Incidental Mutation 'R7042:Nlrp5'
ID 547110
Institutional Source Beutler Lab
Gene Symbol Nlrp5
Ensembl Gene ENSMUSG00000015721
Gene Name NLR family, pyrin domain containing 5
Synonyms Mater, Op1, Nalp5
MMRRC Submission 045141-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7042 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 23085314-23141347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23116905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 210 (I210V)
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: I210V

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: I210V

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: I194V

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: I194V

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: I210V

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: I210V

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: I210V

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: I210V

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: I210V

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: I210V

DomainStartEndE-ValueType
Pfam:NACHT 191 359 1.6e-44 PFAM
Blast:LRR 691 718 8e-9 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,192,098 (GRCm39) S554G possibly damaging Het
Adcy7 G T 8: 89,042,378 (GRCm39) R415L probably damaging Het
Aox1 A T 1: 58,141,759 (GRCm39) I1182F probably damaging Het
Ccdc7b T A 8: 129,811,730 (GRCm39) Y147N probably benign Het
Clcnka A G 4: 141,118,691 (GRCm39) I398T probably damaging Het
Cst8 T A 2: 148,641,796 (GRCm39) probably null Het
Dcxr T C 11: 120,617,841 (GRCm39) D45G possibly damaging Het
Dhx38 A T 8: 110,283,617 (GRCm39) M510K possibly damaging Het
Dync2i1 T C 12: 116,218,061 (GRCm39) I182M probably benign Het
Ebf1 T A 11: 44,882,338 (GRCm39) H431Q probably damaging Het
Eml4 T C 17: 83,768,999 (GRCm39) I681T probably damaging Het
Etf1 T C 18: 35,043,219 (GRCm39) N164S probably benign Het
Fmo2 A G 1: 162,708,226 (GRCm39) V303A probably damaging Het
Foxl2 T A 9: 98,837,715 (GRCm39) M1K probably null Het
Gm3404 A T 5: 146,462,969 (GRCm39) E50D probably benign Het
Gpr61 G A 3: 108,058,647 (GRCm39) P5S possibly damaging Het
Hcrtr1 A G 4: 130,024,653 (GRCm39) probably benign Het
Ier3ip1 T A 18: 77,017,828 (GRCm39) F3I possibly damaging Het
Ifi206 G A 1: 173,308,808 (GRCm39) P396L Het
Ifi209 G A 1: 173,470,236 (GRCm39) V275I probably benign Het
Ighv1-69 T C 12: 115,586,909 (GRCm39) S75G probably benign Het
Kcnj3 A T 2: 55,484,877 (GRCm39) H325L possibly damaging Het
Klrk1 A T 6: 129,593,734 (GRCm39) S50T possibly damaging Het
Mfsd4b4 T A 10: 39,768,514 (GRCm39) Y193F probably damaging Het
Or4p20 T A 2: 88,253,746 (GRCm39) I208F possibly damaging Het
Or5w12 A T 2: 87,501,935 (GRCm39) Y259N possibly damaging Het
Or8b3 G T 9: 38,314,196 (GRCm39) G6C probably damaging Het
Or8d23 A G 9: 38,841,622 (GRCm39) S52G possibly damaging Het
Pax6 A T 2: 105,526,718 (GRCm39) H208L probably benign Het
Pgc C A 17: 48,044,745 (GRCm39) Q331K probably benign Het
Phldb1 A G 9: 44,605,721 (GRCm39) S370P probably damaging Het
Pi4k2a T C 19: 42,093,337 (GRCm39) I226T probably benign Het
Pick1 T C 15: 79,132,965 (GRCm39) S342P probably damaging Het
Plscr1 A G 9: 92,153,588 (GRCm39) M312V probably damaging Het
Ppp3cc T G 14: 70,462,468 (GRCm39) K399Q probably benign Het
Qpctl T C 7: 18,880,943 (GRCm39) H163R probably benign Het
Rab11fip5 A G 6: 85,351,110 (GRCm39) V134A possibly damaging Het
Rasal1 T A 5: 120,802,025 (GRCm39) probably null Het
Rem2 T A 14: 54,715,548 (GRCm39) I171N probably damaging Het
Sec22a T A 16: 35,149,885 (GRCm39) I214L probably benign Het
Setbp1 T C 18: 79,130,070 (GRCm39) D54G probably damaging Het
Slc27a2 C T 2: 126,409,700 (GRCm39) A294V probably damaging Het
Slfn14 T A 11: 83,167,430 (GRCm39) D695V probably damaging Het
Smc6 T A 12: 11,359,301 (GRCm39) I975K probably damaging Het
Spice1 T C 16: 44,206,043 (GRCm39) F835L probably benign Het
Tars2 A T 3: 95,658,057 (GRCm39) H222Q probably benign Het
Tmtc2 A T 10: 105,206,477 (GRCm39) F273I probably damaging Het
Ttc39d C A 17: 80,523,891 (GRCm39) D183E probably benign Het
Vasp A G 7: 18,995,946 (GRCm39) S128P probably benign Het
Vcpip1 A G 1: 9,818,378 (GRCm39) S2P unknown Het
Vmn2r98 T C 17: 19,301,184 (GRCm39) Y729H probably benign Het
Wdr18 A T 10: 79,801,944 (GRCm39) D243V probably benign Het
Xirp2 T C 2: 67,343,633 (GRCm39) V1958A probably benign Het
Zfp451 A T 1: 33,816,474 (GRCm39) M492K probably damaging Het
Zfp804b A G 5: 6,820,042 (GRCm39) I1007T 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
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
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'- AAGGCCCATGTGATTGCTAAG -3'
(R):5'- TCATATCATCATGTTGGAGGACAG -3'

Sequencing Primer
(F):5'- CCATGTGATTGCTAAGTTCGACAC -3'
(R):5'- GTCCATATCATCCAAGCCATCTATG -3'
Posted On 2019-05-13