Incidental Mutation 'R4287:Pnn'
ID 322072
Institutional Source Beutler Lab
Gene Symbol Pnn
Ensembl Gene ENSMUSG00000020994
Gene Name pinin
Synonyms D12Ertd512e
MMRRC Submission 041652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4287 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 59113705-59120803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59118956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 513 (T513I)
Ref Sequence ENSEMBL: ENSMUSP00000021381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021381] [ENSMUST00000219176]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021381
AA Change: T513I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021381
Gene: ENSMUSG00000020994
AA Change: T513I

DomainStartEndE-ValueType
Pfam:Pinin_SDK_N 1 132 3.7e-61 PFAM
Pfam:Pinin_SDK_memA 136 261 7.8e-38 PFAM
coiled coil region 290 374 N/A INTRINSIC
low complexity region 451 508 N/A INTRINSIC
low complexity region 514 525 N/A INTRINSIC
internal_repeat_1 559 572 9.16e-7 PROSPERO
internal_repeat_1 563 576 9.16e-7 PROSPERO
low complexity region 579 647 N/A INTRINSIC
low complexity region 651 665 N/A INTRINSIC
low complexity region 671 682 N/A INTRINSIC
low complexity region 695 726 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217773
Predicted Effect probably benign
Transcript: ENSMUST00000219176
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (40/41)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele show complete perinatal lethality, edema, axial skeletal abnormalities, cardiac outflow tract defects, cleft palate, and impaired development of the dorsal dermis and brown fat tissue. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc5 A G 5: 122,938,664 (GRCm39) V362A probably benign Het
Ash1l T A 3: 88,973,722 (GRCm39) C2594S probably damaging Het
Ccdc82 C A 9: 13,253,043 (GRCm39) Q303K probably benign Het
Cog1 A G 11: 113,544,853 (GRCm39) Y345C probably damaging Het
Fpgt T C 3: 154,796,997 (GRCm39) probably benign Het
Glrb A T 3: 80,752,539 (GRCm39) V408D possibly damaging Het
Gm7135 A G 1: 97,328,123 (GRCm39) noncoding transcript Het
Il1rn T C 2: 24,239,557 (GRCm39) L151P probably damaging Het
Itgav G T 2: 83,555,184 (GRCm39) E36* probably null Het
Kidins220 G A 12: 25,106,845 (GRCm39) E1433K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra3 A G 6: 130,311,265 (GRCm39) C39R probably benign Het
Lce1i A G 3: 92,684,742 (GRCm39) S145P unknown Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Mpp3 G A 11: 101,914,289 (GRCm39) A102V probably damaging Het
Mug2 T A 6: 122,040,632 (GRCm39) D727E probably benign Het
Ndufb8 T C 19: 44,541,130 (GRCm39) I107V probably benign Het
Or5h18 A T 16: 58,847,976 (GRCm39) M98K probably benign Het
Ric8a A G 7: 140,441,335 (GRCm39) Y210C probably damaging Het
Ripor2 G A 13: 24,908,992 (GRCm39) V1037M probably damaging Het
Rreb1 A T 13: 38,115,907 (GRCm39) T1089S probably benign Het
Rrs1 C T 1: 9,616,440 (GRCm39) S231L probably damaging Het
Rrs1 C T 1: 9,616,448 (GRCm39) R234C possibly damaging Het
Sec23ip A G 7: 128,379,057 (GRCm39) D838G probably benign Het
Setbp1 T C 18: 78,902,276 (GRCm39) I464V probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Slc41a3 A T 6: 90,617,904 (GRCm39) H310L probably benign Het
Smurf1 A G 5: 144,828,268 (GRCm39) S363P probably benign Het
Tln1 C T 4: 43,543,509 (GRCm39) R1269Q probably benign Het
Tmed3 A G 9: 89,586,951 (GRCm39) S10P probably benign Het
Tomm70a T G 16: 56,960,985 (GRCm39) Y313D probably damaging Het
Umodl1 A G 17: 31,207,039 (GRCm39) E810G probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Unc5d T A 8: 29,209,824 (GRCm39) Y432F probably benign Het
Vmn2r97 A T 17: 19,168,337 (GRCm39) probably benign Het
Zfp629 T C 7: 127,211,110 (GRCm39) Y233C probably damaging Het
Zfp986 T C 4: 145,619,088 (GRCm39) probably null Het
Other mutations in Pnn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02267:Pnn APN 12 59,116,995 (GRCm39) missense probably damaging 1.00
R0350:Pnn UTSW 12 59,113,903 (GRCm39) critical splice donor site probably null
R1853:Pnn UTSW 12 59,118,399 (GRCm39) missense probably damaging 0.99
R1854:Pnn UTSW 12 59,118,399 (GRCm39) missense probably damaging 0.99
R4792:Pnn UTSW 12 59,118,991 (GRCm39) missense possibly damaging 0.86
R4812:Pnn UTSW 12 59,118,404 (GRCm39) missense possibly damaging 0.94
R4933:Pnn UTSW 12 59,117,013 (GRCm39) missense probably damaging 1.00
R5541:Pnn UTSW 12 59,118,716 (GRCm39) missense possibly damaging 0.50
R5716:Pnn UTSW 12 59,118,658 (GRCm39) missense probably benign 0.00
R5781:Pnn UTSW 12 59,118,605 (GRCm39) missense probably damaging 0.99
R5963:Pnn UTSW 12 59,114,617 (GRCm39) nonsense probably null
R6877:Pnn UTSW 12 59,115,553 (GRCm39) missense probably damaging 1.00
R6999:Pnn UTSW 12 59,117,085 (GRCm39) critical splice donor site probably null
R7372:Pnn UTSW 12 59,115,765 (GRCm39) missense probably damaging 1.00
R7458:Pnn UTSW 12 59,119,200 (GRCm39) missense unknown
R7535:Pnn UTSW 12 59,118,923 (GRCm39) missense probably benign 0.00
R8171:Pnn UTSW 12 59,117,223 (GRCm39) missense probably damaging 1.00
R8264:Pnn UTSW 12 59,119,363 (GRCm39) missense unknown
R9246:Pnn UTSW 12 59,116,929 (GRCm39) missense probably damaging 1.00
R9404:Pnn UTSW 12 59,118,758 (GRCm39) missense probably damaging 0.99
R9579:Pnn UTSW 12 59,117,030 (GRCm39) missense possibly damaging 0.72
Z1177:Pnn UTSW 12 59,119,585 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AATCTCTTTCTCCTGGAAAAGAGA -3'
(R):5'- ATCTCGGTTATGTCCTCGGC -3'

Sequencing Primer
(F):5'- TTCTCAGGAAGTGGAAAAGGAGTCTG -3'
(R):5'- TAGAGCTGCTACTGGAACTACTGC -3'
Posted On 2015-06-20