Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01445:Slc9a2'

84380

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: 0.057) question?

Stock #

IGL01445

Quality Score

Status

Chromosome

Chromosomal Location

40680574-40769273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40718810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 170 (I170V)

Ref Sequence

ENSEMBL: ENSMUSP00000027231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027231] [ENSMUST00000192345]

AlphaFold

Q3ZAS0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027231
AA Change: I170V

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: I170V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000192345
AA Change: I170V

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142144
Gene: ENSMUSG00000026062
AA Change: I170V

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	336	2.5e-56	PFAM

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,945,798 (GRCm38)	I499M	probably benign	Het
AI314180	T	C	4: 58,833,988 (GRCm38)	T831A	probably benign	Het
Aldh1l2	A	T	10: 83,520,262 (GRCm38)		probably benign	Het
Arid3a	A	G	10: 79,950,634 (GRCm38)	D407G	probably damaging	Het
Aunip	A	G	4: 134,523,007 (GRCm38)	T88A	probably benign	Het
Blzf1	A	T	1: 164,302,620 (GRCm38)	N47K	possibly damaging	Het
Cd177	G	T	7: 24,752,071 (GRCm38)	T469N	possibly damaging	Het
Cep70	C	T	9: 99,298,500 (GRCm38)		probably benign	Het
Cntn5	T	C	9: 9,693,484 (GRCm38)		probably benign	Het
Cntnap2	C	T	6: 47,193,013 (GRCm38)	H1138Y	probably benign	Het
Coa5	G	A	1: 37,420,578 (GRCm38)		probably benign	Het
Coro1a	T	C	7: 126,701,529 (GRCm38)	T168A	probably benign	Het
Fbxo43	A	G	15: 36,151,826 (GRCm38)	Y582H	probably damaging	Het
Lyst	T	C	13: 13,651,714 (GRCm38)	V1602A	probably benign	Het
Nbeal1	G	T	1: 60,242,625 (GRCm38)		probably null	Het
Olfr622	A	G	7: 103,639,832 (GRCm38)	Y103H	probably damaging	Het
Olfr984	C	T	9: 40,101,312 (GRCm38)	M59I	probably benign	Het
Pprc1	C	T	19: 46,065,232 (GRCm38)		probably benign	Het
Prom2	T	C	2: 127,539,513 (GRCm38)		probably benign	Het
Sorcs1	T	C	19: 50,153,066 (GRCm38)	Y1120C	probably damaging	Het
Tmem63a	C	T	1: 180,946,631 (GRCm38)	R18C	probably damaging	Het
Tnk1	A	T	11: 69,855,905 (GRCm38)		probably benign	Het
Top2a	A	T	11: 99,011,030 (GRCm38)	L458Q	probably damaging	Het
Tpsg1	C	A	17: 25,372,498 (GRCm38)	S24*	probably null	Het
Vmn2r72	T	C	7: 85,749,646 (GRCm38)	M500V	probably benign	Het

Other mutations in Slc9a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Slc9a2	APN	1	40,767,737 (GRCm38)	missense	probably benign
IGL00487:Slc9a2	APN	1	40,742,658 (GRCm38)	missense	probably damaging	0.99
IGL00500:Slc9a2	APN	1	40,763,583 (GRCm38)	missense	possibly damaging	0.95
IGL02060:Slc9a2	APN	1	40,756,293 (GRCm38)	missense	probably damaging	0.99
IGL02813:Slc9a2	APN	1	40,742,669 (GRCm38)	missense	probably damaging	1.00
IGL02894:Slc9a2	APN	1	40,763,602 (GRCm38)	missense	probably benign	0.20
IGL02939:Slc9a2	APN	1	40,742,703 (GRCm38)	missense	probably damaging	1.00
IGL03193:Slc9a2	APN	1	40,756,271 (GRCm38)	missense	probably benign	0.00
putty	UTSW	1	40,742,653 (GRCm38)	nonsense	probably null
E0370:Slc9a2	UTSW	1	40,763,541 (GRCm38)	critical splice acceptor site	probably null
PIT4377001:Slc9a2	UTSW	1	40,743,841 (GRCm38)	missense	probably damaging	1.00
R0009:Slc9a2	UTSW	1	40,763,602 (GRCm38)	missense	probably benign	0.38
R0009:Slc9a2	UTSW	1	40,763,602 (GRCm38)	missense	probably benign	0.38
R0152:Slc9a2	UTSW	1	40,742,804 (GRCm38)	missense	probably damaging	1.00
R0374:Slc9a2	UTSW	1	40,743,857 (GRCm38)	missense	possibly damaging	0.93
R1386:Slc9a2	UTSW	1	40,719,018 (GRCm38)	missense	probably damaging	1.00
R1485:Slc9a2	UTSW	1	40,726,388 (GRCm38)	missense	probably damaging	1.00
R1712:Slc9a2	UTSW	1	40,763,610 (GRCm38)	missense	possibly damaging	0.90
R1779:Slc9a2	UTSW	1	40,742,643 (GRCm38)	missense	probably damaging	0.99
R2051:Slc9a2	UTSW	1	40,726,437 (GRCm38)	missense	probably damaging	1.00
R2166:Slc9a2	UTSW	1	40,742,768 (GRCm38)	missense	probably damaging	1.00
R2513:Slc9a2	UTSW	1	40,742,608 (GRCm38)	splice site	probably null
R3612:Slc9a2	UTSW	1	40,719,058 (GRCm38)	splice site	probably null
R4631:Slc9a2	UTSW	1	40,761,918 (GRCm38)	missense	possibly damaging	0.66
R4760:Slc9a2	UTSW	1	40,761,916 (GRCm38)	missense	probably damaging	1.00
R4768:Slc9a2	UTSW	1	40,726,374 (GRCm38)	missense	probably damaging	1.00
R4769:Slc9a2	UTSW	1	40,726,374 (GRCm38)	missense	probably damaging	1.00
R4815:Slc9a2	UTSW	1	40,718,849 (GRCm38)	missense	probably benign	0.00
R4920:Slc9a2	UTSW	1	40,755,718 (GRCm38)	missense	probably benign	0.05
R5191:Slc9a2	UTSW	1	40,743,893 (GRCm38)	missense	probably damaging	1.00
R5963:Slc9a2	UTSW	1	40,682,036 (GRCm38)	missense	possibly damaging	0.94
R6322:Slc9a2	UTSW	1	40,742,653 (GRCm38)	nonsense	probably null
R6453:Slc9a2	UTSW	1	40,742,621 (GRCm38)	missense	possibly damaging	0.64
R6685:Slc9a2	UTSW	1	40,718,909 (GRCm38)	missense	probably damaging	0.99
R7088:Slc9a2	UTSW	1	40,726,379 (GRCm38)	missense	probably damaging	1.00
R7302:Slc9a2	UTSW	1	40,767,668 (GRCm38)	missense	possibly damaging	0.58
R7450:Slc9a2	UTSW	1	40,681,835 (GRCm38)	start gained	probably benign
R7670:Slc9a2	UTSW	1	40,718,997 (GRCm38)	missense	probably damaging	1.00
R7970:Slc9a2	UTSW	1	40,726,214 (GRCm38)	missense	probably damaging	0.98
R8104:Slc9a2	UTSW	1	40,718,649 (GRCm38)	missense	probably damaging	1.00
R8776:Slc9a2	UTSW	1	40,742,729 (GRCm38)	missense	probably damaging	1.00
R8776-TAIL:Slc9a2	UTSW	1	40,742,729 (GRCm38)	missense	probably damaging	1.00
R8887:Slc9a2	UTSW	1	40,718,849 (GRCm38)	missense	probably benign	0.01
R9028:Slc9a2	UTSW	1	40,726,452 (GRCm38)	missense	probably damaging	1.00
R9189:Slc9a2	UTSW	1	40,755,784 (GRCm38)	missense	probably benign	0.21
R9245:Slc9a2	UTSW	1	40,766,300 (GRCm38)	missense	probably benign	0.27
R9250:Slc9a2	UTSW	1	40,767,827 (GRCm38)	missense	probably benign	0.00
R9400:Slc9a2	UTSW	1	40,719,051 (GRCm38)	missense	possibly damaging	0.65
R9512:Slc9a2	UTSW	1	40,682,098 (GRCm38)	missense	probably damaging	0.98
R9583:Slc9a2	UTSW	1	40,681,901 (GRCm38)	missense	probably benign
X0054:Slc9a2	UTSW	1	40,742,687 (GRCm38)	missense	probably damaging	0.99
Z1176:Slc9a2	UTSW	1	40,767,711 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-11-11