Incidental Mutation 'IGL01138:Pnmal2'
ID51640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnmal2
Ensembl Gene ENSMUSG00000070802
Gene NamePNMA-like 2
SynonymsEG434128
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL01138
Quality Score
Status
Chromosome7
Chromosomal Location16944682-16948828 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 16945163 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 24 (T24K)
Ref Sequence ENSEMBL: ENSMUSP00000092401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094807]
Predicted Effect unknown
Transcript: ENSMUST00000094807
AA Change: T24K
SMART Domains Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: T24K

DomainStartEndE-ValueType
Pfam:PNMA 1 152 4.1e-36 PFAM
low complexity region 172 196 N/A INTRINSIC
internal_repeat_1 239 296 1.86e-6 PROSPERO
SCOP:d1qbkb_ 309 331 2e-3 SMART
internal_repeat_1 343 402 1.86e-6 PROSPERO
low complexity region 445 454 N/A INTRINSIC
low complexity region 466 475 N/A INTRINSIC
low complexity region 483 498 N/A INTRINSIC
low complexity region 518 551 N/A INTRINSIC
low complexity region 571 596 N/A INTRINSIC
low complexity region 612 636 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,854,859 V27A probably benign Het
Abcg5 T A 17: 84,664,847 R499S possibly damaging Het
Adamts13 T C 2: 26,983,042 S341P probably damaging Het
Adgrg1 T A 8: 95,003,457 C96S probably damaging Het
Arhgap44 A G 11: 65,041,449 F215S probably damaging Het
Arhgef25 A G 10: 127,184,170 F400L probably damaging Het
Baz1a T C 12: 54,930,325 E384G probably damaging Het
Col12a1 T C 9: 79,678,053 D1314G probably damaging Het
Col6a3 T A 1: 90,807,510 I806F probably damaging Het
Coro1c G A 5: 113,852,161 probably benign Het
CT030661.1 G A 17: 22,202,668 probably benign Het
Dnmt3b A T 2: 153,661,441 D4V probably benign Het
Ermn G T 2: 58,052,695 L8M possibly damaging Het
F13b T A 1: 139,517,212 N533K probably damaging Het
Fam171a1 T C 2: 3,202,620 V93A possibly damaging Het
Fam84b T A 15: 60,823,118 I260F probably damaging Het
Gpr107 T A 2: 31,172,016 L152Q probably benign Het
Guca1a C A 17: 47,400,384 E12D probably damaging Het
Igtp A G 11: 58,206,144 N47S possibly damaging Het
Lrrc8e A G 8: 4,234,084 N103S probably damaging Het
Lsmem1 A G 12: 40,180,699 L68P probably damaging Het
Maml3 A G 3: 51,690,558 S902P possibly damaging Het
Mkln1 A T 6: 31,432,990 N188Y probably damaging Het
Mlxip C T 5: 123,450,156 R771W probably damaging Het
Myf6 T C 10: 107,494,398 R103G probably damaging Het
Ncam2 T A 16: 81,517,579 I481K probably damaging Het
Nrap T A 19: 56,355,538 S645C probably damaging Het
Nup205 G T 6: 35,208,084 E813* probably null Het
Olfr157 A G 4: 43,835,617 L291P probably damaging Het
Plekhg5 C T 4: 152,106,978 R410W probably damaging Het
Polq A T 16: 37,045,869 Y476F possibly damaging Het
Prkd2 T C 7: 16,848,811 S200P probably damaging Het
Rif1 C A 2: 52,111,522 L1663I probably damaging Het
Serpina5 A G 12: 104,103,744 Y300C possibly damaging Het
Shroom4 T C X: 6,585,203 S806P probably damaging Het
Sirpa T C 2: 129,630,165 V290A probably damaging Het
Slc25a47 C T 12: 108,856,022 R246C probably damaging Het
Slc9a6 A G X: 56,623,431 D199G probably damaging Het
Smarca5 T A 8: 80,701,076 K1048M possibly damaging Het
Sos2 C T 12: 69,616,849 probably benign Het
Trpm5 T A 7: 143,074,569 M990L probably benign Het
Vmn2r99 A T 17: 19,382,623 T547S probably damaging Het
Vps13b T C 15: 35,446,770 probably benign Het
Other mutations in Pnmal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02023:Pnmal2 APN 7 16945691 missense probably damaging 0.97
FR4737:Pnmal2 UTSW 7 16946006 small deletion probably benign
R0085:Pnmal2 UTSW 7 16945549 missense unknown
R2069:Pnmal2 UTSW 7 16945789 missense probably damaging 0.99
R2151:Pnmal2 UTSW 7 16945912 missense probably benign 0.00
R2321:Pnmal2 UTSW 7 16945565 missense unknown
R2929:Pnmal2 UTSW 7 16946692 missense possibly damaging 0.93
R3738:Pnmal2 UTSW 7 16946596 missense probably benign 0.00
R3739:Pnmal2 UTSW 7 16946596 missense probably benign 0.00
R5185:Pnmal2 UTSW 7 16945976 missense probably damaging 1.00
R5259:Pnmal2 UTSW 7 16945274 missense unknown
R5908:Pnmal2 UTSW 7 16947043 missense unknown
R5943:Pnmal2 UTSW 7 16946437 missense probably benign 0.25
R6101:Pnmal2 UTSW 7 16946568 missense probably benign 0.20
R6260:Pnmal2 UTSW 7 16946233 missense probably benign 0.03
R6583:Pnmal2 UTSW 7 16945919 missense probably damaging 0.97
R7007:Pnmal2 UTSW 7 16946256 missense possibly damaging 0.68
R7497:Pnmal2 UTSW 7 16944949 start gained probably benign
R8231:Pnmal2 UTSW 7 16946590 missense probably benign 0.01
R8278:Pnmal2 UTSW 7 16946338 missense probably damaging 0.99
RF003:Pnmal2 UTSW 7 16946016 small insertion probably benign
Z1176:Pnmal2 UTSW 7 16946810 missense possibly damaging 0.93
Z1177:Pnmal2 UTSW 7 16946968 missense unknown
Posted On2013-06-21