Incidental Mutation 'IGL02653:Lnpk'
ID302235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lnpk
Ensembl Gene ENSMUSG00000009207
Gene Namelunapark, ER junction formation factor
Synonyms2310011O18Rik, lunapark, 9530051D01Rik, 4921514L11Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.836) question?
Stock #IGL02653
Quality Score
Status
Chromosome2
Chromosomal Location74520291-74579435 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74548048 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 123 (V123A)
Ref Sequence ENSEMBL: ENSMUSP00000122488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064503] [ENSMUST00000102676] [ENSMUST00000111993] [ENSMUST00000130232] [ENSMUST00000130586]
Predicted Effect probably damaging
Transcript: ENSMUST00000064503
AA Change: V123A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: V123A

DomainStartEndE-ValueType
coiled coil region 15 41 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
coiled coil region 100 129 N/A INTRINSIC
low complexity region 177 198 N/A INTRINSIC
low complexity region 228 245 N/A INTRINSIC
Pfam:zinc_ribbon_10 250 300 7.4e-25 PFAM
low complexity region 383 401 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102676
AA Change: V123A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099737
Gene: ENSMUSG00000009207
AA Change: V123A

DomainStartEndE-ValueType
coiled coil region 15 41 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
coiled coil region 100 129 N/A INTRINSIC
low complexity region 177 198 N/A INTRINSIC
low complexity region 228 245 N/A INTRINSIC
Pfam:DUF2296 250 300 2.1e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111993
AA Change: V123A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107624
Gene: ENSMUSG00000009207
AA Change: V123A

DomainStartEndE-ValueType
coiled coil region 15 41 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
coiled coil region 100 129 N/A INTRINSIC
low complexity region 177 198 N/A INTRINSIC
low complexity region 228 245 N/A INTRINSIC
Pfam:DUF2296 250 300 2.1e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130232
AA Change: V123A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120494
Gene: ENSMUSG00000009207
AA Change: V123A

DomainStartEndE-ValueType
coiled coil region 15 41 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
coiled coil region 100 129 N/A INTRINSIC
low complexity region 177 196 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130586
AA Change: V123A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122488
Gene: ENSMUSG00000009207
AA Change: V123A

DomainStartEndE-ValueType
coiled coil region 15 41 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
coiled coil region 100 129 N/A INTRINSIC
low complexity region 177 198 N/A INTRINSIC
low complexity region 228 245 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155006
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: A semidominant X-ray-induced mutation results in severe length reductions of forelimb and hindlimb zeugopods, near absence of ulna, abnormal articulations in the carpus and tarsus, and genetic background-sensitive postnatal survival; heterozygous males do not breed and show increased bleeding times. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 46,115,767 probably benign Het
Alox5 T A 6: 116,415,477 H361L probably benign Het
Arid2 A G 15: 96,287,702 N3S probably damaging Het
Atp1a4 T A 1: 172,251,406 I182F possibly damaging Het
Ctnna2 A T 6: 76,980,777 D496E probably benign Het
Cyp3a25 G T 5: 146,003,110 S29Y possibly damaging Het
Dglucy G A 12: 100,871,431 G611D probably benign Het
Efcab5 T C 11: 77,132,022 K622E probably damaging Het
Esyt1 T A 10: 128,511,008 I1071L probably benign Het
Fbn2 T C 18: 58,076,705 K1035E probably benign Het
Frem1 T G 4: 82,959,334 E1335D probably benign Het
Gm5900 A G 7: 104,950,133 noncoding transcript Het
Ikbke T A 1: 131,271,835 Q283L possibly damaging Het
Lepr A T 4: 101,764,944 I358F probably benign Het
Mis12 A G 11: 71,025,531 K130R probably damaging Het
Ncapg2 T A 12: 116,425,906 probably null Het
Npy6r T C 18: 44,276,627 *372Q probably null Het
Polr3d T C 14: 70,440,117 D273G probably damaging Het
Ppp2r3a A G 9: 101,211,693 V477A probably benign Het
Prpf19 T A 19: 10,902,964 probably benign Het
Pwwp2a A G 11: 43,706,035 T676A possibly damaging Het
Ralgapb T A 2: 158,443,309 I242N probably damaging Het
Scn3a A T 2: 65,461,187 S1738R probably damaging Het
Snapc1 C A 12: 73,982,487 P348Q probably benign Het
Spert T C 14: 75,583,157 D385G probably damaging Het
Tbc1d7 T C 13: 43,165,398 I88V probably benign Het
Tnks2 T C 19: 36,872,451 S220P probably damaging Het
Trim56 A T 5: 137,112,906 S585R probably damaging Het
Trpm2 T G 10: 77,912,669 E1389A probably benign Het
Tspear T A 10: 77,706,965 probably benign Het
Vmn1r180 T C 7: 23,953,075 I221T probably damaging Het
Vmn1r204 A C 13: 22,556,630 I144L probably benign Het
Vmn2r20 A T 6: 123,385,365 I820N probably damaging Het
Vwa3b T A 1: 37,175,565 probably benign Het
Wnt1 G A 15: 98,792,455 G222R probably damaging Het
Zadh2 T C 18: 84,095,318 V373A possibly damaging Het
Other mutations in Lnpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Lnpk APN 2 74529717 missense probably damaging 1.00
R0173:Lnpk UTSW 2 74551065 missense probably damaging 1.00
R0242:Lnpk UTSW 2 74537289 splice site probably benign
R1579:Lnpk UTSW 2 74547996 missense probably damaging 1.00
R2192:Lnpk UTSW 2 74569029 missense probably benign 0.13
R2698:Lnpk UTSW 2 74537501 missense probably damaging 1.00
R3788:Lnpk UTSW 2 74522263 missense probably benign 0.00
R3789:Lnpk UTSW 2 74522263 missense probably benign 0.00
R3790:Lnpk UTSW 2 74522263 missense probably benign 0.00
R4198:Lnpk UTSW 2 74569109 missense probably damaging 0.99
R4547:Lnpk UTSW 2 74522286 missense probably benign 0.14
R5244:Lnpk UTSW 2 74531888 missense probably damaging 1.00
R5347:Lnpk UTSW 2 74573591 start gained probably benign
R5516:Lnpk UTSW 2 74547788 intron probably benign
R5610:Lnpk UTSW 2 74548025 missense probably benign 0.02
R5859:Lnpk UTSW 2 74569028 missense possibly damaging 0.93
R5984:Lnpk UTSW 2 74522199 missense probably benign 0.00
R6788:Lnpk UTSW 2 74529676 missense probably benign 0.02
R7597:Lnpk UTSW 2 74568972 missense probably benign 0.28
R8062:Lnpk UTSW 2 74551063 missense possibly damaging 0.90
R8103:Lnpk UTSW 2 74522255 missense probably benign 0.10
Z1177:Lnpk UTSW 2 74573562 start codon destroyed probably null 1.00
Posted On2015-04-16