000030329
AA Change: W14R

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000161292
AA Change: W14R
SMART Domains Protein: ENSMUSP00000125600
Gene: ENSMUSG00000030329
AA Change: W14R

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162000
AA Change: W14R
SMART Domains Protein: ENSMUSP00000145297
Gene: ENSMUSG00000030329
AA Change: W14R

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000162170
AA Change: W14R
SMART Domains Protein: ENSMUSP00000123940
Gene: ENSMUSG00000030329
AA Change: W14R

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (45/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G T 8: 88,290,656 (GRCm39) V5L probably benign Het
Bptf A G 11: 106,963,593 (GRCm39) V1804A probably damaging Het
Brinp3 A G 1: 146,777,644 (GRCm39) D697G probably damaging Het
Carns1 T C 19: 4,221,782 (GRCm39) T158A possibly damaging Het
Cd300lg A G 11: 101,941,331 (GRCm39) N244S possibly damaging Het
Ces3b A T 8: 105,815,285 (GRCm39) Q12L possibly damaging Het
Chd9 A G 8: 91,659,426 (GRCm39) T129A probably damaging Het
Clca3a2 T A 3: 144,510,024 (GRCm39) probably null Het
Cubn G T 2: 13,327,804 (GRCm39) R2674S possibly damaging Het
Cyp2b10 T C 7: 25,611,081 (GRCm39) I146T possibly damaging Het
Cyp4v3 C T 8: 45,770,773 (GRCm39) W244* probably null Het
Dnah6 T A 6: 73,051,569 (GRCm39) D3075V probably damaging Het
Dpy19l2 A T 9: 24,572,039 (GRCm39) I327N possibly damaging Het
Dst T A 1: 34,334,318 (GRCm39) F4849I probably damaging Het
Dysf A G 6: 84,043,926 (GRCm39) I256V possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Garin5b T C 7: 4,760,850 (GRCm39) T621A probably benign Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Gm9936 T C 5: 114,995,482 (GRCm39) probably benign Het
Gria4 A G 9: 4,503,680 (GRCm39) F312S probably damaging Het
Ifna2 T C 4: 88,601,751 (GRCm39) N89S probably benign Het
Il17rb A G 14: 29,724,866 (GRCm39) S207P probably benign Het
Itga9 A T 9: 118,726,335 (GRCm39) I430F probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Ltk A T 2: 119,583,516 (GRCm39) probably null Het
Nat8l C T 5: 34,155,836 (GRCm39) T164M probably damaging Het
Nrf1 A G 6: 30,102,199 (GRCm39) D166G probably damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Or10a4 T C 7: 106,696,951 (GRCm39) I93T probably damaging Het
Phlpp2 A G 8: 110,663,826 (GRCm39) D955G probably benign Het
Plin2 G T 4: 86,586,607 (GRCm39) Q75K probably damaging Het
Qrich1 T C 9: 108,411,717 (GRCm39) V414A probably damaging Het
Ros1 A G 10: 52,042,140 (GRCm39) probably null Het
Sardh C T 2: 27,134,384 (GRCm39) R44Q probably damaging Het
Scaf4 C T 16: 90,026,526 (GRCm39) W1072* probably null Het
Sh3rf3 A G 10: 58,819,791 (GRCm39) K201E probably damaging Het
Shprh G T 10: 11,047,681 (GRCm39) A1010S probably damaging Het
Slc35d1 A G 4: 103,047,019 (GRCm39) S260P probably damaging Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Sptb A G 12: 76,659,603 (GRCm39) L1099P probably damaging Het
Srrt T C 5: 137,300,918 (GRCm39) D90G probably damaging Het
Syt10 T C 15: 89,676,804 (GRCm39) D394G probably damaging Het
Tlr3 T C 8: 45,850,422 (GRCm39) D301G probably damaging Het
Ubr3 T A 2: 69,795,804 (GRCm39) M916K probably benign Het
Other mutations in Pianp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCCAACTTGGGGCCTATTAAGG -3'
(R):5'- AACCTGCCGACGTGATCTTG -3'

Sequencing Primer
(F):5'- CTATTAAGGACTGGCCCCTTGG -3'
(R):5'- ACGTGATCTTGGGACCCGTG -3'
Posted On 2018-05-21