Incidental Mutation 'R8496:Palm'
ID 658278
Institutional Source Beutler Lab
Gene Symbol Palm
Ensembl Gene ENSMUSG00000035863
Gene Name paralemmin
Synonyms
MMRRC Submission 067938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8496 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 79629406-79656730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79642485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 6 (T6I)
Ref Sequence ENSEMBL: ENSMUSP00000152010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046945] [ENSMUST00000105379] [ENSMUST00000218631]
AlphaFold Q9Z0P4
Predicted Effect probably benign
Transcript: ENSMUST00000046945
AA Change: T6I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
AA Change: T6I

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: T6I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863
AA Change: T6I

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
Pfam:Paralemmin 70 339 1.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218631
AA Change: T6I

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,645,120 (GRCm39) E335G probably benign Het
Afp C T 5: 90,639,572 (GRCm39) S34F probably damaging Het
Ano6 T A 15: 95,847,807 (GRCm39) I639N probably damaging Het
Atp13a1 T G 8: 70,250,618 (GRCm39) V411G probably damaging Het
Cadm2 A T 16: 66,461,309 (GRCm39) C383S probably damaging Het
Capn2 T C 1: 182,304,840 (GRCm39) I556V probably benign Het
Cd34 A G 1: 194,642,089 (GRCm39) E322G probably benign Het
Cel T C 2: 28,446,200 (GRCm39) D557G probably benign Het
Cemip T C 7: 83,600,634 (GRCm39) I996V probably benign Het
Clca3a1 A T 3: 144,453,182 (GRCm39) *514R probably null Het
Cry2 C G 2: 92,257,284 (GRCm39) R95P probably damaging Het
Ctse T A 1: 131,592,118 (GRCm39) I148N probably damaging Het
Cyp4f13 G C 17: 33,143,833 (GRCm39) P497R probably damaging Het
Dsn1 C T 2: 156,839,640 (GRCm39) V254M probably benign Het
Fcgbpl1 A G 7: 27,843,377 (GRCm39) D755G possibly damaging Het
Gm4847 T A 1: 166,469,761 (GRCm39) H104L possibly damaging Het
Gpr88 T C 3: 116,046,117 (GRCm39) T65A possibly damaging Het
Gtse1 A G 15: 85,746,283 (GRCm39) D33G probably damaging Het
Ints6 A G 14: 62,943,325 (GRCm39) Y455H probably benign Het
Kctd1 A T 18: 15,107,228 (GRCm39) C150S probably damaging Het
Kctd11 T G 11: 69,770,877 (GRCm39) T54P probably damaging Het
Kif1b C A 4: 149,277,068 (GRCm39) G56* probably null Het
Kifap3 T A 1: 163,656,866 (GRCm39) probably null Het
Naip5 G T 13: 100,349,247 (GRCm39) H1360Q probably benign Het
Ncapd2 T C 6: 125,147,127 (GRCm39) E1198G probably damaging Het
Nova1 T A 12: 46,760,325 (GRCm39) K90* probably null Het
Odc1 T A 12: 17,598,396 (GRCm39) L179H probably damaging Het
Or10w1 T A 19: 13,632,388 (GRCm39) H193Q probably damaging Het
Or1ad8 T C 11: 50,897,877 (GRCm39) V26A probably benign Het
Or1s2 A G 19: 13,758,384 (GRCm39) N136S probably benign Het
Parp10 T A 15: 76,117,749 (GRCm39) D879V probably damaging Het
Phf2 A G 13: 48,971,181 (GRCm39) V497A unknown Het
Pparg A G 6: 115,440,112 (GRCm39) I199V probably benign Het
Ppm1b T A 17: 85,301,660 (GRCm39) I180N probably damaging Het
Prdx5 A T 19: 6,885,542 (GRCm39) C37* probably null Het
Ptprz1 A T 6: 22,972,797 (GRCm39) T236S probably damaging Het
Rab5b G A 10: 128,518,776 (GRCm39) Q119* probably null Het
Rdh19 T A 10: 127,695,469 (GRCm39) W228R probably damaging Het
Schip1 G T 3: 68,401,946 (GRCm39) G36C probably damaging Het
Secisbp2 T C 13: 51,819,383 (GRCm39) V321A probably damaging Het
Slc6a5 T A 7: 49,585,960 (GRCm39) V426D probably damaging Het
Syne1 T A 10: 5,178,896 (GRCm39) E4526V probably damaging Het
Syne1 T C 10: 5,268,441 (GRCm39) K2083E probably damaging Het
Tecta T A 9: 42,241,547 (GRCm39) I2143F probably benign Het
Tfap4 T C 16: 4,369,170 (GRCm39) D90G probably damaging Het
Ttll12 T C 15: 83,462,010 (GRCm39) Y569C probably damaging Het
Zfp326 T G 5: 106,036,451 (GRCm39) S121A probably damaging 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
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
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'- TCTTCATGGCCCAAACCTAATG -3'
(R):5'- AATGCCAGTCTCAGTTTCCC -3'

Sequencing Primer
(F):5'- AAACCTAATGCCCCCTTTTCC -3'
(R):5'- TGAAAACAAAGGACCCCTATTTTC -3'
Posted On 2021-01-18