Incidental Mutation 'R5924:Nlrp6'
ID 461727
Institutional Source Beutler Lab
Gene Symbol Nlrp6
Ensembl Gene ENSMUSG00000038745
Gene Name NLR family, pyrin domain containing 6
Synonyms Nalp6
MMRRC Submission 044119-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5924 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140500815-140509105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140503403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 473 (V473A)
Ref Sequence ENSEMBL: ENSMUSP00000139357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106045] [ENSMUST00000183845] [ENSMUST00000184560]
AlphaFold Q91WS2
Predicted Effect possibly damaging
Transcript: ENSMUST00000106045
AA Change: V473A

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: V473A

DomainStartEndE-ValueType
PYRIN 15 96 5.44e-27 SMART
low complexity region 158 169 N/A INTRINSIC
Pfam:NACHT 194 363 8.6e-44 PFAM
coiled coil region 590 617 N/A INTRINSIC
low complexity region 675 697 N/A INTRINSIC
internal_repeat_1 715 763 9.43e-6 PROSPERO
internal_repeat_1 828 876 9.43e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183761
Predicted Effect probably damaging
Transcript: ENSMUST00000183845
AA Change: V473A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: V473A

DomainStartEndE-ValueType
PYRIN 15 96 5.44e-27 SMART
low complexity region 158 169 N/A INTRINSIC
Pfam:NACHT 194 363 5.5e-43 PFAM
coiled coil region 590 617 N/A INTRINSIC
low complexity region 680 694 N/A INTRINSIC
internal_repeat_1 702 750 1.26e-5 PROSPERO
internal_repeat_1 815 863 1.26e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000184560
AA Change: V503A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: V503A

DomainStartEndE-ValueType
PYRIN 45 126 5.44e-27 SMART
low complexity region 188 199 N/A INTRINSIC
Pfam:NACHT 224 393 8.2e-43 PFAM
coiled coil region 620 647 N/A INTRINSIC
low complexity region 710 724 N/A INTRINSIC
internal_repeat_1 732 780 1.55e-5 PROSPERO
internal_repeat_1 845 893 1.55e-5 PROSPERO
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. [provided by RefSeq, Feb 2013]
PHENOTYPE: Nullizygous mutations lead to altered colonic microbiota, increased susceptibility to induced colitis and/or inflammation-associated colon tumorigenesis. Homozygotes for a null allele show lower blood pressure and sex-specific changes in urine concentrating ability, cognition, and anxiety behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T C 18: 10,706,085 (GRCm39) Y76C probably damaging Het
Agbl1 C T 7: 76,058,982 (GRCm39) T204I probably benign Het
Apc2 A T 10: 80,147,984 (GRCm39) I984F probably damaging Het
Art3 A T 5: 92,560,091 (GRCm39) probably benign Het
B4galnt4 A G 7: 140,650,742 (GRCm39) M839V probably damaging Het
Bnip2 A G 9: 69,904,444 (GRCm39) D67G probably benign Het
Cdhr2 A C 13: 54,874,496 (GRCm39) D856A probably benign Het
Cep78 A T 19: 15,938,430 (GRCm39) L506Q probably damaging Het
Col6a1 A G 10: 76,554,205 (GRCm39) probably null Het
Cyp3a44 A T 5: 145,731,137 (GRCm39) F221Y possibly damaging Het
Dcakd C A 11: 102,890,646 (GRCm39) R47L probably benign Het
Ddr2 A G 1: 169,822,197 (GRCm39) V417A probably benign Het
Dnah5 A T 15: 28,307,473 (GRCm39) T1734S probably benign Het
Eefsec A T 6: 88,332,529 (GRCm39) M227K probably damaging Het
Eif4g3 T G 4: 137,929,237 (GRCm39) N1628K probably damaging Het
Epha5 A T 5: 84,381,533 (GRCm39) Y439* probably null Het
Esrp1 G T 4: 11,361,174 (GRCm39) T324K probably damaging Het
Flnb T A 14: 7,890,765 (GRCm38) M549K probably benign Het
Fndc1 T A 17: 7,992,442 (GRCm39) Q418L unknown Het
Ggnbp2 A G 11: 84,749,363 (GRCm39) S144P possibly damaging Het
Gk5 T C 9: 96,032,563 (GRCm39) probably null Het
Gpr137 A G 19: 6,916,729 (GRCm39) L228P probably damaging Het
Gpt2 C A 8: 86,219,633 (GRCm39) S26R probably damaging Het
Hras C T 7: 140,772,374 (GRCm39) E91K possibly damaging Het
Ighv1-36 G A 12: 114,843,777 (GRCm39) P28S possibly damaging Het
Kalrn G A 16: 34,064,203 (GRCm39) T807M probably damaging Het
Lifr A G 15: 7,202,453 (GRCm39) T365A probably benign Het
Lpin1 A T 12: 16,594,658 (GRCm39) S795T possibly damaging Het
Magi2 A C 5: 20,816,067 (GRCm39) M1128L probably benign Het
Magi3 A T 3: 103,961,854 (GRCm39) probably null Het
Mier1 T A 4: 103,016,899 (GRCm39) L380* probably null Het
Mtmr14 A G 6: 113,230,750 (GRCm39) Y118C probably damaging Het
Myof A T 19: 37,971,421 (GRCm39) M277K probably damaging Het
Nsfl1c T A 2: 151,347,320 (GRCm39) N164K probably benign Het
Olfm3 A T 3: 114,916,187 (GRCm39) Q353L probably benign Het
Opn5 A T 17: 42,922,199 (GRCm39) M1K probably null Het
Or2y3 A G 17: 38,393,254 (GRCm39) V205A probably benign Het
Or4k15 A G 14: 50,364,139 (GRCm39) Y35C probably damaging Het
Or5d41 T C 2: 88,054,891 (GRCm39) I162V probably benign Het
Pax8 A G 2: 24,311,634 (GRCm39) S434P probably damaging Het
Pigo G A 4: 43,023,389 (GRCm39) Q256* probably null Het
Pik3ap1 A C 19: 41,284,895 (GRCm39) F597V probably damaging Het
Pkd2 A G 5: 104,646,424 (GRCm39) K744E probably damaging Het
Prom1 T C 5: 44,162,305 (GRCm39) T729A probably benign Het
Rasal1 T C 5: 120,813,582 (GRCm39) L652P probably damaging Het
Sebox T C 11: 78,395,017 (GRCm39) probably null Het
Setd2 A T 9: 110,403,112 (GRCm39) I1918F probably benign Het
Slc24a2 A T 4: 86,929,825 (GRCm39) probably null Het
Slc28a1 G T 7: 80,765,360 (GRCm39) G25V probably benign Het
Slc51a A G 16: 32,295,990 (GRCm39) F259L possibly damaging Het
Slco2a1 T A 9: 102,923,898 (GRCm39) C37* probably null Het
Speer4f2 A G 5: 17,581,622 (GRCm39) D188G probably damaging Het
Stim2 A G 5: 54,259,985 (GRCm39) K156E probably benign Het
Strn4 T C 7: 16,572,246 (GRCm39) I653T probably damaging Het
Tacr3 G T 3: 134,638,060 (GRCm39) D406Y possibly damaging Het
Utp20 G A 10: 88,651,784 (GRCm39) R400C probably benign Het
V1rd19 C T 7: 23,703,374 (GRCm39) S280L probably benign Het
Vmn2r4 C T 3: 64,296,685 (GRCm39) C700Y probably damaging Het
Zup1 A T 10: 33,803,543 (GRCm39) C514S probably damaging Het
Other mutations in Nlrp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Nlrp6 APN 7 140,503,037 (GRCm39) missense probably damaging 1.00
IGL01066:Nlrp6 APN 7 140,501,709 (GRCm39) missense possibly damaging 0.88
IGL01966:Nlrp6 APN 7 140,505,103 (GRCm39) missense probably damaging 1.00
IGL02625:Nlrp6 APN 7 140,503,413 (GRCm39) missense probably benign 0.00
IGL02792:Nlrp6 APN 7 140,502,348 (GRCm39) missense probably damaging 0.97
IGL02813:Nlrp6 APN 7 140,503,333 (GRCm39) missense possibly damaging 0.86
IGL03140:Nlrp6 APN 7 140,507,400 (GRCm39) missense probably benign 0.01
R0608:Nlrp6 UTSW 7 140,503,399 (GRCm39) nonsense probably null
R1404:Nlrp6 UTSW 7 140,504,026 (GRCm39) small deletion probably benign
R1404:Nlrp6 UTSW 7 140,504,026 (GRCm39) small deletion probably benign
R1472:Nlrp6 UTSW 7 140,503,408 (GRCm39) missense probably damaging 1.00
R1587:Nlrp6 UTSW 7 140,502,959 (GRCm39) missense probably damaging 1.00
R1843:Nlrp6 UTSW 7 140,503,006 (GRCm39) missense probably damaging 1.00
R1959:Nlrp6 UTSW 7 140,504,026 (GRCm39) small deletion probably benign
R2097:Nlrp6 UTSW 7 140,503,117 (GRCm39) missense probably damaging 1.00
R2118:Nlrp6 UTSW 7 140,506,357 (GRCm39) missense probably benign 0.11
R2119:Nlrp6 UTSW 7 140,506,357 (GRCm39) missense probably benign 0.11
R2120:Nlrp6 UTSW 7 140,506,357 (GRCm39) missense probably benign 0.11
R2121:Nlrp6 UTSW 7 140,506,357 (GRCm39) missense probably benign 0.11
R2290:Nlrp6 UTSW 7 140,502,076 (GRCm39) missense probably damaging 1.00
R3546:Nlrp6 UTSW 7 140,506,682 (GRCm39) missense probably benign 0.00
R3547:Nlrp6 UTSW 7 140,506,682 (GRCm39) missense probably benign 0.00
R3970:Nlrp6 UTSW 7 140,501,568 (GRCm39) missense probably damaging 1.00
R4483:Nlrp6 UTSW 7 140,501,694 (GRCm39) missense probably damaging 1.00
R4484:Nlrp6 UTSW 7 140,501,694 (GRCm39) missense probably damaging 1.00
R4869:Nlrp6 UTSW 7 140,504,006 (GRCm39) missense probably damaging 1.00
R4962:Nlrp6 UTSW 7 140,503,497 (GRCm39) missense probably damaging 0.99
R5436:Nlrp6 UTSW 7 140,502,630 (GRCm39) nonsense probably null
R5442:Nlrp6 UTSW 7 140,502,103 (GRCm39) missense probably benign 0.01
R5936:Nlrp6 UTSW 7 140,502,725 (GRCm39) nonsense probably null
R6124:Nlrp6 UTSW 7 140,503,160 (GRCm39) missense probably damaging 1.00
R6455:Nlrp6 UTSW 7 140,507,422 (GRCm39) missense possibly damaging 0.65
R6480:Nlrp6 UTSW 7 140,507,356 (GRCm39) missense possibly damaging 0.93
R6873:Nlrp6 UTSW 7 140,503,433 (GRCm39) missense probably benign 0.01
R7061:Nlrp6 UTSW 7 140,502,780 (GRCm39) missense probably benign 0.36
R7350:Nlrp6 UTSW 7 140,501,191 (GRCm39) start gained probably benign
R7532:Nlrp6 UTSW 7 140,505,097 (GRCm39) missense probably benign 0.00
R7752:Nlrp6 UTSW 7 140,507,353 (GRCm39) missense possibly damaging 0.92
R7901:Nlrp6 UTSW 7 140,507,353 (GRCm39) missense possibly damaging 0.92
R8098:Nlrp6 UTSW 7 140,503,168 (GRCm39) missense probably damaging 1.00
R8381:Nlrp6 UTSW 7 140,503,754 (GRCm39) missense possibly damaging 0.47
R8513:Nlrp6 UTSW 7 140,502,743 (GRCm39) missense possibly damaging 0.83
R9114:Nlrp6 UTSW 7 140,506,332 (GRCm39) missense probably damaging 1.00
V7732:Nlrp6 UTSW 7 140,506,561 (GRCm39) splice site probably benign
Z1176:Nlrp6 UTSW 7 140,502,634 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCAAGACCACTACTTCTGTG -3'
(R):5'- GGTGGTCAGTGCAAGATGAC -3'

Sequencing Primer
(F):5'- AAGACCACTACTTCTGTGTACCTG -3'
(R):5'- GTGCAAGATGACCACGTAGCTC -3'
Posted On 2017-02-28