Incidental Mutation 'R4329:Palm'
ID 324533
Institutional Source Beutler Lab
Gene Symbol Palm
Ensembl Gene ENSMUSG00000035863
Gene Name paralemmin
Synonyms
MMRRC Submission 041663-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4329 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79629406-79656730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79643520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 83 (G83S)
Ref Sequence ENSEMBL: ENSMUSP00000101018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046945] [ENSMUST00000105379] [ENSMUST00000218631]
AlphaFold Q9Z0P4
Predicted Effect probably benign
Transcript: ENSMUST00000046945
AA Change: G83S

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
AA Change: G83S

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:Paralemmin 71 383 4.2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105379
AA Change: G83S

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863
AA Change: G83S

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:Paralemmin 70 339 1.5e-123 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217759
Predicted Effect probably benign
Transcript: ENSMUST00000218631
AA Change: G83S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219711
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 96% (68/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C A 5: 113,243,455 (GRCm39) probably null Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Ampd2 C A 3: 107,985,103 (GRCm39) probably benign Het
Ang2 A T 14: 51,433,325 (GRCm39) I19N possibly damaging Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
Cacna1s A C 1: 136,046,771 (GRCm39) D1819A probably benign Het
Cand2 C A 6: 115,776,949 (GRCm39) H1112Q possibly damaging Het
Catsperd T A 17: 56,961,517 (GRCm39) I413K possibly damaging Het
Ccdc142 T A 6: 83,083,997 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Celsr3 C T 9: 108,723,248 (GRCm39) R2847C probably benign Het
Cep290 C T 10: 100,373,530 (GRCm39) S1270L probably damaging Het
Chka T C 19: 3,925,803 (GRCm39) probably benign Het
Cntnap5b T A 1: 99,999,888 (GRCm39) D215E probably damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Cspg4 T C 9: 56,799,749 (GRCm39) F1539L probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Dchs1 A T 7: 105,402,966 (GRCm39) I3192N probably damaging Het
Dnah7c T A 1: 46,688,441 (GRCm39) D1870E probably benign Het
Drc1 A T 5: 30,513,002 (GRCm39) I359L probably benign Het
Esp1 A G 17: 41,039,768 (GRCm39) M18V probably benign Het
Exoc1 T A 5: 76,715,822 (GRCm39) F789L probably damaging Het
Fbxw22 T A 9: 109,213,111 (GRCm39) T279S probably damaging Het
Frem1 G A 4: 82,904,774 (GRCm39) A880V probably benign Het
Gm29514 A G 1: 146,296,429 (GRCm39) noncoding transcript Het
Grm7 T C 6: 110,891,325 (GRCm39) L186P probably damaging Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Klk4 A G 7: 43,533,830 (GRCm39) D202G probably damaging Het
Marchf6 C T 15: 31,498,887 (GRCm39) E137K probably benign Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,861 (GRCm39) Y808N probably damaging Het
Myom1 C T 17: 71,343,348 (GRCm39) L182F probably damaging Het
Nova1 A T 12: 46,767,615 (GRCm39) I102N unknown Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Patl2 C T 2: 121,958,018 (GRCm39) S80N probably benign Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Pdgfrb A T 18: 61,204,792 (GRCm39) I551F possibly damaging Het
Pkmyt1 T A 17: 23,951,709 (GRCm39) Y88N probably damaging Het
Pnkp T C 7: 44,508,018 (GRCm39) S114P probably benign Het
Rdm1 T A 11: 101,521,734 (GRCm39) V92E probably damaging Het
Sema4d T C 13: 51,857,340 (GRCm39) R631G probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Skint9 A C 4: 112,249,062 (GRCm39) L122R probably damaging Het
Slc16a13 T C 11: 70,108,723 (GRCm39) N369S probably benign Het
Strada A G 11: 106,077,999 (GRCm39) probably benign Het
Tnxb C A 17: 34,912,838 (GRCm39) S1784Y probably damaging Het
Trpc2 T C 7: 101,736,727 (GRCm39) V318A probably damaging Het
Ttc3 G A 16: 94,267,820 (GRCm39) R1589H probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Unc5b A G 10: 60,618,969 (GRCm39) Y58H probably damaging Het
Xylt1 G A 7: 117,255,684 (GRCm39) G752D probably damaging Het
Yipf7 A T 5: 69,678,465 (GRCm39) L55Q probably damaging Het
Zfp827 G A 8: 79,916,463 (GRCm39) probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) probably benign Het
Other mutations in Palm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Palm APN 10 79,652,621 (GRCm39) splice site probably benign
IGL03080:Palm APN 10 79,654,951 (GRCm39) missense probably damaging 1.00
IGL03143:Palm APN 10 79,652,617 (GRCm39) splice site probably benign
R0681:Palm UTSW 10 79,655,327 (GRCm39) missense probably benign 0.35
R1476:Palm UTSW 10 79,651,021 (GRCm39) missense possibly damaging 0.50
R1534:Palm UTSW 10 79,652,737 (GRCm39) missense probably damaging 1.00
R3439:Palm UTSW 10 79,652,618 (GRCm39) splice site probably benign
R4327:Palm UTSW 10 79,643,520 (GRCm39) missense probably benign 0.31
R4328:Palm UTSW 10 79,643,520 (GRCm39) missense probably benign 0.31
R6586:Palm UTSW 10 79,645,365 (GRCm39) missense probably benign 0.07
R7341:Palm UTSW 10 79,652,697 (GRCm39) missense probably damaging 0.98
R7977:Palm UTSW 10 79,629,539 (GRCm39) start gained probably benign
R7987:Palm UTSW 10 79,629,539 (GRCm39) start gained probably benign
R8253:Palm UTSW 10 79,643,511 (GRCm39) nonsense probably null
R8496:Palm UTSW 10 79,642,485 (GRCm39) missense probably benign 0.33
R9098:Palm UTSW 10 79,654,988 (GRCm39) missense probably benign 0.03
R9682:Palm UTSW 10 79,655,039 (GRCm39) missense possibly damaging 0.90
R9717:Palm UTSW 10 79,655,117 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTGACCTGAGTCCCGATTCTAAC -3'
(R):5'- TCACACCTGCTCCTGTGTAG -3'

Sequencing Primer
(F):5'- GAGTCCCGATTCTAACTTTGCC -3'
(R):5'- CACCTGCTCCTGTGTAGGGATG -3'
Posted On 2015-06-24