Incidental Mutation 'R0675:Nlrp5'
ID 61606
Institutional Source Beutler Lab
Gene Symbol Nlrp5
Ensembl Gene ENSMUSG00000015721
Gene Name NLR family, pyrin domain containing 5
Synonyms Mater, Op1, Nalp5
MMRRC Submission 038860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0675 (G1)
Quality Score 114
Status Validated
Chromosome 7
Chromosomal Location 23085314-23141347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 23116842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 189 (Q189K)
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 benign
Transcript: ENSMUST00000015866
AA Change: Q189K

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: Q189K

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: Q173K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: Q173K

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: Q189K

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: Q189K

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 possibly damaging
Transcript: ENSMUST00000133237
AA Change: Q189K

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: Q189K

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: Q189K

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: Q189K

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (88/91)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,024,124 (GRCm39) probably benign Het
Aire T C 10: 77,870,327 (GRCm39) probably benign Het
Akap12 T C 10: 4,303,315 (GRCm39) S42P probably benign Het
Amigo1 T C 3: 108,098,985 (GRCm39) probably benign Het
Angptl3 A G 4: 98,921,499 (GRCm39) T206A probably benign Het
Ank1 T A 8: 23,600,400 (GRCm39) probably benign Het
Ano5 A T 7: 51,224,558 (GRCm39) T472S probably damaging Het
Arid3c T C 4: 41,725,958 (GRCm39) D215G probably damaging Het
Cd200 T C 16: 45,217,473 (GRCm39) I73V probably benign Het
Cd47 T C 16: 49,727,162 (GRCm39) I318T possibly damaging Het
Cep290 A G 10: 100,404,675 (GRCm39) probably null Het
Cep350 A G 1: 155,835,499 (GRCm39) S66P possibly damaging Het
Cfap46 C T 7: 139,255,950 (GRCm39) C300Y probably damaging Het
Chd1 T A 17: 15,978,523 (GRCm39) probably benign Het
Chd5 C A 4: 152,470,407 (GRCm39) T1913K probably benign Het
Cimip3 T C 17: 47,724,701 (GRCm39) E140G probably benign Het
Clec4b1 A G 6: 123,048,405 (GRCm39) Y180C probably damaging Het
Cntnap5c A T 17: 58,341,990 (GRCm39) D227V probably damaging Het
Col19a1 C G 1: 24,614,536 (GRCm39) probably benign Het
Csmd1 A T 8: 16,208,145 (GRCm39) M1270K probably benign Het
Cyp2c66 T A 19: 39,175,060 (GRCm39) F487I possibly damaging Het
Dpp8 T C 9: 64,973,784 (GRCm39) probably benign Het
Duoxa1 A T 2: 122,136,861 (GRCm39) probably benign Het
Edil3 A G 13: 89,325,399 (GRCm39) K263E probably damaging Het
Fat2 A G 11: 55,200,035 (GRCm39) L1013P probably damaging Het
Fras1 T C 5: 96,815,246 (GRCm39) probably benign Het
Gab1 A G 8: 81,496,297 (GRCm39) S668P probably damaging Het
Galnt14 T C 17: 73,852,030 (GRCm39) T130A probably damaging Het
Gm10192 G A 4: 97,071,109 (GRCm39) H99Y unknown Het
Gm5592 A G 7: 40,938,811 (GRCm39) T698A possibly damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gsdma3 A G 11: 98,522,017 (GRCm39) K149R probably benign Het
Igkv4-71 A G 6: 69,220,411 (GRCm39) S29P probably damaging Het
Igsf10 C T 3: 59,236,015 (GRCm39) V1389I probably benign Het
Ik T C 18: 36,880,386 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,962 (GRCm39) P1203S probably damaging Het
Iqsec2 G A X: 150,987,120 (GRCm39) E398K possibly damaging Het
Jmjd6 A G 11: 116,731,353 (GRCm39) V232A probably damaging Het
Klhdc9 G A 1: 171,187,895 (GRCm39) T112M possibly damaging Het
Marcks A G 10: 37,017,181 (GRCm39) probably benign Het
Mctp2 T A 7: 71,732,918 (GRCm39) T829S probably damaging Het
Mroh2a C A 1: 88,156,102 (GRCm39) A78E probably damaging Het
Mroh2a G A 1: 88,178,064 (GRCm39) D1053N probably damaging Het
Mtmr14 A T 6: 113,247,608 (GRCm39) H518L probably damaging Het
Myo5c T C 9: 75,185,571 (GRCm39) M978T probably benign Het
Nlrc3 T C 16: 3,766,775 (GRCm39) I1015V probably benign Het
Or1e26 A C 11: 73,480,078 (GRCm39) L162R probably damaging Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or51f1d A G 7: 102,700,909 (GRCm39) I135V probably benign Het
Or8k35 T C 2: 86,424,423 (GRCm39) I250V probably benign Het
Otof T A 5: 30,539,705 (GRCm39) Y1051F probably benign Het
Pcdhb14 C A 18: 37,581,392 (GRCm39) T166K possibly damaging Het
Pla2g4e A G 2: 120,030,679 (GRCm39) probably benign Het
Polr3gl T C 3: 96,489,471 (GRCm39) E20G probably damaging Het
Psmd1 A G 1: 86,009,761 (GRCm39) D295G probably benign Het
Ptpn21 C A 12: 98,654,475 (GRCm39) A831S probably benign Het
Pwwp3a T A 10: 80,065,914 (GRCm39) V56E probably damaging Het
Rd3l T C 12: 111,946,596 (GRCm39) D60G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,332,660 (GRCm39) D2624G probably benign Het
Sec31a T C 5: 100,541,066 (GRCm39) D347G probably damaging Het
Sema4g G A 19: 44,986,026 (GRCm39) R289H probably damaging Het
Sema5b C T 16: 35,480,703 (GRCm39) T761I probably benign Het
Septin1 A T 7: 126,816,171 (GRCm39) F86L probably damaging Het
Shank3 T C 15: 89,415,591 (GRCm39) V627A possibly damaging Het
Slc25a46 C A 18: 31,742,641 (GRCm39) G75V probably benign Het
Slc45a2 T A 15: 11,025,864 (GRCm39) Y405N probably damaging Het
Spidr T C 16: 15,855,498 (GRCm39) E339G probably damaging Het
Sptbn1 A T 11: 30,067,903 (GRCm39) H1770Q probably damaging Het
Srgap1 T C 10: 121,628,140 (GRCm39) Y944C probably damaging Het
Supt20 C T 3: 54,614,390 (GRCm39) T169I probably damaging Het
Tie1 G A 4: 118,336,966 (GRCm39) Q587* probably null Het
Tmem214 A G 5: 31,029,169 (GRCm39) T203A possibly damaging Het
Tmprss15 C A 16: 78,782,838 (GRCm39) S742I probably damaging Het
Wdr87-ps T C 7: 29,231,942 (GRCm39) noncoding transcript Het
Zfhx2 A G 14: 55,300,620 (GRCm39) V2377A probably damaging Het
Zfp763 G A 17: 33,238,774 (GRCm39) H124Y possibly damaging Het
Zfp846 T C 9: 20,504,853 (GRCm39) S238P 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
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
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
Predicted Primers PCR Primer
(F):5'- GAAAATGTGGCTCAGAAGAAGCTAGACT -3'
(R):5'- GCTGTGCCAAACTGCTCTTCTCT -3'

Sequencing Primer
(F):5'- ttaatcaccttaaacttccaccatc -3'
(R):5'- AAACTGCTCTTCTCTGTCCAC -3'
Posted On 2013-07-30