Mutagenetix > Incidental Mutation

Incidental Mutation 'R1662:Scnn1b'

186846

Institutional Source

Beutler Lab

Gene Symbol

Scnn1b

Ensembl Gene

ENSMUSG00000030873

Gene Name

sodium channel, nonvoltage-gated 1 beta

Synonyms

ENaC beta

MMRRC Submission

039698-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121464261-121517737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121501551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 122 (V122A)

Ref Sequence

ENSEMBL: ENSMUSP00000145900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033161] [ENSMUST00000205438] [ENSMUST00000205520] [ENSMUST00000206079]

AlphaFold

Q9WU38

Predicted Effect

probably benign
Transcript: ENSMUST00000033161
AA Change: V122A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033161
Gene: ENSMUSG00000030873
AA Change: V122A

Domain	Start	End	E-Value	Type
Pfam:ASC	29	541	2.4e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205438

Predicted Effect

probably benign
Transcript: ENSMUST00000205520
AA Change: V122A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000206079

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,505,475 (GRCm39)	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,581,967 (GRCm39)	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251 (GRCm39)		probably null	Het
Aff1	G	A	5: 103,988,923 (GRCm39)	G830D	probably damaging	Het
AI987944	T	C	7: 41,023,873 (GRCm39)	T369A	possibly damaging	Het
Aoah	A	G	13: 21,184,283 (GRCm39)		probably null	Het
Arhgap40	C	G	2: 158,381,190 (GRCm39)	C349W	probably damaging	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Barhl2	A	T	5: 106,601,365 (GRCm39)	M338K	probably benign	Het
Btd	T	C	14: 31,388,747 (GRCm39)	V156A	probably damaging	Het
Catspere2	A	G	1: 177,874,552 (GRCm39)	K140E	unknown	Het
Ccdc82	T	C	9: 13,262,397 (GRCm39)	V319A	probably damaging	Het
Celsr1	G	T	15: 85,915,263 (GRCm39)	N903K	probably damaging	Het
Cenpf	T	A	1: 189,389,968 (GRCm39)	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,086,857 (GRCm39)	T252I	probably benign	Het
Cma2	T	C	14: 56,210,573 (GRCm39)	C87R	probably damaging	Het
Cops7a	T	A	6: 124,939,401 (GRCm39)	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,639,613 (GRCm39)	M205L	possibly damaging	Het
Dcc	A	G	18: 71,553,409 (GRCm39)	L749P	probably benign	Het
Dync1i2	C	T	2: 71,081,323 (GRCm39)	T484I	possibly damaging	Het
Epas1	A	T	17: 87,136,455 (GRCm39)	K742N	probably damaging	Het
Evc2	A	G	5: 37,506,094 (GRCm39)	T138A	probably benign	Het
F5	T	C	1: 164,035,457 (GRCm39)	I1877T	probably damaging	Het
Fat1	T	G	8: 45,406,201 (GRCm39)	V984G	probably benign	Het
Fat4	T	A	3: 39,034,928 (GRCm39)	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,436,427 (GRCm39)	R120H	probably damaging	Het
Gcnt3	T	C	9: 69,941,659 (GRCm39)	D303G	probably benign	Het
Gng11	A	T	6: 4,008,066 (GRCm39)	Y43F	probably benign	Het
Hectd4	A	C	5: 121,455,308 (GRCm39)	M651L	probably benign	Het
Ifngr2	T	A	16: 91,357,484 (GRCm39)	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,005,708 (GRCm39)	V512A	probably benign	Het
Kdm2a	A	C	19: 4,378,240 (GRCm39)	D187E	probably damaging	Het
Klhl8	A	G	5: 104,019,911 (GRCm39)	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,747,967 (GRCm39)		probably benign	Het
Krt12	C	A	11: 99,311,650 (GRCm39)	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,754,623 (GRCm39)	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	C	G	2: 121,136,889 (GRCm39)	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,532,593 (GRCm39)	Q301K	probably damaging	Het
Med12l	A	T	3: 59,001,038 (GRCm39)	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Mybph	C	T	1: 134,121,374 (GRCm39)	P45S	probably benign	Het
Myo15a	T	A	11: 60,392,527 (GRCm39)	S2157T	probably damaging	Het
Or14j2	G	T	17: 37,886,164 (GRCm39)	T50K	probably damaging	Het
Or1ab2	T	C	8: 72,863,623 (GRCm39)	V71A	probably benign	Het
Or2t35	T	A	14: 14,407,880 (GRCm38)	Y217*	probably null	Het
Or5h25	T	C	16: 58,930,967 (GRCm39)	E2G	probably benign	Het
Otogl	A	G	10: 107,634,218 (GRCm39)	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,601,667 (GRCm39)	F118L	probably damaging	Het
Pak5	T	C	2: 135,958,680 (GRCm39)	D136G	probably damaging	Het
Pik3r2	T	C	8: 71,223,250 (GRCm39)	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,254,052 (GRCm39)	N372S	probably benign	Het
Prss30	G	T	17: 24,191,806 (GRCm39)	N238K	possibly damaging	Het
Prss33	C	A	17: 24,053,785 (GRCm39)		probably null	Het
Ptpn4	T	C	1: 119,692,788 (GRCm39)	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357 (GRCm38)	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,558,324 (GRCm39)	V130A	probably benign	Het
Rdh7	A	T	10: 127,724,481 (GRCm39)	M1K	probably null	Het
Rtp3	A	C	9: 110,815,751 (GRCm39)	S205A	probably benign	Het
Ryr3	G	T	2: 112,539,618 (GRCm39)	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,313,803 (GRCm39)	T1972S	probably benign	Het
Slc15a4	A	G	5: 127,686,043 (GRCm39)	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,725,173 (GRCm39)	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,864,442 (GRCm39)	D530G	probably benign	Het
Tcf25	T	A	8: 124,108,289 (GRCm39)	S115T	probably benign	Het
Tet2	A	G	3: 133,172,613 (GRCm39)	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,211,105 (GRCm39)	R205*	probably null	Het
Ttc23	G	T	7: 67,375,069 (GRCm39)		probably null	Het
Tut7	T	C	13: 59,947,717 (GRCm39)	E466G	possibly damaging	Het
Unc13d	T	C	11: 115,959,499 (GRCm39)	K658R	probably null	Het
Vmn1r43	A	G	6: 89,846,572 (GRCm39)	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,551 (GRCm39)	C677S	probably benign	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Ythdc1	G	A	5: 86,975,981 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,343,408 (GRCm39)	R596*	probably null	Het

Other mutations in Scnn1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGCAAGCACTCTTTTGCTAGGACAC -3'
(R):5'- GGCTGTCCCCAAACAAATTGAGAAC -3'

Sequencing Primer
(F):5'- gcttgaacttaatgctcctcc -3'
(R):5'- ACAAATTGAGAACCACCGGG -3'

Posted On

2014-05-09