Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Slc9a2'

365927

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc9a2

Ensembl Gene

ENSMUSG00000026062

Gene Name

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

Synonyms

2210416H12Rik, 4932415O19Rik, NHE2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

40680574-40769273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 40742703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 364 (M364R)

Ref Sequence

ENSEMBL: ENSMUSP00000027231 (fasta)

Gene Model

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

AlphaFold

Q3ZAS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027231
AA Change: M364R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: M364R

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

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	C	5: 9,461,478	Y947H	probably damaging	Het
Atp6ap1	A	G	X: 74,297,318	D47G	probably benign	Het
Atr	T	C	9: 95,865,261	F199L	probably benign	Het
Bivm	C	A	1: 44,142,960	H443N	probably benign	Het
Btnl2	A	T	17: 34,361,069	H192L	probably benign	Het
Ccdc178	A	T	18: 22,120,718	C155S	probably benign	Het
Celsr1	C	A	15: 85,901,472	V2934L	probably benign	Het
Celsr3	T	C	9: 108,849,453	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,204,279	E585V	possibly damaging	Het
Eps15l1	A	T	8: 72,384,762		probably benign	Het
Erlin1	G	T	19: 44,063,052	T70K	probably damaging	Het
Ext2	A	T	2: 93,704,619		probably null	Het
Fam124a	G	A	14: 62,555,919		probably null	Het
Fam53a	T	C	5: 33,607,759	D201G	probably damaging	Het
Fgf14	C	T	14: 124,132,479	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,564,623	T323S	probably benign	Het
Gemin5	A	T	11: 58,156,730	N339K	probably damaging	Het
Golga4	A	C	9: 118,534,632	K233T	probably damaging	Het
Golga4	A	G	9: 118,535,454	E286G	probably benign	Het
Gosr1	A	G	11: 76,750,906		probably benign	Het
Haus8	A	G	8: 71,255,717		probably benign	Het
Itgb3bp	T	C	4: 99,802,136	T49A	probably null	Het
Ldlrad4	A	G	18: 68,254,514	D299G	probably damaging	Het
Lpo	A	G	11: 87,815,178	M273T	possibly damaging	Het
Map3k4	T	A	17: 12,272,149	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,177,279	T2566P	probably benign	Het
Nalcn	T	C	14: 123,298,872	E1255G	probably null	Het
Nop56	A	T	2: 130,278,197	K157N	probably damaging	Het
Olfr802	A	T	10: 129,681,988	Y250*	probably null	Het
Olfr979	C	T	9: 40,000,898	E110K	probably benign	Het
Pcdh15	A	G	10: 74,504,816		probably benign	Het
Pi4ka	T	C	16: 17,354,210	H557R	probably damaging	Het
Plekha4	C	T	7: 45,532,363	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,298,407		probably benign	Het
Rgmb	C	T	17: 15,807,493	M321I	probably benign	Het
Rnf31	T	C	14: 55,595,674	S363P	probably benign	Het
Sap18b	T	A	8: 95,825,701	M113K	probably benign	Het
Scara3	T	A	14: 65,931,656	M171L	probably benign	Het
Sorcs1	C	T	19: 50,677,930	W180*	probably null	Het
Stat6	T	A	10: 127,646,940	M10K	probably benign	Het
Sun1	T	C	5: 139,235,488		probably benign	Het
Tead2	T	C	7: 45,220,434		probably benign	Het
Tjp1	T	G	7: 65,314,890	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,370,550	S295P	probably damaging	Het
Ttn	G	A	2: 76,782,412	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,881,183		probably null	Het
Vmn2r108	T	A	17: 20,471,283	H326L	probably benign	Het
Xdh	A	G	17: 73,943,845		probably null	Het
Zfp385b	A	G	2: 77,412,059	S439P	probably benign	Het
Zfp597	G	A	16: 3,865,941	S317L	probably benign	Het
Zfp638	A	G	6: 83,969,232	D1081G	probably damaging	Het
Zfp93	C	T	7: 24,275,084	H165Y	possibly 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
IGL03193:Slc9a2	APN	1	40756271	missense	probably benign	0.00
putty	UTSW	1	40742653	nonsense	probably null
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
R2166:Slc9a2	UTSW	1	40742768	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
R8887:Slc9a2	UTSW	1	40718849	missense	probably benign	0.01
R9028:Slc9a2	UTSW	1	40726452	missense	probably damaging	1.00
R9189:Slc9a2	UTSW	1	40755784	missense	probably benign	0.21
R9245:Slc9a2	UTSW	1	40766300	missense	probably benign	0.27
R9250:Slc9a2	UTSW	1	40767827	missense	probably benign	0.00
R9400:Slc9a2	UTSW	1	40719051	missense	possibly damaging	0.65
R9512:Slc9a2	UTSW	1	40682098	missense	probably damaging	0.98
R9583:Slc9a2	UTSW	1	40681901	missense	probably benign
X0054:Slc9a2	UTSW	1	40742687	missense	probably damaging	0.99
Z1176:Slc9a2	UTSW	1	40767711	missense	probably damaging	1.00

Posted On

2015-12-18