Incidental Mutation 'R9664:Nlrp5'
ID 735616
Institutional Source Beutler Lab
Gene Symbol Nlrp5
Ensembl Gene ENSMUSG00000015721
Gene Name NLR family, pyrin domain containing 5
Synonyms Mater, Op1, Nalp5
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R9664 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 23085314-23141347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23118286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 670 (E670G)
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 probably benign
Transcript: ENSMUST00000015866
AA Change: E670G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: E670G

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: E654G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: E654G

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: E670G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: E670G

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: E670G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: E670G

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: E670G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: E670G

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.6e-44 PFAM
Blast:LRR 691 718 8e-9 BLAST
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 G A 15: 76,478,383 (GRCm39) D277N probably damaging Het
Adgrv1 A T 13: 81,670,288 (GRCm39) S2353T probably benign Het
Adgrv1 A T 13: 81,743,371 (GRCm39) N43K probably damaging Het
Adnp2 A G 18: 80,185,937 (GRCm39) I12T probably damaging Het
Ahnak2 A G 12: 112,741,363 (GRCm39) L903P probably damaging Het
Ankhd1 T G 18: 36,780,878 (GRCm39) S1977A probably benign Het
Ap1m2 T C 9: 21,216,983 (GRCm39) M118V probably benign Het
Ap3d1 T C 10: 80,548,639 (GRCm39) K846R possibly damaging Het
Aqr C A 2: 113,971,396 (GRCm39) E480* probably null Het
Arl6 G T 16: 59,434,199 (GRCm39) Q182K probably benign Het
Arpc2 A G 1: 74,294,034 (GRCm39) K106E probably benign Het
Atp8a1 A C 5: 67,889,524 (GRCm39) F599V Het
B3galt5 A T 16: 96,117,203 (GRCm39) I279F probably damaging Het
Calcoco2 G T 11: 95,991,104 (GRCm39) A211D unknown Het
Ccdc33 T C 9: 57,993,855 (GRCm39) E342G possibly damaging Het
Ccdc88a C A 11: 29,405,484 (GRCm39) Q386K probably benign Het
Cdh20 A G 1: 104,862,065 (GRCm39) K82E probably benign Het
Clca3a2 A T 3: 144,503,575 (GRCm39) Y792N probably damaging Het
Col6a6 T C 9: 105,658,254 (GRCm39) I653V probably benign Het
Col7a1 C T 9: 108,812,649 (GRCm39) R2826W unknown Het
D6Ertd527e A G 6: 87,088,908 (GRCm39) N357S unknown Het
Dmgdh T A 13: 93,857,123 (GRCm39) N742K probably benign Het
Dnai3 T C 3: 145,748,594 (GRCm39) N840S probably benign Het
Dnajc6 A G 4: 101,475,821 (GRCm39) N565D probably benign Het
Doc2g A G 19: 4,054,390 (GRCm39) Y155C probably damaging Het
Dot1l G A 10: 80,624,361 (GRCm39) G943D probably damaging Het
Dst T C 1: 34,220,736 (GRCm39) V2180A probably benign Het
Eftud2 A C 11: 102,759,422 (GRCm39) Y160* probably null Het
Ehd1 A T 19: 6,331,262 (GRCm39) Q140L probably benign Het
Etv3 T C 3: 87,443,172 (GRCm39) V252A probably benign Het
F11 A T 8: 45,694,566 (GRCm39) C598* probably null Het
Fancm T A 12: 65,137,758 (GRCm39) N316K probably benign Het
Flnc T C 6: 29,457,214 (GRCm39) V2372A probably damaging Het
Fry A G 5: 150,282,488 (GRCm39) R338G probably damaging Het
Gfra3 T C 18: 34,837,591 (GRCm39) T136A probably benign Het
Golga7b T C 19: 42,255,462 (GRCm39) V113A possibly damaging Het
Gpn3 G T 5: 122,520,306 (GRCm39) V102L Het
Herc2 A G 7: 55,820,338 (GRCm39) N2859S possibly damaging Het
Hpd A T 5: 123,318,948 (GRCm39) probably null Het
Hspg2 C T 4: 137,266,887 (GRCm39) T1964I probably benign Het
Hydin A T 8: 111,220,965 (GRCm39) T1454S probably benign Het
Irgm2 A T 11: 58,110,872 (GRCm39) T188S possibly damaging Het
Jak3 A G 8: 72,131,366 (GRCm39) D77G probably damaging Het
Kcnj4 G T 15: 79,369,220 (GRCm39) F253L possibly damaging Het
Kidins220 T A 12: 25,106,895 (GRCm39) D1358E probably benign Het
Klf1 C A 8: 85,630,061 (GRCm39) C295* probably null Het
Kmt2a C T 9: 44,760,102 (GRCm39) W582* probably null Het
Lrig2 A G 3: 104,371,556 (GRCm39) C716R probably damaging Het
Lrp1b C T 2: 40,765,004 (GRCm39) D2941N Het
Lrpprc A T 17: 85,020,262 (GRCm39) V1141E probably damaging Het
Mrgprx1 C T 7: 47,671,273 (GRCm39) G158D probably benign Het
Muc5b C A 7: 141,409,279 (GRCm39) A1121D unknown Het
Nf1 G T 11: 79,334,733 (GRCm39) V852L probably damaging Het
Notch4 A G 17: 34,784,601 (GRCm39) T101A probably benign Het
Or10a49 T C 7: 108,467,563 (GRCm39) Y266C probably damaging Het
Or2t35 T A 14: 14,407,963 (GRCm38) I245K probably benign Het
Or5b123 G A 19: 13,597,365 (GRCm39) V237I probably benign Het
P2rx2 T C 5: 110,488,172 (GRCm39) T461A probably benign Het
Pank1 G A 19: 34,799,194 (GRCm39) T419I probably damaging Het
Patz1 T C 11: 3,244,562 (GRCm39) V481A unknown Het
Pdlim5 A G 3: 142,018,058 (GRCm39) L179P probably benign Het
Pik3ap1 A T 19: 41,296,967 (GRCm39) V461D probably damaging Het
Polq T C 16: 36,848,176 (GRCm39) V261A probably damaging Het
Ppm1a G A 12: 72,837,451 (GRCm39) V333M possibly damaging Het
R3hcc1l T C 19: 42,552,671 (GRCm39) L556P probably benign Het
Rabggta G A 14: 55,956,375 (GRCm39) Q365* probably null Het
Ranbp9 T C 13: 43,578,519 (GRCm39) T185A probably benign Het
Rd3l T G 12: 111,945,913 (GRCm39) N189H probably damaging Het
Rnf17 A G 14: 56,722,636 (GRCm39) T1066A probably damaging Het
Rnf213 G A 11: 119,332,794 (GRCm39) A2669T Het
Ros1 T A 10: 51,996,931 (GRCm39) H1268L probably benign Het
Rps6ka4 G T 19: 6,809,354 (GRCm39) S433R possibly damaging Het
Ryr1 A G 7: 28,759,092 (GRCm39) L3362P probably damaging Het
Setd1b A T 5: 123,298,046 (GRCm39) T1361S unknown Het
Setd2 T C 9: 110,377,570 (GRCm39) S462P probably damaging Het
Sgsm3 A T 15: 80,890,935 (GRCm39) Q132L probably benign Het
Slx1b C A 7: 126,291,698 (GRCm39) R122L probably damaging Het
Sorbs2 A T 8: 46,276,788 (GRCm39) T1167S probably benign Het
Spdya A C 17: 71,869,513 (GRCm39) T103P probably damaging Het
Stfa2 A G 16: 36,228,638 (GRCm39) S20P probably benign Het
Sulf1 A G 1: 12,891,026 (GRCm39) T400A probably benign Het
Tardbp A T 4: 148,709,751 (GRCm39) D23E probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tgm1 C T 14: 55,948,441 (GRCm39) D237N probably benign Het
Tgs1 T A 4: 3,585,964 (GRCm39) N280K probably benign Het
Tmem198 A T 1: 75,459,272 (GRCm39) I76F possibly damaging Het
Trpv2 A T 11: 62,475,385 (GRCm39) Y266F probably damaging Het
Ttn C T 2: 76,569,845 (GRCm39) G27016E probably damaging Het
Ttn T C 2: 76,781,824 (GRCm39) E1074G unknown Het
Unc5b A T 10: 60,613,322 (GRCm39) W305R probably damaging Het
Usp38 A G 8: 81,741,164 (GRCm39) probably benign Het
Vmn1r79 A G 7: 11,910,582 (GRCm39) T155A probably benign Het
Vwce G A 19: 10,615,481 (GRCm39) V121I probably benign Het
Wdr91 A T 6: 34,865,961 (GRCm39) D530E probably benign Het
Wnt4 A G 4: 137,023,929 (GRCm39) T299A probably benign Het
Yeats2 T A 16: 20,047,491 (GRCm39) Y1284* probably null Het
Zfp113 A T 5: 138,148,888 (GRCm39) Y85* probably null Het
Zfp184 A G 13: 22,144,096 (GRCm39) T601A probably benign Het
Zfp655 A G 5: 145,180,442 (GRCm39) E100G 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
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
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'- TGATAGCTCAGCAGGTCAATGG -3'
(R):5'- GGTACTCTGTTTTAAAAGGGCTTTTCC -3'

Sequencing Primer
(F):5'- AATGGACACCCTGGATGCCTTC -3'
(R):5'- GCTTTTCCTCAAGATAATGGGC -3'
Posted On 2022-11-14