Incidental Mutation 'IGL02167:Prrt1'
ID282759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prrt1
Ensembl Gene ENSMUSG00000015476
Gene Nameproline-rich transmembrane protein 1
SynonymsNG5, G5b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02167
Quality Score
Status
Chromosome17
Chromosomal Location34629533-34633126 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 34631855 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 215 (E215A)
Ref Sequence ENSEMBL: ENSMUSP00000015620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015620] [ENSMUST00000064953] [ENSMUST00000166040] [ENSMUST00000167097] [ENSMUST00000168391] [ENSMUST00000169067] [ENSMUST00000169287] [ENSMUST00000170345] [ENSMUST00000171121] [ENSMUST00000171376]
Predicted Effect possibly damaging
Transcript: ENSMUST00000015620
AA Change: E215A

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000015620
Gene: ENSMUSG00000015476
AA Change: E215A

DomainStartEndE-ValueType
low complexity region 17 38 N/A INTRINSIC
low complexity region 41 49 N/A INTRINSIC
low complexity region 57 79 N/A INTRINSIC
low complexity region 84 100 N/A INTRINSIC
low complexity region 121 144 N/A INTRINSIC
Pfam:CD225 214 286 3.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064953
SMART Domains Protein: ENSMUSP00000068071
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:Palm_thioest 34 297 2.2e-19 PFAM
Pfam:Abhydrolase_6 39 273 2.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166040
SMART Domains Protein: ENSMUSP00000132006
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:Palm_thioest 34 289 9e-19 PFAM
Pfam:Abhydrolase_1 37 173 9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167097
SMART Domains Protein: ENSMUSP00000125937
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:Palm_thioest 34 236 7.7e-12 PFAM
Pfam:Abhydrolase_6 39 236 2.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168391
SMART Domains Protein: ENSMUSP00000132339
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:Palm_thioest 34 297 2.2e-19 PFAM
Pfam:Abhydrolase_6 39 273 2.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168709
Predicted Effect probably benign
Transcript: ENSMUST00000169067
SMART Domains Protein: ENSMUSP00000127372
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:Palm_thioest 34 297 2.2e-19 PFAM
Pfam:Abhydrolase_6 39 273 2.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169287
SMART Domains Protein: ENSMUSP00000129421
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
PDB:1PJA|A 1 102 2e-42 PDB
SCOP:d1fj2a_ 29 91 7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169969
SMART Domains Protein: ENSMUSP00000127726
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
Pfam:Abhydrolase_1 18 139 9e-8 PFAM
Pfam:Palm_thioest 116 234 1.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170345
SMART Domains Protein: ENSMUSP00000127707
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:Palm_thioest 33 203 1.6e-9 PFAM
Pfam:Abhydrolase_6 39 201 2.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171121
SMART Domains Protein: ENSMUSP00000127745
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:Palm_thioest 34 297 2.2e-19 PFAM
Pfam:Abhydrolase_6 39 273 2.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171376
SMART Domains Protein: ENSMUSP00000131243
Gene: ENSMUSG00000015474

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:Palm_thioest 34 297 2.2e-19 PFAM
Pfam:Abhydrolase_6 39 273 2.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172945
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced mEPSC, reduced LTP, impaired spatial learning, decreased object recognition and increased exploration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,722 probably benign Het
Cacna1f T C X: 7,616,019 Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 R1416H probably damaging Het
Ccdc117 T C 11: 5,531,333 E266G possibly damaging Het
Ccdc9 A T 7: 16,284,359 L8* probably null Het
Cited2 T C 10: 17,724,270 S109P probably benign Het
Cnot4 T C 6: 35,056,224 D286G possibly damaging Het
Col5a1 T C 2: 28,018,556 I52T probably benign Het
Cry2 T C 2: 92,433,821 N68S possibly damaging Het
Cul4a T C 8: 13,122,826 F153S probably damaging Het
Ddr1 T C 17: 35,690,071 S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 probably benign Het
Epha8 A T 4: 136,931,094 M990K probably damaging Het
Gpr137c G T 14: 45,279,955 G383C probably damaging Het
Hydin T A 8: 110,418,423 I802N possibly damaging Het
Ifne A G 4: 88,879,828 Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 probably benign Het
Lig4 T A 8: 9,971,821 N653I probably benign Het
Nagk A G 6: 83,801,106 D246G probably damaging Het
Nav1 A G 1: 135,470,961 S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 probably benign Het
Nynrin G T 14: 55,863,335 R194L probably damaging Het
Olfr1115 G A 2: 87,252,198 C87Y probably benign Het
Olfr17 A T 7: 107,097,661 R65S probably benign Het
Olfr45 T A 7: 140,691,751 V282D probably damaging Het
Orc2 A T 1: 58,483,639 probably benign Het
Oxgr1 T A 14: 120,021,930 R288S probably damaging Het
Prkcg T C 7: 3,322,581 probably null Het
Prox1 T C 1: 190,161,280 N323D probably benign Het
Rab2b T C 14: 52,268,696 D103G probably damaging Het
Sardh G T 2: 27,191,975 N846K probably damaging Het
Slc38a8 T A 8: 119,487,360 T248S probably benign Het
Slc6a18 T C 13: 73,666,472 probably null Het
Smcp T C 3: 92,584,199 T114A unknown Het
Tmem8 T C 17: 26,119,071 S450P probably damaging Het
Trpv1 A G 11: 73,254,797 N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 H243L probably benign Het
Wdfy3 T C 5: 101,961,157 M125V probably damaging Het
Wnk2 T C 13: 49,071,125 probably null Het
Wrn T C 8: 33,317,555 M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 H97R probably damaging Het
Zfp68 T A 5: 138,606,367 M565L probably benign Het
Zfp687 T C 3: 95,010,530 T644A probably benign Het
Zfp777 C T 6: 48,044,526 G54D probably damaging Het
Other mutations in Prrt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1872:Prrt1 UTSW 17 34630951 missense probably damaging 1.00
R5789:Prrt1 UTSW 17 34631957 critical splice donor site probably null
R7139:Prrt1 UTSW 17 34631077 missense probably benign 0.04
R7215:Prrt1 UTSW 17 34629703 splice site probably null
R7325:Prrt1 UTSW 17 34632187 missense possibly damaging 0.95
Posted On2015-04-16