Incidental Mutation 'R7253:Nlrp5'
ID 564070
Institutional Source Beutler Lab
Gene Symbol Nlrp5
Ensembl Gene ENSMUSG00000015721
Gene Name NLR family, pyrin domain containing 5
Synonyms Mater, Op1, Nalp5
MMRRC Submission 045314-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7253 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 23085314-23141347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23116816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 180 (A180V)
Ref Sequence ENSEMBL: ENSMUSP00000015866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015866] [ENSMUST00000086341] [ENSMUST00000108441] [ENSMUST00000133237] [ENSMUST00000139661]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000015866
AA Change: A180V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: A180V

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 damaging
Transcript: ENSMUST00000086341
AA Change: A164V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: A164V

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 probably benign
Transcript: ENSMUST00000108441
AA Change: A180V

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: A180V

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: A180V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: A180V

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 possibly damaging
Transcript: ENSMUST00000139661
AA Change: A180V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: A180V

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.6e-44 PFAM
Blast:LRR 691 718 8e-9 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (74/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,451,391 (GRCm39) H199R not run Het
Ak9 A G 10: 41,308,480 (GRCm39) N1804S unknown Het
Akr1c21 C A 13: 4,627,139 (GRCm39) T147N probably damaging Het
Aldh1a2 A G 9: 71,123,216 (GRCm39) T30A probably benign Het
Alox15 T C 11: 70,236,724 (GRCm39) D447G probably damaging Het
Amigo2 T C 15: 97,142,956 (GRCm39) I489V probably benign Het
Ano9 A T 7: 140,687,350 (GRCm39) Y322N probably damaging Het
Arhgap40 G T 2: 158,389,576 (GRCm39) W583L probably benign Het
Atxn2 A G 5: 121,916,084 (GRCm39) E430G probably damaging Het
Brip1 T C 11: 86,034,104 (GRCm39) Y539C possibly damaging Het
C87436 T A 6: 86,442,790 (GRCm39) L454Q probably damaging Het
Casp4 T G 9: 5,324,868 (GRCm39) Y227D probably benign Het
Ccn6 T G 10: 39,031,031 (GRCm39) N164T probably benign Het
Chd4 T A 6: 125,083,555 (GRCm39) probably null Het
Chrna10 A G 7: 101,761,293 (GRCm39) C433R probably benign Het
Cntln A T 4: 85,036,710 (GRCm39) N214I probably damaging Het
Colec12 G A 18: 9,848,922 (GRCm39) V367I probably damaging Het
Cyp46a1 T C 12: 108,318,255 (GRCm39) I222T probably benign Het
Dagla A T 19: 10,239,945 (GRCm39) probably null Het
Dcaf7 C A 11: 105,938,669 (GRCm39) probably null Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
E2f7 A G 10: 110,602,164 (GRCm39) probably null Het
Fam184a G T 10: 53,574,901 (GRCm39) T236K probably benign Het
Glyctk T C 9: 106,032,661 (GRCm39) T451A probably damaging Het
Hectd4 A G 5: 121,452,944 (GRCm39) K484E possibly damaging Het
Hspbap1 G T 16: 35,637,600 (GRCm39) C243F unknown Het
Hspg2 A C 4: 137,247,257 (GRCm39) N1160T probably benign Het
Ighv5-8 C T 12: 113,618,728 (GRCm39) L48F probably benign Het
Jazf1 C A 6: 52,754,637 (GRCm39) E146D probably benign Het
Katnb1 C T 8: 95,822,125 (GRCm39) Q284* probably null Het
Kctd18 G T 1: 58,001,115 (GRCm39) Y213* probably null Het
Klk1b26 T C 7: 43,664,213 (GRCm39) S23P possibly damaging Het
Krt88 T C 15: 101,348,392 (GRCm39) L26P probably damaging Het
Lrrc8b G A 5: 105,629,522 (GRCm39) V623I probably benign Het
Map3k4 T A 17: 12,490,955 (GRCm39) M159L probably benign Het
Mast3 C A 8: 71,242,326 (GRCm39) probably null Het
Mier1 G A 4: 102,996,544 (GRCm39) probably null Het
Mrpl46 T C 7: 78,431,207 (GRCm39) D117G probably damaging Het
Ms4a6b A G 19: 11,497,760 (GRCm39) S20G probably benign Het
Mup10 A T 4: 60,538,077 (GRCm39) M4K unknown Het
Nlrx1 T A 9: 44,176,001 (GRCm39) probably null Het
Odad3 T C 9: 21,913,767 (GRCm39) T2A probably damaging Het
Or2a52 T C 6: 43,144,744 (GRCm39) F251L probably damaging Het
Or2t45 T C 11: 58,669,822 (GRCm39) Y290H probably damaging Het
Or4c103 T C 2: 88,513,969 (GRCm39) T36A possibly damaging Het
Or51aa2 C T 7: 103,187,995 (GRCm39) A149T probably benign Het
Or5af2 T A 11: 58,708,366 (GRCm39) C177* probably null Het
Or5ak22 A G 2: 85,229,983 (GRCm39) I298T probably benign Het
Otud1 C A 2: 19,663,742 (GRCm39) D290E probably damaging Het
Pank4 A G 4: 155,055,377 (GRCm39) N249S probably benign Het
Pccb G T 9: 100,913,966 (GRCm39) S84R probably benign Het
Pemt A T 11: 59,862,081 (GRCm39) H194Q possibly damaging Het
Phtf2 A G 5: 20,970,856 (GRCm39) I634T possibly damaging Het
Pias2 T G 18: 77,207,811 (GRCm39) I232R probably damaging Het
Plce1 A G 19: 38,686,952 (GRCm39) E620G probably damaging Het
Pramel17 A T 4: 101,692,725 (GRCm39) V425E probably benign Het
Ptpn13 G A 5: 103,713,150 (GRCm39) E1758K possibly damaging Het
Ptprq T A 10: 107,444,134 (GRCm39) Q1490L probably benign Het
Ptx3 G T 3: 66,132,368 (GRCm39) M296I probably benign Het
R3hdm2 C T 10: 127,317,644 (GRCm39) P464L probably damaging Het
Rapgef1 A G 2: 29,589,733 (GRCm39) E258G possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,122 (GRCm39) probably benign Het
Senp8 T C 9: 59,644,478 (GRCm39) N226S probably benign Het
Six5 C T 7: 18,828,901 (GRCm39) R114C probably damaging Het
Slc10a1 T C 12: 81,004,958 (GRCm39) T195A probably benign Het
Slpi G T 2: 164,197,467 (GRCm39) Q51K probably benign Het
Smarca4 T C 9: 21,570,256 (GRCm39) V753A probably benign Het
Tbc1d32 C A 10: 56,074,537 (GRCm39) M225I probably benign Het
Tent5a C A 9: 85,208,770 (GRCm39) G18C probably benign Het
Tnfrsf21 G A 17: 43,348,558 (GRCm39) V57I probably benign Het
Trim44 G T 2: 102,177,313 (GRCm39) P336T possibly damaging Het
Txlnb A G 10: 17,703,633 (GRCm39) I264V probably damaging Het
Xirp2 A C 2: 67,343,826 (GRCm39) E2022D probably benign Het
Zfp975 A G 7: 42,311,036 (GRCm39) *526R probably null Het
Zp1 A G 19: 10,893,933 (GRCm39) L424P probably damaging 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
IGL02532:Nlrp5 APN 7 23,109,398 (GRCm39) missense possibly damaging 0.70
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
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
Predicted Primers PCR Primer
(F):5'- CTGACTTAAAACCAAGGAGAGTATG -3'
(R):5'- GCTGTGCCAAACTGCTCTTC -3'

Sequencing Primer
(F):5'- AGAGTATGTGTGTGTCAACTCAC -3'
(R):5'- GTGCCAAACTGCTCTTCTCTGTC -3'
Posted On 2019-06-26