Mutagenetix > Incidental Mutation

Incidental Mutation 'R7145:Slc9a3'

553735

Institutional Source

Beutler Lab

Gene Symbol

Slc9a3

Ensembl Gene

ENSMUSG00000036123

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 3

Synonyms

NHE3, NHE-3, 9030624O13Rik

MMRRC Submission

045223-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74269576-74317561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74298797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 72 (K72R)

Ref Sequence

ENSEMBL: ENSMUSP00000038142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]

AlphaFold

G3X939

Predicted Effect

probably damaging
Transcript: ENSMUST00000036208
AA Change: K72R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: K72R

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_H_Exchanger	53	457	3.6e-87	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000221703
AA Change: K72R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225423
AA Change: K72R

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,820 (GRCm39)	Y1670H	probably damaging	Het
Abca12	T	C	1: 71,346,212 (GRCm39)	K886R	possibly damaging	Het
Adcy3	G	A	12: 4,250,992 (GRCm39)	E584K	probably benign	Het
Ano3	A	T	2: 110,693,205 (GRCm39)	V131D	probably benign	Het
Arhgdig	C	T	17: 26,418,337 (GRCm39)	W215*	probably null	Het
Cad	G	T	5: 31,224,956 (GRCm39)	W953L	possibly damaging	Het
Calhm2	T	C	19: 47,124,080 (GRCm39)	Y88C	probably benign	Het
Cdk5rap2	A	T	4: 70,156,468 (GRCm39)	D1681E	probably benign	Het
Cenpl	T	A	1: 160,910,482 (GRCm39)	L143H	possibly damaging	Het
Cherp	T	C	8: 73,222,230 (GRCm39)	K270E		Het
Cmss1	A	G	16: 57,131,718 (GRCm39)	I136T	probably benign	Het
Col23a1	T	C	11: 51,456,050 (GRCm39)		probably null	Het
Crnn	C	A	3: 93,055,689 (GRCm39)	D158E	probably damaging	Het
Dnmt3a	A	T	12: 3,922,844 (GRCm39)	Q149L	probably benign	Het
Dst	T	A	1: 34,228,963 (GRCm39)	N2185K	probably benign	Het
Eif1ad18	G	T	12: 88,050,597 (GRCm39)	C44F	probably benign	Het
Elp2	T	A	18: 24,737,126 (GRCm39)	N25K	probably benign	Het
Ephb4	A	T	5: 137,370,308 (GRCm39)	D845V	probably damaging	Het
Esyt3	T	C	9: 99,201,627 (GRCm39)	T561A	probably damaging	Het
F3	G	T	3: 121,525,235 (GRCm39)	V159L	probably damaging	Het
Fam81a	A	T	9: 70,017,560 (GRCm39)	D128E	probably damaging	Het
Flot1	T	G	17: 36,135,835 (GRCm39)	H155Q	probably benign	Het
Fut9	T	A	4: 25,620,507 (GRCm39)	K102N	probably damaging	Het
Gm6309	T	C	5: 146,107,100 (GRCm39)	Q82R	possibly damaging	Het
H13	A	G	2: 152,522,992 (GRCm39)	N102D	probably damaging	Het
Lamc2	C	G	1: 153,006,518 (GRCm39)	A878P	possibly damaging	Het
Lepr	C	T	4: 101,609,394 (GRCm39)	T327I	probably benign	Het
Lrp2	A	G	2: 69,285,152 (GRCm39)		probably null	Het
Ly86	A	G	13: 37,560,986 (GRCm39)	K116E	probably damaging	Het
Mapk8ip2	T	A	15: 89,343,201 (GRCm39)	F648I	possibly damaging	Het
Muc16	G	A	9: 18,566,876 (GRCm39)	T1881I	unknown	Het
Myh13	T	G	11: 67,245,566 (GRCm39)	S1069A	probably benign	Het
Myh4	T	A	11: 67,151,054 (GRCm39)	I1903N	possibly damaging	Het
Myo18b	A	T	5: 112,965,545 (GRCm39)	L1341*	probably null	Het
Naa25	G	T	5: 121,555,552 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ncapg	C	T	5: 45,827,372 (GRCm39)	A3V	possibly damaging	Het
Ncln	T	C	10: 81,324,086 (GRCm39)	H481R	probably benign	Het
Nek4	C	A	14: 30,704,305 (GRCm39)	Q607K	probably damaging	Het
Neo1	T	C	9: 58,796,462 (GRCm39)	Y1182C	probably damaging	Het
Npnt	T	C	3: 132,615,692 (GRCm39)	N165S	probably benign	Het
Or2l5	C	G	16: 19,333,649 (GRCm39)	V246L	probably damaging	Het
Or4p22	C	T	2: 88,317,721 (GRCm39)	S215L	probably damaging	Het
Or8b8	A	G	9: 37,808,859 (GRCm39)	H53R	probably benign	Het
Or8k30	T	C	2: 86,338,872 (GRCm39)	L23P	probably damaging	Het
Otulin	T	C	15: 27,608,856 (GRCm39)	Y229C	probably damaging	Het
Palld	A	T	8: 61,985,051 (GRCm39)	D1071E	unknown	Het
Pcdhb20	T	C	18: 37,638,142 (GRCm39)	S223P	probably damaging	Het
Pcdhga6	T	A	18: 37,840,781 (GRCm39)	I167N	probably damaging	Het
Pcdhgb4	A	G	18: 37,854,843 (GRCm39)	N413D	probably benign	Het
Pcdhgb8	T	A	18: 37,896,050 (GRCm39)	Y373*	probably null	Het
Plxna2	G	T	1: 194,331,830 (GRCm39)	V419L	probably benign	Het
Rpgrip1l	A	T	8: 91,959,434 (GRCm39)		probably null	Het
Rsrc2	A	G	5: 123,877,630 (GRCm39)		probably benign	Het
Scaper	C	T	9: 55,819,395 (GRCm39)	D107N	unknown	Het
Scgb2b3	T	A	7: 31,059,573 (GRCm39)	Y67F	probably benign	Het
Scn5a	G	A	9: 119,315,437 (GRCm39)	T1757I	probably damaging	Het
Sgo2b	G	A	8: 64,381,218 (GRCm39)	P538L	probably damaging	Het
Smchd1	T	A	17: 71,685,202 (GRCm39)	T1409S	probably benign	Het
Stab1	A	T	14: 30,867,030 (GRCm39)		probably null	Het
Sult2b1	T	C	7: 45,383,056 (GRCm39)	E242G	probably damaging	Het
Tcaf1	A	T	6: 42,663,687 (GRCm39)	H64Q	probably damaging	Het
Tle6	T	C	10: 81,435,910 (GRCm39)	T2A	possibly damaging	Het
Tmem115	T	C	9: 107,412,285 (GRCm39)	V203A	probably benign	Het
Tmem45b	G	A	9: 31,340,337 (GRCm39)	T108I	probably damaging	Het
Tmf1	A	T	6: 97,153,079 (GRCm39)	D331E	probably damaging	Het
Txndc9	T	C	1: 38,029,377 (GRCm39)	Y157C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r27	C	A	6: 124,168,711 (GRCm39)	R806S	probably benign	Het
Vmn2r59	G	A	7: 41,695,188 (GRCm39)	A408V	probably damaging	Het
Ythdc1	T	C	5: 86,964,467 (GRCm39)	V92A	probably benign	Het

Other mutations in Slc9a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Slc9a3	APN	13	74,308,421 (GRCm39)	missense	probably benign	0.19
IGL01299:Slc9a3	APN	13	74,308,382 (GRCm39)	missense	probably benign	0.33
IGL01390:Slc9a3	APN	13	74,298,880 (GRCm39)	missense	probably benign	0.01
IGL01814:Slc9a3	APN	13	74,314,091 (GRCm39)	missense	probably damaging	0.96
IGL02020:Slc9a3	APN	13	74,306,967 (GRCm39)	missense	probably damaging	0.99
IGL02072:Slc9a3	APN	13	74,313,978 (GRCm39)	missense	probably benign	0.00
IGL02186:Slc9a3	APN	13	74,311,233 (GRCm39)	missense	possibly damaging	0.94
IGL02878:Slc9a3	APN	13	74,313,476 (GRCm39)	nonsense	probably null
IGL03056:Slc9a3	APN	13	74,298,938 (GRCm39)	missense	probably damaging	1.00
R0090:Slc9a3	UTSW	13	74,306,847 (GRCm39)	missense	probably damaging	0.99
R0280:Slc9a3	UTSW	13	74,307,543 (GRCm39)	missense	probably damaging	1.00
R0359:Slc9a3	UTSW	13	74,305,726 (GRCm39)	missense	probably damaging	1.00
R0388:Slc9a3	UTSW	13	74,269,655 (GRCm39)	missense	unknown
R0396:Slc9a3	UTSW	13	74,305,903 (GRCm39)	critical splice donor site	probably null
R0893:Slc9a3	UTSW	13	74,307,365 (GRCm39)	missense	probably damaging	1.00
R1169:Slc9a3	UTSW	13	74,298,862 (GRCm39)	missense	probably damaging	0.98
R1640:Slc9a3	UTSW	13	74,306,937 (GRCm39)	missense	probably damaging	1.00
R1769:Slc9a3	UTSW	13	74,311,190 (GRCm39)	missense	probably benign	0.00
R1850:Slc9a3	UTSW	13	74,309,889 (GRCm39)	missense	probably benign	0.34
R1937:Slc9a3	UTSW	13	74,314,175 (GRCm39)	splice site	probably null
R2048:Slc9a3	UTSW	13	74,311,860 (GRCm39)	missense	probably damaging	1.00
R2146:Slc9a3	UTSW	13	74,269,722 (GRCm39)	missense	probably benign	0.00
R2495:Slc9a3	UTSW	13	74,306,822 (GRCm39)	missense	probably damaging	0.99
R2883:Slc9a3	UTSW	13	74,306,879 (GRCm39)	missense	probably damaging	1.00
R2938:Slc9a3	UTSW	13	74,269,788 (GRCm39)	missense	possibly damaging	0.62
R4538:Slc9a3	UTSW	13	74,309,851 (GRCm39)	missense	possibly damaging	0.56
R4580:Slc9a3	UTSW	13	74,307,005 (GRCm39)	nonsense	probably null
R4581:Slc9a3	UTSW	13	74,312,284 (GRCm39)	missense	probably damaging	0.99
R4841:Slc9a3	UTSW	13	74,313,956 (GRCm39)	missense	probably damaging	1.00
R4928:Slc9a3	UTSW	13	74,305,838 (GRCm39)	missense	probably damaging	1.00
R4965:Slc9a3	UTSW	13	74,312,412 (GRCm39)	missense	possibly damaging	0.62
R5079:Slc9a3	UTSW	13	74,312,406 (GRCm39)	missense	probably damaging	0.97
R5329:Slc9a3	UTSW	13	74,299,079 (GRCm39)	missense	possibly damaging	0.94
R5663:Slc9a3	UTSW	13	74,311,831 (GRCm39)	missense	probably damaging	0.98
R5876:Slc9a3	UTSW	13	74,309,842 (GRCm39)	missense	probably damaging	1.00
R5919:Slc9a3	UTSW	13	74,306,859 (GRCm39)	missense	probably damaging	0.98
R6060:Slc9a3	UTSW	13	74,299,004 (GRCm39)	missense	probably damaging	1.00
R6562:Slc9a3	UTSW	13	74,303,280 (GRCm39)	missense	probably damaging	1.00
R6645:Slc9a3	UTSW	13	74,312,291 (GRCm39)	missense	probably damaging	0.99
R7422:Slc9a3	UTSW	13	74,299,004 (GRCm39)	missense	probably damaging	1.00
R7565:Slc9a3	UTSW	13	74,305,813 (GRCm39)	missense	probably damaging	1.00
R7679:Slc9a3	UTSW	13	74,308,395 (GRCm39)	missense	possibly damaging	0.88
R8032:Slc9a3	UTSW	13	74,305,763 (GRCm39)	missense	probably damaging	1.00
R8080:Slc9a3	UTSW	13	74,314,146 (GRCm39)	missense	probably benign	0.30
R8158:Slc9a3	UTSW	13	74,303,241 (GRCm39)	missense	probably damaging	1.00
R8159:Slc9a3	UTSW	13	74,312,407 (GRCm39)	missense	probably benign	0.01
R8837:Slc9a3	UTSW	13	74,305,823 (GRCm39)	missense	probably damaging	1.00
R8939:Slc9a3	UTSW	13	74,311,895 (GRCm39)	missense	possibly damaging	0.93
R9111:Slc9a3	UTSW	13	74,298,920 (GRCm39)	missense	probably damaging	1.00
R9741:Slc9a3	UTSW	13	74,306,994 (GRCm39)	missense	possibly damaging	0.95
Z1176:Slc9a3	UTSW	13	74,313,975 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCTTCAGAATCCCAGCTG -3'
(R):5'- CGATTGGGCATGAAGTATCCAG -3'

Sequencing Primer
(F):5'- TCCCAGCTGGAAACTAGTTG -3'
(R):5'- TGGGCATGAAGTATCCAGCATCC -3'

Posted On

2019-05-15