Mutagenetix > Incidental Mutation

Incidental Mutation 'R1386:Slc9a2'

160546

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

039448-MU

Accession Numbers

Essential gene?

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

Stock #

R1386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40680574-40769273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40719018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 239 (L239Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027231 (fasta)

Gene Model

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

AlphaFold

Q3ZAS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027231
AA Change: L239Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: L239Q

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 damaging
Transcript: ENSMUST00000192345
AA Change: L239Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142144
Gene: ENSMUSG00000026062
AA Change: L239Q

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

1x: 98.8%
3x: 97.8%
10x: 94.5%
20x: 87.0%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,244,255 (GRCm38)	I235V	probably benign	Het
Acsm4	T	C	7: 119,698,578 (GRCm38)	I146T	probably benign	Het
Adgrv1	T	C	13: 81,528,865 (GRCm38)	N1949S	probably benign	Het
Afdn	T	C	17: 13,846,536 (GRCm38)	V630A	probably damaging	Het
Amfr	A	G	8: 93,985,399 (GRCm38)	V301A	possibly damaging	Het
Anapc16	T	C	10: 59,996,457 (GRCm38)	M45V	probably benign	Het
Ankrd12	T	C	17: 65,983,380 (GRCm38)	E1686G	possibly damaging	Het
Ap2m1	T	G	16: 20,541,229 (GRCm38)	H193Q	probably damaging	Het
Aplnr	T	C	2: 85,137,461 (GRCm38)	W277R	possibly damaging	Het
Aspm	C	T	1: 139,478,972 (GRCm38)	H1866Y	possibly damaging	Het
Aspm	A	G	1: 139,457,623 (GRCm38)	E335G	probably benign	Het
Atp8b4	T	A	2: 126,378,744 (GRCm38)	D578V	probably benign	Het
Ccr1	T	A	9: 123,963,962 (GRCm38)	E177V	probably benign	Het
Cecr2	A	G	6: 120,762,131 (GRCm38)	E1245G	probably damaging	Het
Cep162	A	T	9: 87,221,202 (GRCm38)	C638S	probably benign	Het
Ces1b	A	T	8: 93,068,077 (GRCm38)	I298N	probably benign	Het
Chdh	T	A	14: 30,031,434 (GRCm38)	L100Q	probably damaging	Het
Chrnd	T	C	1: 87,192,590 (GRCm38)	I156T	probably damaging	Het
Clpx	G	A	9: 65,326,888 (GRCm38)	R605Q	probably null	Het
Cnga1	T	A	5: 72,612,183 (GRCm38)	K135*	probably null	Het
Col6a4	A	T	9: 106,062,945 (GRCm38)	V1262E	probably benign	Het
Cracr2b	T	C	7: 141,463,568 (GRCm38)	L53P	probably damaging	Het
Crhr1	T	C	11: 104,174,394 (GRCm38)	S372P	possibly damaging	Het
Cyp11b2	T	A	15: 74,851,775 (GRCm38)		probably null	Het
Cyp21a1	T	A	17: 34,802,210 (GRCm38)	D373V	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524 (GRCm38)	T223S	unknown	Het
Ddah1	A	T	3: 145,889,211 (GRCm38)	Y242F	probably benign	Het
Dlgap3	A	G	4: 127,194,926 (GRCm38)	D105G	possibly damaging	Het
Dtl	A	G	1: 191,569,717 (GRCm38)	V76A	probably damaging	Het
Dzank1	A	G	2: 144,491,831 (GRCm38)	S361P	probably benign	Het
Ehd3	T	A	17: 73,820,543 (GRCm38)	I157N	probably damaging	Het
Elk4	T	C	1: 132,017,830 (GRCm38)	F149L	probably damaging	Het
Eme2	G	A	17: 24,892,918 (GRCm38)	S263F	probably damaging	Het
Fam83a	A	G	15: 57,986,503 (GRCm38)	R148G	probably damaging	Het
Farp2	C	A	1: 93,620,151 (GRCm38)		probably null	Het
Fbxw25	T	A	9: 109,654,641 (GRCm38)	I168F	possibly damaging	Het
Fermt1	T	C	2: 132,916,058 (GRCm38)	D479G	probably damaging	Het
Fgf17	C	A	14: 70,636,770 (GRCm38)	R193L	probably damaging	Het
Foxred2	T	G	15: 77,948,521 (GRCm38)		probably null	Het
Gad1	T	C	2: 70,574,123 (GRCm38)	V119A	possibly damaging	Het
Gas2l3	A	G	10: 89,414,353 (GRCm38)	V301A	possibly damaging	Het
Gimap8	G	A	6: 48,656,653 (GRCm38)	V469I	probably benign	Het
Gja1	A	T	10: 56,387,969 (GRCm38)	E141D	probably benign	Het
Glod4	C	T	11: 76,222,003 (GRCm38)	W268*	probably null	Het
Gm7173	C	T	X: 79,509,901 (GRCm38)	V323I	possibly damaging	Het
Guf1	C	T	5: 69,563,162 (GRCm38)	H309Y	probably benign	Het
Hax1	A	G	3: 89,995,849 (GRCm38)	V215A	probably damaging	Het
Heatr9	T	C	11: 83,518,825 (GRCm38)	D107G	probably benign	Het
Hephl1	T	A	9: 15,076,754 (GRCm38)	Y686F	probably benign	Het
Hk3	T	C	13: 55,007,030 (GRCm38)		probably null	Het
Ikbkb	G	T	8: 22,665,617 (GRCm38)	Q620K	possibly damaging	Het
Il18rap	C	T	1: 40,531,522 (GRCm38)	A208V	probably benign	Het
Kif26b	T	C	1: 178,915,644 (GRCm38)	S1102P	probably benign	Het
Kif5b	A	T	18: 6,226,383 (GRCm38)	D147E	probably damaging	Het
Klhl3	T	C	13: 58,030,433 (GRCm38)	T348A	probably damaging	Het
Krt10	T	C	11: 99,385,920 (GRCm38)		probably benign	Het
Lama3	A	T	18: 12,477,370 (GRCm38)	H1124L	probably benign	Het
Lin7a	A	T	10: 107,412,122 (GRCm38)	Q96L	unknown	Het
Ly6c2	T	G	15: 75,110,589 (GRCm38)	I37L	probably benign	Het
Mov10l1	A	G	15: 89,011,386 (GRCm38)	Y585C	possibly damaging	Het
Msr1	G	A	8: 39,589,293 (GRCm38)	Q414*	probably null	Het
Myh13	T	C	11: 67,370,950 (GRCm38)	C1900R	possibly damaging	Het
Obscn	T	A	11: 59,133,853 (GRCm38)	N454Y	probably damaging	Het
Olfml2b	T	G	1: 170,681,162 (GRCm38)	Y530D	probably damaging	Het
Olfr1057	A	G	2: 86,374,921 (GRCm38)	F164L	probably damaging	Het
Olfr1206	T	A	2: 88,865,353 (GRCm38)	F249L	probably benign	Het
Olfr1377	T	C	11: 50,985,367 (GRCm38)	F222S	probably damaging	Het
Olfr1449	A	T	19: 12,935,139 (GRCm38)	T134S	probably benign	Het
Olfr591	T	A	7: 103,173,367 (GRCm38)	H90L	probably benign	Het
Olfr868	T	A	9: 20,101,582 (GRCm38)	N274K	probably benign	Het
Pde10a	T	G	17: 8,953,742 (GRCm38)	V648G	probably damaging	Het
Pde7b	T	A	10: 20,418,801 (GRCm38)	H258L	probably damaging	Het
Pik3cb	A	G	9: 99,064,027 (GRCm38)	V582A	possibly damaging	Het
Plxnb1	T	C	9: 109,101,023 (GRCm38)	S316P	probably benign	Het
Pmpca	C	T	2: 26,392,518 (GRCm38)	T246I	probably damaging	Het
Reep3	A	T	10: 67,063,009 (GRCm38)	V32D	possibly damaging	Het
Rfx4	A	G	10: 84,863,285 (GRCm38)	M252V	probably damaging	Het
Rnf168	C	A	16: 32,298,963 (GRCm38)	D447E	probably damaging	Het
Rnf31	T	C	14: 55,596,764 (GRCm38)	V518A	probably damaging	Het
Rnpc3	A	T	3: 113,613,784 (GRCm38)	L340*	probably null	Het
Scn2a	A	G	2: 65,688,741 (GRCm38)	E437G	probably damaging	Het
Scnn1b	C	A	7: 121,902,488 (GRCm38)	N175K	possibly damaging	Het
Slc39a11	T	A	11: 113,247,724 (GRCm38)	I344F	probably benign	Het
Smg5	T	C	3: 88,355,671 (GRCm38)	F794L	probably damaging	Het
Smim13	C	T	13: 41,272,692 (GRCm38)	S68L	possibly damaging	Het
Sos2	A	T	12: 69,614,658 (GRCm38)	Y680N	probably damaging	Het
Spag6	T	A	2: 18,734,246 (GRCm38)	M329K	possibly damaging	Het
Spire2	G	A	8: 123,361,366 (GRCm38)		probably null	Het
Tdrd9	T	A	12: 112,044,804 (GRCm38)	V1149D	probably benign	Het
Tns3	T	A	11: 8,518,261 (GRCm38)	Y321F	probably benign	Het
Top3b	T	C	16: 16,880,629 (GRCm38)	V112A	probably benign	Het
Trafd1	G	A	5: 121,379,652 (GRCm38)	T26I	probably damaging	Het
Ttc28	G	A	5: 111,225,677 (GRCm38)	S962N	probably damaging	Het
Vmn2r78	T	C	7: 86,915,407 (GRCm38)	L20S	unknown	Het
Vmn2r82	A	T	10: 79,378,711 (GRCm38)	D176V	probably damaging	Het
Vps13b	T	C	15: 35,923,312 (GRCm38)	F3778L	probably damaging	Het
Vwa3b	T	C	1: 37,051,881 (GRCm38)		probably null	Het
Vwc2	C	T	11: 11,154,262 (GRCm38)	P265S	probably damaging	Het
Zbtb9	T	A	17: 26,974,638 (GRCm38)	I339N	probably damaging	Het
Zfp335	T	C	2: 164,898,241 (GRCm38)	T764A	probably benign	Het
Zfp366	T	A	13: 99,246,555 (GRCm38)	V742D	probably damaging	Het
Zfp709	A	T	8: 71,890,662 (GRCm38)	Y645F	probably damaging	Het
Zmym2	T	A	14: 56,913,091 (GRCm38)	C424S	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
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

Predicted Primers

PCR Primer
(F):5'- GCCTTCTCATAATGGTCGGGCTTC -3'
(R):5'- AGCTCTGTGAGCTACTCCAGCAAG -3'

Sequencing Primer
(F):5'- GTGTTGATGAGAAGTCTCCCCC -3'
(R):5'- CTACTCCAGCAAGGAGAAGGTG -3'

Posted On

2014-03-14