Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Slc9a2'

686845

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

068857-MU

Accession Numbers

Essential gene?

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

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40720872-40808045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40765612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 334 (I334N)

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: I334N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: I334N

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: I334N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142144
Gene: ENSMUSG00000026062
AA Change: I334N

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

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,023,977 (GRCm39)	V1066A	probably damaging	Het
Abca5	T	A	11: 110,188,904 (GRCm39)	H851L	probably damaging	Het
Actn2	T	C	13: 12,315,864 (GRCm39)	I218M	possibly damaging	Het
Afmid	G	A	11: 117,727,489 (GRCm39)	E338K	probably benign	Het
Amer3	G	A	1: 34,627,758 (GRCm39)	V666I	probably benign	Het
Apol7b	A	G	15: 77,307,616 (GRCm39)	V293A	probably damaging	Het
Bag6	T	A	17: 35,363,130 (GRCm39)	S657T	probably benign	Het
Btaf1	T	C	19: 36,946,508 (GRCm39)	L438P	probably damaging	Het
Cdc20	T	C	4: 118,293,757 (GRCm39)	E126G	probably benign	Het
Cep97	C	T	16: 55,739,915 (GRCm39)	W248*	probably null	Het
Cfap69	A	T	5: 5,696,958 (GRCm39)	S113T	probably benign	Het
Cgrrf1	C	A	14: 47,091,200 (GRCm39)	D241E	probably benign	Het
Cnksr1	T	C	4: 133,960,608 (GRCm39)	T280A	possibly damaging	Het
Cox4i1	T	A	8: 121,398,022 (GRCm39)		probably benign	Het
Cpm	T	A	10: 117,519,414 (GRCm39)	F441I	probably benign	Het
Cs	A	C	10: 128,188,952 (GRCm39)	M154L		Het
Dmrta1	T	A	4: 89,579,914 (GRCm39)	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,560,297 (GRCm39)	T2125A	probably benign	Het
Dock10	A	T	1: 80,584,012 (GRCm39)		probably benign	Het
Dok7	A	G	5: 35,236,819 (GRCm39)	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,822,969 (GRCm39)	Y225C	probably damaging	Het
Elapor1	G	A	3: 108,370,819 (GRCm39)	T687I	probably benign	Het
F7	T	C	8: 13,076,087 (GRCm39)	L10P	possibly damaging	Het
Faf1	C	A	4: 109,748,105 (GRCm39)	T470K	possibly damaging	Het
Fam83h	A	T	15: 75,875,738 (GRCm39)	L533Q	possibly damaging	Het
Far1	T	A	7: 113,146,629 (GRCm39)	V129E	probably damaging	Het
Fgfr4	T	C	13: 55,306,967 (GRCm39)	Y219H	probably damaging	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Gaa	T	A	11: 119,161,207 (GRCm39)	D83E	probably benign	Het
Grm2	A	G	9: 106,528,384 (GRCm39)	S167P	possibly damaging	Het
H1f11-ps	T	C	19: 47,159,129 (GRCm39)	K149E	unknown	Het
Hibch	T	C	1: 52,892,868 (GRCm39)	L26P	possibly damaging	Het
Hspa9	T	C	18: 35,075,084 (GRCm39)	E415G	probably damaging	Het
Ipo4	T	C	14: 55,866,408 (GRCm39)	Y757C	probably damaging	Het
Itk	T	A	11: 46,235,710 (GRCm39)		probably benign	Het
Kdm5a	C	T	6: 120,416,092 (GRCm39)	P1671S	probably benign	Het
Kif13a	G	A	13: 46,951,841 (GRCm39)	P811S	probably damaging	Het
Kif23	T	C	9: 61,828,341 (GRCm39)	E857G	probably damaging	Het
Kif2b	A	G	11: 91,468,011 (GRCm39)	S91P	probably benign	Het
Letm1	G	T	5: 33,909,847 (GRCm39)	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,388,799 (GRCm39)	M247K		Het
Mga	A	G	2: 119,778,070 (GRCm39)	I1872V	probably benign	Het
Mmp15	A	T	8: 96,096,316 (GRCm39)	N369I	probably benign	Het
Myo3a	T	A	2: 22,490,099 (GRCm39)	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,418,736 (GRCm39)	T855A		Het
Ncoa2	A	G	1: 13,223,079 (GRCm39)	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,360,992 (GRCm39)	C254*	probably null	Het
Nlrp1a	C	T	11: 71,013,819 (GRCm39)	R477H	probably benign	Het
Nox3	T	A	17: 3,716,185 (GRCm39)	T407S	possibly damaging	Het
Or1x6	C	T	11: 50,939,660 (GRCm39)	T242M	probably damaging	Het
Or3a1d	T	C	11: 74,237,747 (GRCm39)	Y101C	probably damaging	Het
Or4c15b	T	A	2: 89,112,676 (GRCm39)	D267V	probably damaging	Het
Pfkp	T	A	13: 6,655,725 (GRCm39)	I303F	probably damaging	Het
Pgc	T	C	17: 48,043,983 (GRCm39)	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,999,373 (GRCm39)	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,701,098 (GRCm39)	N1613D	probably damaging	Het
Prb1b	C	T	6: 132,289,618 (GRCm39)	E69K	unknown	Het
Rapgef2	A	G	3: 78,981,651 (GRCm39)	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,807,032 (GRCm39)	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,109,605 (GRCm39)	N476K	probably damaging	Het
Slk	T	G	19: 47,608,512 (GRCm39)	N488K	probably benign	Het
Smarca5	T	C	8: 81,440,642 (GRCm39)	I607M	probably damaging	Het
Sspo	G	A	6: 48,473,087 (GRCm39)	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199 (GRCm39)	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,872,111 (GRCm39)	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,242,650 (GRCm39)	H78R	probably benign	Het
Trav14-3	C	A	14: 54,000,887 (GRCm39)	Q33K	unknown	Het
Ubtd2	T	C	11: 32,449,432 (GRCm39)	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,066,744 (GRCm39)		probably null	Het
Vmn1r224	T	G	17: 20,640,112 (GRCm39)	S230A	possibly damaging	Het
Wee2	A	T	6: 40,421,189 (GRCm39)	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,796,934 (GRCm39)	E279G	probably damaging	Het
Zfp623	T	A	15: 75,819,349 (GRCm39)	F102I	probably damaging	Het
Zfpm2	A	C	15: 40,966,758 (GRCm39)	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,506,116 (GRCm39)		probably benign	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
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
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'- AGACGTGTTTGCTGGCATC -3'
(R):5'- CCAGCTCCACATTGCAGTAG -3'

Sequencing Primer
(F):5'- GTTTGCTGGCATCGCTAAC -3'
(R):5'- TCTAGTTGTTCTCAGGATAAG -3'

Posted On

2021-11-19