Incidental Mutation 'IGL02617:Prr27'
ID300694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prr27
Ensembl Gene ENSMUSG00000002240
Gene Nameproline rich 27
Synonyms4930432K09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02617
Quality Score
Status
Chromosome5
Chromosomal Location87825686-87846387 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87842659 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 43 (N43K)
Ref Sequence ENSEMBL: ENSMUSP00000098617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002310] [ENSMUST00000101056]
Predicted Effect probably benign
Transcript: ENSMUST00000002310
AA Change: N35K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002310
Gene: ENSMUSG00000002240
AA Change: N35K

DomainStartEndE-ValueType
low complexity region 49 57 N/A INTRINSIC
low complexity region 104 130 N/A INTRINSIC
low complexity region 137 153 N/A INTRINSIC
low complexity region 179 194 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101056
AA Change: N43K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098617
Gene: ENSMUSG00000002240
AA Change: N43K

DomainStartEndE-ValueType
low complexity region 57 65 N/A INTRINSIC
low complexity region 112 138 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
low complexity region 187 202 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197636
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,574,444 Q172* probably null Het
Adgrg5 A G 8: 94,933,982 D79G probably benign Het
Aga G A 8: 53,520,313 D249N possibly damaging Het
Aifm3 A G 16: 17,500,533 Q170R probably null Het
Cdh2 T A 18: 16,627,604 N512Y probably damaging Het
Chd8 A G 14: 52,235,191 I385T probably benign Het
Clic6 A G 16: 92,499,318 K289E probably benign Het
Ctcf G T 8: 105,677,210 probably benign Het
Fam129a T A 1: 151,571,545 S6T probably benign Het
Fam160a1 A T 3: 85,673,037 D620E probably benign Het
Fat1 T C 8: 45,035,591 Y3447H probably benign Het
Fmo2 T A 1: 162,876,921 Q472L probably damaging Het
Gcnt3 C A 9: 70,034,162 G375W probably damaging Het
Golga3 T A 5: 110,188,746 V417E probably benign Het
Hivep3 T C 4: 120,095,444 L319P probably benign Het
Kctd13 A G 7: 126,942,332 K248R possibly damaging Het
Magel2 G A 7: 62,380,198 R950H unknown Het
Nmt2 A G 2: 3,314,713 I247V probably benign Het
Olfr294 T G 7: 86,615,664 H327P probably benign Het
Olfr390 T A 11: 73,787,734 N265K probably benign Het
Pcdhb12 T C 18: 37,437,046 V415A probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sec24a A T 11: 51,712,187 probably null Het
Srek1ip1 C A 13: 104,837,476 H130Q possibly damaging Het
Trio C T 15: 27,841,849 probably benign Het
Ttn A G 2: 76,778,270 probably benign Het
Vmn2r65 C A 7: 84,940,341 S789I probably damaging Het
Zbtb17 A G 4: 141,465,088 Q448R probably damaging Het
Other mutations in Prr27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Prr27 APN 5 87843443 missense possibly damaging 0.90
IGL02995:Prr27 APN 5 87842816 missense probably benign
IGL03270:Prr27 APN 5 87835678 utr 5 prime probably benign
R0531:Prr27 UTSW 5 87842678 missense probably benign 0.02
R0637:Prr27 UTSW 5 87851146 unclassified probably benign
R1498:Prr27 UTSW 5 87850741 unclassified probably benign
R1599:Prr27 UTSW 5 87843225 missense probably benign 0.00
R1744:Prr27 UTSW 5 87843047 missense possibly damaging 0.46
R1980:Prr27 UTSW 5 87843402 missense probably benign 0.03
R4033:Prr27 UTSW 5 87843305 nonsense probably null
R4304:Prr27 UTSW 5 87842907 missense probably benign 0.00
R4306:Prr27 UTSW 5 87842907 missense probably benign 0.00
R4307:Prr27 UTSW 5 87842907 missense probably benign 0.00
R4308:Prr27 UTSW 5 87842907 missense probably benign 0.00
R4347:Prr27 UTSW 5 87842672 missense possibly damaging 0.46
R4675:Prr27 UTSW 5 87843241 missense possibly damaging 0.94
R4826:Prr27 UTSW 5 87850966 unclassified probably benign
R4908:Prr27 UTSW 5 87843029 missense probably benign 0.01
R5361:Prr27 UTSW 5 87843344 missense probably damaging 0.96
R5426:Prr27 UTSW 5 87850885 unclassified probably benign
R7268:Prr27 UTSW 5 87843276 missense probably damaging 0.99
Z1088:Prr27 UTSW 5 87842646 missense probably damaging 0.99
Posted On2015-04-16