Incidental Mutation 'R6843:Palmd'
ID534612
Institutional Source Beutler Lab
Gene Symbol Palmd
Ensembl Gene ENSMUSG00000033377
Gene Namepalmdelphin
Synonyms4631423C22Rik, PALML
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #R6843 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location116918258-116968987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116924215 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 211 (D211V)
Ref Sequence ENSEMBL: ENSMUSP00000113107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040097] [ENSMUST00000119557] [ENSMUST00000143611]
Predicted Effect probably damaging
Transcript: ENSMUST00000040097
AA Change: D211V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: D211V

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:Paralemmin 65 512 3.6e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119557
AA Change: D211V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: D211V

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: 99.3%
  • 20x: 97.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,638,401 Q78L probably benign Het
Akr1c21 A G 13: 4,575,214 H48R probably damaging Het
Anks1b T A 10: 90,948,598 S1143T probably damaging Het
Apip T G 2: 103,092,489 F217L probably benign Het
Ash1l T A 3: 88,985,388 Y1525N probably damaging Het
Bcl2l13 G A 6: 120,848,617 probably null Het
Cep85 C G 4: 134,155,856 A241P probably benign Het
Clk4 T G 11: 51,276,249 probably null Het
Cnr2 C T 4: 135,917,589 P326L probably benign Het
Cryaa A G 17: 31,678,173 D58G possibly damaging Het
Crybg3 G A 16: 59,559,796 T365M probably benign Het
Csmd2 A G 4: 128,463,794 N1683D probably benign Het
Dbx2 T G 15: 95,654,459 I102L possibly damaging Het
Dll4 A T 2: 119,325,994 probably benign Het
Epb42 T A 2: 121,027,685 Y264F possibly damaging Het
Exoc3l T A 8: 105,290,097 H695L probably benign Het
Fam160a1 G A 3: 85,673,045 P618S probably damaging Het
Ghsr A C 3: 27,372,527 D244A probably benign Het
Gm9195 A G 14: 72,441,211 Y2268H possibly damaging Het
Hdac1 A G 4: 129,542,590 Y14H probably damaging Het
Hdac3 A T 18: 37,941,954 Y282N probably benign Het
Heg1 T A 16: 33,719,526 N285K probably benign Het
Igkv4-90 A G 6: 68,807,686 F8S possibly damaging Het
Map2k1 A T 9: 64,187,691 D336E probably damaging Het
Map4k2 A T 19: 6,353,447 I796F probably damaging Het
Mapk13 T A 17: 28,775,453 probably null Het
Mprip A G 11: 59,759,728 I1419M possibly damaging Het
Nrap T C 19: 56,380,219 E255G probably damaging Het
Olfr1306 T C 2: 111,912,915 N5S probably damaging Het
Olfr1357 T C 10: 78,612,057 N195D probably damaging Het
Olfr1451 G T 19: 12,998,998 C4F probably benign Het
Olfr549 A G 7: 102,554,721 I146V probably benign Het
Olfr799 A G 10: 129,647,179 D17G possibly damaging Het
Oprl1 A G 2: 181,715,754 E11G probably damaging Het
Pcdhga11 A G 18: 37,756,325 N129D probably damaging Het
Plekha6 T A 1: 133,274,878 M359K probably damaging Het
Plekha7 G T 7: 116,143,320 H756Q probably benign Het
Ppfibp2 C T 7: 107,727,731 P441S probably benign Het
Ptprk T C 10: 28,591,982 I1373T possibly damaging Het
Serpinb9g G T 13: 33,492,917 L227F probably damaging Het
Snapc4 C A 2: 26,373,599 A11S probably benign Het
Sqor T C 2: 122,784,980 V7A probably benign Het
Sqor G T 2: 122,809,295 G437V probably damaging Het
Srrm3 T C 5: 135,852,281 V145A probably benign Het
Stx1b G A 7: 127,814,979 Q72* probably null Het
Syt7 A G 19: 10,421,771 D77G probably damaging Het
Tvp23a G A 16: 10,447,020 A9V probably benign Het
Vmn1r66 T A 7: 10,274,765 I114F probably damaging Het
Vmn2r80 C A 10: 79,169,668 Q380K probably benign Het
Xdh C T 17: 73,923,130 E269K probably damaging Het
Zfp932 T C 5: 110,008,715 M92T probably benign 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
R3981:Palmd UTSW 3 116923823 missense probably benign 0.01
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
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
Z1177:Palmd UTSW 3 116923502 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGCAGATTCATTTGCATGG -3'
(R):5'- TTCGTTTATAAGAGAAAAGGGGTGC -3'

Sequencing Primer
(F):5'- GAAAATTTGGTCCAGGGCTTATGAC -3'
(R):5'- AAAAGGGGTGCTAAATCGTGTGTTG -3'
Posted On2018-09-12