Mutagenetix > Incidental Mutation

Incidental Mutation 'R9189:Slc9a2'

697560

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

068951-MU

Accession Numbers

Essential gene?

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

Stock #

R9189 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40680574-40769273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40755784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 502 (E502K)

Ref Sequence

ENSEMBL: ENSMUSP00000027231 (fasta)

Gene Model

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

AlphaFold

Q3ZAS0

Predicted Effect

probably benign
Transcript: ENSMUST00000027231
AA Change: E502K

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: E502K

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: 99.4%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	T	A	11: 116,174,405 (GRCm38)	D608V	probably damaging	Het
Actg1	A	T	11: 120,348,187 (GRCm38)	C26S	unknown	Het
Ahnak	T	A	19: 9,010,883 (GRCm38)	V3177E	possibly damaging	Het
Akap11	G	A	14: 78,513,498 (GRCm38)	T483I		Het
Akr1cl	A	G	1: 65,024,671 (GRCm38)	S120P	probably benign	Het
Ankle2	G	A	5: 110,252,744 (GRCm38)	V649M	possibly damaging	Het
Ankrd55	A	T	13: 112,368,036 (GRCm38)	I439F	probably damaging	Het
Asb8	A	G	15: 98,142,754 (GRCm38)	M9T	possibly damaging	Het
Ascc1	A	T	10: 60,007,823 (GRCm38)	Y69F	probably benign	Het
Atp9a	A	T	2: 168,676,140 (GRCm38)		probably null	Het
Cd8b1	T	C	6: 71,329,768 (GRCm38)	F160L	probably benign	Het
Cdh23	G	A	10: 60,307,527 (GRCm38)	A3005V	possibly damaging	Het
Cep250	A	G	2: 155,976,430 (GRCm38)	T842A	probably benign	Het
Cgnl1	T	A	9: 71,723,565 (GRCm38)	K552*	probably null	Het
Cntnap4	C	T	8: 112,875,968 (GRCm38)	T1227M	possibly damaging	Het
Cobll1	C	A	2: 65,150,989 (GRCm38)	V86F	probably damaging	Het
Dchs2	A	G	3: 83,348,254 (GRCm38)	N2419S	probably damaging	Het
Dhx30	A	T	9: 110,085,426 (GRCm38)	L1001*	probably null	Het
Diaph1	C	T	18: 37,891,109 (GRCm38)	V559M	unknown	Het
Dis3l	A	T	9: 64,310,449 (GRCm38)	H783Q	probably benign	Het
Dock7	T	G	4: 98,989,113 (GRCm38)	T1063P	unknown	Het
Dsc1	T	C	18: 20,099,157 (GRCm38)	T265A	possibly damaging	Het
Eif2ak4	A	T	2: 118,427,912 (GRCm38)	Q581L	probably damaging	Het
Eprs	A	T	1: 185,374,137 (GRCm38)	D183V	possibly damaging	Het
Fads2	G	C	19: 10,091,819 (GRCm38)	D80E	probably benign	Het
Fam167b	G	A	4: 129,577,082 (GRCm38)	R158C	probably damaging	Het
Fam71a	G	A	1: 191,162,703 (GRCm38)	T581I	possibly damaging	Het
Flnb	T	A	14: 7,892,976 (GRCm38)	I682K	possibly damaging	Het
Gpatch2l	C	T	12: 86,244,378 (GRCm38)	P112S	probably benign	Het
Gpn1	T	A	5: 31,497,366 (GRCm38)	H87Q	unknown	Het
Greb1l	T	C	18: 10,499,983 (GRCm38)	V350A	probably benign	Het
Grm5	A	T	7: 88,074,816 (GRCm38)	K771N	probably damaging	Het
Gucy2c	C	T	6: 136,751,047 (GRCm38)	S319N	probably benign	Het
Hcfc2	G	T	10: 82,699,207 (GRCm38)	A22S	probably benign	Het
Hist1h2bg	A	G	13: 23,571,587 (GRCm38)	D52G	probably damaging	Het
Hnf4a	A	G	2: 163,551,577 (GRCm38)	D39G	probably benign	Het
Il6st	C	T	13: 112,498,806 (GRCm38)	T584M	probably damaging	Het
Irf3	T	A	7: 45,000,822 (GRCm38)	V254E	possibly damaging	Het
Iws1	G	A	18: 32,080,160 (GRCm38)	E214K	possibly damaging	Het
Kank4	T	A	4: 98,780,052 (GRCm38)	K53*	probably null	Het
Kcnj11	A	T	7: 46,098,752 (GRCm38)	F382L	possibly damaging	Het
Kcnq3	T	C	15: 65,995,661 (GRCm38)	Y711C	probably damaging	Het
Kctd3	A	G	1: 188,972,439 (GRCm38)	S712P	possibly damaging	Het
Krt20	A	G	11: 99,432,261 (GRCm38)	I245T	possibly damaging	Het
Larp1b	T	C	3: 40,970,604 (GRCm38)	I219T	probably damaging	Het
Lman2l	A	G	1: 36,439,690 (GRCm38)	F114L	probably damaging	Het
Loxl2	T	A	14: 69,692,410 (GRCm38)	Y746N	possibly damaging	Het
Lrrc43	T	C	5: 123,508,046 (GRCm38)	S628P	probably benign	Het
Mroh8	A	C	2: 157,269,625 (GRCm38)	D136E	probably damaging	Het
Nek8	T	A	11: 78,172,516 (GRCm38)	M141L	probably benign	Het
Nr2e1	C	A	10: 42,578,272 (GRCm38)	R22L	probably damaging	Het
Nr6a1	C	T	2: 38,926,117 (GRCm38)		probably null	Het
Olfr1164	A	G	2: 88,093,850 (GRCm38)	F29L	probably damaging	Het
Olfr1167	T	C	2: 88,149,564 (GRCm38)	M152V	probably benign	Het
Olfr1377	T	A	11: 50,985,339 (GRCm38)	C213S	probably damaging	Het
Olfr3	T	A	2: 36,812,202 (GRCm38)	M297L	possibly damaging	Het
Onecut2	A	G	18: 64,340,819 (GRCm38)	Y147C	probably damaging	Het
Pcdhac2	T	C	18: 37,144,263 (GRCm38)	F99L	probably benign	Het
Pcdhga2	T	G	18: 37,669,742 (GRCm38)	V213G	possibly damaging	Het
Pgap1	A	T	1: 54,480,749 (GRCm38)	V909E	probably benign	Het
Pik3r4	A	T	9: 105,669,839 (GRCm38)	T939S	probably benign	Het
Pip4k2c	T	C	10: 127,199,377 (GRCm38)	D374G	possibly damaging	Het
Plxdc1	A	T	11: 97,953,962 (GRCm38)	D252E	probably benign	Het
Pm20d1	A	C	1: 131,802,377 (GRCm38)	D218A	probably damaging	Het
Polq	C	A	16: 37,044,903 (GRCm38)	Q706K	probably damaging	Het
Pram1	A	T	17: 33,641,157 (GRCm38)	I233F	probably benign	Het
Prr27	C	A	5: 87,843,135 (GRCm38)	P202Q	probably benign	Het
Prss41	A	T	17: 23,842,387 (GRCm38)	H143Q	probably damaging	Het
Ptpn21	A	G	12: 98,689,002 (GRCm38)	Y569H	probably damaging	Het
Rad17	T	C	13: 100,637,056 (GRCm38)	K142E	probably damaging	Het
Rcan3	T	C	4: 135,425,296 (GRCm38)	E38G	probably benign	Het
Rgl3	C	A	9: 21,974,060 (GRCm38)	R658L	possibly damaging	Het
Rnf125	T	A	18: 20,983,183 (GRCm38)	*141K	probably null	Het
Ros1	G	T	10: 52,143,406 (GRCm38)	N711K	probably damaging	Het
Rsph10b	T	A	5: 143,959,686 (GRCm38)	Y421N	probably benign	Het
Ryr1	C	T	7: 29,077,046 (GRCm38)	V2222I	probably damaging	Het
Samsn1	C	T	16: 75,859,561 (GRCm38)	C333Y	probably damaging	Het
Stard9	A	T	2: 120,703,019 (GRCm38)	E3252D	possibly damaging	Het
Syne1	C	A	10: 5,173,008 (GRCm38)	R309S	probably damaging	Het
Syne1	T	C	10: 5,222,289 (GRCm38)	I5051V	probably benign	Het
Syngap1	A	G	17: 26,964,974 (GRCm38)	S1241G	probably damaging	Het
Tbpl2	T	C	2: 24,076,018 (GRCm38)	K321R	probably damaging	Het
Tnrc18	C	T	5: 142,731,352 (GRCm38)	G2449E	probably damaging	Het
Trim25	A	G	11: 89,010,905 (GRCm38)	D342G	probably benign	Het
Tssk4	T	A	14: 55,650,447 (GRCm38)	H33Q	probably benign	Het
Ttc3	G	A	16: 94,467,972 (GRCm38)	G1971D	possibly damaging	Het
Tufm	C	T	7: 126,489,677 (GRCm38)	Q347*	probably null	Het
Ubxn10	G	A	4: 138,720,822 (GRCm38)	S181F	possibly damaging	Het
Ushbp1	T	C	8: 71,388,895 (GRCm38)	E430G	probably benign	Het
Vmn1r33	T	C	6: 66,611,732 (GRCm38)	I279M	possibly damaging	Het
Vmn2r115	T	C	17: 23,345,810 (GRCm38)	F224L	probably damaging	Het
Vmn2r23	A	T	6: 123,704,364 (GRCm38)	H77L	probably benign	Het
Vps13a	T	C	19: 16,686,597 (GRCm38)	I1481V	probably benign	Het
Vps35	T	C	8: 85,281,269 (GRCm38)	N294S	possibly damaging	Het
Washc3	A	T	10: 88,216,054 (GRCm38)	T102S	probably benign	Het
Zfp27	T	A	7: 29,895,934 (GRCm38)	E202V	possibly damaging	Het
Zfp58	T	C	13: 67,491,916 (GRCm38)	H152R	possibly damaging	Het
Zfr2	T	C	10: 81,244,662 (GRCm38)	V390A	probably damaging	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
IGL01445:Slc9a2	APN	1	40,718,810 (GRCm38)	missense	possibly damaging	0.51
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCTTAGCAACAGTCTAGCTTTC -3'
(R):5'- GGACTTTAGCTGGCTTGGAC -3'

Sequencing Primer
(F):5'- AGCAACAGTCTAGCTTTCGTTGG -3'
(R):5'- CATGGAGTTATGAAGAGTCTGCCTCC -3'

Posted On

2022-02-07