Mutagenetix > Incidental Mutation

Incidental Mutation 'R2513:Slc9a2'

253530

Institutional Source

Beutler Lab

Gene Symbol

Slc9a2

Ensembl Gene

ENSMUSG00000026062

Gene Name

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

Synonyms

2210416H12Rik, NHE2, 4932415O19Rik

MMRRC Submission

040419-MU

Accession Numbers

Essential gene?

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

Stock #

R2513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40720872-40808045 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 40781768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027231 (fasta)

Gene Model

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

AlphaFold

Q3ZAS0

Predicted Effect

probably null
Transcript: ENSMUST00000027231

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,383,809 (GRCm39)	T719A	possibly damaging	Het
Abcc1	A	G	16: 14,290,873 (GRCm39)		probably null	Het
Aftph	C	T	11: 20,658,676 (GRCm39)		probably null	Het
Als2	C	A	1: 59,254,276 (GRCm39)	K360N	probably benign	Het
Atg2a	T	A	19: 6,308,076 (GRCm39)		probably null	Het
Axl	T	C	7: 25,486,941 (GRCm39)	D22G	probably benign	Het
Baiap2	G	A	11: 119,890,052 (GRCm39)	A438T	probably benign	Het
Bean1	G	C	8: 104,908,643 (GRCm39)	A7P	probably benign	Het
Birc6	C	G	17: 74,954,724 (GRCm39)	P3431R	probably damaging	Het
Camk1d	A	G	2: 5,719,047 (GRCm39)	M1T	probably null	Het
Carmil3	T	C	14: 55,741,295 (GRCm39)	Y1027H	probably damaging	Het
Ccdc6	G	A	10: 70,023,658 (GRCm39)		probably benign	Het
Cemip	C	A	7: 83,591,233 (GRCm39)	V1280L	probably benign	Het
Cfap58	C	A	19: 47,950,981 (GRCm39)	N447K	probably benign	Het
Chd3	A	G	11: 69,251,471 (GRCm39)	L520P	probably damaging	Het
Col1a2	T	A	6: 4,531,223 (GRCm39)		probably null	Het
Cpne7	A	C	8: 123,844,406 (GRCm39)		probably null	Het
Ctla4	T	C	1: 60,951,723 (GRCm39)	V84A	probably damaging	Het
Dap3	A	G	3: 88,835,565 (GRCm39)	V263A	probably benign	Het
Dhx57	T	A	17: 80,549,378 (GRCm39)		probably null	Het
Dlg5	C	A	14: 24,214,593 (GRCm39)	K663N	probably damaging	Het
Dsg3	C	A	18: 20,656,719 (GRCm39)	F196L	possibly damaging	Het
Eif2ak4	C	A	2: 118,257,064 (GRCm39)	D402E	probably damaging	Het
Fance	T	C	17: 28,537,068 (GRCm39)	V24A	probably benign	Het
Fasn	A	T	11: 120,705,574 (GRCm39)	L1149Q	probably damaging	Het
Fcgbpl1	C	G	7: 27,831,060 (GRCm39)	S91C	probably damaging	Het
Flg	T	A	3: 93,187,093 (GRCm39)	S182T	possibly damaging	Het
Gm128	T	A	3: 95,147,293 (GRCm39)	S334C	possibly damaging	Het
Gm3727	A	C	14: 7,264,561 (GRCm38)	H31Q	probably damaging	Het
Gm4841	T	G	18: 60,403,977 (GRCm39)	T39P	probably damaging	Het
Golgb1	G	T	16: 36,735,513 (GRCm39)	V1587L	possibly damaging	Het
Golm1	G	A	13: 59,790,072 (GRCm39)	P243S	probably benign	Het
Gstcd	C	A	3: 132,788,081 (GRCm39)	A206S	possibly damaging	Het
Gstcd	C	A	3: 132,788,082 (GRCm39)	K205N	possibly damaging	Het
Gtf3c1	A	G	7: 125,280,345 (GRCm39)	V355A	probably benign	Het
Hhatl	T	C	9: 121,618,236 (GRCm39)	D173G	probably benign	Het
Kcnu1	T	A	8: 26,395,994 (GRCm39)	C660S	probably benign	Het
Kctd8	T	C	5: 69,267,988 (GRCm39)	D374G	probably benign	Het
Kif21a	T	C	15: 90,878,594 (GRCm39)	I229V	possibly damaging	Het
L3mbtl1	A	T	2: 162,809,505 (GRCm39)	I702F	probably benign	Het
Lce1d	T	C	3: 92,593,066 (GRCm39)		probably benign	Het
Lrig1	C	T	6: 94,594,347 (GRCm39)		probably null	Het
Lrp12	A	T	15: 39,739,507 (GRCm39)	D563E	probably damaging	Het
Lrp2	C	T	2: 69,336,718 (GRCm39)		probably null	Het
Map3k5	G	A	10: 19,970,201 (GRCm39)	V703I	possibly damaging	Het
Mecr	A	G	4: 131,581,076 (GRCm39)	R110G	probably benign	Het
Mtrr	T	A	13: 68,715,092 (GRCm39)	K445*	probably null	Het
Nanos1	T	A	19: 60,744,990 (GRCm39)	L96Q	probably benign	Het
Or13a24	T	G	7: 140,154,069 (GRCm39)	M1R	probably null	Het
Or51t4	T	A	7: 102,598,700 (GRCm39)	F333I	probably benign	Het
Or6c214	T	A	10: 129,591,021 (GRCm39)	L99F	probably damaging	Het
Otog	T	C	7: 45,955,014 (GRCm39)		probably null	Het
Pcdhb3	G	T	18: 37,434,294 (GRCm39)	V87F	probably benign	Het
Pcdhb3	T	A	18: 37,434,292 (GRCm39)	L86*	probably null	Het
Pcdhb3	A	T	18: 37,434,293 (GRCm39)	L86F	probably damaging	Het
Pdgfd	A	G	9: 6,359,894 (GRCm39)	K322E	probably damaging	Het
Picalm	T	C	7: 89,846,217 (GRCm39)	S648P	probably damaging	Het
Pigr	T	C	1: 130,774,357 (GRCm39)	S446P	possibly damaging	Het
Pik3cb	A	C	9: 98,943,895 (GRCm39)	L636W	probably damaging	Het
Pla2g2f	A	T	4: 138,481,473 (GRCm39)	L92Q	probably damaging	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prkar2b	C	T	12: 32,025,928 (GRCm39)	V191I	possibly damaging	Het
Prune1	C	A	3: 95,165,430 (GRCm39)	A281S	probably benign	Het
Ptges3l	A	T	11: 101,314,868 (GRCm39)	C42S	possibly damaging	Het
Reg3b	A	T	6: 78,348,802 (GRCm39)	I33L	probably benign	Het
Rel	A	G	11: 23,695,823 (GRCm39)	I188T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor1	G	T	8: 106,344,254 (GRCm39)	V463L	probably benign	Het
Rrm1	T	A	7: 102,109,896 (GRCm39)	D510E	probably damaging	Het
Setd7	A	G	3: 51,440,436 (GRCm39)	S202P	probably damaging	Het
Shank3	T	A	15: 89,432,889 (GRCm39)	D1211E	probably benign	Het
Slc30a1	A	T	1: 191,639,674 (GRCm39)	T186S	possibly damaging	Het
Slc4a4	G	A	5: 89,304,257 (GRCm39)	V523I	probably benign	Het
Smg6	A	G	11: 74,820,502 (GRCm39)	T258A	probably damaging	Het
Sptlc1	C	T	13: 53,491,676 (GRCm39)	D408N	possibly damaging	Het
Tasor2	G	T	13: 3,632,150 (GRCm39)	L784I	possibly damaging	Het
Tbl3	T	C	17: 24,923,524 (GRCm39)		probably null	Het
Tdo2	T	C	3: 81,876,812 (GRCm39)	D139G	possibly damaging	Het
Ticam1	T	A	17: 56,578,612 (GRCm39)	H161L	possibly damaging	Het
Tnfaip3	T	A	10: 18,881,407 (GRCm39)	D293V	probably benign	Het
Trim72	G	A	7: 127,603,878 (GRCm39)	V75M	possibly damaging	Het
Trip11	T	A	12: 101,803,986 (GRCm39)	N1632I	possibly damaging	Het
Tspan18	A	T	2: 93,050,440 (GRCm39)	M61K	possibly damaging	Het
Tuba8	A	T	6: 121,202,932 (GRCm39)	E415V	probably damaging	Het
Ung	A	G	5: 114,275,253 (GRCm39)	H214R	probably benign	Het
Uqcrc1	T	C	9: 108,765,836 (GRCm39)	L17P	probably damaging	Het
Usp24	A	G	4: 106,236,602 (GRCm39)		probably null	Het
Vps39	A	C	2: 120,169,268 (GRCm39)	Y245D	probably damaging	Het
Whrn	T	A	4: 63,353,649 (GRCm39)	T373S	probably benign	Het
Zc2hc1a	C	T	3: 7,581,596 (GRCm39)		probably null	Het

Other mutations in Slc9a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Slc9a2	APN	1	40,806,897 (GRCm39)	missense	probably benign
IGL00487:Slc9a2	APN	1	40,781,818 (GRCm39)	missense	probably damaging	0.99
IGL00500:Slc9a2	APN	1	40,802,743 (GRCm39)	missense	possibly damaging	0.95
IGL01445:Slc9a2	APN	1	40,757,970 (GRCm39)	missense	possibly damaging	0.51
IGL02060:Slc9a2	APN	1	40,795,453 (GRCm39)	missense	probably damaging	0.99
IGL02813:Slc9a2	APN	1	40,781,829 (GRCm39)	missense	probably damaging	1.00
IGL02894:Slc9a2	APN	1	40,802,762 (GRCm39)	missense	probably benign	0.20
IGL02939:Slc9a2	APN	1	40,781,863 (GRCm39)	missense	probably damaging	1.00
IGL03193:Slc9a2	APN	1	40,795,431 (GRCm39)	missense	probably benign	0.00
putty	UTSW	1	40,781,813 (GRCm39)	nonsense	probably null
E0370:Slc9a2	UTSW	1	40,802,701 (GRCm39)	critical splice acceptor site	probably null
PIT4377001:Slc9a2	UTSW	1	40,783,001 (GRCm39)	missense	probably damaging	1.00
R0009:Slc9a2	UTSW	1	40,802,762 (GRCm39)	missense	probably benign	0.38
R0009:Slc9a2	UTSW	1	40,802,762 (GRCm39)	missense	probably benign	0.38
R0152:Slc9a2	UTSW	1	40,781,964 (GRCm39)	missense	probably damaging	1.00
R0374:Slc9a2	UTSW	1	40,783,017 (GRCm39)	missense	possibly damaging	0.93
R1386:Slc9a2	UTSW	1	40,758,178 (GRCm39)	missense	probably damaging	1.00
R1485:Slc9a2	UTSW	1	40,765,548 (GRCm39)	missense	probably damaging	1.00
R1712:Slc9a2	UTSW	1	40,802,770 (GRCm39)	missense	possibly damaging	0.90
R1779:Slc9a2	UTSW	1	40,781,803 (GRCm39)	missense	probably damaging	0.99
R2051:Slc9a2	UTSW	1	40,765,597 (GRCm39)	missense	probably damaging	1.00
R2166:Slc9a2	UTSW	1	40,781,928 (GRCm39)	missense	probably damaging	1.00
R3612:Slc9a2	UTSW	1	40,758,218 (GRCm39)	splice site	probably null
R4631:Slc9a2	UTSW	1	40,801,078 (GRCm39)	missense	possibly damaging	0.66
R4760:Slc9a2	UTSW	1	40,801,076 (GRCm39)	missense	probably damaging	1.00
R4768:Slc9a2	UTSW	1	40,765,534 (GRCm39)	missense	probably damaging	1.00
R4769:Slc9a2	UTSW	1	40,765,534 (GRCm39)	missense	probably damaging	1.00
R4815:Slc9a2	UTSW	1	40,758,009 (GRCm39)	missense	probably benign	0.00
R4920:Slc9a2	UTSW	1	40,794,878 (GRCm39)	missense	probably benign	0.05
R5191:Slc9a2	UTSW	1	40,783,053 (GRCm39)	missense	probably damaging	1.00
R5963:Slc9a2	UTSW	1	40,721,196 (GRCm39)	missense	possibly damaging	0.94
R6322:Slc9a2	UTSW	1	40,781,813 (GRCm39)	nonsense	probably null
R6453:Slc9a2	UTSW	1	40,781,781 (GRCm39)	missense	possibly damaging	0.64
R6685:Slc9a2	UTSW	1	40,758,069 (GRCm39)	missense	probably damaging	0.99
R7088:Slc9a2	UTSW	1	40,765,539 (GRCm39)	missense	probably damaging	1.00
R7302:Slc9a2	UTSW	1	40,806,828 (GRCm39)	missense	possibly damaging	0.58
R7450:Slc9a2	UTSW	1	40,720,995 (GRCm39)	start gained	probably benign
R7670:Slc9a2	UTSW	1	40,758,157 (GRCm39)	missense	probably damaging	1.00
R7970:Slc9a2	UTSW	1	40,765,374 (GRCm39)	missense	probably damaging	0.98
R8104:Slc9a2	UTSW	1	40,757,809 (GRCm39)	missense	probably damaging	1.00
R8776:Slc9a2	UTSW	1	40,781,889 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Slc9a2	UTSW	1	40,781,889 (GRCm39)	missense	probably damaging	1.00
R8887:Slc9a2	UTSW	1	40,758,009 (GRCm39)	missense	probably benign	0.01
R9028:Slc9a2	UTSW	1	40,765,612 (GRCm39)	missense	probably damaging	1.00
R9189:Slc9a2	UTSW	1	40,794,944 (GRCm39)	missense	probably benign	0.21
R9245:Slc9a2	UTSW	1	40,805,460 (GRCm39)	missense	probably benign	0.27
R9250:Slc9a2	UTSW	1	40,806,987 (GRCm39)	missense	probably benign	0.00
R9400:Slc9a2	UTSW	1	40,758,211 (GRCm39)	missense	possibly damaging	0.65
R9512:Slc9a2	UTSW	1	40,721,258 (GRCm39)	missense	probably damaging	0.98
R9583:Slc9a2	UTSW	1	40,721,061 (GRCm39)	missense	probably benign
X0054:Slc9a2	UTSW	1	40,781,847 (GRCm39)	missense	probably damaging	0.99
Z1176:Slc9a2	UTSW	1	40,806,871 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-12-04