Incidental Mutation 'R8027:Slc5a2'
| ID |
617769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a2
|
| Ensembl Gene |
ENSMUSG00000030781 |
| Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 2 |
| Synonyms |
Sglt2 |
| MMRRC Submission |
067466-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8027 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127864855-127871602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127869718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 384
(M384V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033044]
[ENSMUST00000033045]
[ENSMUST00000118169]
[ENSMUST00000126263]
[ENSMUST00000137038]
[ENSMUST00000142841]
[ENSMUST00000153418]
[ENSMUST00000205720]
[ENSMUST00000206909]
|
| AlphaFold |
Q923I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033044
|
| SMART Domains |
Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF647
|
62 |
301 |
5.6e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033045
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118169
AA Change: M384V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: M384V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
53 |
490 |
7e-170 |
PFAM |
|
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
635 |
N/A |
INTRINSIC |
|
transmembrane domain
|
650 |
669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126263
|
| SMART Domains |
Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF647
|
61 |
304 |
3e-102 |
PFAM |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137038
|
| SMART Domains |
Protein: ENSMUSP00000124318
Gene: ENSMUSG00000030781
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
1 |
103 |
3.3e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142841
|
| SMART Domains |
Protein: ENSMUSP00000115451
Gene: ENSMUSG00000030781
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
53 |
276 |
5.7e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205720
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206703
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206716
AA Change: M167V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206909
|
| Meta Mutation Damage Score |
0.8036 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (47/47) |
| 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 glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit increased urine glucose, increased eating and drinking behaviors, increased circulating renin activity, decreased urine osmolality, decreased serum aldosterone levels, polyuria, and decreased glucose renal reabsorption. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
C |
T |
3: 40,888,158 (GRCm39) |
T334I |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,272,574 (GRCm39) |
N527S |
probably damaging |
Het |
| Aldh5a1 |
A |
T |
13: 25,110,093 (GRCm39) |
Y147* |
probably null |
Het |
| Astn2 |
A |
C |
4: 65,459,208 (GRCm39) |
V1121G |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,747,809 (GRCm39) |
Y364N |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,906,962 (GRCm39) |
L685H |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,024,046 (GRCm39) |
L248P |
possibly damaging |
Het |
| Calcoco2 |
A |
T |
11: 95,991,241 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,543,215 (GRCm39) |
L241P |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,298,813 (GRCm38) |
|
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,125 (GRCm39) |
K101M |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,523,583 (GRCm39) |
T240I |
probably damaging |
Het |
| Fbxl8 |
C |
T |
8: 105,994,758 (GRCm39) |
T90I |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,790,983 (GRCm39) |
V998A |
probably benign |
Het |
| Fut1 |
G |
A |
7: 45,268,289 (GRCm39) |
G81E |
probably damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,331 (GRCm39) |
V285A |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,722 (GRCm39) |
T116A |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,279,727 (GRCm39) |
E145G |
probably benign |
Het |
| Grik1 |
T |
G |
16: 87,732,893 (GRCm39) |
T660P |
|
Het |
| Gzmk |
T |
A |
13: 113,308,434 (GRCm39) |
K256* |
probably null |
Het |
| Hsp90b1 |
A |
G |
10: 86,532,594 (GRCm39) |
S361P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,292,397 (GRCm39) |
S645P |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,678 (GRCm39) |
V329A |
probably benign |
Het |
| Leng8 |
CT |
C |
7: 4,145,855 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
A |
3: 86,325,219 (GRCm39) |
D1892E |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,329,976 (GRCm39) |
S101P |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,181,164 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nudt9 |
T |
A |
5: 104,212,793 (GRCm39) |
|
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,629 (GRCm39) |
I118F |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,069 (GRCm39) |
S688P |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,081,150 (GRCm39) |
M17T |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,565 (GRCm39) |
V189M |
possibly damaging |
Het |
| Ptprm |
T |
C |
17: 67,251,200 (GRCm39) |
Y559C |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,694 (GRCm39) |
Q290R |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,462,856 (GRCm39) |
Y1060C |
probably damaging |
Het |
| Sh3pxd2b |
C |
T |
11: 32,372,210 (GRCm39) |
T459M |
probably benign |
Het |
| Skint4 |
G |
T |
4: 112,015,182 (GRCm39) |
|
probably null |
Het |
| Skint8 |
T |
A |
4: 111,785,936 (GRCm39) |
D127E |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,582 (GRCm39) |
M95L |
probably benign |
Het |
| Timd5 |
T |
C |
11: 46,428,744 (GRCm39) |
I222T |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,456,706 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,727,060 (GRCm39) |
I5835T |
unknown |
Het |
| Tulp3 |
T |
C |
6: 128,311,436 (GRCm39) |
D73G |
probably benign |
Het |
| Ube2e2 |
A |
C |
14: 18,574,317 (GRCm38) |
W195G |
possibly damaging |
Het |
| Utp25 |
A |
G |
1: 192,800,530 (GRCm39) |
V430A |
probably benign |
Het |
| Wwp2 |
C |
A |
8: 108,282,109 (GRCm39) |
H768N |
probably damaging |
Het |
|
| Other mutations in Slc5a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01511:Slc5a2
|
APN |
7 |
127,869,794 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03084:Slc5a2
|
APN |
7 |
127,865,776 (GRCm39) |
missense |
probably benign |
0.25 |
|
dregs
|
UTSW |
7 |
127,866,677 (GRCm39) |
splice site |
probably null |
|
|
jimbee
|
UTSW |
7 |
0 () |
large deletion |
|
|
|
R0026:Slc5a2
|
UTSW |
7 |
127,869,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Slc5a2
|
UTSW |
7 |
127,866,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Slc5a2
|
UTSW |
7 |
127,869,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:Slc5a2
|
UTSW |
7 |
127,866,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0966:Slc5a2
|
UTSW |
7 |
127,869,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0968:Slc5a2
|
UTSW |
7 |
127,869,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1382:Slc5a2
|
UTSW |
7 |
127,869,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1383:Slc5a2
|
UTSW |
7 |
127,869,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1385:Slc5a2
|
UTSW |
7 |
127,869,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Slc5a2
|
UTSW |
7 |
127,870,428 (GRCm39) |
unclassified |
probably benign |
|
|
R4836:Slc5a2
|
UTSW |
7 |
127,866,677 (GRCm39) |
splice site |
probably null |
|
|
R4983:Slc5a2
|
UTSW |
7 |
127,870,982 (GRCm39) |
makesense |
probably null |
|
|
R5703:Slc5a2
|
UTSW |
7 |
127,869,787 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6185:Slc5a2
|
UTSW |
7 |
127,870,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6696:Slc5a2
|
UTSW |
7 |
127,869,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Slc5a2
|
UTSW |
7 |
127,871,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7062:Slc5a2
|
UTSW |
7 |
127,869,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7576:Slc5a2
|
UTSW |
7 |
127,864,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Slc5a2
|
UTSW |
7 |
127,865,567 (GRCm39) |
splice site |
probably null |
|
|
R7802:Slc5a2
|
UTSW |
7 |
127,870,970 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7915:Slc5a2
|
UTSW |
7 |
127,864,966 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8194:Slc5a2
|
UTSW |
7 |
127,870,328 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8710:Slc5a2
|
UTSW |
7 |
127,864,966 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9210:Slc5a2
|
UTSW |
7 |
127,867,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Slc5a2
|
UTSW |
7 |
127,867,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCCCAATGGTGAGTGAG -3'
(R):5'- AGCCTGTAGTTGAGGACAATCAG -3'
Sequencing Primer
(F):5'- GGGCTGGAAATGGATTGCCC -3'
(R):5'- TCAGATTTCACTGAAGCCCCG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation