Mutagenetix > Incidental Mutation

Incidental Mutation 'R7450:Slc9a2'

577612

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40720872-40808045 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 40720995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142144 (fasta)

Gene Model

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

AlphaFold

Q3ZAS0

Predicted Effect

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000192345

SMART Domains

Protein: ENSMUSP00000142144
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	336	2.5e-56	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,331,977 (GRCm39)	R746W	possibly damaging	Het
Abcc2	T	C	19: 43,810,478 (GRCm39)	L925P	probably damaging	Het
Abcc3	A	T	11: 94,252,521 (GRCm39)	H787Q	probably damaging	Het
Acly	A	T	11: 100,370,101 (GRCm39)	V987E	probably damaging	Het
Afg2a	T	C	3: 37,510,934 (GRCm39)	L697S	probably damaging	Het
Cacna1b	A	T	2: 24,525,147 (GRCm39)	Y1676*	probably null	Het
Ccdc168	A	G	1: 44,097,933 (GRCm39)	V1055A	probably benign	Het
Ccdc175	T	A	12: 72,202,447 (GRCm39)	I283F	possibly damaging	Het
Cfap46	A	T	7: 139,197,353 (GRCm39)	F2173I	unknown	Het
Cln6	G	A	9: 62,757,912 (GRCm39)	E224K	probably damaging	Het
Cyp1a1	T	A	9: 57,609,415 (GRCm39)	L372Q	probably damaging	Het
Dnah8	T	A	17: 31,006,165 (GRCm39)	I3694N	probably damaging	Het
Dnal1	T	C	12: 84,171,297 (GRCm39)	Y31H	probably benign	Het
Eid3	T	A	10: 82,702,737 (GRCm39)	M66K	probably benign	Het
Epo	T	A	5: 137,481,497 (GRCm39)	E143D	probably damaging	Het
Fbxo25	C	A	8: 13,981,235 (GRCm39)	N236K	probably benign	Het
Fsip2	A	G	2: 82,782,024 (GRCm39)	I266V	probably benign	Het
Galnt6	T	C	15: 100,595,696 (GRCm39)	Y444C	probably damaging	Het
Gna11	T	C	10: 81,368,356 (GRCm39)	Y160C		Het
Hectd4	A	T	5: 121,419,995 (GRCm39)	T647S	probably benign	Het
Hgd	T	C	16: 37,444,686 (GRCm39)	V316A	possibly damaging	Het
Idh3a	T	C	9: 54,503,367 (GRCm39)	V142A	probably damaging	Het
Il3ra	T	A	14: 14,351,090 (GRCm38)	I297N	probably benign	Het
Kcnj5	T	G	9: 32,233,491 (GRCm39)	I275L	possibly damaging	Het
Kdm7a	A	T	6: 39,120,185 (GRCm39)	L928Q	probably damaging	Het
Kmo	A	G	1: 175,466,666 (GRCm39)	I75V	probably benign	Het
Krtap1-3	C	A	11: 99,481,697 (GRCm39)	C150F	unknown	Het
Lingo3	C	A	10: 80,670,671 (GRCm39)	E420*	probably null	Het
Lrrc37a	A	G	11: 103,389,152 (GRCm39)	V2091A	probably benign	Het
N4bp2	T	A	5: 65,982,643 (GRCm39)	Y1632*	probably null	Het
Nlrp1a	C	A	11: 70,998,484 (GRCm39)	G905V	probably damaging	Het
Nlrp9c	T	A	7: 26,064,364 (GRCm39)	E988V	probably benign	Het
Nol8	T	G	13: 49,813,491 (GRCm39)	H179Q	probably benign	Het
Notch3	G	A	17: 32,360,365 (GRCm39)	P1522L	possibly damaging	Het
Nup210l	T	C	3: 90,022,495 (GRCm39)		probably null	Het
Oas1b	T	A	5: 120,959,321 (GRCm39)	Y234*	probably null	Het
Or10al7	T	C	17: 38,366,000 (GRCm39)	I152M	probably benign	Het
Or12d17	C	A	17: 37,777,507 (GRCm39)	Q137K	probably benign	Het
Or12e14	A	C	2: 87,676,803 (GRCm39)	K63Q	probably damaging	Het
Or13c9	T	A	4: 52,936,113 (GRCm39)	K57*	probably null	Het
Or6c1b	A	C	10: 129,273,298 (GRCm39)	M206L	probably benign	Het
Pag1	T	C	3: 9,764,599 (GRCm39)	T185A	probably damaging	Het
Palmd	A	T	3: 116,721,292 (GRCm39)	S100T	probably damaging	Het
Papln	C	A	12: 83,826,945 (GRCm39)	A690E	probably benign	Het
Pcdhga7	C	T	18: 37,849,079 (GRCm39)	T362M	probably benign	Het
Pmpcb	T	A	5: 21,951,983 (GRCm39)	V286E	possibly damaging	Het
Pon3	T	C	6: 5,236,940 (GRCm39)	I142M	possibly damaging	Het
Prdx6	A	G	1: 161,069,386 (GRCm39)	S194P	probably benign	Het
Rapgef2	T	C	3: 79,080,366 (GRCm39)	E112G	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rps6kb1	T	A	11: 86,393,657 (GRCm39)	E491V	probably benign	Het
Sema3d	C	T	5: 12,634,901 (GRCm39)	Q656*	probably null	Het
Shisa6	A	T	11: 66,108,832 (GRCm39)	D348E	probably benign	Het
Slc16a7	G	T	10: 125,063,920 (GRCm39)	H472Q	probably benign	Het
Slc49a4	T	C	16: 35,589,344 (GRCm39)	I90V	possibly damaging	Het
Smad4	A	G	18: 73,810,924 (GRCm39)	V20A	probably damaging	Het
Sstr3	G	A	15: 78,424,043 (GRCm39)	R235W	probably damaging	Het
Svep1	T	A	4: 58,064,248 (GRCm39)	H3245L	possibly damaging	Het
Tra2a	G	A	6: 49,227,919 (GRCm39)	R70*	probably null	Het
Trav7-4	G	T	14: 53,698,924 (GRCm39)	V24L	probably benign	Het
Tsc2	C	A	17: 24,819,005 (GRCm39)	S1278I	probably damaging	Het
Ubtf	A	G	11: 102,197,475 (GRCm39)	S726P	unknown	Het
Vmn2r42	A	T	7: 8,187,220 (GRCm39)	Y851N	probably benign	Het
Wwp1	A	G	4: 19,640,016 (GRCm39)	Y509H	probably damaging	Het
Xirp2	A	C	2: 67,340,159 (GRCm39)	Q800P	possibly damaging	Het
Zc3h7b	T	C	15: 81,667,281 (GRCm39)	F609L	probably benign	Het
Zdhhc8	G	T	16: 18,043,035 (GRCm39)	H388Q	probably benign	Het
Zfp1004	A	G	2: 150,035,046 (GRCm39)	T456A	probably benign	Het
Zfp644	T	C	5: 106,786,392 (GRCm39)	K52E	probably benign	Het
Zfp82	T	G	7: 29,756,320 (GRCm39)	E254A	probably damaging	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
R2513:Slc9a2	UTSW	1	40,781,768 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- AAGAACAGCGGCTCTTGGTC -3'
(R):5'- TAATCCAGGGTGAACACGGG -3'

Sequencing Primer
(F):5'- CTGTAGCTGCCAGGCATG -3'
(R):5'- ACCACACTGGCAGGACTTG -3'

Posted On

2019-10-07