Incidental Mutation 'IGL02532:Nlrp5'
ID 297334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp5
Ensembl Gene ENSMUSG00000015721
Gene Name NLR family, pyrin domain containing 5
Synonyms Mater, Op1, Nalp5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02532
Quality Score
Status
Chromosome 7
Chromosomal Location 23085314-23141347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23109398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 115 (S115T)
Ref Sequence ENSEMBL: ENSMUSP00000104080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015866] [ENSMUST00000086341] [ENSMUST00000108441] [ENSMUST00000133237] [ENSMUST00000139661]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015866
AA Change: S115T

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: S115T

DomainStartEndE-ValueType
Pfam:NACHT 191 359 3.5e-45 PFAM
LRR 691 718 4.51e1 SMART
LRR 747 774 1.36e-2 SMART
LRR 776 803 6.79e0 SMART
LRR 804 831 4.3e0 SMART
LRR 833 860 1.42e0 SMART
LRR 861 888 1.2e-3 SMART
LRR 890 917 1.2e2 SMART
LRR 918 945 2.2e-2 SMART
LRR 947 974 1.56e2 SMART
LRR 975 1002 3.36e-7 SMART
LRR 1004 1031 6.04e1 SMART
LRR 1032 1059 1.99e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086341
AA Change: S115T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: S115T

DomainStartEndE-ValueType
Pfam:NACHT 175 343 1.5e-44 PFAM
LRR 675 702 4.51e1 SMART
LRR 731 758 1.36e-2 SMART
LRR 760 787 6.79e0 SMART
LRR 788 815 4.3e0 SMART
LRR 817 844 1.42e0 SMART
LRR 845 872 1.2e-3 SMART
LRR 874 901 1.2e2 SMART
LRR 902 929 2.2e-2 SMART
LRR 931 958 1.56e2 SMART
LRR 959 986 3.36e-7 SMART
LRR 988 1015 6.04e1 SMART
LRR 1016 1043 1.99e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108441
AA Change: S115T

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: S115T

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.5e-44 PFAM
LRR 691 718 4.51e1 SMART
LRR 747 774 1.36e-2 SMART
LRR 776 803 6.79e0 SMART
LRR 804 831 4.3e0 SMART
LRR 833 860 1.42e0 SMART
LRR 861 888 1.2e-3 SMART
LRR 890 917 1.2e2 SMART
LRR 918 945 2.2e-2 SMART
LRR 947 974 1.56e2 SMART
LRR 975 1002 3.36e-7 SMART
LRR 1004 1033 1.28e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133237
AA Change: S115T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: S115T

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.3e-44 PFAM
LRR 691 718 4.51e1 SMART
LRR 747 774 1.36e-2 SMART
LRR 776 803 6.79e0 SMART
LRR 804 831 4.3e0 SMART
LRR 833 860 1.42e0 SMART
LRR 861 888 1.2e-3 SMART
LRR 890 917 1.2e2 SMART
LRR 918 945 2.2e-2 SMART
LRR 947 974 1.56e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139661
AA Change: S115T

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: S115T

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.6e-44 PFAM
Blast:LRR 691 718 8e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180171
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the NACHT, leucine-rich repeat, and pyrin domain containing family. Members of this family have a pyrin domain at the N-terminus, a central NACHT domain, and a C-terminal leucine-rich repeat domain. This gene encodes a maternal-effect factor that is essential for early embryonic development in the mouse. Homozygous null mutant females are sterile, and embryos die following the first cleavage. This gene is required for endoplasmic reticulum redistribution and calcium homeostasis in oocytes. In addition, ovulated oocytes mutant for this gene have abnormal mitochondrial localization and increased mitochondrial activity, which results in mitochondrial damage and early embryonic lethality. Pseudogenes of this gene have been found on chromosomes 7 and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik T C 7: 28,947,645 (GRCm39) K15E possibly damaging Het
Abca2 A G 2: 25,325,148 (GRCm39) T381A probably benign Het
Adcy1 T A 11: 7,094,737 (GRCm39) N554K probably benign Het
Adcy5 A G 16: 35,092,453 (GRCm39) I605V possibly damaging Het
Arhgap11a G T 2: 113,664,021 (GRCm39) S754* probably null Het
Arhgef28 T A 13: 98,166,391 (GRCm39) D319V probably damaging Het
Brca2 A G 5: 150,474,327 (GRCm39) D2410G probably damaging Het
Carmil2 T A 8: 106,419,063 (GRCm39) probably null Het
Catip A G 1: 74,403,775 (GRCm39) N189S probably damaging Het
Cd177 T C 7: 24,444,674 (GRCm39) K636E probably benign Het
Cep290 A G 10: 100,380,927 (GRCm39) T145A probably benign Het
Cthrc1 T C 15: 38,940,560 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fas C A 19: 34,293,999 (GRCm39) T118N probably damaging Het
Fgd3 G A 13: 49,439,237 (GRCm39) A253V probably damaging Het
Fig4 A G 10: 41,161,277 (GRCm39) probably benign Het
Fubp3 T C 2: 31,490,571 (GRCm39) probably benign Het
Gria2 T A 3: 80,614,306 (GRCm39) E578V probably damaging Het
Gtpbp1 T A 15: 79,604,278 (GRCm39) V662E probably benign Het
Hbb-bt T C 7: 103,463,081 (GRCm39) probably benign Het
Ighv6-5 T A 12: 114,380,424 (GRCm39) D50V probably benign Het
Inpp5k T C 11: 75,524,010 (GRCm39) probably benign Het
Kalrn T C 16: 34,181,216 (GRCm39) N141D probably damaging Het
Kbtbd8 A G 6: 95,103,517 (GRCm39) T389A probably benign Het
Klhl6 C A 16: 19,775,832 (GRCm39) R242L possibly damaging Het
Kmt2b T C 7: 30,286,314 (GRCm39) probably benign Het
Krt13 A T 11: 100,010,195 (GRCm39) L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 (GRCm39) K270E possibly damaging Het
Mroh7 A G 4: 106,577,788 (GRCm39) S297P probably benign Het
Ndufs1 G A 1: 63,209,298 (GRCm39) R22C probably damaging Het
Nup50l A C 6: 96,141,771 (GRCm39) S424R probably damaging Het
Pfpl A T 19: 12,406,209 (GRCm39) R153S probably damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Psme1 T A 14: 55,818,595 (GRCm39) Y223* probably null Het
R3hdm1 T C 1: 128,124,836 (GRCm39) probably null Het
Rnf103 A G 6: 71,486,809 (GRCm39) D480G probably benign Het
Rnf103 T G 6: 71,486,636 (GRCm39) S422R probably damaging Het
Rps6ka2 T C 17: 7,523,365 (GRCm39) V213A probably damaging Het
Sort1 G T 3: 108,233,036 (GRCm39) K203N probably benign Het
Sugp1 A T 8: 70,512,469 (GRCm39) K239N possibly damaging Het
Sult2a8 C T 7: 14,150,183 (GRCm39) R176K probably benign Het
Usp34 T A 11: 23,320,291 (GRCm39) N888K probably damaging Het
Vmn1r4 A C 6: 56,934,135 (GRCm39) H213P possibly damaging Het
Wdr45b G T 11: 121,219,639 (GRCm39) T303K probably benign Het
Other mutations in Nlrp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Nlrp5 APN 7 23,141,213 (GRCm39) missense probably damaging 1.00
IGL01393:Nlrp5 APN 7 23,103,599 (GRCm39) missense probably null 0.04
IGL01505:Nlrp5 APN 7 23,117,159 (GRCm39) missense probably benign 0.15
IGL02010:Nlrp5 APN 7 23,116,797 (GRCm39) missense probably benign 0.04
IGL02223:Nlrp5 APN 7 23,129,447 (GRCm39) splice site probably benign
IGL02341:Nlrp5 APN 7 23,103,577 (GRCm39) missense probably benign 0.43
IGL02619:Nlrp5 APN 7 23,123,489 (GRCm39) critical splice donor site probably null
IGL02659:Nlrp5 APN 7 23,118,006 (GRCm39) missense probably damaging 1.00
IGL02828:Nlrp5 APN 7 23,120,885 (GRCm39) missense possibly damaging 0.81
IGL03018:Nlrp5 APN 7 23,117,172 (GRCm39) missense probably benign 0.06
IGL03164:Nlrp5 APN 7 23,117,798 (GRCm39) nonsense probably null
IGL03397:Nlrp5 APN 7 23,112,759 (GRCm39) missense probably damaging 1.00
IGL03404:Nlrp5 APN 7 23,129,459 (GRCm39) missense probably benign 0.00
R0310:Nlrp5 UTSW 7 23,129,582 (GRCm39) missense probably damaging 0.99
R0549:Nlrp5 UTSW 7 23,141,227 (GRCm39) missense probably damaging 1.00
R0573:Nlrp5 UTSW 7 23,117,056 (GRCm39) missense probably damaging 1.00
R0647:Nlrp5 UTSW 7 23,117,132 (GRCm39) missense probably damaging 1.00
R0675:Nlrp5 UTSW 7 23,116,842 (GRCm39) missense possibly damaging 0.53
R0826:Nlrp5 UTSW 7 23,117,133 (GRCm39) missense probably benign 0.13
R1511:Nlrp5 UTSW 7 23,112,772 (GRCm39) missense probably damaging 0.99
R1620:Nlrp5 UTSW 7 23,118,064 (GRCm39) missense probably damaging 1.00
R1858:Nlrp5 UTSW 7 23,117,586 (GRCm39) missense probably damaging 0.98
R1867:Nlrp5 UTSW 7 23,123,407 (GRCm39) missense possibly damaging 0.85
R1887:Nlrp5 UTSW 7 23,116,909 (GRCm39) missense probably damaging 1.00
R1899:Nlrp5 UTSW 7 23,104,222 (GRCm39) missense probably benign 0.00
R1901:Nlrp5 UTSW 7 23,123,335 (GRCm39) missense possibly damaging 0.94
R2032:Nlrp5 UTSW 7 23,120,937 (GRCm39) missense probably damaging 1.00
R3083:Nlrp5 UTSW 7 23,129,588 (GRCm39) missense probably benign 0.03
R3806:Nlrp5 UTSW 7 23,104,271 (GRCm39) missense probably benign
R3907:Nlrp5 UTSW 7 23,133,071 (GRCm39) missense possibly damaging 0.48
R4085:Nlrp5 UTSW 7 23,129,523 (GRCm39) missense probably damaging 0.97
R4135:Nlrp5 UTSW 7 23,117,823 (GRCm39) missense possibly damaging 0.92
R4609:Nlrp5 UTSW 7 23,117,173 (GRCm39) missense probably benign 0.01
R4649:Nlrp5 UTSW 7 23,117,603 (GRCm39) missense probably damaging 1.00
R4780:Nlrp5 UTSW 7 23,135,203 (GRCm39) missense probably damaging 1.00
R4793:Nlrp5 UTSW 7 23,117,055 (GRCm39) missense probably damaging 0.97
R5062:Nlrp5 UTSW 7 23,135,335 (GRCm39) nonsense probably null
R5224:Nlrp5 UTSW 7 23,117,401 (GRCm39) missense probably damaging 1.00
R5364:Nlrp5 UTSW 7 23,117,753 (GRCm39) nonsense probably null
R5426:Nlrp5 UTSW 7 23,117,626 (GRCm39) missense probably damaging 1.00
R5488:Nlrp5 UTSW 7 23,117,359 (GRCm39) missense probably benign 0.03
R5762:Nlrp5 UTSW 7 23,118,264 (GRCm39) missense possibly damaging 0.89
R6014:Nlrp5 UTSW 7 23,109,372 (GRCm39) missense probably benign 0.02
R6130:Nlrp5 UTSW 7 23,103,598 (GRCm39) missense probably benign 0.00
R6277:Nlrp5 UTSW 7 23,120,880 (GRCm39) missense probably damaging 1.00
R6509:Nlrp5 UTSW 7 23,117,341 (GRCm39) missense probably damaging 1.00
R6519:Nlrp5 UTSW 7 23,117,343 (GRCm39) missense probably benign 0.22
R7042:Nlrp5 UTSW 7 23,116,905 (GRCm39) missense possibly damaging 0.52
R7253:Nlrp5 UTSW 7 23,116,816 (GRCm39) missense possibly damaging 0.93
R7336:Nlrp5 UTSW 7 23,117,059 (GRCm39) missense probably damaging 0.98
R7371:Nlrp5 UTSW 7 23,117,848 (GRCm39) missense probably damaging 0.99
R7449:Nlrp5 UTSW 7 23,116,951 (GRCm39) missense probably benign 0.00
R7505:Nlrp5 UTSW 7 23,106,925 (GRCm39) missense probably benign 0.01
R7580:Nlrp5 UTSW 7 23,133,174 (GRCm39) missense probably damaging 1.00
R7588:Nlrp5 UTSW 7 23,107,576 (GRCm39) missense probably benign 0.21
R7793:Nlrp5 UTSW 7 23,123,343 (GRCm39) missense possibly damaging 0.87
R7795:Nlrp5 UTSW 7 23,118,219 (GRCm39) missense possibly damaging 0.78
R7893:Nlrp5 UTSW 7 23,117,590 (GRCm39) missense probably benign 0.12
R8071:Nlrp5 UTSW 7 23,117,869 (GRCm39) missense probably damaging 1.00
R8170:Nlrp5 UTSW 7 23,133,135 (GRCm39) missense probably benign 0.17
R8195:Nlrp5 UTSW 7 23,112,762 (GRCm39) missense probably benign 0.00
R8212:Nlrp5 UTSW 7 23,116,762 (GRCm39) missense probably benign 0.02
R8232:Nlrp5 UTSW 7 23,116,770 (GRCm39) missense probably benign 0.00
R8743:Nlrp5 UTSW 7 23,118,172 (GRCm39) missense probably benign 0.28
R8853:Nlrp5 UTSW 7 23,117,725 (GRCm39) missense possibly damaging 0.94
R9030:Nlrp5 UTSW 7 23,129,573 (GRCm39) missense possibly damaging 0.65
R9225:Nlrp5 UTSW 7 23,117,371 (GRCm39) missense probably benign 0.24
R9463:Nlrp5 UTSW 7 23,118,225 (GRCm39) missense probably benign 0.24
R9615:Nlrp5 UTSW 7 23,107,561 (GRCm39) missense probably benign 0.10
R9647:Nlrp5 UTSW 7 23,107,576 (GRCm39) missense probably benign 0.12
R9664:Nlrp5 UTSW 7 23,118,286 (GRCm39) missense probably benign 0.01
R9744:Nlrp5 UTSW 7 23,120,902 (GRCm39) missense possibly damaging 0.80
RF007:Nlrp5 UTSW 7 23,117,586 (GRCm39) missense probably benign 0.16
U24488:Nlrp5 UTSW 7 23,117,653 (GRCm39) missense possibly damaging 0.94
X0026:Nlrp5 UTSW 7 23,116,923 (GRCm39) nonsense probably null
X0062:Nlrp5 UTSW 7 23,117,415 (GRCm39) nonsense probably null
Z1088:Nlrp5 UTSW 7 23,117,011 (GRCm39) missense probably damaging 1.00
Z1088:Nlrp5 UTSW 7 23,103,592 (GRCm39) missense possibly damaging 0.82
Posted On 2015-04-16