Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Slc9b2'

453472

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

NHE10, NHA2, nha-oc, C80638, Nhedc2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135013083-135048606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 135024179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 77 (A77S)

Ref Sequence

ENSEMBL: ENSMUSP00000060640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051849] [ENSMUST00000145195] [ENSMUST00000149655]

AlphaFold

Q5BKR2

Predicted Effect

probably benign
Transcript: ENSMUST00000051849
AA Change: A77S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994
AA Change: A77S

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

noncoding transcript
Transcript: ENSMUST00000126034

Predicted Effect

probably benign
Transcript: ENSMUST00000145195

SMART Domains

Protein: ENSMUSP00000123083
Gene: ENSMUSG00000037994

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149655

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aadacl4fm5	T	A	4: 144,513,100 (GRCm39)		probably benign	Het
Adgrd1	G	A	5: 129,221,074 (GRCm39)	A488T	probably benign	Het
Ano3	T	C	2: 110,605,355 (GRCm39)	S284G	probably damaging	Het
Aox1	G	T	1: 58,376,509 (GRCm39)	V897L	probably benign	Het
Arl6	T	A	16: 59,434,209 (GRCm39)		probably null	Het
Blnk	G	A	19: 40,917,660 (GRCm39)	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590 (GRCm39)	T1221I	probably benign	Het
Cbll1	A	T	12: 31,542,171 (GRCm39)	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,086,484 (GRCm39)	Y279H	probably damaging	Het
Cflar	A	T	1: 58,780,190 (GRCm39)	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,897,272 (GRCm39)	Y347*	probably null	Het
Defa27	T	C	8: 21,805,583 (GRCm39)	S8P	probably damaging	Het
Depdc5	A	C	5: 33,113,511 (GRCm39)		probably null	Het
Dlg5	A	G	14: 24,216,323 (GRCm39)	F573S	probably damaging	Het
Fam20c	A	T	5: 138,741,749 (GRCm39)	E120V	probably benign	Het
Fam53a	T	C	5: 33,764,819 (GRCm39)	K296E	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,972,355 (GRCm39)	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,476,042 (GRCm39)		probably null	Het
Gm7582	G	A	1: 85,019,588 (GRCm39)		noncoding transcript	Het
Golga7b	A	C	19: 42,255,239 (GRCm39)	Y63S	probably damaging	Het
Hexb	A	G	13: 97,334,729 (GRCm39)	L14P	unknown	Het
Hsd17b3	A	C	13: 64,236,914 (GRCm39)	L10R	probably damaging	Het
Il6st	T	C	13: 112,635,420 (GRCm39)	F611L	probably damaging	Het
Ints13	T	A	6: 146,457,646 (GRCm39)	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,799,146 (GRCm39)	C685F	probably damaging	Het
Kif5c	A	G	2: 49,509,729 (GRCm39)	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,497,221 (GRCm39)		probably null	Het
Minar1	A	G	9: 89,484,792 (GRCm39)	S202P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,216,397 (GRCm39)	R62Q	probably benign	Het
Myo1g	T	C	11: 6,458,183 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,037,423 (GRCm39)		probably benign	Het
Nobox	G	A	6: 43,282,095 (GRCm39)	S326L	possibly damaging	Het
Nsl1	C	A	1: 190,795,300 (GRCm39)	S22*	probably null	Het
Or5b3	A	C	19: 13,388,826 (GRCm39)	K298Q	possibly damaging	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,651,471 (GRCm39)	R940*	probably null	Het
Plcd3	T	A	11: 102,967,568 (GRCm39)	Q458L	probably benign	Het
Polm	T	A	11: 5,786,343 (GRCm39)	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330 (GRCm39)	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,053,113 (GRCm39)	K917*	probably null	Het
Rad54l2	A	G	9: 106,577,784 (GRCm39)	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,318,035 (GRCm39)		probably null	Het
Rnf215	A	G	11: 4,086,785 (GRCm39)	E194G	probably damaging	Het
Rorb	A	T	19: 18,915,336 (GRCm39)	F441I	probably damaging	Het
Sel1l2	C	A	2: 140,090,508 (GRCm39)	G378V	probably damaging	Het
Sema6a	G	T	18: 47,431,281 (GRCm39)	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,006,266 (GRCm39)	M274K	probably benign	Het
Siglec15	A	C	18: 78,092,462 (GRCm39)	L32R	probably damaging	Het
Siglecg	A	T	7: 43,067,476 (GRCm39)	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,303,066 (GRCm39)		probably benign	Het
Slit3	T	A	11: 35,598,890 (GRCm39)	V1498D	probably damaging	Het
Snorc	A	G	1: 87,402,926 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stxbp2	T	C	8: 3,683,267 (GRCm39)		probably benign	Het
Tbc1d9b	T	C	11: 50,042,773 (GRCm39)	S482P	possibly damaging	Het
Tec	A	G	5: 72,926,090 (GRCm39)	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,688,381 (GRCm39)	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tm4sf1	A	T	3: 57,200,537 (GRCm39)		probably null	Het
Tmcc1	T	C	6: 116,019,889 (GRCm39)	E306G	probably damaging	Het
Traf3ip3	A	T	1: 192,877,182 (GRCm39)		probably null	Het
Utf1	C	T	7: 139,523,875 (GRCm39)	P30L	possibly damaging	Het
Wdfy3	A	T	5: 102,077,847 (GRCm39)	C880S	probably damaging	Het

Other mutations in Slc9b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Slc9b2	APN	3	135,042,156 (GRCm39)	missense	probably benign	0.17
IGL03091:Slc9b2	APN	3	135,034,791 (GRCm39)	missense	probably damaging	0.97
IGL03203:Slc9b2	APN	3	135,031,973 (GRCm39)	missense	probably damaging	1.00
IGL03377:Slc9b2	APN	3	135,042,119 (GRCm39)	missense	probably damaging	1.00
R0008:Slc9b2	UTSW	3	135,042,269 (GRCm39)	missense	possibly damaging	0.72
R0382:Slc9b2	UTSW	3	135,024,183 (GRCm39)	missense	probably damaging	0.99
R0628:Slc9b2	UTSW	3	135,029,536 (GRCm39)	splice site	probably benign
R1263:Slc9b2	UTSW	3	135,042,156 (GRCm39)	missense	probably benign	0.17
R1478:Slc9b2	UTSW	3	135,031,863 (GRCm39)	missense	probably benign	0.45
R1809:Slc9b2	UTSW	3	135,022,892 (GRCm39)	missense	possibly damaging	0.90
R2060:Slc9b2	UTSW	3	135,032,027 (GRCm39)	missense	probably damaging	0.99
R2119:Slc9b2	UTSW	3	135,034,743 (GRCm39)	splice site	probably null
R3196:Slc9b2	UTSW	3	135,042,290 (GRCm39)	missense	probably benign	0.04
R3805:Slc9b2	UTSW	3	135,030,349 (GRCm39)	missense	probably damaging	1.00
R4127:Slc9b2	UTSW	3	135,035,598 (GRCm39)	missense	probably benign	0.00
R4401:Slc9b2	UTSW	3	135,042,305 (GRCm39)	missense	probably benign	0.04
R4402:Slc9b2	UTSW	3	135,042,305 (GRCm39)	missense	probably benign	0.04
R4622:Slc9b2	UTSW	3	135,038,279 (GRCm39)	missense	probably damaging	1.00
R6125:Slc9b2	UTSW	3	135,036,457 (GRCm39)	splice site	probably null
R7081:Slc9b2	UTSW	3	135,027,698 (GRCm39)	missense	probably benign	0.10
R7166:Slc9b2	UTSW	3	135,031,939 (GRCm39)	missense	unknown
R7203:Slc9b2	UTSW	3	135,036,422 (GRCm39)	missense	probably benign	0.04
R7307:Slc9b2	UTSW	3	135,024,151 (GRCm39)	missense	probably benign	0.03
R7617:Slc9b2	UTSW	3	135,042,221 (GRCm39)	missense	probably damaging	1.00
R7722:Slc9b2	UTSW	3	135,035,596 (GRCm39)	missense	probably null	0.20
R7748:Slc9b2	UTSW	3	135,031,940 (GRCm39)	missense	possibly damaging	0.90
R7750:Slc9b2	UTSW	3	135,031,998 (GRCm39)	missense	probably damaging	1.00
R8339:Slc9b2	UTSW	3	135,030,363 (GRCm39)	missense	possibly damaging	0.62
R8703:Slc9b2	UTSW	3	135,031,924 (GRCm39)	nonsense	probably null
R8711:Slc9b2	UTSW	3	135,030,351 (GRCm39)	missense	probably benign	0.05
R8810:Slc9b2	UTSW	3	135,035,530 (GRCm39)	missense	probably benign	0.00
R9079:Slc9b2	UTSW	3	135,042,150 (GRCm39)	missense	probably damaging	1.00
R9229:Slc9b2	UTSW	3	135,042,295 (GRCm39)	missense	probably benign
R9369:Slc9b2	UTSW	3	135,036,446 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GTGACATGTTGGTAATAAAGATGCG -3'
(R):5'- AGCTGTTCCGCCTAACAATTTC -3'

Sequencing Primer
(F):5'- AATCCTCAGTTCTAATAAAGGCAAC -3'
(R):5'- GTTCCGCCTAACAATTTCAACTTAAG -3'

Posted On

2017-02-08