Incidental Mutation 'R0524:Slc34a2'
| ID |
48775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc34a2
|
| Ensembl Gene |
ENSMUSG00000029188 |
| Gene Name |
solute carrier family 34 (sodium phosphate), member 2 |
| Synonyms |
type IIb Na/Picotransporter, D5Ertd227e, NaPi-2b, Npt2b |
| MMRRC Submission |
038717-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0524 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 53222215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 302
(W302*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
[ENSMUST00000170523]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094787
AA Change: W302*
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: W302*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Pi_cotrans
|
110 |
252 |
2.3e-26 |
PFAM |
|
Pfam:Na_Pi_cotrans
|
374 |
551 |
2.6e-17 |
PFAM |
|
low complexity region
|
553 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147243
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170523
|
| SMART Domains |
Protein: ENSMUSP00000130692
Gene: ENSMUSG00000029188
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Pi_cotrans
|
110 |
187 |
2.9e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.4%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality, embryonic growth arrest, failure of embryo turning and somitogenesis, impaired placental development and impaired yolk sac vascular remodeling. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
1: 180,574,624 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,949,013 (GRCm39) |
E216G |
probably benign |
Het |
| Aoc3 |
C |
A |
11: 101,228,337 (GRCm39) |
P715T |
probably damaging |
Het |
| Bnipl |
T |
C |
3: 95,157,140 (GRCm39) |
D33G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,308,903 (GRCm39) |
H1701R |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,531,082 (GRCm39) |
H756L |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,675,154 (GRCm39) |
W159R |
probably damaging |
Het |
| Ddx49 |
A |
T |
8: 70,749,574 (GRCm39) |
I252N |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,112,317 (GRCm39) |
T1290A |
possibly damaging |
Het |
| Fam111a |
T |
A |
19: 12,565,412 (GRCm39) |
I431K |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,334,133 (GRCm39) |
D1020E |
probably benign |
Het |
| Flii |
A |
G |
11: 60,610,887 (GRCm39) |
V514A |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,283,774 (GRCm39) |
D865G |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,256,902 (GRCm39) |
V157M |
probably damaging |
Het |
| Gsr |
G |
A |
8: 34,159,208 (GRCm39) |
|
probably null |
Het |
| H1f11-ps |
T |
A |
19: 47,158,933 (GRCm39) |
K214M |
unknown |
Het |
| Hps3 |
A |
T |
3: 20,066,940 (GRCm39) |
V542E |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,234,270 (GRCm39) |
I15T |
probably benign |
Het |
| Kif2b |
T |
C |
11: 91,466,550 (GRCm39) |
R578G |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,361,571 (GRCm39) |
R676G |
possibly damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,692,302 (GRCm39) |
F94S |
possibly damaging |
Het |
| Myo7b |
C |
T |
18: 32,146,477 (GRCm39) |
V103M |
possibly damaging |
Het |
| Nmt2 |
T |
A |
2: 3,306,474 (GRCm39) |
W69R |
probably benign |
Het |
| Nsd3 |
C |
A |
8: 26,190,605 (GRCm39) |
Q1130K |
possibly damaging |
Het |
| Olfml1 |
T |
C |
7: 107,189,384 (GRCm39) |
S150P |
probably damaging |
Het |
| Or2g1 |
A |
T |
17: 38,106,496 (GRCm39) |
K54* |
probably null |
Het |
| Or5b116 |
A |
G |
19: 13,423,228 (GRCm39) |
N284S |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,238,556 (GRCm39) |
W1310R |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,091 (GRCm39) |
Q408R |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,029,488 (GRCm39) |
I700V |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,859,460 (GRCm39) |
V16A |
probably damaging |
Het |
| Pnpla8 |
C |
T |
12: 44,330,401 (GRCm39) |
Q318* |
probably null |
Het |
| Ppp1cc |
C |
T |
5: 122,310,833 (GRCm39) |
R142* |
probably null |
Het |
| Pygl |
T |
A |
12: 70,254,498 (GRCm39) |
N149I |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,581,110 (GRCm39) |
S1285T |
probably benign |
Het |
| Rdh13 |
A |
C |
7: 4,447,296 (GRCm39) |
C10W |
probably damaging |
Het |
| Rgr |
A |
T |
14: 36,760,252 (GRCm39) |
C273S |
probably benign |
Het |
| Ripk4 |
G |
T |
16: 97,556,487 (GRCm39) |
Y22* |
probably null |
Het |
| Smarce1 |
G |
A |
11: 99,104,888 (GRCm39) |
T263M |
probably damaging |
Het |
| Sypl1 |
C |
T |
12: 33,017,564 (GRCm39) |
P94L |
possibly damaging |
Het |
| Tet3 |
A |
G |
6: 83,356,924 (GRCm39) |
I878T |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,792,937 (GRCm39) |
S87P |
probably damaging |
Het |
| Tmem260 |
A |
G |
14: 48,709,935 (GRCm39) |
T163A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,555,796 (GRCm39) |
Y30403C |
probably damaging |
Het |
| Ubash3b |
A |
T |
9: 40,927,904 (GRCm39) |
M468K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,081,717 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,719 (GRCm39) |
F243S |
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,229,764 (GRCm39) |
Y45C |
probably damaging |
Het |
| Zfp704 |
T |
C |
3: 9,674,424 (GRCm39) |
D119G |
unknown |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc34a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Slc34a2
|
APN |
5 |
53,222,950 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00845:Slc34a2
|
APN |
5 |
53,215,696 (GRCm39) |
splice site |
probably benign |
|
|
IGL01024:Slc34a2
|
APN |
5 |
53,224,972 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01300:Slc34a2
|
APN |
5 |
53,225,469 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01680:Slc34a2
|
APN |
5 |
53,218,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Slc34a2
|
APN |
5 |
53,225,073 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02682:Slc34a2
|
APN |
5 |
53,216,580 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03294:Slc34a2
|
APN |
5 |
53,221,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
tucumcari
|
UTSW |
5 |
53,221,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
D4216:Slc34a2
|
UTSW |
5 |
53,222,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0094:Slc34a2
|
UTSW |
5 |
53,221,310 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0227:Slc34a2
|
UTSW |
5 |
53,226,968 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0836:Slc34a2
|
UTSW |
5 |
53,225,049 (GRCm39) |
missense |
probably benign |
|
|
R1525:Slc34a2
|
UTSW |
5 |
53,226,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1655:Slc34a2
|
UTSW |
5 |
53,226,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1753:Slc34a2
|
UTSW |
5 |
53,218,733 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1838:Slc34a2
|
UTSW |
5 |
53,215,778 (GRCm39) |
missense |
probably benign |
|
|
R2361:Slc34a2
|
UTSW |
5 |
53,225,487 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2405:Slc34a2
|
UTSW |
5 |
53,215,523 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3688:Slc34a2
|
UTSW |
5 |
53,222,174 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4108:Slc34a2
|
UTSW |
5 |
53,221,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4176:Slc34a2
|
UTSW |
5 |
53,224,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Slc34a2
|
UTSW |
5 |
53,226,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4464:Slc34a2
|
UTSW |
5 |
53,226,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4780:Slc34a2
|
UTSW |
5 |
53,226,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Slc34a2
|
UTSW |
5 |
53,226,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Slc34a2
|
UTSW |
5 |
53,224,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Slc34a2
|
UTSW |
5 |
53,218,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5309:Slc34a2
|
UTSW |
5 |
53,226,830 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5313:Slc34a2
|
UTSW |
5 |
53,226,681 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5884:Slc34a2
|
UTSW |
5 |
53,226,722 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6084:Slc34a2
|
UTSW |
5 |
53,224,989 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6310:Slc34a2
|
UTSW |
5 |
53,222,139 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6568:Slc34a2
|
UTSW |
5 |
53,226,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Slc34a2
|
UTSW |
5 |
53,221,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6845:Slc34a2
|
UTSW |
5 |
53,226,511 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6944:Slc34a2
|
UTSW |
5 |
53,222,225 (GRCm39) |
missense |
probably benign |
|
|
R7873:Slc34a2
|
UTSW |
5 |
53,215,714 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8114:Slc34a2
|
UTSW |
5 |
53,225,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8158:Slc34a2
|
UTSW |
5 |
53,218,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Slc34a2
|
UTSW |
5 |
53,225,716 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9158:Slc34a2
|
UTSW |
5 |
53,221,217 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9235:Slc34a2
|
UTSW |
5 |
53,226,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9314:Slc34a2
|
UTSW |
5 |
53,218,143 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1176:Slc34a2
|
UTSW |
5 |
53,218,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCCAGTGGCTCACATTCACAG -3'
(R):5'- AGATCACGGTCTCCAAAGCAAAAGG -3'
Sequencing Primer
(F):5'- GCTCACATTCACAGCACCC -3'
(R):5'- GCAAGAGTCATCCTTCCATGAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation