Mutagenetix > Incidental Mutation

Incidental Mutation 'R6944:Slc34a2'

540762

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

045058-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53206695-53229006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53222225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 306 (I306L)

Ref Sequence

ENSEMBL: ENSMUSP00000092380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094787] [ENSMUST00000170523]

AlphaFold

Q9DBP0

Predicted Effect

probably benign
Transcript: ENSMUST00000094787
AA Change: I306L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: I306L

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

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,863,693 (GRCm39)	V216G	probably damaging	Het
Abcb5	T	C	12: 118,875,265 (GRCm39)	R636G	probably benign	Het
Ago1	G	T	4: 126,354,215 (GRCm39)	F198L	possibly damaging	Het
Ankrd42	C	T	7: 92,268,755 (GRCm39)		probably null	Het
Anxa11	T	A	14: 25,875,176 (GRCm39)	F274I	probably damaging	Het
Ascc1	T	C	10: 59,849,475 (GRCm39)	L122P	probably damaging	Het
Bptf	T	C	11: 106,971,649 (GRCm39)	S953G	probably damaging	Het
Chml	T	A	1: 175,515,727 (GRCm39)	N65Y	probably damaging	Het
Clcc1	A	G	3: 108,578,284 (GRCm39)	K262E	probably damaging	Het
Clhc1	T	G	11: 29,519,346 (GRCm39)	D384E	probably damaging	Het
Cnot2	G	A	10: 116,373,128 (GRCm39)		probably benign	Het
Cntnap1	T	C	11: 101,073,730 (GRCm39)	V627A	probably damaging	Het
Col6a4	A	G	9: 105,949,370 (GRCm39)	V755A	probably damaging	Het
Cyp4f18	T	A	8: 72,743,738 (GRCm39)	I406F	probably benign	Het
Dclre1a	T	C	19: 56,533,451 (GRCm39)	E381G	possibly damaging	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Dnah8	C	A	17: 31,013,633 (GRCm39)	D3791E	probably benign	Het
Dnah9	T	C	11: 65,975,975 (GRCm39)	E1358G	possibly damaging	Het
Eef1g	G	A	19: 8,945,656 (GRCm39)	R30H	probably benign	Het
Egln3	A	T	12: 54,230,738 (GRCm39)	I181N	probably benign	Het
Entpd6	A	G	2: 150,605,519 (GRCm39)	T250A	probably damaging	Het
Epb41l5	C	T	1: 119,536,859 (GRCm39)	R344Q	probably damaging	Het
Fam20b	T	C	1: 156,515,091 (GRCm39)	D258G	probably benign	Het
Fbxw18	A	T	9: 109,531,655 (GRCm39)	D21E	probably damaging	Het
Fbxw21	T	C	9: 108,986,603 (GRCm39)	E92G	probably damaging	Het
Fzd6	T	A	15: 38,889,212 (GRCm39)	M110K	possibly damaging	Het
Golgb1	C	T	16: 36,732,475 (GRCm39)	P574L	probably benign	Het
Gpr153	A	G	4: 152,363,820 (GRCm39)	E80G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Kcnt1	T	C	2: 25,767,840 (GRCm39)		probably benign	Het
Kcnt2	T	G	1: 140,511,803 (GRCm39)	V962G	probably benign	Het
Malt1	T	C	18: 65,570,991 (GRCm39)	V109A	probably benign	Het
Marchf7	A	G	2: 60,064,587 (GRCm39)	I288V	probably benign	Het
Mief1	C	T	15: 80,133,644 (GRCm39)	R234C	probably damaging	Het
Morc3	A	G	16: 93,667,460 (GRCm39)	S613G	probably benign	Het
Myt1	A	G	2: 181,439,387 (GRCm39)	E345G	possibly damaging	Het
Napb	T	C	2: 148,548,889 (GRCm39)	T133A	probably benign	Het
Nwd1	T	C	8: 73,380,162 (GRCm39)	V16A	possibly damaging	Het
Oas1f	G	A	5: 120,986,247 (GRCm39)	E67K	probably benign	Het
Obscn	T	C	11: 58,929,756 (GRCm39)	K5153R	probably damaging	Het
Or2w3b	T	A	11: 58,623,068 (GRCm39)	S308C	possibly damaging	Het
Or5a3	G	T	19: 12,400,628 (GRCm39)	M318I	probably benign	Het
Or5g26	C	T	2: 85,494,195 (GRCm39)	M194I	probably benign	Het
Or6d12	T	C	6: 116,492,791 (GRCm39)	F18L	possibly damaging	Het
Pdcd2	T	C	17: 15,745,632 (GRCm39)	N185S	possibly damaging	Het
Pgap1	A	T	1: 54,569,320 (GRCm39)	W349R	probably damaging	Het
Prpf39	T	A	12: 65,089,454 (GRCm39)	V64E	probably benign	Het
Ptpn13	T	A	5: 103,624,857 (GRCm39)	W54R	probably null	Het
Rbms3	G	T	9: 116,939,173 (GRCm39)	P29Q	probably damaging	Het
Rnf123	A	G	9: 107,940,822 (GRCm39)	L679P	probably benign	Het
Samd4	T	A	14: 47,254,092 (GRCm39)	D84E	possibly damaging	Het
Scarf1	T	C	11: 75,413,032 (GRCm39)	V426A	probably benign	Het
Slc12a1	A	G	2: 125,002,454 (GRCm39)	N145D	probably damaging	Het
Slc2a6	A	T	2: 26,916,076 (GRCm39)	M99K	probably damaging	Het
Slx4ip	A	G	2: 136,910,195 (GRCm39)	K397E	probably damaging	Het
Smr3a	C	T	5: 88,155,949 (GRCm39)		probably benign	Het
Spata31h1	A	C	10: 82,132,056 (GRCm39)	I318R	probably benign	Het
Spef2	T	C	15: 9,592,835 (GRCm39)	E1502G	probably damaging	Het
Sri	A	T	5: 8,113,365 (GRCm39)	T119S	probably benign	Het
Synrg	T	A	11: 83,915,912 (GRCm39)	L1085H	probably damaging	Het
Taf7	A	T	18: 37,775,910 (GRCm39)	L219H	probably damaging	Het
Tmco3	T	A	8: 13,353,729 (GRCm39)	V347E	probably damaging	Het
Tmem8b	A	T	4: 43,674,465 (GRCm39)	I250F	probably damaging	Het
Tom1l2	A	G	11: 60,139,817 (GRCm39)	V239A	probably damaging	Het
Trpm1	T	A	7: 63,893,181 (GRCm39)	M1011K	probably damaging	Het
Tspan9	A	T	6: 127,942,769 (GRCm39)	Y153N	probably benign	Het
Ttll11	T	C	2: 35,642,306 (GRCm39)	H675R	probably benign	Het
Unc50	C	T	1: 37,471,743 (GRCm39)	T131M	probably damaging	Het
Vgf	T	A	5: 137,061,206 (GRCm39)	I456N	probably damaging	Het
Vmn1r223	A	G	13: 23,433,483 (GRCm39)	I26V	unknown	Het
Vmn1r39	T	C	6: 66,782,205 (GRCm39)	M1V	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r14	T	C	5: 109,363,925 (GRCm39)	T664A	probably benign	Het
Vmn2r14	G	A	5: 109,364,140 (GRCm39)	T592I	probably benign	Het
Vmn2r96	T	A	17: 18,817,891 (GRCm39)	F489L	probably benign	Het
Vmn2r-ps158	T	C	7: 42,697,393 (GRCm39)	F817L	possibly damaging	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
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
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'- GTGGCTCACATTCACAGCAC -3'
(R):5'- GGCAAGAGTCATCCTTCCATG -3'

Sequencing Primer
(F):5'- TTCACAGCACCCAAAATATCCAAGG -3'
(R):5'- TTATACCACGTCAAGGAGCG -3'

Posted On

2018-11-28