Incidental Mutation 'R6850:Prima1'
ID 535613
Institutional Source Beutler Lab
Gene Symbol Prima1
Ensembl Gene ENSMUSG00000041669
Gene Name proline rich membrane anchor 1
Synonyms B230212M13Rik
MMRRC Submission 044954-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6850 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 103163167-103208409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103163594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 126 (D126N)
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: D126N

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074017
Gene: ENSMUSG00000041669
AA Change: D126N

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:PRIMA1 37 153 2.5e-64 PFAM
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,270,318 (GRCm39) M927V probably benign Het
Agr2 A G 12: 36,045,558 (GRCm39) I15V probably benign Het
Alpk1 A G 3: 127,523,012 (GRCm39) I10T possibly damaging Het
Art5 A G 7: 101,747,302 (GRCm39) V159A possibly damaging Het
Asz1 G A 6: 18,108,942 (GRCm39) R32W probably benign Het
Atp8b1 A C 18: 64,689,923 (GRCm39) M603R possibly damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Car9 A G 4: 43,507,321 (GRCm39) E3G probably damaging Het
Cpne3 A T 4: 19,535,231 (GRCm39) I267N possibly damaging Het
Cyp2c65 T A 19: 39,057,535 (GRCm39) F57I probably benign Het
D430041D05Rik T C 2: 104,031,604 (GRCm39) K980R probably damaging Het
Dnhd1 G T 7: 105,369,137 (GRCm39) G4303W possibly damaging Het
Dnmt3a A G 12: 3,947,600 (GRCm39) N485D probably benign Het
Dusp4 A T 8: 35,283,651 (GRCm39) K166* probably null Het
Ect2 T C 3: 27,193,034 (GRCm39) D344G probably damaging Het
Eif2b1 T C 5: 124,717,069 (GRCm39) D3G probably benign Het
Ermp1 A G 19: 29,594,041 (GRCm39) Y710H probably damaging Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
H2-T10 A G 17: 36,430,152 (GRCm39) L263P probably damaging Het
Iqcn A T 8: 71,163,425 (GRCm39) N873Y probably damaging Het
Itga7 A T 10: 128,781,385 (GRCm39) I621F probably damaging Het
Kcna3 A T 3: 106,944,475 (GRCm39) D246V probably damaging Het
Kctd12 C T 14: 103,219,414 (GRCm39) G155S probably benign Het
Lrtm1 T C 14: 28,749,407 (GRCm39) V256A probably benign Het
Mcf2l T C 8: 13,059,476 (GRCm39) F629L possibly damaging Het
Mphosph9 A G 5: 124,399,019 (GRCm39) F999L probably damaging Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Obscn C T 11: 58,958,950 (GRCm39) V3643M possibly damaging Het
Obscn C T 11: 58,892,955 (GRCm39) A6764T possibly damaging Het
Or4c102 T A 2: 88,422,650 (GRCm39) C167* probably null Het
Or8g18 T C 9: 39,149,271 (GRCm39) I150V probably benign Het
Pdhx T C 2: 102,871,445 (GRCm39) H195R probably damaging Het
Pdilt A T 7: 119,086,182 (GRCm39) V511E probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prune2 C A 19: 17,099,552 (GRCm39) D1685E probably benign Het
Ptgs2 A T 1: 149,981,291 (GRCm39) I525F probably damaging Het
Rab11fip2 A T 19: 59,925,441 (GRCm39) F259I possibly damaging Het
Ranbp3l C A 15: 9,058,808 (GRCm39) D216E probably damaging Het
Scn5a A T 9: 119,330,815 (GRCm39) L1240Q possibly damaging Het
Sohlh2 A T 3: 55,099,707 (GRCm39) T160S probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spata31h1 A C 10: 82,128,888 (GRCm39) M1374R possibly damaging Het
Tank A G 2: 61,480,346 (GRCm39) E294G probably benign Het
Tars1 T A 15: 11,392,885 (GRCm39) Y187F probably benign Het
Tas2r144 T A 6: 42,192,857 (GRCm39) M199K possibly damaging Het
Tdrd3 T C 14: 87,695,515 (GRCm39) probably benign Het
Tecta T A 9: 42,255,134 (GRCm39) D1683V probably benign Het
Tln2 A G 9: 67,165,817 (GRCm39) I2098T probably damaging Het
Tmie A G 9: 110,695,980 (GRCm39) I137T possibly damaging Het
Trim45 T A 3: 100,830,541 (GRCm39) L105* probably null Het
Trpv3 G A 11: 73,182,519 (GRCm39) G568S probably damaging Het
Wdr75 A G 1: 45,853,758 (GRCm39) T390A probably benign Het
Wdr97 A G 15: 76,241,996 (GRCm39) Y763C probably damaging Het
Zfp35 G A 18: 24,135,839 (GRCm39) R61H possibly damaging 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
IGL02889: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
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
Predicted Primers PCR Primer
(F):5'- AAGCACGAAGTCCTGGACAG -3'
(R):5'- TCCAGAACACTTCCATTCAGACTG -3'

Sequencing Primer
(F):5'- AGGCCCACGGTCAGCTC -3'
(R):5'- TAGCATGCCCTGGCCTGTATG -3'
Posted On 2018-09-12