Incidental Mutation 'R4941:Scnn1b'
ID 383095
Institutional Source Beutler Lab
Gene Symbol Scnn1b
Ensembl Gene ENSMUSG00000030873
Gene Name sodium channel, nonvoltage-gated 1 beta
Synonyms ENaC beta
MMRRC Submission 042539-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4941 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 121464261-121517737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121511231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 306 (P306L)
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: P306L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
AA Change: P306L

DomainStartEndE-ValueType
Pfam:ASC 29 541 2.4e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205438
Predicted Effect probably damaging
Transcript: ENSMUST00000205520
AA Change: P306L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000206079
Meta Mutation Damage Score 0.9458 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.0%
Validation Efficiency 97% (112/116)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T A 15: 83,112,529 (GRCm39) I85F probably damaging Het
Abcc6 T A 7: 45,661,947 (GRCm39) I435F probably benign Het
Adam3 T C 8: 25,167,332 (GRCm39) probably benign Het
Adrb3 T C 8: 27,717,450 (GRCm39) Y333C probably damaging Het
Ago4 A T 4: 126,419,847 (GRCm39) D43E probably benign Het
Agt T A 8: 125,283,727 (GRCm39) Q464L probably benign Het
Amdhd1 A T 10: 93,367,463 (GRCm39) D230E probably damaging Het
Aplf A G 6: 87,645,405 (GRCm39) I33T probably damaging Het
Aplf A T 6: 87,623,331 (GRCm39) N249K probably benign Het
Arap2 A G 5: 62,906,821 (GRCm39) M66T probably benign Het
Atf4 T C 15: 80,140,434 (GRCm39) probably benign Het
Bahcc1 A C 11: 120,177,491 (GRCm39) H2068P probably benign Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Bltp1 A C 3: 36,971,851 (GRCm39) H528P probably damaging Het
Bltp1 G A 3: 36,974,050 (GRCm39) S600N probably benign Het
Catsper1 C A 19: 5,391,466 (GRCm39) A616D possibly damaging Het
Cdkn3 A G 14: 47,007,320 (GRCm39) D159G possibly damaging Het
Cep162 T C 9: 87,108,022 (GRCm39) probably benign Het
Clca3a1 T A 3: 144,721,414 (GRCm39) I386L probably damaging Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Cmtm3 T C 8: 105,070,460 (GRCm39) L73P probably damaging Het
Cnksr3 A C 10: 7,102,925 (GRCm39) L149R probably benign Het
Cope T C 8: 70,755,584 (GRCm39) probably null Het
Cpa6 T A 1: 10,479,562 (GRCm39) M224L probably benign Het
Cyp2d41-ps T C 15: 82,666,154 (GRCm39) noncoding transcript Het
Ddx55 T A 5: 124,706,779 (GRCm39) L592* probably null Het
Deup1 T C 9: 15,499,323 (GRCm39) M333V probably benign Het
Eif4a1 T C 11: 69,558,640 (GRCm39) probably benign Het
Eif4g3 A C 4: 137,897,876 (GRCm39) D1026A probably damaging Het
Eif5b T C 1: 38,090,280 (GRCm39) V1153A probably damaging Het
Ercc8 G T 13: 108,297,301 (GRCm39) probably benign Het
Fam227a C A 15: 79,524,204 (GRCm39) probably null Het
Fat1 A G 8: 45,489,312 (GRCm39) I3505V probably benign Het
Fat3 T G 9: 16,286,448 (GRCm39) E1025A probably damaging Het
Fat4 C T 3: 39,011,601 (GRCm39) R2234W probably damaging Het
Fer1l4 G T 2: 155,887,009 (GRCm39) F634L probably damaging Het
Fetub G A 16: 22,756,624 (GRCm39) V162I probably benign Het
Fgd4 T C 16: 16,302,402 (GRCm39) Q51R probably benign Het
Fgfr2 T C 7: 129,800,175 (GRCm39) H140R probably benign Het
Flt3 T A 5: 147,293,185 (GRCm39) probably null Het
Gabrb1 A G 5: 72,294,121 (GRCm39) N465S probably damaging Het
Gapdhs T C 7: 30,432,691 (GRCm39) I206V probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Glp2r T C 11: 67,637,529 (GRCm39) probably null Het
Gm4956 T A 1: 21,368,306 (GRCm39) noncoding transcript Het
Gtf2a1l A T 17: 89,022,350 (GRCm39) D447V probably damaging Het
Hsd3b5 A G 3: 98,526,379 (GRCm39) W356R probably damaging Het
Idh2 A T 7: 79,745,847 (GRCm39) V335D probably damaging Het
Isyna1 T C 8: 71,048,146 (GRCm39) I184T probably damaging Het
Kcnh2 A G 5: 24,536,085 (GRCm39) S320P probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kpna6 A G 4: 129,541,825 (GRCm39) F524S probably damaging Het
Lap3 A T 5: 45,663,539 (GRCm39) M338L probably benign Het
Lins1 T C 7: 66,359,198 (GRCm39) probably benign Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lrrc43 A G 5: 123,639,126 (GRCm39) D385G probably benign Het
Maf T C 8: 116,433,532 (GRCm39) D24G unknown Het
Nell1 T C 7: 49,712,386 (GRCm39) S69P probably benign Het
Nkapd1 G T 9: 50,518,809 (GRCm39) Q268K probably benign Het
Or13p4 C T 4: 118,547,089 (GRCm39) V187I possibly damaging Het
Or2h1 C T 17: 37,404,484 (GRCm39) G94E probably damaging Het
Or2j6 T A 7: 139,980,792 (GRCm39) M56L probably benign Het
Or51af1 T C 7: 103,141,458 (GRCm39) D209G probably damaging Het
Or5an10 A G 19: 12,276,260 (GRCm39) S79P possibly damaging Het
Or8g54 T C 9: 39,707,160 (GRCm39) M163T possibly damaging Het
Oxld1 T C 11: 120,347,862 (GRCm39) T112A probably benign Het
Parp14 T C 16: 35,666,403 (GRCm39) N1210S probably benign Het
Pcdhb10 C A 18: 37,545,887 (GRCm39) T321K probably benign Het
Pcdhb8 C T 18: 37,489,059 (GRCm39) L246F probably benign Het
Pcdhga1 T A 18: 37,795,659 (GRCm39) I221K probably benign Het
Pcdhga9 T A 18: 37,871,185 (GRCm39) V338E probably damaging Het
Pdcd11 T C 19: 47,108,325 (GRCm39) S1231P probably damaging Het
Pde6c A T 19: 38,140,013 (GRCm39) L325F probably damaging Het
Pnpla7 T A 2: 24,887,276 (GRCm39) probably null Het
Pparg T A 6: 115,467,071 (GRCm39) V478E probably damaging Het
Ppib T C 9: 65,967,672 (GRCm39) V42A probably benign Het
Ppox T C 1: 171,105,166 (GRCm39) M341V probably damaging Het
Proc T C 18: 32,258,166 (GRCm39) K260E possibly damaging Het
Ptpro C T 6: 137,369,763 (GRCm39) P525L probably damaging Het
Rnf14 C A 18: 38,441,435 (GRCm39) A275E probably damaging Het
Sec14l5 A G 16: 4,994,364 (GRCm39) E386G probably damaging Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc26a5 A G 5: 22,025,384 (GRCm39) I408T probably damaging Het
Slc7a13 A G 4: 19,841,467 (GRCm39) Y438C probably damaging Het
Spire1 T C 18: 67,652,384 (GRCm39) E231G possibly damaging Het
Stab1 T A 14: 30,873,528 (GRCm39) I1014F probably benign Het
Steap2 T C 5: 5,727,651 (GRCm39) Y228C probably damaging Het
Tmem131l T C 3: 83,806,546 (GRCm39) T1487A probably benign Het
Tmem171 A G 13: 98,828,803 (GRCm39) F116L possibly damaging Het
Tmem215 T C 4: 40,474,520 (GRCm39) V199A probably damaging Het
Tmem45a T C 16: 56,642,652 (GRCm39) N173S possibly damaging Het
Uqcrc2 C T 7: 120,242,301 (GRCm39) R148C probably benign Het
Vmn2r116 A G 17: 23,620,116 (GRCm39) K617E probably damaging Het
Xrcc6 T C 15: 81,924,013 (GRCm39) L229P probably damaging Het
Yju2 A G 17: 56,271,149 (GRCm39) D97G possibly damaging Het
Zfp184 A G 13: 22,133,891 (GRCm39) D46G probably damaging Het
Zfp790 T A 7: 29,528,916 (GRCm39) C534S possibly damaging Het
Zfp990 A T 4: 145,263,407 (GRCm39) N135I probably damaging 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
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
R9339:Scnn1b UTSW 7 121,511,254 (GRCm39) missense probably damaging 0.98
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'- AGGATATTTTCAGGCATGGGAG -3'

Sequencing Primer
(F):5'- CTATACAGGTAAGGCACAGGAGC -3'
(R):5'- TGGACAGGGGAGCTTCTC -3'
Posted On 2016-04-27