Incidental Mutation 'R6854:Palmd'
ID 535137
Institutional Source Beutler Lab
Gene Symbol Palmd
Ensembl Gene ENSMUSG00000033377
Gene Name palmdelphin
Synonyms 4631423C22Rik, PALML
MMRRC Submission 044957-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6854 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 116711907-116762636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116717112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 462 (S462P)
Ref Sequence ENSEMBL: ENSMUSP00000044693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040097] [ENSMUST00000119557] [ENSMUST00000143611]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040097
AA Change: S462P

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: S462P

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:Paralemmin 65 512 3.6e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119557
AA Change: S462P

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: S462P

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:Paralemmin 64 278 6.6e-14 PFAM
Pfam:Paralemmin 323 515 1.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143611
SMART Domains Protein: ENSMUSP00000122725
Gene: ENSMUSG00000033377

DomainStartEndE-ValueType
coiled coil region 4 94 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,992,599 (GRCm39) S4628P probably damaging Het
Aspm G A 1: 139,390,920 (GRCm39) R735H possibly damaging Het
Atp4a T C 7: 30,414,433 (GRCm39) V152A probably benign Het
BC035947 G A 1: 78,475,125 (GRCm39) T469I probably damaging Het
Bicra A T 7: 15,722,687 (GRCm39) S277T probably benign Het
Catsperg1 A T 7: 28,881,127 (GRCm39) N1142K possibly damaging Het
Ccnd3 T C 17: 47,889,645 (GRCm39) probably benign Het
Cdc25a A G 9: 109,708,995 (GRCm39) K79E probably damaging Het
Cfap44 A G 16: 44,269,391 (GRCm39) probably null Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Flrt3 C T 2: 140,502,638 (GRCm39) R330H probably damaging Het
Gm6034 T A 17: 36,368,110 (GRCm39) probably null Het
Hivep1 A G 13: 42,309,983 (GRCm39) E741G probably damaging Het
Iqgap3 T C 3: 88,004,258 (GRCm39) V448A probably damaging Het
Itsn2 A G 12: 4,702,382 (GRCm39) R679G probably benign Het
Klrb1c A G 6: 128,765,381 (GRCm39) S70P possibly damaging Het
Maml2 C T 9: 13,617,131 (GRCm39) T159I possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mycl G A 4: 122,894,039 (GRCm39) D280N probably damaging Het
Nlrp1b G A 11: 71,119,259 (GRCm39) T12I possibly damaging Het
Or4f14c T C 2: 111,940,992 (GRCm39) N202D probably benign Het
Or5h19 A C 16: 58,856,428 (GRCm39) I224S possibly damaging Het
Phyhd1 A C 2: 30,159,773 (GRCm39) I36L possibly damaging Het
Plcd1 T C 9: 118,903,389 (GRCm39) probably null Het
Pml G C 9: 58,127,189 (GRCm39) A806G probably damaging Het
Ppp6r1 C A 7: 4,635,395 (GRCm39) A838S probably benign Het
Prkdc C T 16: 15,469,402 (GRCm39) T169I probably damaging Het
Prr23a1 G T 9: 98,724,988 (GRCm39) V117L possibly damaging Het
Pus7 T C 5: 23,973,845 (GRCm39) silent Het
Rdh7 T C 10: 127,724,250 (GRCm39) E78G probably benign Het
Repin1 G T 6: 48,570,825 (GRCm39) probably benign Het
Rptn A G 3: 93,305,430 (GRCm39) N921S possibly damaging Het
Sema4f A G 6: 82,894,983 (GRCm39) L404P probably damaging Het
Serinc4 T A 2: 121,287,031 (GRCm39) M2L probably benign Het
Siglecf T C 7: 43,001,604 (GRCm39) V138A probably benign Het
Slc66a3 G A 12: 17,049,830 (GRCm39) L43F probably damaging Het
Speer2 T A 16: 69,655,775 (GRCm39) Q106L probably damaging Het
Sptb G A 12: 76,650,254 (GRCm39) P1821L probably damaging Het
St3gal3 C A 4: 117,815,727 (GRCm39) M107I probably benign Het
Tmem25 T C 9: 44,707,305 (GRCm39) K265E possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vsig10 G A 5: 117,476,472 (GRCm39) V309I probably benign Het
Zfp318 G GAAGAAA 17: 46,723,468 (GRCm39) probably benign Het
Other mutations in Palmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Palmd APN 3 116,721,040 (GRCm39) splice site probably benign
IGL01112:Palmd APN 3 116,717,922 (GRCm39) missense probably damaging 1.00
IGL01484:Palmd APN 3 116,746,794 (GRCm39) splice site probably benign
IGL01527:Palmd APN 3 116,720,837 (GRCm39) nonsense probably null
IGL01561:Palmd APN 3 116,717,742 (GRCm39) missense probably damaging 0.99
IGL01975:Palmd APN 3 116,717,283 (GRCm39) missense probably benign 0.24
R0107:Palmd UTSW 3 116,717,725 (GRCm39) missense probably damaging 1.00
R1099:Palmd UTSW 3 116,716,874 (GRCm39) missense possibly damaging 0.71
R1552:Palmd UTSW 3 116,741,689 (GRCm39) splice site probably benign
R1613:Palmd UTSW 3 116,717,153 (GRCm39) missense probably damaging 1.00
R1710:Palmd UTSW 3 116,717,306 (GRCm39) missense probably damaging 1.00
R2090:Palmd UTSW 3 116,721,083 (GRCm39) missense probably damaging 1.00
R2869:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2869:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2870:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2870:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2871:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2871:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2872:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2872:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R2873:Palmd UTSW 3 116,717,400 (GRCm39) missense possibly damaging 0.60
R3774:Palmd UTSW 3 116,721,312 (GRCm39) missense probably damaging 1.00
R3981:Palmd UTSW 3 116,717,472 (GRCm39) missense probably benign 0.01
R3982:Palmd UTSW 3 116,717,472 (GRCm39) missense probably benign 0.01
R3983:Palmd UTSW 3 116,717,472 (GRCm39) missense probably benign 0.01
R4955:Palmd UTSW 3 116,717,873 (GRCm39) missense probably damaging 1.00
R5103:Palmd UTSW 3 116,721,070 (GRCm39) missense probably damaging 1.00
R5261:Palmd UTSW 3 116,717,009 (GRCm39) missense probably benign 0.04
R5265:Palmd UTSW 3 116,717,498 (GRCm39) missense possibly damaging 0.67
R5292:Palmd UTSW 3 116,717,393 (GRCm39) missense probably benign 0.00
R5499:Palmd UTSW 3 116,717,481 (GRCm39) missense probably benign 0.01
R5597:Palmd UTSW 3 116,717,225 (GRCm39) missense probably damaging 1.00
R5666:Palmd UTSW 3 116,717,750 (GRCm39) missense possibly damaging 0.55
R5817:Palmd UTSW 3 116,712,272 (GRCm39) missense probably benign 0.01
R6843:Palmd UTSW 3 116,717,864 (GRCm39) missense probably damaging 1.00
R7052:Palmd UTSW 3 116,717,012 (GRCm39) missense probably benign 0.30
R7450:Palmd UTSW 3 116,721,292 (GRCm39) missense probably damaging 1.00
R8876:Palmd UTSW 3 116,720,899 (GRCm39) missense probably damaging 1.00
R9655:Palmd UTSW 3 116,716,840 (GRCm39) makesense probably null
R9681:Palmd UTSW 3 116,717,120 (GRCm39) missense probably benign 0.22
Z1177:Palmd UTSW 3 116,717,151 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGTAAACAGCAGCGGCATG -3'
(R):5'- CTGCCTTCTGATGTGGATGAC -3'

Sequencing Primer
(F):5'- AAGGATCCTCAGTCCCGTC -3'
(R):5'- TGGATGACACAGAACCTGTAAC -3'
Posted On 2018-09-12