Incidental Mutation 'R1534:Palm'
ID 166833
Institutional Source Beutler Lab
Gene Symbol Palm
Ensembl Gene ENSMUSG00000035863
Gene Name paralemmin
Synonyms
MMRRC Submission 039573-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1534 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79629406-79656730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 79652737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 42 (V42G)
Ref Sequence ENSEMBL: ENSMUSP00000151929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046945] [ENSMUST00000105379] [ENSMUST00000169041] [ENSMUST00000218631] [ENSMUST00000218857] [ENSMUST00000220365]
AlphaFold Q9Z0P4
Predicted Effect probably damaging
Transcript: ENSMUST00000046945
AA Change: V204G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
AA Change: V204G

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:Paralemmin 71 383 4.2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105379
SMART Domains Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:Paralemmin 70 339 1.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169041
SMART Domains Protein: ENSMUSP00000130071
Gene: ENSMUSG00000035852

DomainStartEndE-ValueType
low complexity region 262 284 N/A INTRINSIC
Pfam:AKAP2_C 294 643 1.7e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218631
Predicted Effect probably benign
Transcript: ENSMUST00000218857
Predicted Effect probably damaging
Transcript: ENSMUST00000220365
AA Change: V42G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.7356 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,345,881 (GRCm39) I310T probably damaging Het
Adcy5 T C 16: 35,073,629 (GRCm39) V469A possibly damaging Het
Agrn C T 4: 156,261,141 (GRCm39) C652Y probably damaging Het
Ankfn1 C T 11: 89,413,977 (GRCm39) V133M probably damaging Het
Ankrd13c A G 3: 157,706,757 (GRCm39) T448A probably benign Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
B4galt2 T C 4: 117,734,669 (GRCm39) H233R probably damaging Het
Bpifb5 T G 2: 154,071,419 (GRCm39) Y249D possibly damaging Het
Brd1 T C 15: 88,573,866 (GRCm39) I1078V possibly damaging Het
Celsr3 A G 9: 108,726,083 (GRCm39) E3104G probably damaging Het
Cyp2c69 T A 19: 39,839,593 (GRCm39) K343N probably benign Het
Cyp4f18 T A 8: 72,746,799 (GRCm39) D331V probably damaging Het
D130040H23Rik T C 8: 69,755,378 (GRCm39) V261A possibly damaging Het
Dchs1 T C 7: 105,421,247 (GRCm39) D391G probably damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Fat4 T C 3: 38,944,238 (GRCm39) F1044L probably damaging Het
Frrs1 A T 3: 116,672,057 (GRCm39) T52S probably benign Het
Gan G A 8: 117,914,168 (GRCm39) V189I probably benign Het
Hnf1b A G 11: 83,784,409 (GRCm39) probably benign Het
Itgae T C 11: 73,036,431 (GRCm39) I1123T possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lrrc18 A G 14: 32,730,478 (GRCm39) K6E possibly damaging Het
Map2 G A 1: 66,452,339 (GRCm39) V492I probably benign Het
Mtr A T 13: 12,250,430 (GRCm39) probably benign Het
Ncor1 G T 11: 62,269,330 (GRCm39) A689E possibly damaging Het
Or52n2c G A 7: 104,574,621 (GRCm39) L117F possibly damaging Het
Or5w22 T A 2: 87,363,016 (GRCm39) V213D probably damaging Het
Pcm1 G A 8: 41,740,738 (GRCm39) V995I probably benign Het
Pfkp A G 13: 6,669,574 (GRCm39) V215A probably damaging Het
Prkg2 T C 5: 99,142,420 (GRCm39) Y238C probably damaging Het
Prr14 C T 7: 127,073,154 (GRCm39) A167V probably benign Het
Ptprn A C 1: 75,234,587 (GRCm39) probably null Het
Rexo2 A T 9: 48,380,190 (GRCm39) I214N probably damaging Het
Rrbp1 A G 2: 143,830,233 (GRCm39) S645P probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Satb2 A T 1: 56,987,392 (GRCm39) C64* probably null Het
Sez6 A G 11: 77,853,871 (GRCm39) Y347C probably damaging Het
Sos2 A G 12: 69,663,729 (GRCm39) I585T probably damaging Het
Spg11 G A 2: 121,922,806 (GRCm39) T881M probably damaging Het
Tiam1 A T 16: 89,664,396 (GRCm39) probably null Het
Tlcd5 A G 9: 43,022,923 (GRCm39) W126R probably damaging Het
Top1 T C 2: 160,556,152 (GRCm39) I537T probably damaging Het
Trappc6a A G 7: 19,248,138 (GRCm39) S33G probably benign Het
Tspan11 G C 6: 127,926,768 (GRCm39) V239L probably benign Het
Ubr4 T C 4: 139,155,462 (GRCm39) V2190A possibly damaging Het
Usp28 A G 9: 48,896,806 (GRCm39) D9G possibly damaging Het
Uty A G Y: 1,245,440 (GRCm39) V35A probably benign Het
Vmn2r56 A G 7: 12,427,954 (GRCm39) S771P probably benign Het
Wars2 C T 3: 99,124,177 (GRCm39) A346V probably damaging Het
Wdr87-ps G T 7: 29,229,854 (GRCm39) noncoding transcript Het
Zfp142 G T 1: 74,611,247 (GRCm39) N849K probably benign Het
Zfp180 A T 7: 23,800,948 (GRCm39) N66I 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
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
R4329: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'- CTTGAACCCTTGTCATCCAGAGCTATG -3'
(R):5'- GGCTGAACCTGCCTCTAGATTTCAC -3'

Sequencing Primer
(F):5'- CTTGTCATCCAGAGCTATGGAAGG -3'
(R):5'- AGATTTCACCTCAGTGCTCAG -3'
Posted On 2014-04-13