Incidental Mutation 'R7795:Nlrp5'
ID 600173
Institutional Source Beutler Lab
Gene Symbol Nlrp5
Ensembl Gene ENSMUSG00000015721
Gene Name NLR family, pyrin domain containing 5
Synonyms Mater, Op1, Nalp5
MMRRC Submission 045851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7795 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 23085314-23141347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23118219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 648 (V648M)
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: V648M

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000015866
Gene: ENSMUSG00000015721
AA Change: V648M

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 possibly damaging
Transcript: ENSMUST00000086341
AA Change: V632M

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083524
Gene: ENSMUSG00000015721
AA Change: V632M

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: V648M

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104080
Gene: ENSMUSG00000015721
AA Change: V648M

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: V648M

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122007
Gene: ENSMUSG00000015721
AA Change: V648M

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: V648M

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118638
Gene: ENSMUSG00000015721
AA Change: V648M

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: 99.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankle1 T C 8: 71,861,337 (GRCm39) S391P probably damaging Het
Ankmy1 T C 1: 92,811,570 (GRCm39) Q606R probably benign Het
Bmf A G 2: 118,377,358 (GRCm39) L130P probably damaging Het
Ccdc88c G A 12: 100,889,570 (GRCm39) T1491I probably benign Het
Cyp2c69 G A 19: 39,864,663 (GRCm39) R272C probably benign Het
Defa27 A G 8: 21,806,354 (GRCm39) N78S probably benign Het
Depdc5 T A 5: 33,101,447 (GRCm39) D912E probably damaging Het
Dsc3 C T 18: 20,099,288 (GRCm39) D743N probably damaging Het
Epcam T C 17: 87,950,983 (GRCm39) V190A probably benign Het
Exoc2 G A 13: 31,060,756 (GRCm39) R583* probably null Het
Extl1 T A 4: 134,091,990 (GRCm39) I288F probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcer2a T A 8: 3,732,910 (GRCm39) Y299F probably benign Het
Frmd4a G A 2: 4,595,506 (GRCm39) G439R probably damaging Het
Gal3st4 T C 5: 138,269,100 (GRCm39) H120R probably benign Het
Grid1 C A 14: 35,043,642 (GRCm39) N332K probably damaging Het
Igkv4-68 A G 6: 69,281,896 (GRCm39) Y92H probably damaging Het
Itga1 T C 13: 115,148,772 (GRCm39) E283G probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lrrc24 A G 15: 76,602,248 (GRCm39) L169P probably benign Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mettl8 T C 2: 70,812,243 (GRCm39) T131A probably benign Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Nbr1 T A 11: 101,460,154 (GRCm39) D383E probably damaging Het
Neto1 A T 18: 86,479,198 (GRCm39) K167N probably benign Het
Nkx6-1 A T 5: 101,811,628 (GRCm39) L158Q unknown Het
Nvl G T 1: 180,924,722 (GRCm39) Q811K probably benign Het
Or13a21 A G 7: 139,999,027 (GRCm39) F220L possibly damaging Het
Or13p3 C A 4: 118,566,855 (GRCm39) H84N possibly damaging Het
Or1j10 A G 2: 36,267,453 (GRCm39) T222A probably benign Het
Or3a1c T A 11: 74,046,844 (GRCm39) L288Q probably damaging Het
Pccb T C 9: 100,881,316 (GRCm39) Y224C probably damaging Het
Pcdh10 T C 3: 45,334,657 (GRCm39) Y324H probably benign Het
Pecam1 C A 11: 106,586,658 (GRCm39) E286* probably null Het
Prl7d1 A T 13: 27,893,263 (GRCm39) L215Q probably damaging Het
Ranbp2 T A 10: 58,319,729 (GRCm39) Y2514* probably null Het
Rgs11 A G 17: 26,426,552 (GRCm39) H261R possibly damaging Het
Samd15 A G 12: 87,247,506 (GRCm39) T64A probably benign Het
Shc4 T A 2: 125,565,285 (GRCm39) S5C probably damaging Het
Shroom3 G A 5: 93,067,508 (GRCm39) V109M probably damaging Het
Spata13 T C 14: 60,929,291 (GRCm39) I283T possibly damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Synj2bp G A 12: 81,548,922 (GRCm39) P106S probably benign Het
Tasor T C 14: 27,203,340 (GRCm39) S289P Het
Thoc1 T C 18: 9,986,300 (GRCm39) V344A probably damaging Het
Vmn1r71 A G 7: 10,482,136 (GRCm39) L184S probably damaging Het
Vps45 A G 3: 95,926,936 (GRCm39) I537T 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
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
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'- ACTGGGTCTCTCTGATAGCTC -3'
(R):5'- TCAAGTCCCATTAGTAAGCGAG -3'

Sequencing Primer
(F):5'- CTGATAGCTCAGCAGGTCAATG -3'
(R):5'- GTCCCATTAGTAAGCGAGTCATC -3'
Posted On 2019-11-26