Mutagenetix > Incidental Mutations

Incidental Mutation 'R7166:Slc9b2'

568522

Institutional Source

Beutler Lab

Gene Symbol

Slc9b2

Ensembl Gene

ENSMUSG00000037994

Gene Name

solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2

Synonyms

C80638, nha-oc, Nhedc2, NHE10, NHA2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135307700-135345387 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135326178 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 132 (Y132H)

Ref Sequence

ENSEMBL: ENSMUSP00000123083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051849] [ENSMUST00000145195]

Predicted Effect

silent
Transcript: ENSMUST00000051849

SMART Domains

Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994

Domain	Start	End	E-Value	Type
transmembrane domain	83	102	N/A	INTRINSIC
Pfam:Na_H_Exchanger	116	515	4.4e-32	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000145195
AA Change: Y132H

SMART Domains

Protein: ENSMUSP00000123083
Gene: ENSMUSG00000037994
AA Change: Y132H

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
transmembrane domain	47	69	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and overtly normal, with no detectable abnormalities in osteoclast differentiation and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	T	C	5: 88,467,528	L272P	possibly damaging	Het
Ash2l	C	A	8: 25,827,320	G335V	probably damaging	Het
Atp13a1	T	A	8: 69,799,316		probably null	Het
Atp13a2	G	A	4: 141,006,984	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,796,397	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,842,951	C2512F	probably damaging	Het
Cfap221	A	G	1: 119,948,113	V449A	probably benign	Het
Cfhr2	A	T	1: 139,831,101	C70*	probably null	Het
Chfr	C	A	5: 110,158,805	P472Q	probably benign	Het
Crybg2	G	A	4: 134,060,882	R22Q	probably damaging	Het
Eef2k	T	C	7: 120,884,772	F244L	probably damaging	Het
Efcab11	A	T	12: 99,883,355	M23K		Het
Ercc8	T	A	13: 108,169,433	M114K	possibly damaging	Het
Fam217a	T	C	13: 34,910,315	Y487C	probably benign	Het
Farsb	T	C	1: 78,471,184	N205S	probably benign	Het
Glra1	A	G	11: 55,515,078	F370S	probably benign	Het
Gm12258	T	A	11: 58,858,473	M158K		Het
Gm14305	T	A	2: 176,720,943	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,378,201	Q611L	unknown	Het
Gm5580	A	G	6: 116,551,368	I69V	probably benign	Het
Haus6	T	C	4: 86,583,687	E649G	possibly damaging	Het
Hist1h4j	A	G	13: 21,735,151	H19R	unknown	Het
Hlcs	C	T	16: 94,262,726	D345N	possibly damaging	Het
Htt	C	A	5: 34,852,894	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,378,190	V481I	probably benign	Het
Jak3	T	C	8: 71,682,316	I531T	probably damaging	Het
Kng1	T	A	16: 23,079,678	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446	S4131T	probably damaging	Het
Npnt	A	G	3: 132,948,128	S31P	probably damaging	Het
Olfr1098	T	A	2: 86,922,748	K261N	probably damaging	Het
Olfr1186	A	T	2: 88,525,646	Q21L	possibly damaging	Het
Olfr398	A	T	11: 73,984,295	F104L	possibly damaging	Het
Paxx	A	T	2: 25,460,226	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528	R144Q	unknown	Het
Rab2b	C	A	14: 52,279,345		probably benign	Het
Rnf207	A	G	4: 152,311,780	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,509	Q12R		Het
Ryr3	T	G	2: 112,875,028	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,812,812	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,198,829	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,883,839	T537A	probably benign	Het
Sltm	T	C	9: 70,584,850	L725S	probably damaging	Het
Spz1	A	G	13: 92,575,927	C14R	probably benign	Het
Srrm4	T	A	5: 116,471,242	Q172L	unknown	Het
Synj2bp	T	C	12: 81,504,515	D92G	probably benign	Het
Tmem169	A	C	1: 72,301,070	T220P	probably benign	Het
Ttn	T	A	2: 76,888,028	I7270F	unknown	Het
Txndc16	T	G	14: 45,183,154	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,145	Y2499H		Het
Ugt2b38	T	C	5: 87,410,446	D452G	probably damaging	Het
Zfp12	T	A	5: 143,245,502	I560N	possibly damaging	Het
Zfp60	A	G	7: 27,749,512	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,088,499	C492S	probably damaging	Het

Other mutations in Slc9b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Slc9b2	APN	3	135336395	missense	probably benign	0.17
IGL03091:Slc9b2	APN	3	135329030	missense	probably damaging	0.97
IGL03203:Slc9b2	APN	3	135326212	missense	probably damaging	1.00
IGL03377:Slc9b2	APN	3	135336358	missense	probably damaging	1.00
IGL02988:Slc9b2	UTSW	3	135318418	missense	probably benign	0.02
R0008:Slc9b2	UTSW	3	135336508	missense	possibly damaging	0.72
R0382:Slc9b2	UTSW	3	135318422	missense	probably damaging	0.99
R0628:Slc9b2	UTSW	3	135323775	splice site	probably benign
R1263:Slc9b2	UTSW	3	135336395	missense	probably benign	0.17
R1478:Slc9b2	UTSW	3	135326102	missense	probably benign	0.45
R1809:Slc9b2	UTSW	3	135317131	missense	possibly damaging	0.90
R2060:Slc9b2	UTSW	3	135326266	missense	probably damaging	0.99
R2119:Slc9b2	UTSW	3	135328982	splice site	probably null
R3196:Slc9b2	UTSW	3	135336529	missense	probably benign	0.04
R3805:Slc9b2	UTSW	3	135324588	missense	probably damaging	1.00
R4127:Slc9b2	UTSW	3	135329837	missense	probably benign	0.00
R4401:Slc9b2	UTSW	3	135336544	missense	probably benign	0.04
R4402:Slc9b2	UTSW	3	135336544	missense	probably benign	0.04
R4622:Slc9b2	UTSW	3	135332518	missense	probably damaging	1.00
R6125:Slc9b2	UTSW	3	135330696	splice site	probably null
R7081:Slc9b2	UTSW	3	135321937	missense	probably benign	0.10
R7203:Slc9b2	UTSW	3	135330661	missense	probably benign	0.04
R7307:Slc9b2	UTSW	3	135318390	missense	probably benign	0.03
R7617:Slc9b2	UTSW	3	135336460	missense	probably damaging	1.00
R7722:Slc9b2	UTSW	3	135329835	missense	probably null	0.20
R7748:Slc9b2	UTSW	3	135326179	missense	possibly damaging	0.90
R7750:Slc9b2	UTSW	3	135326237	missense	probably damaging	1.00
R8339:Slc9b2	UTSW	3	135324602	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TATAGAAACACGGAGGCACTGTTAC -3'
(R):5'- AGGCAGGAGTAAGCAGCTTC -3'

Sequencing Primer
(F):5'- AGGCACTGTTACGAATTCCG -3'
(R):5'- CAGGAGTAAGCAGCTTCTGATTTG -3'

Posted On

2019-08-15