Incidental Mutation 'R2871:Palmd'
ID 266567
Institutional Source Beutler Lab
Gene Symbol Palmd
Ensembl Gene ENSMUSG00000033377
Gene Name palmdelphin
Synonyms 4631423C22Rik, PALML
MMRRC Submission 040459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R2871 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 116711907-116762636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116717400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 366 (R366G)
Ref Sequence ENSEMBL: ENSMUSP00000113107 (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: R366G

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: R366G

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:Paralemmin 65 512 3.6e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119557
AA Change: R366G

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: R366G

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,846,002 (GRCm39) C811R possibly damaging Het
Akap8l G A 17: 32,557,416 (GRCm39) T65I possibly damaging Het
Amdhd2 A G 17: 24,376,829 (GRCm39) probably benign Het
Arid4a T A 12: 71,069,034 (GRCm39) probably null Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
C030034I22Rik T A 17: 69,725,106 (GRCm39) noncoding transcript Het
Ccnb1-ps C A 7: 41,755,499 (GRCm39) noncoding transcript Het
Cfap54 A T 10: 92,757,281 (GRCm39) F273I possibly damaging Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Eml5 C T 12: 98,831,660 (GRCm39) D433N probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Homo
Ftdc1 A T 16: 58,434,342 (GRCm39) I125K probably benign Het
Gm21759 T A 5: 8,230,863 (GRCm39) probably benign Het
Gm5454 C A 13: 103,494,031 (GRCm39) noncoding transcript Het
Gm9874 A T 17: 30,704,763 (GRCm39) probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Grid2ip C A 5: 143,343,684 (GRCm39) Q127K probably benign Het
Habp2 T A 19: 56,276,423 (GRCm39) probably benign Het
Hdhd2 T C 18: 77,042,702 (GRCm39) F44L probably damaging Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Ift172 C T 5: 31,415,205 (GRCm39) V1335I probably benign Het
Ighv2-2 G A 12: 113,552,118 (GRCm39) T40I possibly damaging Het
Kcnk10 T A 12: 98,401,072 (GRCm39) R520S probably benign Het
Kif1c A G 11: 70,614,907 (GRCm39) E567G probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Homo
Kpna7 T C 5: 144,930,745 (GRCm39) T367A probably benign Het
Lpo A G 11: 87,707,350 (GRCm39) I221T possibly damaging Het
Lrrn3 T C 12: 41,502,722 (GRCm39) I532V probably benign Het
Mapk7 C A 11: 61,381,038 (GRCm39) probably benign Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mki67 G A 7: 135,309,878 (GRCm39) P191L probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mpp7 G A 18: 7,461,678 (GRCm39) P65L possibly damaging Het
Msh2 C A 17: 87,993,012 (GRCm39) Q314K possibly damaging Het
Mtm1 T C X: 70,339,968 (GRCm39) probably benign Homo
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nav1 A G 1: 135,388,495 (GRCm39) silent Het
Nell1 A T 7: 49,899,405 (GRCm39) probably benign Het
Nlrp4b C T 7: 10,444,170 (GRCm39) Q40* probably null Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Npas3 C T 12: 54,114,796 (GRCm39) R542* probably null Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or13a17 A G 7: 140,271,198 (GRCm39) I127V possibly damaging Het
Or13j1 C A 4: 43,706,458 (GRCm39) V37L probably benign Het
Or5t16 A T 2: 86,819,192 (GRCm39) C109* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pcnx3 A T 19: 5,733,774 (GRCm39) probably benign Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Pkp4 C A 2: 59,138,500 (GRCm39) T250K probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Homo
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Psmd13 A T 7: 140,466,968 (GRCm39) T116S probably damaging Het
Rel T C 11: 23,711,129 (GRCm39) I13V probably benign Het
Reln C T 5: 22,254,789 (GRCm39) V527I possibly damaging Het
Rnf6 T C 5: 146,147,215 (GRCm39) Y601C probably benign Het
Rps6kc1 T C 1: 190,631,766 (GRCm39) I48M probably damaging Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Son A G 16: 91,461,205 (GRCm39) probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vmn2r70 T A 7: 85,208,227 (GRCm39) Y750F probably damaging Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign Het
Zzz3 T A 3: 152,152,481 (GRCm39) silent 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
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
R6854:Palmd UTSW 3 116,717,112 (GRCm39) missense probably benign 0.06
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'- CGTAGCCTGTCAAAAGCTTC -3'
(R):5'- AATATGACCGACGGGCTCTC -3'

Sequencing Primer
(F):5'- GTAGCCTGTCAAAAGCTTCTTTTC -3'
(R):5'- ACGGGCTCTCAGAGAGG -3'
Posted On 2015-02-18