Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Slc14a2'

285706

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc14a2

Ensembl Gene

ENSMUSG00000024552

Gene Name

solute carrier family 14 (urea transporter), member 2

Synonyms

UT-A5, UT-A3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

78146940-78209094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78209021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 25 (S25N)

Ref Sequence

ENSEMBL: ENSMUSP00000025434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025434] [ENSMUST00000163367]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025434
AA Change: S25N

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025434
Gene: ENSMUSG00000024552
AA Change: S25N

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
low complexity region	31	43	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
Pfam:UT	128	423	1.9e-105	PFAM
low complexity region	460	471	N/A	INTRINSIC
Pfam:UT	591	886	7.5e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163367

SMART Domains

Protein: ENSMUSP00000126416
Gene: ENSMUSG00000024552

Domain	Start	End	E-Value	Type
Pfam:UT	1	292	3.4e-113	PFAM

Coding Region Coverage

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 belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mice lacking the collecting duct specific isoforms display decreased urea permeability and urine osmolality and increased urine flow. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Slc14a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Slc14a2	APN	18	78150438	missense	possibly damaging	0.65
IGL00763:Slc14a2	APN	18	78192238	missense	probably damaging	1.00
IGL01359:Slc14a2	APN	18	78154108	missense	probably benign	0.01
IGL01400:Slc14a2	APN	18	78192213	missense	probably damaging	1.00
IGL01450:Slc14a2	APN	18	78183530	missense	probably damaging	0.97
IGL01469:Slc14a2	APN	18	78155566	missense	probably damaging	0.98
IGL02340:Slc14a2	APN	18	78163126	missense	probably damaging	1.00
IGL02542:Slc14a2	APN	18	78209087	missense	probably benign
xi_ning	UTSW	18	78195747	missense	probably benign	0.01
IGL02991:Slc14a2	UTSW	18	78205834	start codon destroyed	probably null	0.77
R0131:Slc14a2	UTSW	18	78192123	missense	probably damaging	1.00
R0131:Slc14a2	UTSW	18	78192123	missense	probably damaging	1.00
R0132:Slc14a2	UTSW	18	78192123	missense	probably damaging	1.00
R0601:Slc14a2	UTSW	18	78157179	nonsense	probably null
R1677:Slc14a2	UTSW	18	78163204	missense	probably benign
R1749:Slc14a2	UTSW	18	78147080	missense	possibly damaging	0.67
R2014:Slc14a2	UTSW	18	78150386	splice site	probably benign
R2034:Slc14a2	UTSW	18	78183583	missense	probably damaging	0.99
R2264:Slc14a2	UTSW	18	78163089	splice site	probably benign
R2278:Slc14a2	UTSW	18	78159944	missense	probably benign	0.01
R2920:Slc14a2	UTSW	18	78158297	nonsense	probably null
R3878:Slc14a2	UTSW	18	78159074	missense	probably benign
R4086:Slc14a2	UTSW	18	78205783	missense	probably damaging	1.00
R4237:Slc14a2	UTSW	18	78207068	missense	probably damaging	1.00
R4238:Slc14a2	UTSW	18	78207068	missense	probably damaging	1.00
R4239:Slc14a2	UTSW	18	78207068	missense	probably damaging	1.00
R4300:Slc14a2	UTSW	18	78207068	missense	probably damaging	1.00
R4373:Slc14a2	UTSW	18	78207068	missense	probably damaging	1.00
R4375:Slc14a2	UTSW	18	78207068	missense	probably damaging	1.00
R4376:Slc14a2	UTSW	18	78207068	missense	probably damaging	1.00
R4440:Slc14a2	UTSW	18	78195747	missense	probably benign	0.01
R4551:Slc14a2	UTSW	18	78195853	missense	probably benign	0.02
R4636:Slc14a2	UTSW	18	78195792	missense	possibly damaging	0.88
R4749:Slc14a2	UTSW	18	78155581	missense	probably damaging	1.00
R4921:Slc14a2	UTSW	18	78192188	missense	probably damaging	0.97
R4983:Slc14a2	UTSW	18	78150401	missense	probably damaging	0.98
R5114:Slc14a2	UTSW	18	78195748	missense	possibly damaging	0.62
R5164:Slc14a2	UTSW	18	78157272	missense	probably damaging	1.00
R5386:Slc14a2	UTSW	18	78185840	missense	possibly damaging	0.65
R5433:Slc14a2	UTSW	18	78208928	missense	probably damaging	1.00
R5558:Slc14a2	UTSW	18	78159166	missense	possibly damaging	0.94
R5571:Slc14a2	UTSW	18	78209067	missense	possibly damaging	0.73
R5693:Slc14a2	UTSW	18	78147014	missense	probably benign	0.23
R5715:Slc14a2	UTSW	18	78158336	missense	probably damaging	1.00
R5719:Slc14a2	UTSW	18	78209042	missense	probably benign	0.06
R6160:Slc14a2	UTSW	18	78158975	critical splice donor site	probably null
R6352:Slc14a2	UTSW	18	78209094	start codon destroyed	probably null
R6380:Slc14a2	UTSW	18	78146975	missense	probably benign	0.00
R6444:Slc14a2	UTSW	18	78154102	missense	probably damaging	0.98
R6480:Slc14a2	UTSW	18	78159082	missense	possibly damaging	0.80
R6732:Slc14a2	UTSW	18	78192174	missense	probably damaging	1.00
R7038:Slc14a2	UTSW	18	78159037	missense	probably damaging	0.98
R7553:Slc14a2	UTSW	18	78155588	missense	probably damaging	1.00
R7558:Slc14a2	UTSW	18	78192119	missense	probably benign	0.07
R7617:Slc14a2	UTSW	18	78159941	missense	probably benign
R7693:Slc14a2	UTSW	18	78154003	missense	possibly damaging	0.81
R7874:Slc14a2	UTSW	18	78160768	missense	probably benign	0.01
R8144:Slc14a2	UTSW	18	78184544	critical splice donor site	probably null
R9205:Slc14a2	UTSW	18	78195736	missense	probably benign	0.19
R9356:Slc14a2	UTSW	18	78184608	missense	probably null	0.02
Z1088:Slc14a2	UTSW	18	78195780	missense	probably damaging	1.00
Z1176:Slc14a2	UTSW	18	78157368	missense	probably damaging	1.00
Z1176:Slc14a2	UTSW	18	78157369	missense	possibly damaging	0.65

Posted On

2015-04-16