Incidental Mutation 'IGL01983:Pram1'
ID183536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pram1
Ensembl Gene ENSMUSG00000032739
Gene NamePML-RAR alpha-regulated adaptor molecule 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01983
Quality Score
Status
Chromosome17
Chromosomal Location33638056-33645706 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 33640861 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 134 (A134D)
Ref Sequence ENSEMBL: ENSMUSP00000057065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052079] [ENSMUST00000116619]
Predicted Effect probably damaging
Transcript: ENSMUST00000052079
AA Change: A134D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057065
Gene: ENSMUSG00000032739
AA Change: A134D

DomainStartEndE-ValueType
internal_repeat_1 15 151 3.3e-6 PROSPERO
internal_repeat_1 237 378 3.3e-6 PROSPERO
low complexity region 393 404 N/A INTRINSIC
low complexity region 445 453 N/A INTRINSIC
low complexity region 458 471 N/A INTRINSIC
low complexity region 480 486 N/A INTRINSIC
SH3 581 655 1.09e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166215
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have neutrophils that exhibit decreased adhesion-dependent reactive oxygen intermediate production and degranulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,841,624 Q328* probably null Het
Alpk2 T C 18: 65,350,682 Y85C probably damaging Het
Arhgap31 C T 16: 38,601,765 R1313Q probably damaging Het
Chrnb1 G T 11: 69,795,729 R22S probably benign Het
Clec7a G A 6: 129,465,576 probably benign Het
Epb41l5 A G 1: 119,579,084 probably benign Het
Fam49b A G 15: 63,937,387 S251P probably benign Het
Gm10093 T A 17: 78,492,853 D424E probably benign Het
Hydin A C 8: 110,514,895 I2106L probably benign Het
Igkv3-5 T A 6: 70,663,686 D50E probably benign Het
Irf2bp1 G T 7: 19,005,295 A287S possibly damaging Het
Ldb3 G A 14: 34,577,199 S156L probably benign Het
Lnpep A T 17: 17,531,178 W942R probably damaging Het
Mst1r T A 9: 107,917,276 V1218D probably damaging Het
Naxd G T 8: 11,510,218 probably benign Het
Nol9 T C 4: 152,046,037 probably null Het
Nus1 T A 10: 52,436,657 L295Q probably damaging Het
Nxph2 A G 2: 23,399,934 I99M probably benign Het
Plekhg1 T A 10: 3,945,904 I432N probably damaging Het
Pon3 A G 6: 5,240,974 L69S probably damaging Het
Serpinb6c T A 13: 33,897,334 probably benign Het
Stk10 A T 11: 32,589,460 E280V probably benign Het
Tbc1d10c T A 19: 4,190,709 Q34L possibly damaging Het
Tnr G A 1: 159,863,779 V500I probably benign Het
Trim66 G A 7: 109,458,251 R992* probably null Het
Unc45b A G 11: 82,936,861 D728G probably benign Het
Usp13 A G 3: 32,917,459 D696G probably damaging Het
Utrn C T 10: 12,669,781 V1707I probably benign Het
Vmn2r96 A T 17: 18,597,265 H368L probably damaging Het
Xrn1 T C 9: 95,973,368 probably null Het
Zfhx3 C A 8: 108,947,234 L1639M probably damaging Het
Znfx1 A T 2: 167,056,350 V218E probably damaging Het
Other mutations in Pram1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Pram1 APN 17 33642135 missense possibly damaging 0.79
IGL01949:Pram1 APN 17 33641335 missense probably damaging 0.99
IGL03403:Pram1 APN 17 33642143 missense probably damaging 0.99
R0100:Pram1 UTSW 17 33641399 missense possibly damaging 0.56
R0412:Pram1 UTSW 17 33641506 missense probably benign 0.24
R1915:Pram1 UTSW 17 33641157 missense probably benign 0.34
R2216:Pram1 UTSW 17 33641284 missense probably benign 0.02
R4177:Pram1 UTSW 17 33641229 missense probably benign
R5007:Pram1 UTSW 17 33645437 missense probably damaging 1.00
R5077:Pram1 UTSW 17 33644904 nonsense probably null
R5381:Pram1 UTSW 17 33641626 missense probably damaging 1.00
R6063:Pram1 UTSW 17 33641412 nonsense probably null
Posted On2014-05-07