Incidental Mutation 'R4108:Slc34a2'
ID |
321463 |
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 |
040987-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4108 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 53221351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 266
(V266I)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
[ENSMUST00000170523]
|
AlphaFold |
Q9DBP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094787
AA Change: V266I
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000092380 Gene: ENSMUSG00000029188 AA Change: V266I
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 |
possibly damaging
Transcript: ENSMUST00000168667
AA Change: V266I
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000132328 Gene: ENSMUSG00000029188 AA Change: V266I
Domain | Start | End | E-Value | Type |
Pfam:Na_Pi_cotrans
|
110 |
253 |
1.2e-33 |
PFAM |
Pfam:Na_Pi_cotrans
|
379 |
517 |
4.1e-15 |
PFAM |
low complexity region
|
557 |
586 |
N/A |
INTRINSIC |
low complexity region
|
590 |
596 |
N/A |
INTRINSIC |
|
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 |
|
Meta Mutation Damage Score |
0.0781 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (65/67) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 87,061,796 (GRCm39) |
Y82C |
probably damaging |
Het |
4930579F01Rik |
T |
C |
3: 137,889,431 (GRCm39) |
N62S |
probably benign |
Het |
Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
Atp4b |
A |
G |
8: 13,446,640 (GRCm39) |
|
probably null |
Het |
Bmper |
G |
A |
9: 23,136,059 (GRCm39) |
V47I |
probably benign |
Het |
Caskin1 |
C |
A |
17: 24,721,121 (GRCm39) |
T487K |
probably benign |
Het |
Ccr7 |
C |
T |
11: 99,036,204 (GRCm39) |
M239I |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,246,601 (GRCm39) |
V944L |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,416,065 (GRCm39) |
S87P |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,737,304 (GRCm39) |
D1461V |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
A |
T |
7: 107,353,136 (GRCm39) |
M102K |
probably damaging |
Het |
Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
Dnajb2 |
G |
T |
1: 75,213,543 (GRCm39) |
E6* |
probably null |
Het |
Dtx4 |
G |
A |
19: 12,478,487 (GRCm39) |
A32V |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
Eml6 |
A |
C |
11: 29,755,136 (GRCm39) |
S880A |
probably damaging |
Het |
Fsd2 |
C |
T |
7: 81,194,715 (GRCm39) |
V483I |
probably benign |
Het |
Inf2 |
T |
C |
12: 112,574,015 (GRCm39) |
L773P |
unknown |
Het |
Kif26b |
A |
G |
1: 178,744,530 (GRCm39) |
Q1095R |
possibly damaging |
Het |
Leprotl1 |
A |
G |
8: 34,607,913 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
G |
2: 40,555,099 (GRCm39) |
V340A |
unknown |
Het |
Myh1 |
T |
C |
11: 67,102,403 (GRCm39) |
V898A |
probably benign |
Het |
Ncstn |
G |
T |
1: 171,900,111 (GRCm39) |
N254K |
probably damaging |
Het |
Nfatc1 |
T |
A |
18: 80,741,583 (GRCm39) |
H139L |
possibly damaging |
Het |
Nfe2l1 |
C |
T |
11: 96,710,220 (GRCm39) |
|
probably null |
Het |
Nfya |
G |
T |
17: 48,699,912 (GRCm39) |
Y37* |
probably null |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or2b6 |
A |
G |
13: 21,822,952 (GRCm39) |
V247A |
probably damaging |
Het |
Or7g26 |
T |
A |
9: 19,230,608 (GRCm39) |
Y265* |
probably null |
Het |
Otogl |
C |
T |
10: 107,607,105 (GRCm39) |
V2093I |
probably benign |
Het |
Phc2 |
A |
G |
4: 128,601,776 (GRCm39) |
Y77C |
probably damaging |
Het |
Pik3c2g |
C |
A |
6: 139,676,096 (GRCm39) |
A80E |
probably benign |
Het |
Plxnd1 |
G |
T |
6: 115,936,276 (GRCm39) |
H1675N |
probably damaging |
Het |
Pou4f3 |
A |
G |
18: 42,528,987 (GRCm39) |
K310R |
probably damaging |
Het |
Ppp1r12c |
T |
C |
7: 4,489,565 (GRCm39) |
D199G |
probably damaging |
Het |
Prss22 |
A |
G |
17: 24,212,847 (GRCm39) |
Y297H |
probably benign |
Het |
Psmb7 |
T |
A |
2: 38,532,211 (GRCm39) |
H78L |
probably damaging |
Het |
Rad51ap2 |
T |
C |
12: 11,508,396 (GRCm39) |
C773R |
probably damaging |
Het |
Rpl12 |
A |
T |
2: 32,851,836 (GRCm39) |
N8Y |
probably damaging |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,172,788 (GRCm39) |
|
probably benign |
Het |
Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
Setd1a |
G |
A |
7: 127,398,374 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
G |
T |
16: 36,602,755 (GRCm39) |
|
probably benign |
Het |
Smtn |
G |
A |
11: 3,476,449 (GRCm39) |
T144I |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,002,122 (GRCm39) |
N84S |
probably benign |
Het |
Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
Supt16 |
T |
C |
14: 52,400,188 (GRCm39) |
E985G |
probably damaging |
Het |
Tbcd |
T |
A |
11: 121,384,637 (GRCm39) |
H39Q |
probably benign |
Het |
Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
Tsg101 |
T |
A |
7: 46,542,242 (GRCm39) |
D99V |
probably damaging |
Het |
Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
probably benign |
Het |
Ubald1 |
C |
A |
16: 4,693,731 (GRCm39) |
M61I |
probably benign |
Het |
Ush1c |
C |
T |
7: 45,847,869 (GRCm39) |
D465N |
probably damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vps54 |
A |
G |
11: 21,262,877 (GRCm39) |
I655V |
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 |
|
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 |
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'- ACTTAGGTGGATGGCTTGCAC -3'
(R):5'- CTCCTAATAGGGTAAACCAGCC -3'
Sequencing Primer
(F):5'- CCCTCAATATAATATGGCTCTGGTGG -3'
(R):5'- GGGTAAACCAGCCTATGTTAAAG -3'
|
Posted On |
2015-06-12 |