Mutagenetix > Incidental Mutations

Incidental Mutation 'R1712:Slc9a2'

190636

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

039745-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40680574-40769273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40763610 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 607 (S607P)

Ref Sequence

ENSEMBL: ENSMUSP00000027231 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027231
AA Change: S607P

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: S607P

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,848,103	E12D	probably damaging	Het
Ahnak2	C	A	12: 112,785,378	R283L	probably benign	Het
BC005624	T	C	2: 30,974,008	E191G	probably damaging	Het
C1galt1	A	G	6: 7,871,217	N351S	probably benign	Het
Ccdc162	T	C	10: 41,539,431	R2179G	probably benign	Het
Ccdc88c	G	A	12: 100,939,025	T1108M	probably benign	Het
Cd47	T	C	16: 49,894,180	L184P	probably damaging	Het
Cdc40	T	C	10: 40,841,376	K440E	probably damaging	Het
Cenpe	G	A	3: 135,265,933	V2262I	probably damaging	Het
Cep290	A	G	10: 100,554,499	K2035E	probably benign	Het
Cks1brt	G	T	8: 85,171,543	L8F	probably benign	Het
Col17a1	T	C	19: 47,649,003		probably benign	Het
Coro6	A	T	11: 77,469,467	N421I	probably benign	Het
Cps1	T	C	1: 67,230,281	S1480P	probably damaging	Het
Csrnp3	G	T	2: 66,002,482	A110S	probably damaging	Het
Cyp2d10	G	T	15: 82,403,039	T461K	probably damaging	Het
Dmxl2	A	G	9: 54,401,485	V1994A	probably benign	Het
Dnah11	T	A	12: 118,196,644	N117I	probably benign	Het
Dnajc3	A	G	14: 118,957,895	Y74C	probably damaging	Het
Fam13c	T	A	10: 70,554,573	F555I	possibly damaging	Het
Fbn1	T	A	2: 125,346,434	D1495V	probably damaging	Het
Fbrsl1	T	C	5: 110,447,996	T58A	probably benign	Het
Gjc1	A	G	11: 102,800,880	I99T	possibly damaging	Het
Glce	T	C	9: 62,070,575	N9S	probably damaging	Het
Gosr1	T	C	11: 76,750,878	T125A	possibly damaging	Het
Ifi27	T	A	12: 103,439,943		probably null	Het
Jph1	C	T	1: 17,097,232	D125N	possibly damaging	Het
Kbtbd12	A	T	6: 88,618,694	S51R	probably damaging	Het
Klra9	A	T	6: 130,189,696		probably null	Het
Kmo	A	T	1: 175,656,723	M340L	probably benign	Het
Lama1	T	C	17: 67,717,186	I93T	possibly damaging	Het
Limk2	A	T	11: 3,358,104		probably null	Het
Mgat5	C	A	1: 127,320,638	N92K	probably benign	Het
Mib2	T	A	4: 155,654,799	I908F	probably damaging	Het
Mical1	T	G	10: 41,480,363	L304R	probably damaging	Het
Mtbp	G	T	15: 55,571,294		probably null	Het
Myo3a	T	C	2: 22,564,992	Y70H	probably damaging	Het
Neb	T	C	2: 52,243,389	Y3379C	probably damaging	Het
Neurod2	G	T	11: 98,327,203	N378K	probably damaging	Het
Olfr1051	T	A	2: 86,275,993	T165S	probably damaging	Het
Olfr117	A	G	17: 37,659,908	S142P	probably benign	Het
Olfr1286	T	A	2: 111,420,658	M98L	probably benign	Het
Olfr986	A	G	9: 40,187,865	Y250C	probably damaging	Het
Oog4	G	A	4: 143,439,914	L107F	probably damaging	Het
Pfdn6	T	C	17: 33,939,554	Y82C	probably damaging	Het
Pla2g4d	C	A	2: 120,277,490	A313S	possibly damaging	Het
Ptcd3	C	A	6: 71,908,653	E30*	probably null	Het
Rai1	A	G	11: 60,187,602	T831A	probably benign	Het
Rims1	G	A	1: 22,296,948	T1176M	probably damaging	Het
Rin1	A	C	19: 5,055,143	I744L	probably benign	Het
Rora	T	A	9: 69,375,489	S430T	probably benign	Het
Rsph10b	T	A	5: 143,937,149	S23T	probably damaging	Het
Ryr1	T	C	7: 29,047,503	N3773S	probably benign	Het
Scn4a	A	G	11: 106,339,354	Y543H	probably damaging	Het
Scn4a	C	A	11: 106,345,547	G296C	probably benign	Het
Scn7a	T	C	2: 66,705,103	T435A	probably benign	Het
Shank2	G	T	7: 144,411,153	D833Y	probably damaging	Het
Slx4	G	A	16: 3,991,594	R346W	probably damaging	Het
Spata20	A	T	11: 94,480,514	C675S	probably benign	Het
Suclg2	A	T	6: 95,587,016	I196N	probably damaging	Het
Sv2b	G	A	7: 75,149,059	H272Y	possibly damaging	Het
Svep1	T	C	4: 58,070,629	I2386V	probably benign	Het
Taf13	A	T	3: 108,581,129	E109D	possibly damaging	Het
Tanc2	A	G	11: 105,899,780	T976A	probably benign	Het
Tax1bp1	A	G	6: 52,729,326	Y104C	probably damaging	Het
Tfeb	T	C	17: 47,788,986		probably null	Het
Tlr9	T	C	9: 106,224,049	Y180H	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Ttc12	T	A	9: 49,445,199	T510S	probably benign	Het
Ubqln1	T	C	13: 58,192,081	E280G	probably damaging	Het
Urm1	T	C	2: 29,841,425	W44R	probably damaging	Het
Usp32	A	T	11: 85,042,580	I34N	probably benign	Het
Vars	T	C	17: 35,014,752	L1018P	probably damaging	Het
Vcan	A	T	13: 89,721,775	V206D	probably damaging	Het
Vim	T	C	2: 13,578,459	V224A	probably damaging	Het
Vmn2r106	G	T	17: 20,278,735	H305N	probably benign	Het
Vmn2r78	A	G	7: 86,954,924	N770S	probably damaging	Het
Wdr33	T	A	18: 31,896,631	L961Q	unknown	Het
Xylt2	A	G	11: 94,668,749	S356P	possibly damaging	Het
Zbtb14	A	G	17: 69,387,580	N91S	probably damaging	Het
Zc3h6	T	C	2: 129,016,734	L895S	probably damaging	Het
Zc3h7b	C	T	15: 81,777,088	P376L	probably benign	Het
Zfp131	T	C	13: 119,766,543	T523A	probably benign	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
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
X0054:Slc9a2	UTSW	1	40742687	missense	probably damaging	0.99
Z1176:Slc9a2	UTSW	1	40767711	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGCTACAACACAGACATTGGG -3'
(R):5'- GGTCAGCACATCAGCCTTTGTCTC -3'

Sequencing Primer
(F):5'- GTAATAGTTGACCCTGGAACCTC -3'
(R):5'- ACTTAGCGGGCTCCAGAATG -3'

Posted On

2014-05-14