Incidental Mutation 'IGL02889:Prima1'
ID 363119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prima1
Ensembl Gene ENSMUSG00000041669
Gene Name proline rich membrane anchor 1
Synonyms B230212M13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02889
Quality Score
Status
Chromosome 12
Chromosomal Location 103163167-103208409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103163575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 132 (V132A)
Ref Sequence ENSEMBL: ENSMUSP00000074017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074416] [ENSMUST00000127843] [ENSMUST00000156176]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074416
AA Change: V132A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000074017
Gene: ENSMUSG00000041669
AA Change: V132A

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:PRIMA1 37 153 2.5e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123655
Predicted Effect probably benign
Transcript: ENSMUST00000127843
SMART Domains Protein: ENSMUSP00000114309
Gene: ENSMUSG00000041669

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 55 78 N/A INTRINSIC
transmembrane domain 93 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156176
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to organophosphorus AChE inhibitors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 C T 10: 77,149,375 (GRCm39) V371I probably benign Het
Amdhd2 A G 17: 24,376,761 (GRCm39) L308P probably damaging Het
Antxr2 G T 5: 98,125,509 (GRCm39) H249Q probably benign Het
Arg1 A T 10: 24,791,653 (GRCm39) M276K probably damaging Het
Bloc1s6 T C 2: 122,584,604 (GRCm39) Y60H probably damaging Het
Btnl9 A T 11: 49,069,604 (GRCm39) V225E probably damaging Het
Col1a1 T C 11: 94,842,335 (GRCm39) Y1418H unknown Het
Ct45a C A X: 55,592,551 (GRCm39) K19N probably damaging Het
Dhx57 A T 17: 80,554,581 (GRCm39) I1162K possibly damaging Het
Dmgdh T C 13: 93,852,185 (GRCm39) probably null Het
Ear10 A G 14: 44,160,726 (GRCm39) F34L probably damaging Het
Fli1 A G 9: 32,376,992 (GRCm39) I92T probably damaging Het
Fpgs G A 2: 32,575,891 (GRCm39) probably benign Het
Glp1r T A 17: 31,150,118 (GRCm39) probably benign Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Ifitm3 C T 7: 140,589,792 (GRCm39) R87Q probably damaging Het
Ints3 G T 3: 90,300,143 (GRCm39) H925N probably damaging Het
Itgb4 T A 11: 115,879,731 (GRCm39) C628S probably damaging Het
Itprid1 A T 6: 55,878,443 (GRCm39) D402V possibly damaging Het
Kcnh3 A T 15: 99,124,991 (GRCm39) E147V probably null Het
Krtap19-4 T C 16: 88,681,944 (GRCm39) Y4C unknown Het
Lrp2 A T 2: 69,382,794 (GRCm39) S30R possibly damaging Het
Or11g27 A G 14: 50,770,970 (GRCm39) I34V probably benign Het
Or8g2b A G 9: 39,751,533 (GRCm39) M268V probably benign Het
Psme1 A G 14: 55,817,383 (GRCm39) probably benign Het
Rab11fip3 C A 17: 26,286,653 (GRCm39) R500L possibly damaging Het
Rnf40 C A 7: 127,190,601 (GRCm39) S255* probably null Het
Sebox T C 11: 78,395,156 (GRCm39) V166A probably benign Het
Spata24 C A 18: 35,789,805 (GRCm39) R194L probably benign Het
Spata31h1 C T 10: 82,119,654 (GRCm39) S482N probably damaging Het
Tbx4 T A 11: 85,790,621 (GRCm39) Y154* probably null Het
Trim24 G A 6: 37,934,696 (GRCm39) E768K probably benign Het
Ttn A G 2: 76,562,304 (GRCm39) V28847A possibly damaging Het
Utp6 T A 11: 79,839,896 (GRCm39) Q264L possibly damaging Het
Vim A G 2: 13,585,491 (GRCm39) R424G probably damaging Het
Vmn1r216 A C 13: 23,283,649 (GRCm39) T111P probably damaging Het
Wnt11 G A 7: 98,499,566 (GRCm39) A244T probably damaging Het
Zbtb26 A C 2: 37,326,261 (GRCm39) N247K probably benign Het
Zfp629 T G 7: 127,209,203 (GRCm39) probably benign Het
Other mutations in Prima1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Prima1 APN 12 103,169,047 (GRCm39) splice site probably null
IGL02867:Prima1 APN 12 103,163,575 (GRCm39) missense probably benign 0.01
R0566:Prima1 UTSW 12 103,163,573 (GRCm39) missense probably benign 0.01
R1585:Prima1 UTSW 12 103,201,854 (GRCm39) missense probably damaging 0.96
R2135:Prima1 UTSW 12 103,168,949 (GRCm39) missense probably damaging 1.00
R5057:Prima1 UTSW 12 103,168,864 (GRCm39) splice site probably null
R5605:Prima1 UTSW 12 103,166,163 (GRCm39) missense probably benign 0.01
R6850:Prima1 UTSW 12 103,163,594 (GRCm39) missense probably benign 0.41
R7577:Prima1 UTSW 12 103,163,566 (GRCm39) missense probably damaging 1.00
R7671:Prima1 UTSW 12 103,201,920 (GRCm39) missense probably damaging 0.98
R8559:Prima1 UTSW 12 103,163,512 (GRCm39) missense possibly damaging 0.92
Posted On 2015-12-18