Incidental Mutation 'R1525:Slc34a2'
| ID |
167773 |
| 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 |
040872-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53226848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 657
(D657G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094787
AA Change: D657G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: D657G
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,252,062 (GRCm39) |
H840Q |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,605,767 (GRCm39) |
R540C |
probably damaging |
Het |
| Brpf1 |
A |
G |
6: 113,294,115 (GRCm39) |
E605G |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,694,199 (GRCm39) |
I865V |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,876,046 (GRCm39) |
F199I |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,600,521 (GRCm39) |
V27A |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,690,230 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
G |
T |
15: 82,273,498 (GRCm39) |
L458I |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,408,138 (GRCm39) |
E1898G |
probably damaging |
Het |
| Dennd4b |
G |
T |
3: 90,178,177 (GRCm39) |
L456F |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,395,786 (GRCm39) |
T66A |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,583,881 (GRCm39) |
|
probably null |
Het |
| Fam110b |
A |
G |
4: 5,799,578 (GRCm39) |
D332G |
possibly damaging |
Het |
| Fem1al |
A |
C |
11: 29,773,994 (GRCm39) |
Y488D |
probably benign |
Het |
| Frmd4b |
G |
A |
6: 97,273,347 (GRCm39) |
P628S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,753,529 (GRCm39) |
H852Q |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,450,751 (GRCm39) |
V116A |
probably damaging |
Het |
| Ints9 |
T |
C |
14: 65,232,460 (GRCm39) |
I173T |
probably benign |
Het |
| Kctd14 |
A |
T |
7: 97,107,074 (GRCm39) |
M110L |
probably benign |
Het |
| Krt6a |
T |
G |
15: 101,602,637 (GRCm39) |
Y16S |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,006,502 (GRCm39) |
N883S |
probably benign |
Het |
| Larp4b |
C |
T |
13: 9,195,486 (GRCm39) |
T195M |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,375,398 (GRCm39) |
L4432P |
probably damaging |
Het |
| Mei4 |
T |
C |
9: 81,772,252 (GRCm39) |
S22P |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,802,527 (GRCm39) |
Q166R |
probably damaging |
Het |
| Mroh2b |
C |
A |
15: 4,980,612 (GRCm39) |
|
probably null |
Het |
| Myoc |
T |
G |
1: 162,476,220 (GRCm39) |
L308R |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,684,155 (GRCm39) |
R302S |
probably null |
Het |
| Or2t6 |
T |
A |
14: 14,175,725 (GRCm38) |
Y119F |
probably damaging |
Het |
| Or4c101 |
C |
G |
2: 88,389,985 (GRCm39) |
S57R |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,087,217 (GRCm39) |
T478S |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,827,769 (GRCm39) |
K222E |
probably damaging |
Het |
| Prss16 |
A |
C |
13: 22,193,613 (GRCm39) |
L61V |
possibly damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,644,551 (GRCm39) |
Q328* |
probably null |
Het |
| Ranbp3 |
A |
G |
17: 57,017,865 (GRCm39) |
D481G |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
G |
T |
2: 112,508,435 (GRCm39) |
D3419E |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,149,806 (GRCm39) |
W946* |
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,266,864 (GRCm39) |
K242E |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,532,533 (GRCm39) |
I2930K |
probably benign |
Het |
| Syna |
T |
C |
5: 134,588,112 (GRCm39) |
D279G |
probably benign |
Het |
| Tfr2 |
T |
C |
5: 137,577,292 (GRCm39) |
F415L |
probably benign |
Het |
| Tmem97 |
T |
A |
11: 78,433,586 (GRCm39) |
Y103F |
probably damaging |
Het |
| Tmem97 |
A |
T |
11: 78,433,587 (GRCm39) |
Y103N |
probably damaging |
Het |
| Txndc2 |
T |
A |
17: 65,945,310 (GRCm39) |
D289V |
probably damaging |
Het |
| Zbtb1 |
T |
G |
12: 76,433,206 (GRCm39) |
D397E |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,140,677 (GRCm39) |
S847P |
probably benign |
Het |
| Zfp382 |
G |
A |
7: 29,833,144 (GRCm39) |
G265E |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,369,740 (GRCm39) |
L39S |
probably damaging |
Het |
| Zfp729a |
G |
T |
13: 67,767,440 (GRCm39) |
P930T |
probably benign |
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 |
|
R0524:Slc34a2
|
UTSW |
5 |
53,222,215 (GRCm39) |
nonsense |
probably null |
|
|
R0836:Slc34a2
|
UTSW |
5 |
53,225,049 (GRCm39) |
missense |
probably benign |
|
|
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'- CCCTTGTGGATGCACTCTCTGAAAC -3'
(R):5'- AATCCTAGCGAGGTAGCTGGAGAC -3'
Sequencing Primer
(F):5'- ATGCACTCTCTGAAACCCTGG -3'
(R):5'- GTAGCTGGAGACGCTTACG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation