Incidental Mutation 'IGL02870:Peli2'
ID362530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Peli2
Ensembl Gene ENSMUSG00000021846
Gene Namepellino 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL02870
Quality Score
Status
Chromosome14
Chromosomal Location48120823-48281575 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 48256265 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 315 (V315M)
Ref Sequence ENSEMBL: ENSMUSP00000072894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073150] [ENSMUST00000226828] [ENSMUST00000227362]
Predicted Effect probably damaging
Transcript: ENSMUST00000073150
AA Change: V315M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: V315M

DomainStartEndE-ValueType
Pfam:Pellino 10 419 1.2e-223 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226828
Predicted Effect probably benign
Transcript: ENSMUST00000227362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228519
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,563,732 V1042M probably benign Het
Agmat C A 4: 141,746,942 H45N probably benign Het
Akap13 T A 7: 75,609,188 V520D probably damaging Het
Ccser1 T A 6: 61,311,292 N146K probably damaging Het
Cdhr4 T A 9: 107,998,064 probably null Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Cyp3a59 T C 5: 146,098,184 I224T probably benign Het
Ddx19a G T 8: 110,983,626 P114Q probably damaging Het
Eftud2 A G 11: 102,862,626 V275A probably damaging Het
Fgd6 T C 10: 94,045,164 S627P probably damaging Het
Flywch1 C T 17: 23,755,902 G541D probably damaging Het
Grk2 T C 19: 4,290,402 D317G probably damaging Het
H2-M5 T C 17: 36,989,033 E83G probably benign Het
Hltf T C 3: 20,099,873 F658L probably damaging Het
Hmmr G T 11: 40,714,075 Q390K possibly damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Nsd1 A T 13: 55,313,603 T2548S probably benign Het
Olfr341 G A 2: 36,480,031 A33V probably benign Het
P3h1 C T 4: 119,247,571 R684W probably damaging Het
Pfkl T A 10: 78,000,839 K115* probably null Het
Plcxd1 A G 5: 110,101,405 T33A probably damaging Het
Ranbp17 A G 11: 33,243,262 S931P probably damaging Het
Retsat T C 6: 72,607,024 Y500H probably damaging Het
Rfx8 C T 1: 39,683,711 V249I possibly damaging Het
Runx1t1 A T 4: 13,889,867 I599L unknown Het
Sardh A T 2: 27,235,491 I337N possibly damaging Het
Serpinb7 A T 1: 107,450,287 M237L probably damaging Het
Slc35f1 A G 10: 52,933,207 S97G possibly damaging Het
Stab1 T C 14: 31,139,397 D2520G probably benign Het
Tnfrsf11b C T 15: 54,256,027 V184M probably benign Het
Trpv4 A T 5: 114,625,056 V764E probably damaging Het
Tsc22d1 C A 14: 76,417,617 A430E probably benign Het
Ttn T C 2: 76,750,605 R23315G probably damaging Het
Txnrd1 A G 10: 82,895,979 I478M probably benign Het
Ush2a T C 1: 188,678,358 V2401A probably benign Het
Vill T C 9: 119,061,899 L191P probably damaging Het
Vmn1r30 A G 6: 58,435,370 V159A probably benign Het
Washc4 T A 10: 83,585,876 N939K probably benign Het
Wdfy3 A G 5: 101,855,471 V2926A probably damaging Het
Wdr7 T C 18: 63,791,843 S966P probably benign Het
Zfp12 C A 5: 143,245,331 T471N probably damaging Het
Other mutations in Peli2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Peli2 APN 14 48252730 nonsense probably null
IGL01466:Peli2 APN 14 48256457 missense probably damaging 1.00
IGL01810:Peli2 APN 14 48256034 missense probably benign 0.00
IGL02379:Peli2 APN 14 48168298 missense probably damaging 1.00
IGL02959:Peli2 APN 14 48240297 missense probably benign 0.35
IGL03328:Peli2 APN 14 48252575 critical splice acceptor site probably null
PIT4378001:Peli2 UTSW 14 48168269 nonsense probably null
R0046:Peli2 UTSW 14 48121202 missense possibly damaging 0.88
R1545:Peli2 UTSW 14 48252717 missense probably benign 0.32
R2027:Peli2 UTSW 14 48256145 missense probably benign 0.25
R2437:Peli2 UTSW 14 48227932 intron probably benign
R5481:Peli2 UTSW 14 48252633 missense probably damaging 1.00
R5750:Peli2 UTSW 14 48256175 missense possibly damaging 0.95
R5831:Peli2 UTSW 14 48168270 missense probably damaging 0.99
R6154:Peli2 UTSW 14 48250594 nonsense probably null
R6445:Peli2 UTSW 14 48256448 missense possibly damaging 0.48
R6712:Peli2 UTSW 14 48250594 missense probably benign 0.30
R7469:Peli2 UTSW 14 48250558 missense probably benign
R7685:Peli2 UTSW 14 48280034 missense not run
Posted On2015-12-18