Mutagenetix > Incidental Mutation

Incidental Mutation 'R4631:Slc9a2'

349161

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

041896-MU

Accession Numbers

Essential gene?

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

Stock #

R4631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40720872-40808045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40801078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 536 (D536V)

Ref Sequence

ENSEMBL: ENSMUSP00000027231 (fasta)

Gene Model

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

AlphaFold

Q3ZAS0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027231
AA Change: D536V

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: D536V

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

noncoding transcript
Transcript: ENSMUST00000192294

Meta Mutation Damage Score

0.1420

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,270 (GRCm39)	L368Q	probably damaging	Het
Abcc2	C	T	19: 43,803,146 (GRCm39)	P661S	possibly damaging	Het
Adgre4	T	G	17: 56,121,305 (GRCm39)	M457R	probably null	Het
Ank	C	A	15: 27,467,176 (GRCm39)	F29L	probably benign	Het
Arhgap20	T	C	9: 51,751,653 (GRCm39)		probably benign	Het
Atf6	T	C	1: 170,574,766 (GRCm39)		probably null	Het
Bhmt1b	G	A	18: 87,774,525 (GRCm39)	R16H	probably damaging	Het
Bod1l	A	G	5: 41,975,078 (GRCm39)	F2079L	probably damaging	Het
Cd163	T	C	6: 124,306,045 (GRCm39)	*1122Q	probably null	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,926,697 (GRCm39)	Y558H	probably benign	Het
Ctsm	T	A	13: 61,685,510 (GRCm39)	S301C	probably null	Het
Dlc1	A	C	8: 37,404,712 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,737,822 (GRCm39)	I435F	probably damaging	Het
Dnah5	T	C	15: 28,402,099 (GRCm39)	V3420A	probably damaging	Het
Dnah5	T	A	15: 28,420,140 (GRCm39)	Y3813N	probably damaging	Het
Dnajc13	A	G	9: 104,067,616 (GRCm39)	M1181T	probably damaging	Het
Drc3	C	A	11: 60,255,734 (GRCm39)	T107N	probably benign	Het
Dydc2	T	C	14: 40,771,286 (GRCm39)	E131G	probably benign	Het
Eif5b	T	C	1: 38,080,828 (GRCm39)	V723A	probably damaging	Het
Fndc9	C	A	11: 46,128,675 (GRCm39)	H65N	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Gps1	T	A	11: 120,679,065 (GRCm39)		probably null	Het
Gvin3	A	G	7: 106,198,730 (GRCm39)		noncoding transcript	Het
Kazn	G	A	4: 141,845,471 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnip1	T	A	11: 33,942,821 (GRCm39)		noncoding transcript	Het
Kif19a	A	G	11: 114,675,673 (GRCm39)	I382V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Malsu1	A	T	6: 49,061,467 (GRCm39)	E177V	probably damaging	Het
Man2a2	A	G	7: 80,012,211 (GRCm39)	F649L	probably benign	Het
Map3k11	A	G	19: 5,740,941 (GRCm39)	I223V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh9	T	G	15: 77,681,228 (GRCm39)	D164A	probably damaging	Het
Myo16	T	C	8: 10,556,984 (GRCm39)	I1040T	probably damaging	Het
Myo18b	C	T	5: 112,994,266 (GRCm39)	A896T	probably damaging	Het
Myocd	G	T	11: 65,069,685 (GRCm39)	N798K	probably benign	Het
Or13c7b	T	C	4: 43,820,563 (GRCm39)	D266G	probably benign	Het
Or1n1b	T	G	2: 36,780,630 (GRCm39)	T77P	probably benign	Het
Or2l13b	G	A	16: 19,348,891 (GRCm39)	R260*	probably null	Het
Or4c11	C	T	2: 88,695,174 (GRCm39)	T75I	probably benign	Het
Or4g7	T	A	2: 111,309,908 (GRCm39)	W260R	probably damaging	Het
Or52a5	A	T	7: 103,426,682 (GRCm39)	L290Q	probably damaging	Het
Or5b105	T	A	19: 13,080,636 (GRCm39)	I11F	probably benign	Het
Pcdh18	T	A	3: 49,710,890 (GRCm39)	I142F	probably damaging	Het
Pcyox1	T	C	6: 86,366,212 (GRCm39)	E334G	possibly damaging	Het
Pcyox1	T	C	6: 86,366,125 (GRCm39)	D363G	probably benign	Het
Pgm2	A	G	5: 64,263,290 (GRCm39)		probably null	Het
Plagl1	T	G	10: 13,003,743 (GRCm39)		probably benign	Het
Ppp1r9a	A	G	6: 4,906,537 (GRCm39)	D364G	possibly damaging	Het
Rab2b	T	A	14: 52,503,699 (GRCm39)	H141L	possibly damaging	Het
Rev3l	A	G	10: 39,704,412 (GRCm39)	K279E	probably benign	Het
Rnf111	G	T	9: 70,357,678 (GRCm39)	T607N	probably benign	Het
Scn8a	C	A	15: 100,914,384 (GRCm39)	S1130*	probably null	Het
Selenbp1	A	G	3: 94,851,879 (GRCm39)	*473W	probably null	Het
Sh3bp4	A	C	1: 89,071,995 (GRCm39)	D281A	probably damaging	Het
Skint5	T	A	4: 113,486,314 (GRCm39)		probably null	Het
Slc1a4	A	G	11: 20,258,452 (GRCm39)	L249P	probably damaging	Het
Slc45a2	T	A	15: 11,012,662 (GRCm39)	S222T	probably benign	Het
Slc7a4	A	G	16: 17,392,255 (GRCm39)	F393S	probably damaging	Het
Stra6	T	A	9: 58,048,115 (GRCm39)		probably benign	Het
Tmem145	A	G	7: 25,007,250 (GRCm39)	D156G	probably benign	Het
Tns3	A	C	11: 8,401,119 (GRCm39)	F1060V	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Trappc8	A	G	18: 21,000,865 (GRCm39)	S273P	probably benign	Het
Trmt11	A	G	10: 30,435,200 (GRCm39)	S320P	probably benign	Het
Ugt1a6a	A	T	1: 88,066,980 (GRCm39)	Y262F	probably benign	Het
Vmn1r73	G	A	7: 11,490,758 (GRCm39)	C192Y	probably benign	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Vmn2r25	T	A	6: 123,829,962 (GRCm39)	D63V	possibly damaging	Het
Vps13b	C	T	15: 35,646,278 (GRCm39)	H1461Y	possibly damaging	Het
Ythdc2	A	T	18: 45,020,698 (GRCm39)	E1427D	probably benign	Het
Zbed6	A	T	1: 133,586,482 (GRCm39)	V285E	probably damaging	Het
Zbtb26	A	G	2: 37,326,968 (GRCm39)	F23L	probably benign	Het
Zfp62	T	A	11: 49,108,632 (GRCm39)	*908R	probably null	Het
Zfp975	A	T	7: 42,312,369 (GRCm39)	N81K	probably benign	Het
Zkscan16	G	A	4: 58,951,918 (GRCm39)	V198M	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
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

PCR Primer
(F):5'- TCAAAGAGTTTGACCTGGTGG -3'
(R):5'- TTCCCTTGACAAAGTGGTACTC -3'

Sequencing Primer
(F):5'- CAGTTCCACTCAGAGTTTGGACG -3'
(R):5'- TGGTACTCACTTGAGAGATGC -3'

Posted On

2015-10-08