Incidental Mutation 'R6580:Palm3'
ID 524088
Institutional Source Beutler Lab
Gene Symbol Palm3
Ensembl Gene ENSMUSG00000047986
Gene Name paralemmin 3
Synonyms 4432412L15Rik
MMRRC Submission 044704-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6580 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84748100-84756924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84756177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 563 (E563G)
Ref Sequence ENSEMBL: ENSMUSP00000051396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005601] [ENSMUST00000055077]
AlphaFold A2TJV2
Predicted Effect probably benign
Transcript: ENSMUST00000005601
SMART Domains Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:FN3 31 101 2e-6 BLAST
FN3 123 210 3.85e-3 SMART
FN3 314 396 3.78e0 SMART
Blast:FN3 411 492 4e-36 BLAST
low complexity region 516 532 N/A INTRINSIC
low complexity region 584 596 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000055077
AA Change: E563G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051396
Gene: ENSMUSG00000047986
AA Change: E563G

DomainStartEndE-ValueType
coiled coil region 19 64 N/A INTRINSIC
low complexity region 69 81 N/A INTRINSIC
coiled coil region 90 116 N/A INTRINSIC
low complexity region 167 178 N/A INTRINSIC
low complexity region 248 261 N/A INTRINSIC
low complexity region 277 293 N/A INTRINSIC
low complexity region 337 349 N/A INTRINSIC
low complexity region 399 416 N/A INTRINSIC
low complexity region 635 647 N/A INTRINSIC
low complexity region 707 720 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210245
Meta Mutation Damage Score 0.1259 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 97% (32/33)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,386 (GRCm39) R525H probably benign Het
Acox3 T A 5: 35,765,747 (GRCm39) L600Q probably damaging Het
Ankrd49 A G 9: 14,692,694 (GRCm39) S157P probably damaging Het
Ccdc141 A G 2: 76,842,099 (GRCm39) F1444S possibly damaging Het
Cimap2 G T 4: 106,468,711 (GRCm39) H271N possibly damaging Het
Defb28 C T 2: 152,360,215 (GRCm39) S10L possibly damaging Het
Epha6 T G 16: 59,502,979 (GRCm39) N976T probably damaging Het
Gm45861 A G 8: 28,034,979 (GRCm39) K976E unknown Het
Gtf2ird1 T G 5: 134,389,893 (GRCm39) N920H probably damaging Het
Gtf3c1 A T 7: 125,243,519 (GRCm39) M1695K probably benign Het
Hfm1 C T 5: 106,995,575 (GRCm39) E1279K probably benign Het
Il31ra C T 13: 112,688,476 (GRCm39) D34N possibly damaging Het
Klhl3 T A 13: 58,166,701 (GRCm39) I430F possibly damaging Het
Mfhas1 A G 8: 36,056,419 (GRCm39) Y298C probably damaging Het
Muc20 A T 16: 32,613,859 (GRCm39) M506K possibly damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Naip1 T A 13: 100,581,157 (GRCm39) D30V probably damaging Het
Nol9 A G 4: 152,136,218 (GRCm39) N430S probably benign Het
Or8b44 T C 9: 38,410,319 (GRCm39) M118T probably damaging Het
Pcdhga4 A G 18: 37,820,370 (GRCm39) S640G possibly damaging Het
Pi4ka A G 16: 17,168,694 (GRCm39) F679L probably damaging Het
Pierce1 A G 2: 28,356,062 (GRCm39) W74R probably damaging Het
Polr3c A G 3: 96,634,659 (GRCm39) probably null Het
Ptdss2 T A 7: 140,732,925 (GRCm39) I236N probably damaging Het
Rapgef1 A G 2: 29,620,621 (GRCm39) Y879C possibly damaging Het
Shc3 T C 13: 51,596,809 (GRCm39) T405A probably benign Het
Smtnl2 G T 11: 72,293,859 (GRCm39) S232R probably benign Het
Taar8a G A 10: 23,952,791 (GRCm39) A132T probably damaging Het
Tex47 T C 5: 7,355,212 (GRCm39) I131T probably damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r63 A G 7: 5,805,913 (GRCm39) S240P probably benign Het
Vmn2r130 T C 17: 23,282,740 (GRCm39) V140A probably benign Het
Vmn2r84 A G 10: 130,225,110 (GRCm39) W467R possibly damaging Het
Zscan12 T C 13: 21,553,328 (GRCm39) L384P probably damaging Het
Other mutations in Palm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Palm3 APN 8 84,756,074 (GRCm39) missense possibly damaging 0.90
IGL02634:Palm3 APN 8 84,755,494 (GRCm39) missense probably damaging 0.99
IGL02710:Palm3 APN 8 84,754,941 (GRCm39) missense possibly damaging 0.75
R0277:Palm3 UTSW 8 84,755,349 (GRCm39) missense probably damaging 1.00
R0323:Palm3 UTSW 8 84,755,349 (GRCm39) missense probably damaging 1.00
R0422:Palm3 UTSW 8 84,755,492 (GRCm39) missense possibly damaging 0.94
R0507:Palm3 UTSW 8 84,754,958 (GRCm39) missense probably benign 0.00
R0835:Palm3 UTSW 8 84,754,776 (GRCm39) missense probably benign
R1037:Palm3 UTSW 8 84,755,901 (GRCm39) missense probably benign
R1618:Palm3 UTSW 8 84,756,291 (GRCm39) missense possibly damaging 0.92
R1621:Palm3 UTSW 8 84,756,651 (GRCm39) missense possibly damaging 0.93
R1797:Palm3 UTSW 8 84,755,432 (GRCm39) missense probably benign 0.00
R1989:Palm3 UTSW 8 84,756,651 (GRCm39) missense possibly damaging 0.93
R3618:Palm3 UTSW 8 84,755,973 (GRCm39) missense probably benign 0.00
R3619:Palm3 UTSW 8 84,755,973 (GRCm39) missense probably benign 0.00
R4495:Palm3 UTSW 8 84,753,495 (GRCm39) missense probably damaging 1.00
R4588:Palm3 UTSW 8 84,756,015 (GRCm39) missense probably benign 0.20
R4687:Palm3 UTSW 8 84,756,564 (GRCm39) missense probably benign 0.00
R4948:Palm3 UTSW 8 84,753,708 (GRCm39) nonsense probably null
R5265:Palm3 UTSW 8 84,748,159 (GRCm39) critical splice donor site probably null
R5951:Palm3 UTSW 8 84,756,049 (GRCm39) missense probably benign 0.02
R7237:Palm3 UTSW 8 84,756,117 (GRCm39) missense probably benign 0.00
R7562:Palm3 UTSW 8 84,748,136 (GRCm39) missense possibly damaging 0.87
R7676:Palm3 UTSW 8 84,756,074 (GRCm39) missense possibly damaging 0.90
R7923:Palm3 UTSW 8 84,756,090 (GRCm39) missense probably benign
R8118:Palm3 UTSW 8 84,756,438 (GRCm39) missense probably damaging 1.00
R8680:Palm3 UTSW 8 84,756,504 (GRCm39) missense probably damaging 1.00
R9500:Palm3 UTSW 8 84,753,636 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTGAGAAGCCATTGGTGACAG -3'
(R):5'- ACAAACAGTGGCTCCTGGTG -3'

Sequencing Primer
(F):5'- GAAGTGAGATGCCATTGG -3'
(R):5'- TCCTGGTGGGCTGGCATC -3'
Posted On 2018-06-22