Mutagenetix > Incidental Mutation

Incidental Mutation 'R8776-TAIL:Slc9a2'

668051

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8776-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40680574-40769273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40742729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 373 (T373A)

Ref Sequence

ENSEMBL: ENSMUSP00000027231 (fasta)

Gene Model

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

AlphaFold

Q3ZAS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027231
AA Change: T373A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: T373A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,354,990	Y117H	probably benign	Het
a	A	G	2: 155,050,692	D97G	probably damaging	Het
Cdca7l	T	C	12: 117,872,363	S190P	probably damaging	Het
Chst9	T	A	18: 15,453,029	Y159F	possibly damaging	Het
Col26a1	G	A	5: 136,882,854	R52C	probably damaging	Het
Dchs2	A	T	3: 83,356,394	D3323V	possibly damaging	Het
Dqx1	T	A	6: 83,058,638	I44N	probably damaging	Het
Edc4	A	G	8: 105,887,360	D415G	probably damaging	Het
Enpp3	T	A	10: 24,774,835	D801V	probably damaging	Het
Fam13b	G	A	18: 34,451,393	R573C	probably damaging	Het
Fgfr2	A	T	7: 130,196,272	I415N	possibly damaging	Het
Gm32742	T	A	9: 51,155,930	M366L	probably benign	Het
Gm49336	A	T	14: 60,220,066	S563T	possibly damaging	Het
Gm5475	T	C	15: 100,427,011	F107L	unknown	Het
Lamp3	T	C	16: 19,655,502	D374G	probably damaging	Het
Lin9	T	C	1: 180,668,885		probably null	Het
Mef2d	T	C	3: 88,167,649	S381P	probably benign	Het
Mfsd9	A	G	1: 40,773,755	*467Q	probably null	Het
Mpo	A	G	11: 87,802,712	I639V	possibly damaging	Het
Mrgprh	T	C	17: 12,877,488	I205T	probably benign	Het
Ncapd2	T	C	6: 125,177,513	D580G	probably benign	Het
Nkain4	T	A	2: 180,944,127	I48F	probably damaging	Het
Notch4	C	A	17: 34,587,605	R1839S	probably damaging	Het
Nr6a1	A	G	2: 38,760,232	Y129H	probably damaging	Het
Olfr832	T	A	9: 18,944,990	I114N	possibly damaging	Het
Robo1	G	T	16: 73,024,253	E1294*	probably null	Het
Sept8	A	G	11: 53,537,516	K331R	probably benign	Het
Shmt2	A	G	10: 127,520,916		probably null	Het
Skint6	A	C	4: 112,804,688	L1233R	possibly damaging	Het
Slc41a3	A	T	6: 90,644,183	T402S	probably benign	Het
Spata31d1b	T	C	13: 59,715,469	C144R	probably benign	Het
Syne1	A	G	10: 5,231,783	V4184A	possibly damaging	Het
Tenm4	G	A	7: 96,895,032	R2122H	probably damaging	Het
Tlnrd1	A	T	7: 83,883,108	D38E	probably benign	Het
Tnnc2	C	T	2: 164,778,215	A6T	probably benign	Het
Usp9y	A	G	Y: 1,356,320	V1127A	probably benign	Het
Ylpm1	T	C	12: 85,030,421	Y1307H	probably damaging	Het
Zfp266	T	C	9: 20,500,213	S223G	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
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
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

Predicted Primers

Posted On

2021-03-08