Incidental Mutation 'R2048:Slc4a2'
| ID |
222187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a2
|
| Ensembl Gene |
ENSMUSG00000028962 |
| Gene Name |
solute carrier family 4 (anion exchanger), member 2 |
| Synonyms |
Ae2, B3RP |
| MMRRC Submission |
040055-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.505)
|
| Stock # |
R2048 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24628939-24645945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24636557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 283
(H283R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080067]
[ENSMUST00000115047]
[ENSMUST00000115049]
[ENSMUST00000141966]
[ENSMUST00000153274]
[ENSMUST00000155598]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080067
AA Change: H283R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
AA Change: H283R
| 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 damaging
Transcript: ENSMUST00000115047
AA Change: H269R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
AA Change: H269R
| 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 |
possibly damaging
Transcript: ENSMUST00000115049
AA Change: H274R
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
AA Change: H274R
| 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: ENSMUST00000132505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136440
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146765
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141966
|
| SMART Domains |
Protein: ENSMUSP00000117215
Gene: ENSMUSG00000028962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153274
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155598
|
| SMART Domains |
Protein: ENSMUSP00000118473
Gene: ENSMUSG00000028962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
110 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1970 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
G |
9: 70,647,357 (GRCm39) |
D19G |
possibly damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,633,778 (GRCm39) |
K342R |
probably benign |
Het |
| Adk |
A |
G |
14: 21,368,244 (GRCm39) |
N223S |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,289,212 (GRCm39) |
S454G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,984,420 (GRCm39) |
N1901K |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,819,755 (GRCm39) |
T1578A |
probably benign |
Het |
| Ccdc63 |
A |
C |
5: 122,268,350 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
G |
T |
7: 25,176,113 (GRCm39) |
S27Y |
probably benign |
Het |
| Cit |
T |
C |
5: 116,024,872 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,414,825 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
A |
G |
15: 82,676,928 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
A |
T |
5: 137,908,237 (GRCm39) |
V204E |
probably damaging |
Het |
| Cyp51 |
G |
A |
5: 4,136,636 (GRCm39) |
|
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,057,886 (GRCm39) |
D179G |
probably damaging |
Het |
| Epb41l4b |
T |
G |
4: 57,142,866 (GRCm39) |
E96D |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,067,202 (GRCm39) |
E2221G |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,146,169 (GRCm39) |
N597K |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
C |
A |
2: 118,072,197 (GRCm39) |
E195D |
probably damaging |
Het |
| Gm10152 |
T |
C |
7: 144,317,049 (GRCm39) |
F35L |
unknown |
Het |
| Gtpbp6 |
A |
C |
5: 110,254,931 (GRCm39) |
V87G |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,327,002 (GRCm39) |
T176A |
probably damaging |
Het |
| Il12rb2 |
G |
T |
6: 67,337,529 (GRCm39) |
N117K |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,072,680 (GRCm39) |
V734A |
probably benign |
Het |
| Klf7 |
A |
G |
1: 64,117,913 (GRCm39) |
V228A |
possibly damaging |
Het |
| Kng1 |
A |
G |
16: 22,877,354 (GRCm39) |
Y54C |
probably damaging |
Het |
| Lpcat2 |
T |
G |
8: 93,596,471 (GRCm39) |
N169K |
possibly damaging |
Het |
| Magohb |
A |
T |
6: 131,266,385 (GRCm39) |
S40R |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,633,363 (GRCm39) |
D186G |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,469,960 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
G |
16: 48,975,928 (GRCm39) |
D1332G |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,655,332 (GRCm39) |
T1208M |
possibly damaging |
Het |
| Ncor2 |
C |
T |
5: 125,161,996 (GRCm39) |
R426H |
unknown |
Het |
| Nradd |
T |
C |
9: 110,450,697 (GRCm39) |
E160G |
probably benign |
Het |
| Or10u4 |
G |
A |
10: 129,801,861 (GRCm39) |
S230L |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,093,312 (GRCm39) |
M212K |
probably benign |
Het |
| Otog |
A |
T |
7: 45,937,063 (GRCm39) |
T1591S |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,076,140 (GRCm39) |
S389P |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,434,732 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,905,773 (GRCm39) |
I105L |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,153 (GRCm39) |
R217G |
possibly damaging |
Het |
| Poteg |
A |
T |
8: 27,946,774 (GRCm39) |
I159L |
probably benign |
Het |
| Ppargc1a |
A |
G |
5: 51,705,858 (GRCm39) |
F75S |
probably damaging |
Het |
| Ptk2b |
T |
G |
14: 66,409,954 (GRCm39) |
D466A |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,655,785 (GRCm39) |
V394A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Shisa3 |
G |
A |
5: 67,768,651 (GRCm39) |
E184K |
possibly damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,311,860 (GRCm39) |
S603G |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tbcd |
G |
T |
11: 121,431,762 (GRCm39) |
C470F |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,333 (GRCm39) |
R674G |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,818,372 (GRCm39) |
C599S |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,252 (GRCm39) |
R302G |
possibly damaging |
Het |
|
| Other mutations in Slc4a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Slc4a2
|
APN |
5 |
24,644,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00772:Slc4a2
|
APN |
5 |
24,640,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00897:Slc4a2
|
APN |
5 |
24,634,557 (GRCm39) |
nonsense |
probably null |
|
|
IGL01477:Slc4a2
|
APN |
5 |
24,635,154 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01680:Slc4a2
|
APN |
5 |
24,637,928 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01681:Slc4a2
|
APN |
5 |
24,639,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01808:Slc4a2
|
APN |
5 |
24,645,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Slc4a2
|
APN |
5 |
24,639,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Slc4a2
|
APN |
5 |
24,634,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03214:Slc4a2
|
APN |
5 |
24,639,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0238:Slc4a2
|
UTSW |
5 |
24,641,272 (GRCm39) |
splice site |
probably null |
|
|
R0238:Slc4a2
|
UTSW |
5 |
24,641,272 (GRCm39) |
splice site |
probably null |
|
|
R0309:Slc4a2
|
UTSW |
5 |
24,639,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Slc4a2
|
UTSW |
5 |
24,640,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Slc4a2
|
UTSW |
5 |
24,636,257 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0755:Slc4a2
|
UTSW |
5 |
24,640,575 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0946:Slc4a2
|
UTSW |
5 |
24,640,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1075:Slc4a2
|
UTSW |
5 |
24,644,055 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1733:Slc4a2
|
UTSW |
5 |
24,634,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Slc4a2
|
UTSW |
5 |
24,644,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Slc4a2
|
UTSW |
5 |
24,632,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2165:Slc4a2
|
UTSW |
5 |
24,636,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2181:Slc4a2
|
UTSW |
5 |
24,640,651 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2405:Slc4a2
|
UTSW |
5 |
24,640,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3551:Slc4a2
|
UTSW |
5 |
24,635,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4423:Slc4a2
|
UTSW |
5 |
24,644,846 (GRCm39) |
nonsense |
probably null |
|
|
R4457:Slc4a2
|
UTSW |
5 |
24,639,328 (GRCm39) |
unclassified |
probably benign |
|
|
R4678:Slc4a2
|
UTSW |
5 |
24,639,238 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4730:Slc4a2
|
UTSW |
5 |
24,639,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Slc4a2
|
UTSW |
5 |
24,645,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Slc4a2
|
UTSW |
5 |
24,640,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4993:Slc4a2
|
UTSW |
5 |
24,639,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Slc4a2
|
UTSW |
5 |
24,643,760 (GRCm39) |
missense |
probably benign |
|
|
R5072:Slc4a2
|
UTSW |
5 |
24,643,760 (GRCm39) |
missense |
probably benign |
|
|
R5073:Slc4a2
|
UTSW |
5 |
24,643,760 (GRCm39) |
missense |
probably benign |
|
|
R5074:Slc4a2
|
UTSW |
5 |
24,643,760 (GRCm39) |
missense |
probably benign |
|
|
R5108:Slc4a2
|
UTSW |
5 |
24,644,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Slc4a2
|
UTSW |
5 |
24,635,125 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5349:Slc4a2
|
UTSW |
5 |
24,640,633 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5601:Slc4a2
|
UTSW |
5 |
24,643,772 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5666:Slc4a2
|
UTSW |
5 |
24,639,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Slc4a2
|
UTSW |
5 |
24,639,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6256:Slc4a2
|
UTSW |
5 |
24,640,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Slc4a2
|
UTSW |
5 |
24,640,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Slc4a2
|
UTSW |
5 |
24,634,713 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7494:Slc4a2
|
UTSW |
5 |
24,637,862 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7740:Slc4a2
|
UTSW |
5 |
24,636,666 (GRCm39) |
splice site |
probably null |
|
|
R8087:Slc4a2
|
UTSW |
5 |
24,643,747 (GRCm39) |
unclassified |
probably benign |
|
|
R8966:Slc4a2
|
UTSW |
5 |
24,635,092 (GRCm39) |
missense |
probably benign |
|
|
R9236:Slc4a2
|
UTSW |
5 |
24,644,308 (GRCm39) |
missense |
probably benign |
|
|
R9287:Slc4a2
|
UTSW |
5 |
24,639,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Slc4a2
|
UTSW |
5 |
24,636,317 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9492:Slc4a2
|
UTSW |
5 |
24,644,761 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9661:Slc4a2
|
UTSW |
5 |
24,640,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Slc4a2
|
UTSW |
5 |
24,640,912 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCCCTACTGATGAAAGTGAG -3'
(R):5'- ACTGCCCTAAGAATGCAGTC -3'
Sequencing Primer
(F):5'- CCCTACTGATGAAAGTGAGGCTCAG -3'
(R):5'- ATCCCTAGTTGAGGCAGCTCTG -3'
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| Posted On |
2014-08-25 |
Incidental Mutation