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

9030624O13Rik, NHE-3, NHE3

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

74121457-74169442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74150678 bp (GRCm38)

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: 138,070,059	Y1670H	probably damaging	Het
Abca12	T	C	1: 71,307,053	K886R	possibly damaging	Het
Adcy3	G	A	12: 4,200,992	E584K	probably benign	Het
Ano3	A	T	2: 110,862,860	V131D	probably benign	Het
Arhgdig	C	T	17: 26,199,363	W215*	probably null	Het
Cad	G	T	5: 31,067,612	W953L	possibly damaging	Het
Calhm2	T	C	19: 47,135,641	Y88C	probably benign	Het
Cdk5rap2	A	T	4: 70,238,231	D1681E	probably benign	Het
Cenpl	T	A	1: 161,082,912	L143H	possibly damaging	Het
Cherp	T	C	8: 72,468,386	K270E		Het
Cmss1	A	G	16: 57,311,355	I136T	probably benign	Het
Col23a1	T	C	11: 51,565,223		probably null	Het
Crnn	C	A	3: 93,148,382	D158E	probably damaging	Het
Dnmt3a	A	T	12: 3,872,844	Q149L	probably benign	Het
Dst	T	A	1: 34,189,882	N2185K	probably benign	Het
Elp2	T	A	18: 24,604,069	N25K	probably benign	Het
Ephb4	A	T	5: 137,372,046	D845V	probably damaging	Het
Esyt3	T	C	9: 99,319,574	T561A	probably damaging	Het
F3	G	T	3: 121,731,586	V159L	probably damaging	Het
Fam81a	A	T	9: 70,110,278	D128E	probably damaging	Het
Flot1	T	G	17: 35,824,943	H155Q	probably benign	Het
Fut9	T	A	4: 25,620,507	K102N	probably damaging	Het
Gm16368	G	T	12: 88,083,827	C44F	probably benign	Het
Gm6309	T	C	5: 146,170,290	Q82R	possibly damaging	Het
H13	A	G	2: 152,681,072	N102D	probably damaging	Het
Lamc2	C	G	1: 153,130,772	A878P	possibly damaging	Het
Lepr	C	T	4: 101,752,197	T327I	probably benign	Het
Lrp2	A	G	2: 69,454,808		probably null	Het
Ly86	A	G	13: 37,377,010	K116E	probably damaging	Het
Mapk8ip2	T	A	15: 89,458,998	F648I	possibly damaging	Het
Muc16	G	A	9: 18,655,580	T1881I	unknown	Het
Myh13	T	G	11: 67,354,740	S1069A	probably benign	Het
Myh4	T	A	11: 67,260,228	I1903N	possibly damaging	Het
Myo18b	A	T	5: 112,817,679	L1341*	probably null	Het
Naa25	G	T	5: 121,417,489		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ncapg	C	T	5: 45,670,030	A3V	possibly damaging	Het
Ncln	T	C	10: 81,488,252	H481R	probably benign	Het
Nek4	C	A	14: 30,982,348	Q607K	probably damaging	Het
Neo1	T	C	9: 58,889,179	Y1182C	probably damaging	Het
Npnt	T	C	3: 132,909,931	N165S	probably benign	Het
Olfr1076	T	C	2: 86,508,528	L23P	probably damaging	Het
Olfr1184	C	T	2: 88,487,377	S215L	probably damaging	Het
Olfr145	A	G	9: 37,897,563	H53R	probably benign	Het
Olfr167	C	G	16: 19,514,899	V246L	probably damaging	Het
Otulin	T	C	15: 27,608,770	Y229C	probably damaging	Het
Palld	A	T	8: 61,532,017	D1071E	unknown	Het
Pcdhb20	T	C	18: 37,505,089	S223P	probably damaging	Het
Pcdhga6	T	A	18: 37,707,728	I167N	probably damaging	Het
Pcdhgb4	A	G	18: 37,721,790	N413D	probably benign	Het
Pcdhgb8	T	A	18: 37,762,997	Y373*	probably null	Het
Plxna2	G	T	1: 194,649,522	V419L	probably benign	Het
Rpgrip1l	A	T	8: 91,232,806		probably null	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Scaper	C	T	9: 55,912,111	D107N	unknown	Het
Scgb2b3	T	A	7: 31,360,148	Y67F	probably benign	Het
Scn5a	G	A	9: 119,486,371	T1757I	probably damaging	Het
Sgo2b	G	A	8: 63,928,184	P538L	probably damaging	Het
Smchd1	T	A	17: 71,378,207	T1409S	probably benign	Het
Stab1	A	T	14: 31,145,073		probably null	Het
Sult2b1	T	C	7: 45,733,632	E242G	probably damaging	Het
Tcaf1	A	T	6: 42,686,753	H64Q	probably damaging	Het
Tle6	T	C	10: 81,600,076	T2A	possibly damaging	Het
Tmem115	T	C	9: 107,535,086	V203A	probably benign	Het
Tmem45b	G	A	9: 31,429,041	T108I	probably damaging	Het
Tmf1	A	T	6: 97,176,118	D331E	probably damaging	Het
Txndc9	T	C	1: 37,990,296	Y157C	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r27	C	A	6: 124,191,752	R806S	probably benign	Het
Vmn2r59	G	A	7: 42,045,764	A408V	probably damaging	Het
Ythdc1	T	C	5: 86,816,608	V92A	probably benign	Het

Other mutations in Slc9a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Slc9a3	APN	13	74160302	missense	probably benign	0.19
IGL01299:Slc9a3	APN	13	74160263	missense	probably benign	0.33
IGL01390:Slc9a3	APN	13	74150761	missense	probably benign	0.01
IGL01814:Slc9a3	APN	13	74165972	missense	probably damaging	0.96
IGL02020:Slc9a3	APN	13	74158848	missense	probably damaging	0.99
IGL02072:Slc9a3	APN	13	74165859	missense	probably benign	0.00
IGL02186:Slc9a3	APN	13	74163114	missense	possibly damaging	0.94
IGL02878:Slc9a3	APN	13	74165357	nonsense	probably null
IGL03056:Slc9a3	APN	13	74150819	missense	probably damaging	1.00
R0090:Slc9a3	UTSW	13	74158728	missense	probably damaging	0.99
R0280:Slc9a3	UTSW	13	74159424	missense	probably damaging	1.00
R0359:Slc9a3	UTSW	13	74157607	missense	probably damaging	1.00
R0388:Slc9a3	UTSW	13	74121536	missense	unknown
R0396:Slc9a3	UTSW	13	74157784	critical splice donor site	probably null
R0893:Slc9a3	UTSW	13	74159246	missense	probably damaging	1.00
R1169:Slc9a3	UTSW	13	74150743	missense	probably damaging	0.98
R1640:Slc9a3	UTSW	13	74158818	missense	probably damaging	1.00
R1769:Slc9a3	UTSW	13	74163071	missense	probably benign	0.00
R1850:Slc9a3	UTSW	13	74161770	missense	probably benign	0.34
R1937:Slc9a3	UTSW	13	74166056	splice site	probably null
R2048:Slc9a3	UTSW	13	74163741	missense	probably damaging	1.00
R2146:Slc9a3	UTSW	13	74121603	missense	probably benign	0.00
R2495:Slc9a3	UTSW	13	74158703	missense	probably damaging	0.99
R2883:Slc9a3	UTSW	13	74158760	missense	probably damaging	1.00
R2938:Slc9a3	UTSW	13	74121669	missense	possibly damaging	0.62
R4538:Slc9a3	UTSW	13	74161732	missense	possibly damaging	0.56
R4580:Slc9a3	UTSW	13	74158886	nonsense	probably null
R4581:Slc9a3	UTSW	13	74164165	missense	probably damaging	0.99
R4841:Slc9a3	UTSW	13	74165837	missense	probably damaging	1.00
R4928:Slc9a3	UTSW	13	74157719	missense	probably damaging	1.00
R4965:Slc9a3	UTSW	13	74164293	missense	possibly damaging	0.62
R5079:Slc9a3	UTSW	13	74164287	missense	probably damaging	0.97
R5329:Slc9a3	UTSW	13	74150960	missense	possibly damaging	0.94
R5663:Slc9a3	UTSW	13	74163712	missense	probably damaging	0.98
R5876:Slc9a3	UTSW	13	74161723	missense	probably damaging	1.00
R5919:Slc9a3	UTSW	13	74158740	missense	probably damaging	0.98
R6060:Slc9a3	UTSW	13	74150885	missense	probably damaging	1.00
R6562:Slc9a3	UTSW	13	74155161	missense	probably damaging	1.00
R6645:Slc9a3	UTSW	13	74164172	missense	probably damaging	0.99
R7422:Slc9a3	UTSW	13	74150885	missense	probably damaging	1.00
R7565:Slc9a3	UTSW	13	74157694	missense	probably damaging	1.00
R7679:Slc9a3	UTSW	13	74160276	missense	possibly damaging	0.88
R8032:Slc9a3	UTSW	13	74157644	missense	probably damaging	1.00
R8080:Slc9a3	UTSW	13	74166027	missense	probably benign	0.30
R8158:Slc9a3	UTSW	13	74155122	missense	probably damaging	1.00
R8159:Slc9a3	UTSW	13	74164288	missense	probably benign	0.01
R8837:Slc9a3	UTSW	13	74157704	missense	probably damaging	1.00
R8939:Slc9a3	UTSW	13	74163776	missense	possibly damaging	0.93
R9111:Slc9a3	UTSW	13	74150801	missense	probably damaging	1.00
R9741:Slc9a3	UTSW	13	74158875	missense	possibly damaging	0.95
Z1176:Slc9a3	UTSW	13	74165856	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