Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Slc4a2'

206560

Institutional Source

Beutler Lab

Gene Symbol

Slc4a2

Ensembl Gene

ENSMUSG00000028962

Gene Name

solute carrier family 4 (anion exchanger), member 2

Synonyms

B3RP, Ae2

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.454) question?

Stock #

R1823 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

24423837-24440950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24427620 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 12 (A12V)

Ref Sequence

ENSEMBL: ENSMUSP00000117215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000080067] [ENSMUST00000115047] [ENSMUST00000115049] [ENSMUST00000141966] [ENSMUST00000153274] [ENSMUST00000155598] [ENSMUST00000198990]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030814

SMART Domains

Protein: ENSMUSP00000030814
Gene: ENSMUSG00000028969

Domain	Start	End	E-Value	Type
S_TKc	4	286	6.11e-101	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080067
AA Change: A12V

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: A12V

Domain	Start	End	E-Value	Type
low complexity region	93	110	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
low complexity region	138	151	N/A	INTRINSIC
low complexity region	169	178	N/A	INTRINSIC
low complexity region	200	216	N/A	INTRINSIC
low complexity region	296	313	N/A	INTRINSIC
Pfam:Band_3_cyto	348	616	4.7e-111	PFAM
Pfam:HCO3_cotransp	671	1165	1.7e-217	PFAM
transmembrane domain	1183	1200	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115047

SMART Domains

Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962

Domain	Start	End	E-Value	Type
low complexity region	79	96	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
low complexity region	124	137	N/A	INTRINSIC
low complexity region	155	164	N/A	INTRINSIC
low complexity region	186	202	N/A	INTRINSIC
low complexity region	282	299	N/A	INTRINSIC
Pfam:Band_3_cyto	334	602	7.2e-108	PFAM
Pfam:HCO3_cotransp	656	1151	1e-244	PFAM
transmembrane domain	1169	1186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115049

SMART Domains

Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962

Domain	Start	End	E-Value	Type
low complexity region	84	101	N/A	INTRINSIC
low complexity region	103	126	N/A	INTRINSIC
low complexity region	129	142	N/A	INTRINSIC
low complexity region	160	169	N/A	INTRINSIC
low complexity region	191	207	N/A	INTRINSIC
low complexity region	287	304	N/A	INTRINSIC
Pfam:Band_3_cyto	339	607	7.3e-108	PFAM
Pfam:HCO3_cotransp	661	1156	1e-244	PFAM
transmembrane domain	1174	1191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139081

Predicted Effect

probably damaging
Transcript: ENSMUST00000141966
AA Change: A12V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117215
Gene: ENSMUSG00000028962
AA Change: A12V

Domain	Start	End	E-Value	Type
low complexity region	93	110	N/A	INTRINSIC
low complexity region	113	129	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146765

Predicted Effect

probably benign
Transcript: ENSMUST00000153274

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155598
AA Change: A12V

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118473
Gene: ENSMUSG00000028962
AA Change: A12V

Domain	Start	End	E-Value	Type
low complexity region	93	110	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155636

Predicted Effect

probably benign
Transcript: ENSMUST00000198990

SMART Domains

Protein: ENSMUSP00000142413
Gene: ENSMUSG00000028969

Domain	Start	End	E-Value	Type
Pfam:Pkinase	4	101	9.7e-23	PFAM
Pfam:Pkinase_Tyr	4	102	2.7e-13	PFAM
Pfam:Pkinase	97	254	6.6e-30	PFAM
Pfam:Pkinase_Tyr	102	200	9.4e-6	PFAM

Meta Mutation Damage Score

0.0658

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

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 anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice carrying an isoform-specific allele display male infertility associated with disrupted spermiogenesis and germ cell apoptosis. Mice homozygous for a null allele display perinatal and postnatal lethality, loss of gastric acid secretion, failure of tooth eruption, aphagia, and deafness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852		probably null	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cbs	G	A	17: 31,624,271	H229Y	probably damaging	Het
Cct8	G	A	16: 87,490,554	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,327,559	A250T	probably damaging	Het
Chrd	A	G	16: 20,741,347		probably benign	Het
Ckap2l	A	G	2: 129,275,579	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539	N557S	probably benign	Het
Dct	T	G	14: 118,036,523	N324T	probably benign	Het
Dip2a	A	T	10: 76,278,502	L999*	probably null	Het
Dock10	T	A	1: 80,543,097		probably null	Het
Dync2li1	A	T	17: 84,649,797	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097		probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myocd	C	A	11: 65,178,670	M909I	probably benign	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pcdhb9	A	G	18: 37,402,818	T622A	probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,903,658		probably null	Het
Plekhh2	A	G	17: 84,575,189	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287		probably null	Het
Prcp	A	T	7: 92,928,675	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,270,194	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Rad9a	A	T	19: 4,197,242	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sema6d	A	G	2: 124,659,556		probably null	Het
Slco6b1	T	G	1: 96,961,176		noncoding transcript	Het
Slf2	A	T	19: 44,935,248	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218	P124T	probably benign	Het
Zfp780b	A	T	7: 27,963,100	C677S	possibly damaging	Het

Other mutations in Slc4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Slc4a2	APN	5	24439068	missense	probably damaging	1.00
IGL00772:Slc4a2	APN	5	24435196	missense	probably damaging	1.00
IGL00897:Slc4a2	APN	5	24429559	nonsense	probably null
IGL01477:Slc4a2	APN	5	24430156	unclassified	probably benign
IGL01680:Slc4a2	APN	5	24432930	missense	probably benign	0.23
IGL01681:Slc4a2	APN	5	24434187	missense	probably damaging	1.00
IGL01808:Slc4a2	APN	5	24440207	missense	probably damaging	1.00
IGL02399:Slc4a2	APN	5	24434713	missense	probably damaging	1.00
IGL02501:Slc4a2	APN	5	24429434	missense	probably benign	0.00
IGL03214:Slc4a2	APN	5	24434881	missense	probably benign	0.01
R0238:Slc4a2	UTSW	5	24436274	splice site	probably null
R0238:Slc4a2	UTSW	5	24436274	splice site	probably null
R0309:Slc4a2	UTSW	5	24434346	missense	probably damaging	1.00
R0325:Slc4a2	UTSW	5	24435943	missense	probably damaging	1.00
R0656:Slc4a2	UTSW	5	24431259	missense	probably benign	0.05
R0755:Slc4a2	UTSW	5	24435577	missense	probably benign	0.07
R0946:Slc4a2	UTSW	5	24435886	missense	probably damaging	1.00
R1075:Slc4a2	UTSW	5	24439057	missense	possibly damaging	0.85
R1733:Slc4a2	UTSW	5	24429567	missense	probably damaging	1.00
R1794:Slc4a2	UTSW	5	24439328	missense	probably damaging	1.00
R2048:Slc4a2	UTSW	5	24431559	missense	probably damaging	1.00
R2165:Slc4a2	UTSW	5	24431316	missense	probably damaging	1.00
R2181:Slc4a2	UTSW	5	24435653	missense	possibly damaging	0.80
R2405:Slc4a2	UTSW	5	24435601	missense	probably damaging	1.00
R3551:Slc4a2	UTSW	5	24430101	missense	probably benign	0.01
R4423:Slc4a2	UTSW	5	24439848	nonsense	probably null
R4457:Slc4a2	UTSW	5	24434330	unclassified	probably benign
R4678:Slc4a2	UTSW	5	24434240	critical splice donor site	probably null
R4730:Slc4a2	UTSW	5	24434880	missense	probably damaging	1.00
R4824:Slc4a2	UTSW	5	24440143	missense	probably damaging	1.00
R4928:Slc4a2	UTSW	5	24435342	critical splice donor site	probably null
R4993:Slc4a2	UTSW	5	24434869	missense	probably damaging	1.00
R5071:Slc4a2	UTSW	5	24438762	missense	probably benign
R5072:Slc4a2	UTSW	5	24438762	missense	probably benign
R5073:Slc4a2	UTSW	5	24438762	missense	probably benign
R5074:Slc4a2	UTSW	5	24438762	missense	probably benign
R5108:Slc4a2	UTSW	5	24439333	missense	probably damaging	1.00
R5135:Slc4a2	UTSW	5	24430127	missense	possibly damaging	0.78
R5349:Slc4a2	UTSW	5	24435635	missense	possibly damaging	0.74
R5601:Slc4a2	UTSW	5	24438774	missense	probably benign	0.07
R5666:Slc4a2	UTSW	5	24434838	missense	probably damaging	1.00
R5670:Slc4a2	UTSW	5	24434838	missense	probably damaging	1.00
R6256:Slc4a2	UTSW	5	24435890	missense	probably damaging	1.00
R6861:Slc4a2	UTSW	5	24435009	missense	probably damaging	1.00
R7360:Slc4a2	UTSW	5	24429715	missense	probably benign	0.11
R7494:Slc4a2	UTSW	5	24432864	missense	possibly damaging	0.91
R7740:Slc4a2	UTSW	5	24431668	splice site	probably null
R8087:Slc4a2	UTSW	5	24438749	unclassified	probably benign
R8966:Slc4a2	UTSW	5	24430094	missense	probably benign
R9236:Slc4a2	UTSW	5	24439310	missense	probably benign
R9287:Slc4a2	UTSW	5	24434125	missense	probably damaging	1.00
R9430:Slc4a2	UTSW	5	24431319	missense	probably benign	0.09
R9492:Slc4a2	UTSW	5	24439763	missense	probably benign	0.11
R9661:Slc4a2	UTSW	5	24435007	missense	probably damaging	1.00
X0027:Slc4a2	UTSW	5	24435914	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCCCTTCAATAGCACAGTC -3'
(R):5'- ACACTCTGCAAAGTCTTGGTG -3'

Sequencing Primer
(F):5'- GCACAGTCTAGAAGGATCTTGTAC -3'
(R):5'- GTGAATGGCTGTGCTTCTCAATCC -3'

Posted On

2014-06-23