Incidental Mutation 'R4327:Palm'
ID 324426
Institutional Source Beutler Lab
Gene Symbol Palm
Ensembl Gene ENSMUSG00000035863
Gene Name paralemmin
Synonyms
MMRRC Submission 041097-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4327 (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: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (64/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,221,664 (GRCm39) D55G possibly damaging Het
Alcam T C 16: 52,073,579 (GRCm39) N549S possibly damaging Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Arhgef12 C A 9: 42,886,525 (GRCm39) E1152* probably null Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atp1a3 A G 7: 24,687,056 (GRCm39) probably benign Het
Bcl2l1 A G 2: 152,624,099 (GRCm39) V223A probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Cela3b G T 4: 137,151,242 (GRCm39) A137E probably benign Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Col16a1 T C 4: 129,988,344 (GRCm39) probably null Het
Ctcfl G A 2: 172,955,299 (GRCm39) probably benign Het
Cyp2j8 T A 4: 96,395,566 (GRCm39) T20S probably benign Het
Fastkd2 A G 1: 63,791,516 (GRCm39) K675E probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Hmgxb3 A T 18: 61,300,611 (GRCm39) M155K probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kcnn1 A T 8: 71,305,307 (GRCm39) V301E probably damaging Het
Kcnq4 T C 4: 120,568,561 (GRCm39) E385G probably benign Het
Klhl28 G A 12: 64,996,952 (GRCm39) A463V probably damaging Het
Lhb A G 7: 45,070,383 (GRCm39) R3G possibly damaging Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Macf1 C T 4: 123,276,005 (GRCm39) A4176T probably damaging Het
Marchf6 C T 15: 31,498,887 (GRCm39) E137K probably benign Het
Med12l T C 3: 59,172,688 (GRCm39) S1813P probably benign Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Muc2 A C 7: 141,281,577 (GRCm39) S479R probably damaging Het
Or11g27 T A 14: 50,770,971 (GRCm39) I34N probably benign Het
Or12e10 G T 2: 87,640,496 (GRCm39) V111L probably benign Het
Or2t1 T A 14: 14,328,193 (GRCm38) F27L probably damaging Het
Or52n1 G A 7: 104,382,833 (GRCm39) T246I probably damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A 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
Pex26 A T 6: 121,164,373 (GRCm39) E172V probably damaging Het
Pitrm1 A G 13: 6,629,809 (GRCm39) probably benign Het
Ptprs C A 17: 56,754,468 (GRCm39) A191S possibly damaging Het
Rdm1 T A 11: 101,521,734 (GRCm39) V92E probably damaging Het
Scn7a A G 2: 66,567,815 (GRCm39) F260L probably damaging Het
Serpinb3a T A 1: 106,979,500 (GRCm39) M1L probably damaging Het
Sh3d19 T C 3: 86,031,020 (GRCm39) I728T probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Slc13a1 A G 6: 24,103,478 (GRCm39) V355A probably benign Het
St7 G A 6: 17,819,287 (GRCm39) V64M probably damaging Het
Tcf25 T A 8: 124,127,882 (GRCm39) L622* probably null Het
Tiam1 A G 16: 89,652,779 (GRCm39) V781A possibly damaging Het
Tigd2 C A 6: 59,187,562 (GRCm39) T143K probably benign Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem161b G A 13: 84,399,359 (GRCm39) G5D probably damaging Het
Tonsl G A 15: 76,523,916 (GRCm39) A28V probably benign Het
Treml4 T C 17: 48,581,417 (GRCm39) Y222H probably damaging Het
Trp53bp1 A T 2: 121,087,131 (GRCm39) V175D probably damaging Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp286 A G 11: 62,670,844 (GRCm39) C410R probably damaging Het
Zfp934 T G 13: 62,665,373 (GRCm39) N312H 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
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'- TAATTCTGACCTGAGTCCCGATTC -3'
(R):5'- TCACACCTGCTCCTGTGTAG -3'

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