Incidental Mutation 'R3981:Palmd'
ID351154
Institutional Source Beutler Lab
Gene Symbol Palmd
Ensembl Gene ENSMUSG00000033377
Gene Namepalmdelphin
Synonyms4631423C22Rik, PALML
MMRRC Submission 040943-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #R3981 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location116918258-116968987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 116923823 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 342 (T342A)
Ref Sequence ENSEMBL: ENSMUSP00000113107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040097] [ENSMUST00000119557] [ENSMUST00000143611]
Predicted Effect probably benign
Transcript: ENSMUST00000040097
AA Change: T342A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: T342A

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: T342A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: T342A

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 0.044 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik C T 4: 42,971,534 T289I probably damaging Het
Abca13 T G 11: 9,532,407 C4313G probably benign Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
Bckdk C A 7: 127,905,418 R105S probably damaging Het
Bhlhe22 G T 3: 18,054,894 R36L probably damaging Het
Cacnb2 A G 2: 14,604,503 E18G probably benign Het
Cct2 G A 10: 117,054,135 P10L probably damaging Het
Cep295 G T 9: 15,317,067 probably benign Het
Cep89 A G 7: 35,438,383 R731G probably damaging Het
Chrnb3 C T 8: 27,394,006 T257M probably damaging Het
Clca3a1 T A 3: 144,755,309 T194S probably benign Het
Clca4b T C 3: 144,926,036 K236R probably benign Het
Col18a1 C A 10: 77,088,887 D23Y probably damaging Het
Cry1 A T 10: 85,146,592 Y297N probably damaging Het
Defb38 A G 8: 19,026,467 probably null Het
Dlgap1 A G 17: 70,516,785 K255R probably damaging Het
Erich6 T C 3: 58,636,704 E154G probably benign Het
Esf1 G A 2: 140,158,556 P437S probably benign Het
Fkbp7 A C 2: 76,663,257 N197K probably damaging Het
Fsip2 T A 2: 82,958,662 D342E probably benign Het
Gbx1 T C 5: 24,526,215 D201G probably benign Het
Gm15056 T A 8: 20,900,941 K25N possibly damaging Het
Grb7 T G 11: 98,454,565 probably benign Het
H2-M3 C T 17: 37,271,130 A159V probably damaging Het
Hcar1 T C 5: 123,878,620 N336S probably benign Het
Ift122 T C 6: 115,913,921 V807A probably benign Het
Maml2 T C 9: 13,621,068 V526A possibly damaging Het
Map3k20 C T 2: 72,438,227 T526I probably damaging Het
Mfap2 A G 4: 141,014,243 Q71R possibly damaging Het
Mmd2 T C 5: 142,564,799 Y228C probably damaging Het
Mme T A 3: 63,328,064 Y178N probably damaging Het
Mras T C 9: 99,411,416 D57G probably damaging Het
Muc5ac T C 7: 141,813,775 C2274R possibly damaging Het
Olfr1062 T A 2: 86,422,842 Y278F probably damaging Het
Prpmp5 G A 6: 132,312,694 P56S unknown Het
Rdh19 A G 10: 127,850,148 N43S probably benign Het
Ros1 G A 10: 52,120,878 H1233Y possibly damaging Het
Samd8 A G 14: 21,780,180 R225G probably null Het
Slc7a11 C A 3: 50,427,774 V175L probably benign Het
Spata31d1c A G 13: 65,035,111 T156A possibly damaging Het
Stxbp5 T C 10: 9,789,316 probably benign Het
Tec T A 5: 72,823,599 probably benign Het
Tex37 T C 6: 70,913,299 N170D possibly damaging Het
Vps16 T C 2: 130,442,594 W728R possibly damaging Het
Xirp1 T C 9: 120,017,744 E691G probably damaging Het
Zfp605 T C 5: 110,127,738 S241P probably damaging Het
Zfp839 G A 12: 110,866,331 G561D probably damaging Het
Other mutations in Palmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Palmd APN 3 116927391 splice site probably benign
IGL01112:Palmd APN 3 116924273 missense probably damaging 1.00
IGL01484:Palmd APN 3 116953145 splice site probably benign
IGL01527:Palmd APN 3 116927188 nonsense probably null
IGL01561:Palmd APN 3 116924093 missense probably damaging 0.99
IGL01975:Palmd APN 3 116923634 missense probably benign 0.24
R0107:Palmd UTSW 3 116924076 missense probably damaging 1.00
R1099:Palmd UTSW 3 116923225 missense possibly damaging 0.71
R1552:Palmd UTSW 3 116948040 splice site probably benign
R1613:Palmd UTSW 3 116923504 missense probably damaging 1.00
R1710:Palmd UTSW 3 116923657 missense probably damaging 1.00
R2090:Palmd UTSW 3 116927434 missense probably damaging 1.00
R2869:Palmd UTSW 3 116923751 missense possibly damaging 0.60
R2869:Palmd UTSW 3 116923751 missense possibly damaging 0.60
R2870:Palmd UTSW 3 116923751 missense possibly damaging 0.60
R2870:Palmd UTSW 3 116923751 missense possibly damaging 0.60
R2871:Palmd UTSW 3 116923751 missense possibly damaging 0.60
R2871:Palmd UTSW 3 116923751 missense possibly damaging 0.60
R2872:Palmd UTSW 3 116923751 missense possibly damaging 0.60
R2872:Palmd UTSW 3 116923751 missense possibly damaging 0.60
R2873:Palmd UTSW 3 116923751 missense possibly damaging 0.60
R3774:Palmd UTSW 3 116927663 missense probably damaging 1.00
R3982:Palmd UTSW 3 116923823 missense probably benign 0.01
R3983:Palmd UTSW 3 116923823 missense probably benign 0.01
R4955:Palmd UTSW 3 116924224 missense probably damaging 1.00
R5103:Palmd UTSW 3 116927421 missense probably damaging 1.00
R5261:Palmd UTSW 3 116923360 missense probably benign 0.04
R5265:Palmd UTSW 3 116923849 missense possibly damaging 0.67
R5292:Palmd UTSW 3 116923744 missense probably benign 0.00
R5499:Palmd UTSW 3 116923832 missense probably benign 0.01
R5597:Palmd UTSW 3 116923576 missense probably damaging 1.00
R5666:Palmd UTSW 3 116924101 missense possibly damaging 0.55
R5817:Palmd UTSW 3 116918623 missense probably benign 0.01
R6843:Palmd UTSW 3 116924215 missense probably damaging 1.00
R6854:Palmd UTSW 3 116923463 missense probably benign 0.06
R7052:Palmd UTSW 3 116923363 missense probably benign 0.30
R7450:Palmd UTSW 3 116927643 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCATCCACATCAGAAGGCAG -3'
(R):5'- AGAGTCATAAGCCCTGGACC -3'

Sequencing Primer
(F):5'- GGGAATGAACGATGTTATATCTGAC -3'
(R):5'- GTCATAAGCCCTGGACCAAATTTTC -3'
Posted On2015-10-08