Incidental Mutation 'R9339:Scnn1b'
ID 707377
Institutional Source Beutler Lab
Gene Symbol Scnn1b
Ensembl Gene ENSMUSG00000030873
Gene Name sodium channel, nonvoltage-gated 1 beta
Synonyms ENaC beta
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9339 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 121464261-121517737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121511254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 314 (A314S)
Ref Sequence ENSEMBL: ENSMUSP00000033161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033161] [ENSMUST00000205438] [ENSMUST00000205520] [ENSMUST00000206079]
AlphaFold Q9WU38
Predicted Effect probably damaging
Transcript: ENSMUST00000033161
AA Change: A314S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
AA Change: A314S

DomainStartEndE-ValueType
Pfam:ASC 29 541 2.4e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205438
Predicted Effect possibly damaging
Transcript: ENSMUST00000205520
AA Change: A314S

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000206079
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutation of this gene results in death shortly after birth, decreased serum sodium levels but higher urine sodium levels and increased serum potassium and chloride levels but lower potassium urine levels. Another homozygous mutation exhibits no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,667,521 (GRCm39) E304G unknown Het
4933436I01Rik T A X: 66,964,689 (GRCm39) K57* probably null Het
Aar2 T C 2: 156,392,893 (GRCm39) V94A probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam25 T C 8: 41,206,911 (GRCm39) V59A probably damaging Het
Ampd2 T C 3: 107,987,616 (GRCm39) D103G probably damaging Het
Ankrd12 A G 17: 66,291,408 (GRCm39) S1342P probably benign Het
Atp13a2 A G 4: 140,730,571 (GRCm39) T739A probably benign Het
Catsperg1 T A 7: 28,894,885 (GRCm39) N571Y probably benign Het
Cela3b A G 4: 137,152,355 (GRCm39) I74T probably damaging Het
Cfhr1 A G 1: 139,485,293 (GRCm39) L51P probably benign Het
Cfhr4 T A 1: 139,682,044 (GRCm39) Y184F probably benign Het
Ckap5 T A 2: 91,396,100 (GRCm39) D534E probably benign Het
Cstf3 C T 2: 104,493,778 (GRCm39) P594L probably damaging Het
Ctdp1 A G 18: 80,492,689 (GRCm39) L602P probably damaging Het
Defa24 A G 8: 22,224,559 (GRCm39) T3A probably damaging Het
Dmgdh A G 13: 93,847,941 (GRCm39) H546R probably benign Het
Dscam A G 16: 96,517,263 (GRCm39) V882A possibly damaging Het
Dydc2 A G 14: 40,771,260 (GRCm39) *140Q probably null Het
Ehd4 T C 2: 119,921,708 (GRCm39) D516G possibly damaging Het
En1 T C 1: 120,534,893 (GRCm39) V394A unknown Het
Erich3 T G 3: 154,468,872 (GRCm39) L1108R unknown Het
Erp27 A G 6: 136,896,945 (GRCm39) S86P probably benign Het
Esr1 A C 10: 4,696,798 (GRCm39) S216R probably damaging Het
Fbxo40 A T 16: 36,789,286 (GRCm39) I608N probably damaging Het
Fcna G A 2: 25,517,782 (GRCm39) Q23* probably null Het
Foxn4 C T 5: 114,394,955 (GRCm39) R324Q probably benign Het
Gata6 A G 18: 11,054,520 (GRCm39) T150A probably damaging Het
Gbp2b T A 3: 142,317,178 (GRCm39) H511Q probably benign Het
Gpr171 C A 3: 59,005,362 (GRCm39) V138L probably damaging Het
Grhl2 G A 15: 37,344,904 (GRCm39) V509I probably benign Het
Gzmd G A 14: 56,367,869 (GRCm39) P135S probably damaging Het
Hhatl C A 9: 121,618,862 (GRCm39) C90F probably benign Het
Hspg2 A G 4: 137,278,480 (GRCm39) K3050R probably benign Het
Kcnh3 T C 15: 99,130,786 (GRCm39) Y468H probably damaging Het
Lhfpl6 A G 3: 52,950,891 (GRCm39) H55R probably benign Het
Lpgat1 T C 1: 191,451,488 (GRCm39) V38A probably benign Het
Lrrc49 A G 9: 60,510,031 (GRCm39) I479T probably benign Het
Map1b A T 13: 99,567,570 (GRCm39) I1717N unknown Het
Map3k20 G T 2: 72,272,216 (GRCm39) R781S possibly damaging Het
Mcm3ap A G 10: 76,306,358 (GRCm39) E157G probably benign Het
Mylk2 A G 2: 152,755,370 (GRCm39) E178G probably damaging Het
Naaladl2 A G 3: 24,057,146 (GRCm39) L605P probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nt5el C T 13: 105,246,114 (GRCm39) T225I probably benign Het
Or10h28 T C 17: 33,488,631 (GRCm39) V311A probably benign Het
Or4a76 T C 2: 89,460,555 (GRCm39) E229G probably damaging Het
Padi3 A T 4: 140,522,928 (GRCm39) I348N probably benign Het
Pcdh18 T C 3: 49,709,335 (GRCm39) D660G probably damaging Het
Pdgfra T A 5: 75,355,635 (GRCm39) S1048R probably damaging Het
Pkhd1l1 T C 15: 44,452,949 (GRCm39) V3958A probably damaging Het
Ppargc1b C A 18: 61,456,267 (GRCm39) C80F probably damaging Het
Rbm28 T C 6: 29,128,674 (GRCm39) E590G probably benign Het
Rbm47 T C 5: 66,183,826 (GRCm39) E259G possibly damaging Het
Rint1 A G 5: 23,993,355 (GRCm39) *37W probably null Het
Sacs G A 14: 61,443,309 (GRCm39) R1785Q probably benign Het
Samm50 T C 15: 84,095,276 (GRCm39) C421R probably benign Het
Sf3b3 C A 8: 111,542,854 (GRCm39) V868L probably benign Het
Sirt5 G T 13: 43,530,327 (GRCm39) V136L probably benign Het
Slc1a7 T C 4: 107,850,237 (GRCm39) V116A probably damaging Het
Slc24a4 G A 12: 102,230,638 (GRCm39) V510M probably damaging Het
Slc35f5 T C 1: 125,517,628 (GRCm39) I116T probably benign Het
Spata4 T C 8: 55,053,899 (GRCm39) S22P probably benign Het
Sqstm1 A G 11: 50,091,725 (GRCm39) V324A probably benign Het
Stmnd1 G A 13: 46,453,079 (GRCm39) A252T probably benign Het
Tbl1xr1 C A 3: 22,258,150 (GRCm39) N470K possibly damaging Het
Thap12 T C 7: 98,364,323 (GRCm39) S164P possibly damaging Het
Thsd1 A G 8: 22,733,898 (GRCm39) Y315C probably damaging Het
Tnni2 C A 7: 141,997,672 (GRCm39) D102E probably damaging Het
Trav7n-4 A C 14: 53,328,849 (GRCm39) N16T probably benign Het
Trpm7 T C 2: 126,665,906 (GRCm39) K900R probably benign Het
Tspoap1 T A 11: 87,668,839 (GRCm39) C1371S probably benign Het
Tssk5 A G 15: 76,257,156 (GRCm39) M242T possibly damaging Het
Ubn2 A G 6: 38,460,079 (GRCm39) I607V probably benign Het
Ubr2 A T 17: 47,284,865 (GRCm39) V551E probably benign Het
Vipr2 A G 12: 116,058,344 (GRCm39) N87S probably damaging Het
Vmn2r18 T A 5: 151,485,132 (GRCm39) K787N probably damaging Het
Wwc2 A T 8: 48,353,859 (GRCm39) W92R probably damaging Het
Zfp141 A G 7: 42,125,639 (GRCm39) Y278H probably damaging Het
Zfp827 T C 8: 79,844,887 (GRCm39) S686P probably benign Het
Other mutations in Scnn1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Scnn1b APN 7 121,517,259 (GRCm39) missense probably damaging 1.00
IGL01108:Scnn1b APN 7 121,513,555 (GRCm39) splice site probably null
IGL02191:Scnn1b APN 7 121,516,736 (GRCm39) missense probably damaging 1.00
IGL02197:Scnn1b APN 7 121,502,113 (GRCm39) missense probably null 0.89
IGL02355:Scnn1b APN 7 121,516,770 (GRCm39) missense probably damaging 1.00
IGL02362:Scnn1b APN 7 121,516,770 (GRCm39) missense probably damaging 1.00
IGL02554:Scnn1b APN 7 121,516,746 (GRCm39) missense probably damaging 1.00
IGL02834:Scnn1b APN 7 121,511,285 (GRCm39) missense probably damaging 1.00
R0266:Scnn1b UTSW 7 121,511,698 (GRCm39) missense probably damaging 1.00
R0494:Scnn1b UTSW 7 121,498,681 (GRCm39) missense probably damaging 1.00
R0849:Scnn1b UTSW 7 121,511,698 (GRCm39) missense probably damaging 1.00
R0872:Scnn1b UTSW 7 121,513,553 (GRCm39) critical splice donor site probably null
R0899:Scnn1b UTSW 7 121,516,938 (GRCm39) missense probably damaging 1.00
R1386:Scnn1b UTSW 7 121,501,711 (GRCm39) missense possibly damaging 0.60
R1406:Scnn1b UTSW 7 121,501,767 (GRCm39) critical splice donor site probably null
R1406:Scnn1b UTSW 7 121,501,767 (GRCm39) critical splice donor site probably null
R1662:Scnn1b UTSW 7 121,501,551 (GRCm39) missense probably benign 0.00
R1782:Scnn1b UTSW 7 121,517,184 (GRCm39) missense probably benign
R1829:Scnn1b UTSW 7 121,502,068 (GRCm39) missense probably benign 0.00
R1861:Scnn1b UTSW 7 121,513,484 (GRCm39) missense probably damaging 1.00
R1928:Scnn1b UTSW 7 121,509,670 (GRCm39) missense probably damaging 1.00
R4016:Scnn1b UTSW 7 121,513,555 (GRCm39) splice site probably null
R4192:Scnn1b UTSW 7 121,501,962 (GRCm39) missense possibly damaging 0.63
R4504:Scnn1b UTSW 7 121,511,698 (GRCm39) missense probably damaging 1.00
R4745:Scnn1b UTSW 7 121,501,509 (GRCm39) missense probably benign 0.03
R4888:Scnn1b UTSW 7 121,502,110 (GRCm39) missense probably benign 0.06
R4941:Scnn1b UTSW 7 121,511,231 (GRCm39) missense probably damaging 1.00
R5121:Scnn1b UTSW 7 121,502,110 (GRCm39) missense probably benign 0.06
R6379:Scnn1b UTSW 7 121,514,551 (GRCm39) missense probably benign 0.10
R6516:Scnn1b UTSW 7 121,511,335 (GRCm39) missense probably damaging 1.00
R6650:Scnn1b UTSW 7 121,502,043 (GRCm39) missense probably damaging 0.97
R6730:Scnn1b UTSW 7 121,502,100 (GRCm39) missense probably damaging 1.00
R7151:Scnn1b UTSW 7 121,517,109 (GRCm39) missense probably damaging 1.00
R8670:Scnn1b UTSW 7 121,498,472 (GRCm39) missense probably benign 0.06
R8675:Scnn1b UTSW 7 121,498,474 (GRCm39) missense probably damaging 1.00
R8930:Scnn1b UTSW 7 121,502,067 (GRCm39) missense probably damaging 0.99
R8932:Scnn1b UTSW 7 121,502,067 (GRCm39) missense probably damaging 0.99
R9170:Scnn1b UTSW 7 121,511,326 (GRCm39) missense probably benign 0.32
R9204:Scnn1b UTSW 7 121,498,522 (GRCm39) missense probably benign 0.20
R9466:Scnn1b UTSW 7 121,502,013 (GRCm39) missense probably damaging 1.00
R9696:Scnn1b UTSW 7 121,498,462 (GRCm39) start codon destroyed probably damaging 0.99
R9709:Scnn1b UTSW 7 121,509,693 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTGCAGACGAGGGACTATAC -3'
(R):5'- ATTTTCAGGCATGGGAGGGC -3'

Sequencing Primer
(F):5'- AGGTTATGGGCCCCAGAG -3'
(R):5'- CATGGGAGGGCAGCCTG -3'
Posted On 2022-04-18