Incidental Mutation 'R6788:Lnpk'
ID532469
Institutional Source Beutler Lab
Gene Symbol Lnpk
Ensembl Gene ENSMUSG00000009207
Gene Namelunapark, ER junction formation factor
Synonyms2310011O18Rik, lunapark, 9530051D01Rik, 4921514L11Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.778) question?
Stock #R6788 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location74520291-74579435 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74529676 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 332 (T332A)
Ref Sequence ENSEMBL: ENSMUSP00000107624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064503] [ENSMUST00000102676] [ENSMUST00000111993] [ENSMUST00000130586]
Predicted Effect probably benign
Transcript: ENSMUST00000064503
AA Change: T332A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: T332A

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 benign
Transcript: ENSMUST00000102676
AA Change: T332A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099737
Gene: ENSMUSG00000009207
AA Change: T332A

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 benign
Transcript: ENSMUST00000111993
AA Change: T332A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000107624
Gene: ENSMUSG00000009207
AA Change: T332A

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 benign
Transcript: ENSMUST00000130586
SMART Domains Protein: ENSMUSP00000122488
Gene: ENSMUSG00000009207

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.4%
Validation Efficiency 97% (68/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190002N15Rik C T 9: 94,524,449 V302I probably benign Het
1700016D06Rik T C 8: 11,678,584 E29G possibly damaging Het
Ahctf1 A T 1: 179,752,634 V2001E probably benign Het
Ahsg A G 16: 22,894,835 D122G probably benign Het
Ank3 A G 10: 70,004,723 Y1616C probably damaging Het
Arhgef1 A G 7: 24,919,780 probably null Het
Atp7b T C 8: 22,004,375 I1023V probably benign Het
Bod1l A T 5: 41,821,873 Y699* probably null Het
Car12 C T 9: 66,751,962 S183L probably damaging Het
Cep290 T C 10: 100,488,628 S57P probably damaging Het
Cep57l1 T C 10: 41,743,149 D74G probably damaging Het
Cers6 T C 2: 69,108,559 Y374H possibly damaging Het
Chmp4c T A 3: 10,367,135 M35K possibly damaging Het
Crkl G A 16: 17,483,781 D300N probably damaging Het
Cyp3a41a A G 5: 145,705,829 M240T probably benign Het
Dnah12 G T 14: 26,801,513 L1986F probably damaging Het
Dnah8 T C 17: 30,648,465 I297T probably benign Het
Dock10 T A 1: 80,531,245 I1610F probably damaging Het
Dpys T A 15: 39,857,163 H67L probably damaging Het
Epc2 T G 2: 49,532,087 V331G probably benign Het
Fnbp1l G A 3: 122,546,307 R344* probably null Het
Gm8765 A C 13: 50,703,095 H923P probably damaging Het
Gmip G T 8: 69,811,174 L89F possibly damaging Het
Gmip G C 8: 69,811,176 R90P probably damaging Het
Gpi1 A G 7: 34,228,990 S74P probably damaging Het
Gys1 G A 7: 45,444,678 E406K probably damaging Het
Hspg2 G A 4: 137,515,307 G611E probably damaging Het
Klhl29 C T 12: 5,084,393 V673M probably damaging Het
Loxl4 T C 19: 42,608,353 D60G probably damaging Het
Lrr1 T C 12: 69,174,675 I197T probably damaging Het
Map1lc3b A G 8: 121,593,577 N43S probably benign Het
Map3k21 A T 8: 125,939,866 D599V probably benign Het
Mastl T C 2: 23,133,698 N338D probably benign Het
Mepe A T 5: 104,338,208 R405* probably null Het
Mrps30 T C 13: 118,380,372 E437G probably benign Het
Mup15 A G 4: 61,438,228 V100A possibly damaging Het
Olfml1 A T 7: 107,567,868 I35F probably damaging Het
Olfml2a T A 2: 38,960,226 Y651* probably null Het
Olfr93 T A 17: 37,151,822 D50V probably damaging Het
Otog T C 7: 46,298,317 V113A probably damaging Het
Parvg C T 15: 84,326,263 L44F possibly damaging Het
Pcnx2 G T 8: 125,772,100 D1553E probably damaging Het
Pcyt2 C T 11: 120,614,374 G122S probably damaging Het
Pi4ka A G 16: 17,376,982 L184P possibly damaging Het
Polq C T 16: 37,077,148 T2134I probably damaging Het
Prkce T G 17: 86,630,061 F641V probably damaging Het
Prss1 T C 6: 41,463,720 I243T possibly damaging Het
Pxmp2 A G 5: 110,281,319 F91L probably benign Het
Ralgapb G A 2: 158,436,566 G5R probably damaging Het
Rasgef1a T G 6: 118,087,213 M337R possibly damaging Het
Rassf2 A G 2: 132,002,925 M199T probably damaging Het
Rtbdn A T 8: 84,952,674 Y67F probably null Het
Scamp3 T C 3: 89,181,949 V271A probably benign Het
Sema3a A T 5: 13,597,616 R613W possibly damaging Het
Slc4a3 A T 1: 75,551,315 I206F probably damaging Het
Slc9b1 A G 3: 135,357,757 probably null Het
Smchd1 C A 17: 71,475,101 V22F probably benign Het
Smg1 A G 7: 118,184,571 probably benign Het
Stab1 A G 14: 31,139,160 L89P probably damaging Het
Stim1 A G 7: 102,427,291 E152G probably damaging Het
Tenm3 A G 8: 48,674,493 F50S probably damaging Het
Tpgs2 T G 18: 25,129,870 N231H probably benign Het
Trank1 T A 9: 111,390,679 N2161K probably damaging Het
Trim28 A G 7: 13,025,346 D129G probably benign Het
Trim66 A T 7: 109,477,754 I326N probably damaging Het
Trim80 A T 11: 115,448,017 T558S probably benign Het
Uggt1 T A 1: 36,230,688 T83S probably benign Het
Wdr91 A G 6: 34,886,819 I587T probably damaging Het
Zpld1 A T 16: 55,232,240 V337D possibly damaging Het
Other mutations in Lnpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Lnpk APN 2 74529717 missense probably damaging 1.00
IGL02653:Lnpk APN 2 74548048 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
Predicted Primers PCR Primer
(F):5'- CGTACGTGTGCATGCTTAAG -3'
(R):5'- TACATCTTCTTGAACAAGATTCTGG -3'

Sequencing Primer
(F):5'- ACGTGTGCATGCTTAAGAATCTG -3'
(R):5'- ACGGCTTCCAGAGTTTAG -3'
Posted On2018-08-29