Incidental Mutation 'R5426:Nlrp5'
ID 426881
Institutional Source Beutler Lab
Gene Symbol Nlrp5
Ensembl Gene ENSMUSG00000015721
Gene Name NLR family, pyrin domain containing 5
Synonyms Mater, Nalp5, Op1
MMRRC Submission 042992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R5426 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 23385889-23441922 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23418201 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 450 (V450A)
Ref Sequence ENSEMBL: ENSMUSP00000122007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015866] [ENSMUST00000086341] [ENSMUST00000108441] [ENSMUST00000133237] [ENSMUST00000139661]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000015866
AA Change: V450A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: V450A

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: V434A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: V434A

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 damaging
Transcript: ENSMUST00000108441
AA Change: V450A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: V450A

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 damaging
Transcript: ENSMUST00000133237
AA Change: V450A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: V450A

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 damaging
Transcript: ENSMUST00000139661
AA Change: V450A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: V450A

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.6e-44 PFAM
Blast:LRR 691 718 8e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207536
Meta Mutation Damage Score 0.1910 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (85/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,294,003 (GRCm38) H122L probably damaging Het
9330182O14Rik G A 15: 40,148,537 (GRCm38) D91N unknown Het
9330182O14Rik G A 15: 40,148,536 (GRCm38) M90I unknown Het
Abca13 T A 11: 9,290,722 (GRCm38) S862T probably damaging Het
Acyp2 C T 11: 30,506,354 (GRCm38) E98K possibly damaging Het
Adgb C A 10: 10,350,260 (GRCm38) A1405S probably benign Het
Adpgk T A 9: 59,297,549 (GRCm38) V86E probably damaging Het
Agfg2 G C 5: 137,667,758 (GRCm38) P80A probably damaging Het
Akap11 G A 14: 78,498,864 (GRCm38) Q1829* probably null Het
Aldh1l1 G A 6: 90,559,299 (GRCm38) R62Q probably benign Het
Als2cr12 T A 1: 58,666,886 (GRCm38) K275* probably null Het
Amd1 G T 10: 40,290,187 (GRCm38) D265E probably damaging Het
Aox4 A T 1: 58,220,094 (GRCm38) Q106L probably damaging Het
Arap2 A T 5: 62,642,816 (GRCm38) N1289K probably benign Het
Arhgef12 T C 9: 42,986,584 (GRCm38) S874G probably damaging Het
BC067074 G A 13: 113,369,053 (GRCm38) V2239I probably benign Het
C87499 T A 4: 88,629,410 (GRCm38) probably benign Het
Ccdc166 T C 15: 75,982,096 (GRCm38) Q45R possibly damaging Het
Cdc45 C T 16: 18,795,897 (GRCm38) R205H probably damaging Het
Cdk14 A G 5: 4,888,975 (GRCm38) S388P possibly damaging Het
Chgb A T 2: 132,793,533 (GRCm38) Q465L possibly damaging Het
Commd9 T A 2: 101,898,875 (GRCm38) W109R probably damaging Het
Cyp2b9 T C 7: 26,187,655 (GRCm38) V163A probably benign Het
Dcpp2 T A 17: 23,899,313 (GRCm38) H27Q possibly damaging Het
Ddn T A 15: 98,806,466 (GRCm38) E315V possibly damaging Het
Defb29 C A 2: 152,538,948 (GRCm38) C47F probably damaging Het
Dnah7b T C 1: 46,242,206 (GRCm38) M2809T possibly damaging Het
Dock4 A T 12: 40,745,745 (GRCm38) I854F probably damaging Het
Dsg4 T C 18: 20,458,484 (GRCm38) Y427H probably damaging Het
E130114P18Rik C T 4: 97,690,670 (GRCm38) A23T unknown Het
Gemin5 A G 11: 58,125,287 (GRCm38) S1297P probably benign Het
Gm10309 A C 17: 86,498,733 (GRCm38) probably benign Het
Gm884 A T 11: 103,620,760 (GRCm38) H127Q unknown Het
Gpatch11 T A 17: 78,841,234 (GRCm38) S155R possibly damaging Het
Grin2b C A 6: 135,732,368 (GRCm38) Q1393H probably damaging Het
Heatr5b C T 17: 78,773,713 (GRCm38) C1370Y probably damaging Het
Hmcn2 C T 2: 31,336,544 (GRCm38) T177I possibly damaging Het
Ildr1 A T 16: 36,709,619 (GRCm38) I123F probably damaging Het
Kalrn A T 16: 34,262,653 (GRCm38) V644D probably damaging Het
Kifap3 A G 1: 163,779,871 (GRCm38) M1V probably null Het
Klhl11 A G 11: 100,464,116 (GRCm38) L293P probably damaging Het
Klrc3 G A 6: 129,641,550 (GRCm38) S98L probably benign Het
Med12l G A 3: 59,248,722 (GRCm38) M1220I probably damaging Het
Ms4a7 C T 19: 11,325,802 (GRCm38) probably null Het
Mybpc2 A G 7: 44,509,829 (GRCm38) V599A probably benign Het
Naalad2 T C 9: 18,347,519 (GRCm38) N487D probably benign Het
Nat8f7 T G 6: 85,707,823 (GRCm38) S12R probably benign Het
Nefm T A 14: 68,120,066 (GRCm38) probably benign Het
Nps G A 7: 135,268,647 (GRCm38) probably null Het
Olfr1247 T C 2: 89,609,739 (GRCm38) Y121C probably damaging Het
Olfr142 T A 2: 90,252,611 (GRCm38) K126* probably null Het
Olfr159 A G 4: 43,770,168 (GRCm38) I281T probably benign Het
Olfr192 G T 16: 59,098,302 (GRCm38) P230Q possibly damaging Het
Olfr492 T C 7: 108,322,810 (GRCm38) N289D probably damaging Het
Olfr513 T C 7: 108,755,717 (GRCm38) L287P possibly damaging Het
Olfr698 C A 7: 106,752,566 (GRCm38) S274I probably benign Het
Oxct2a C A 4: 123,322,713 (GRCm38) G292W possibly damaging Het
Prr27 T C 5: 87,850,885 (GRCm38) probably benign Het
Ptx3 T C 3: 66,220,722 (GRCm38) M68T probably damaging Het
Rufy1 A G 11: 50,421,734 (GRCm38) L131S probably damaging Het
Sept7 T A 9: 25,286,690 (GRCm38) I100N possibly damaging Het
Sgms2 T C 3: 131,341,797 (GRCm38) I143V probably benign Het
Slc25a34 A G 4: 141,623,566 (GRCm38) V44A probably damaging Het
Slc28a3 T A 13: 58,563,154 (GRCm38) D518V probably damaging Het
Slc6a7 C T 18: 61,003,236 (GRCm38) probably null Het
Slco4a1 C A 2: 180,471,235 (GRCm38) A420D possibly damaging Het
Smap1 T C 1: 23,849,390 (GRCm38) T180A probably benign Het
Specc1l T C 10: 75,267,550 (GRCm38) S920P probably benign Het
Tgtp2 A G 11: 49,059,256 (GRCm38) M163T probably benign Het
Tiam1 G T 16: 89,865,392 (GRCm38) Q613K possibly damaging Het
Vsig10l T A 7: 43,464,823 (GRCm38) S190T probably damaging Het
Vwa3b A G 1: 37,115,671 (GRCm38) Y512C probably damaging Het
Wdfy3 T A 5: 101,919,446 (GRCm38) N1207Y probably damaging Het
Wdr17 C T 8: 54,681,399 (GRCm38) G349R probably damaging Het
Wdr70 A G 15: 7,922,105 (GRCm38) L417S possibly damaging Het
Wdr81 A C 11: 75,450,896 (GRCm38) S1182A possibly damaging Het
Zfp458 A T 13: 67,257,192 (GRCm38) C391* probably null Het
Zfp638 A G 6: 83,976,414 (GRCm38) E1167G probably damaging Het
Zfp763 T A 17: 33,019,595 (GRCm38) D192V probably benign Het
Zfp853 T G 5: 143,288,869 (GRCm38) Q332P unknown Het
Other mutations in Nlrp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Nlrp5 APN 7 23,441,788 (GRCm38) missense probably damaging 1.00
IGL01393:Nlrp5 APN 7 23,404,174 (GRCm38) missense probably null 0.04
IGL01505:Nlrp5 APN 7 23,417,734 (GRCm38) missense probably benign 0.15
IGL02010:Nlrp5 APN 7 23,417,372 (GRCm38) missense probably benign 0.04
IGL02223:Nlrp5 APN 7 23,430,022 (GRCm38) splice site probably benign
IGL02341:Nlrp5 APN 7 23,404,152 (GRCm38) missense probably benign 0.43
IGL02532:Nlrp5 APN 7 23,409,973 (GRCm38) missense possibly damaging 0.70
IGL02619:Nlrp5 APN 7 23,424,064 (GRCm38) critical splice donor site probably null
IGL02659:Nlrp5 APN 7 23,418,581 (GRCm38) missense probably damaging 1.00
IGL02828:Nlrp5 APN 7 23,421,460 (GRCm38) missense possibly damaging 0.81
IGL03018:Nlrp5 APN 7 23,417,747 (GRCm38) missense probably benign 0.06
IGL03164:Nlrp5 APN 7 23,418,373 (GRCm38) nonsense probably null
IGL03397:Nlrp5 APN 7 23,413,334 (GRCm38) missense probably damaging 1.00
IGL03404:Nlrp5 APN 7 23,430,034 (GRCm38) missense probably benign 0.00
R0310:Nlrp5 UTSW 7 23,430,157 (GRCm38) missense probably damaging 0.99
R0549:Nlrp5 UTSW 7 23,441,802 (GRCm38) missense probably damaging 1.00
R0573:Nlrp5 UTSW 7 23,417,631 (GRCm38) missense probably damaging 1.00
R0647:Nlrp5 UTSW 7 23,417,707 (GRCm38) missense probably damaging 1.00
R0675:Nlrp5 UTSW 7 23,417,417 (GRCm38) missense possibly damaging 0.53
R0826:Nlrp5 UTSW 7 23,417,708 (GRCm38) missense probably benign 0.13
R1511:Nlrp5 UTSW 7 23,413,347 (GRCm38) missense probably damaging 0.99
R1620:Nlrp5 UTSW 7 23,418,639 (GRCm38) missense probably damaging 1.00
R1858:Nlrp5 UTSW 7 23,418,161 (GRCm38) missense probably damaging 0.98
R1867:Nlrp5 UTSW 7 23,423,982 (GRCm38) missense possibly damaging 0.85
R1887:Nlrp5 UTSW 7 23,417,484 (GRCm38) missense probably damaging 1.00
R1899:Nlrp5 UTSW 7 23,404,797 (GRCm38) missense probably benign 0.00
R1901:Nlrp5 UTSW 7 23,423,910 (GRCm38) missense possibly damaging 0.94
R2032:Nlrp5 UTSW 7 23,421,512 (GRCm38) missense probably damaging 1.00
R3083:Nlrp5 UTSW 7 23,430,163 (GRCm38) missense probably benign 0.03
R3806:Nlrp5 UTSW 7 23,404,846 (GRCm38) missense probably benign
R3907:Nlrp5 UTSW 7 23,433,646 (GRCm38) missense possibly damaging 0.48
R4085:Nlrp5 UTSW 7 23,430,098 (GRCm38) missense probably damaging 0.97
R4135:Nlrp5 UTSW 7 23,418,398 (GRCm38) missense possibly damaging 0.92
R4609:Nlrp5 UTSW 7 23,417,748 (GRCm38) missense probably benign 0.01
R4649:Nlrp5 UTSW 7 23,418,178 (GRCm38) missense probably damaging 1.00
R4780:Nlrp5 UTSW 7 23,435,778 (GRCm38) missense probably damaging 1.00
R4793:Nlrp5 UTSW 7 23,417,630 (GRCm38) missense probably damaging 0.97
R5062:Nlrp5 UTSW 7 23,435,910 (GRCm38) nonsense probably null
R5224:Nlrp5 UTSW 7 23,417,976 (GRCm38) missense probably damaging 1.00
R5364:Nlrp5 UTSW 7 23,418,328 (GRCm38) nonsense probably null
R5488:Nlrp5 UTSW 7 23,417,934 (GRCm38) missense probably benign 0.03
R5762:Nlrp5 UTSW 7 23,418,839 (GRCm38) missense possibly damaging 0.89
R6014:Nlrp5 UTSW 7 23,409,947 (GRCm38) missense probably benign 0.02
R6130:Nlrp5 UTSW 7 23,404,173 (GRCm38) missense probably benign 0.00
R6277:Nlrp5 UTSW 7 23,421,455 (GRCm38) missense probably damaging 1.00
R6509:Nlrp5 UTSW 7 23,417,916 (GRCm38) missense probably damaging 1.00
R6519:Nlrp5 UTSW 7 23,417,918 (GRCm38) missense probably benign 0.22
R7042:Nlrp5 UTSW 7 23,417,480 (GRCm38) missense possibly damaging 0.52
R7253:Nlrp5 UTSW 7 23,417,391 (GRCm38) missense possibly damaging 0.93
R7336:Nlrp5 UTSW 7 23,417,634 (GRCm38) missense probably damaging 0.98
R7371:Nlrp5 UTSW 7 23,418,423 (GRCm38) missense probably damaging 0.99
R7449:Nlrp5 UTSW 7 23,417,526 (GRCm38) missense probably benign 0.00
R7505:Nlrp5 UTSW 7 23,407,500 (GRCm38) missense probably benign 0.01
R7580:Nlrp5 UTSW 7 23,433,749 (GRCm38) missense probably damaging 1.00
R7588:Nlrp5 UTSW 7 23,408,151 (GRCm38) missense probably benign 0.21
R7793:Nlrp5 UTSW 7 23,423,918 (GRCm38) missense possibly damaging 0.87
R7795:Nlrp5 UTSW 7 23,418,794 (GRCm38) missense possibly damaging 0.78
R7893:Nlrp5 UTSW 7 23,418,165 (GRCm38) missense probably benign 0.12
R8071:Nlrp5 UTSW 7 23,418,444 (GRCm38) missense probably damaging 1.00
R8170:Nlrp5 UTSW 7 23,433,710 (GRCm38) missense probably benign 0.17
R8195:Nlrp5 UTSW 7 23,413,337 (GRCm38) missense probably benign 0.00
R8212:Nlrp5 UTSW 7 23,417,337 (GRCm38) missense probably benign 0.02
R8232:Nlrp5 UTSW 7 23,417,345 (GRCm38) missense probably benign 0.00
R8743:Nlrp5 UTSW 7 23,418,747 (GRCm38) missense probably benign 0.28
R8853:Nlrp5 UTSW 7 23,418,300 (GRCm38) missense possibly damaging 0.94
R9030:Nlrp5 UTSW 7 23,430,148 (GRCm38) missense possibly damaging 0.65
R9225:Nlrp5 UTSW 7 23,417,946 (GRCm38) missense probably benign 0.24
R9463:Nlrp5 UTSW 7 23,418,800 (GRCm38) missense probably benign 0.24
R9615:Nlrp5 UTSW 7 23,408,136 (GRCm38) missense probably benign 0.10
R9647:Nlrp5 UTSW 7 23,408,151 (GRCm38) missense probably benign 0.12
R9664:Nlrp5 UTSW 7 23,418,861 (GRCm38) missense probably benign 0.01
R9744:Nlrp5 UTSW 7 23,421,477 (GRCm38) missense possibly damaging 0.80
RF007:Nlrp5 UTSW 7 23,418,161 (GRCm38) missense probably benign 0.16
U24488:Nlrp5 UTSW 7 23,418,228 (GRCm38) missense possibly damaging 0.94
X0026:Nlrp5 UTSW 7 23,417,498 (GRCm38) nonsense probably null
X0062:Nlrp5 UTSW 7 23,417,990 (GRCm38) nonsense probably null
Z1088:Nlrp5 UTSW 7 23,417,586 (GRCm38) missense probably damaging 1.00
Z1088:Nlrp5 UTSW 7 23,404,167 (GRCm38) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGCTGTTTGACCAATGCCAG -3'
(R):5'- TATAAGGCAGCAAAGAAATCCTGC -3'

Sequencing Primer
(F):5'- TCTGTGAGGCTCTACAGCTACAG -3'
(R):5'- AATCCTGCAGGCTGAGGTG -3'
Posted On 2016-09-01