Mutagenetix > Incidental Mutations

Incidental Mutation 'R2166:Slc9a2'

235474

Institutional Source

Beutler Lab

Gene Symbol

Slc9a2

Ensembl Gene

ENSMUSG00000026062

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 2

Synonyms

2210416H12Rik, 4932415O19Rik, NHE2

MMRRC Submission

040169-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2166 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40680574-40769273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40742768 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 386 (K386E)

Ref Sequence

ENSEMBL: ENSMUSP00000027231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027231]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027231
AA Change: K386E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: K386E

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
low complexity region	40	60	N/A	INTRINSIC
Pfam:Na_H_Exchanger	85	486	1.4e-95	PFAM
low complexity region	528	543	N/A	INTRINSIC
Pfam:NEXCaM_BD	576	685	3e-44	PFAM
low complexity region	738	753	N/A	INTRINSIC
low complexity region	788	793	N/A	INTRINSIC

Meta Mutation Damage Score

0.0960

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]
PHENOTYPE: Gastric acid secretion is impaired in homozygous mutant mice. The gastric mucosa becomes inflamed and exhibits an altered cellular composition. Mutant mice do not breed well. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,568,643	F779I	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Birc6	A	T	17: 74,635,795	T2761S	probably benign	Het
Cav1	A	T	6: 17,339,431	I141F	possibly damaging	Het
Gm973	A	G	1: 59,526,739	D39G	possibly damaging	Het
Gpr1	A	G	1: 63,183,948	F43L	probably benign	Het
Gucy1a2	T	A	9: 3,579,513		probably null	Het
Il1b	A	T	2: 129,365,048	M264K	probably damaging	Het
Itpr1	A	G	6: 108,388,225	Y38C	probably damaging	Het
Kcnb2	A	C	1: 15,711,316	D804A	possibly damaging	Het
Kcnt1	T	A	2: 25,891,183		probably benign	Het
Krt6b	T	C	15: 101,678,615		probably null	Het
Mef2a	A	G	7: 67,266,122	V144A	probably damaging	Het
Mroh3	A	G	1: 136,186,053	M666T	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nalcn	T	A	14: 123,369,951	Y702F	probably benign	Het
Napepld	T	A	5: 21,683,232	K73I	possibly damaging	Het
Olfr191	T	A	16: 59,085,586	K299I	probably benign	Het
Olfr935	G	A	9: 38,995,217	Q73*	probably null	Het
Pappa	A	C	4: 65,156,445	D412A	probably damaging	Het
Plbd1	A	G	6: 136,613,790		probably null	Het
Ppp1r10	G	T	17: 35,930,589	R752L	unknown	Het
Prep	T	C	10: 45,092,655		probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptprz1	A	G	6: 23,045,633	N2134S	possibly damaging	Het
Rhbdl3	A	G	11: 80,319,697	Y92C	probably damaging	Het
Rtkn2	T	C	10: 68,041,696	S532P	possibly damaging	Het
Rtl1	T	A	12: 109,590,554	H1617L	probably damaging	Het
Skint6	T	A	4: 112,854,452	N956I	probably benign	Het
Slc13a2	A	G	11: 78,403,075	V287A	probably benign	Het
Spata20	G	A	11: 94,479,104	H789Y	probably benign	Het
Stk19	A	G	17: 34,832,510	I23T	possibly damaging	Het
Tonsl	A	G	15: 76,637,313	I293T	probably benign	Het
Topbp1	A	G	9: 103,312,929		probably null	Het
Trappc2l	T	A	8: 122,613,162	S44T	probably benign	Het
Tsr1	A	G	11: 74,907,454		probably null	Het
Ugdh	A	G	5: 65,417,014		probably benign	Het
Unc119	A	G	11: 78,347,335		probably null	Het
Zkscan14	G	A	5: 145,196,134	P196S	probably benign	Het
Zmat4	T	C	8: 23,902,136	L36P	probably damaging	Het

Other mutations in Slc9a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Slc9a2	APN	1	40767737	missense	probably benign
IGL00487:Slc9a2	APN	1	40742658	missense	probably damaging	0.99
IGL00500:Slc9a2	APN	1	40763583	missense	possibly damaging	0.95
IGL01445:Slc9a2	APN	1	40718810	missense	possibly damaging	0.51
IGL02060:Slc9a2	APN	1	40756293	missense	probably damaging	0.99
IGL02813:Slc9a2	APN	1	40742669	missense	probably damaging	1.00
IGL02894:Slc9a2	APN	1	40763602	missense	probably benign	0.20
IGL02939:Slc9a2	APN	1	40742703	missense	probably damaging	1.00
IGL03193:Slc9a2	APN	1	40756271	missense	probably benign	0.00
E0370:Slc9a2	UTSW	1	40763541	critical splice acceptor site	probably null
PIT4377001:Slc9a2	UTSW	1	40743841	missense	probably damaging	1.00
R0009:Slc9a2	UTSW	1	40763602	missense	probably benign	0.38
R0009:Slc9a2	UTSW	1	40763602	missense	probably benign	0.38
R0152:Slc9a2	UTSW	1	40742804	missense	probably damaging	1.00
R0374:Slc9a2	UTSW	1	40743857	missense	possibly damaging	0.93
R1386:Slc9a2	UTSW	1	40719018	missense	probably damaging	1.00
R1485:Slc9a2	UTSW	1	40726388	missense	probably damaging	1.00
R1712:Slc9a2	UTSW	1	40763610	missense	possibly damaging	0.90
R1779:Slc9a2	UTSW	1	40742643	missense	probably damaging	0.99
R2051:Slc9a2	UTSW	1	40726437	missense	probably damaging	1.00
R2513:Slc9a2	UTSW	1	40742608	splice site	probably null
R3612:Slc9a2	UTSW	1	40719058	splice site	probably null
R4631:Slc9a2	UTSW	1	40761918	missense	possibly damaging	0.66
R4760:Slc9a2	UTSW	1	40761916	missense	probably damaging	1.00
R4768:Slc9a2	UTSW	1	40726374	missense	probably damaging	1.00
R4769:Slc9a2	UTSW	1	40726374	missense	probably damaging	1.00
R4815:Slc9a2	UTSW	1	40718849	missense	probably benign	0.00
R4920:Slc9a2	UTSW	1	40755718	missense	probably benign	0.05
R5191:Slc9a2	UTSW	1	40743893	missense	probably damaging	1.00
R5963:Slc9a2	UTSW	1	40682036	missense	possibly damaging	0.94
R6322:Slc9a2	UTSW	1	40742653	nonsense	probably null
R6453:Slc9a2	UTSW	1	40742621	missense	possibly damaging	0.64
R6685:Slc9a2	UTSW	1	40718909	missense	probably damaging	0.99
R7088:Slc9a2	UTSW	1	40726379	missense	probably damaging	1.00
R7302:Slc9a2	UTSW	1	40767668	missense	possibly damaging	0.58
R7450:Slc9a2	UTSW	1	40681835	start gained	probably benign
R7670:Slc9a2	UTSW	1	40718997	missense	probably damaging	1.00
R7970:Slc9a2	UTSW	1	40726214	missense	probably damaging	0.98
R8104:Slc9a2	UTSW	1	40718649	missense	probably damaging	1.00
R8776:Slc9a2	UTSW	1	40742729	missense	probably damaging	1.00
R8776-TAIL:Slc9a2	UTSW	1	40742729	missense	probably damaging	1.00
X0054:Slc9a2	UTSW	1	40742687	missense	probably damaging	0.99
Z1176:Slc9a2	UTSW	1	40767711	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-10-01