Mutagenetix > Incidental Mutation

Incidental Mutation 'R4300:Slc14a2'

322398

Institutional Source

Beutler Lab

Gene Symbol

Slc14a2

Ensembl Gene

ENSMUSG00000024552

Gene Name

solute carrier family 14 (urea transporter), member 2

Synonyms

UT-A5, UT-A3

MMRRC Submission

041657-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4300 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78189363-78640157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78250283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 62 (R62C)

Ref Sequence

ENSEMBL: ENSMUSP00000025434 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025434
AA Change: R62C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025434
Gene: ENSMUSG00000024552
AA Change: R62C

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (40/40)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	T	A	3: 146,356,675 (GRCm39)	R78*	probably null	Het
A2m	G	A	6: 121,650,434 (GRCm39)	V1181I	probably benign	Het
Cacna1b	T	C	2: 24,525,251 (GRCm39)	S1639G	probably damaging	Het
Ccs	T	C	19: 4,884,285 (GRCm39)	T56A	probably benign	Het
Cd177	T	C	7: 24,449,845 (GRCm39)	I547V	possibly damaging	Het
Ckmt2	C	A	13: 92,011,457 (GRCm39)		probably null	Het
Cyth1	A	G	11: 118,074,720 (GRCm39)	F180L	probably damaging	Het
Dip2c	A	G	13: 9,660,747 (GRCm39)	I840M	probably damaging	Het
Gm37150	G	A	9: 72,292,758 (GRCm39)		noncoding transcript	Het
Herc1	A	G	9: 66,396,688 (GRCm39)	D4255G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn4	G	T	7: 24,077,029 (GRCm39)	V193L	probably benign	Het
Lrrc8d	G	A	5: 105,961,606 (GRCm39)	R672Q	probably damaging	Het
Mboat2	A	G	12: 25,009,082 (GRCm39)	N463D	probably benign	Het
Mtfr1	T	A	3: 19,269,621 (GRCm39)		probably null	Het
Or10g6	A	C	9: 39,934,435 (GRCm39)	I249L	probably benign	Het
Or5h24	T	C	16: 58,918,641 (GRCm39)	Y238C	unknown	Het
Pcnt	G	C	10: 76,203,225 (GRCm39)	R2626G	probably benign	Het
Pik3cg	A	G	12: 32,226,671 (GRCm39)	I1072T	probably damaging	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Psph	G	T	5: 129,864,529 (GRCm39)		probably null	Het
Rfx4	T	C	10: 84,740,966 (GRCm39)	Y601H	probably damaging	Het
Rmc1	A	G	18: 12,321,919 (GRCm39)	N513D	probably benign	Het
Setd5	T	G	6: 113,127,123 (GRCm39)	V1249G	probably damaging	Het
Sirpb1b	A	T	3: 15,613,821 (GRCm39)	I87K	probably damaging	Het
Spata31	A	T	13: 65,067,575 (GRCm39)	H79L	probably benign	Het
Srbd1	C	A	17: 86,292,632 (GRCm39)	R979L	probably damaging	Het
Stox2	A	T	8: 47,647,027 (GRCm39)	Y208*	probably null	Het
Sun1	A	T	5: 139,213,349 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,369,224 (GRCm39)	D132G	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tubgcp3	G	T	8: 12,707,600 (GRCm39)	P130T	probably damaging	Het
Txlnb	A	G	10: 17,703,673 (GRCm39)	E277G	probably damaging	Het

Other mutations in Slc14a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Slc14a2	APN	18	78,193,653 (GRCm39)	missense	possibly damaging	0.65
IGL00763:Slc14a2	APN	18	78,235,453 (GRCm39)	missense	probably damaging	1.00
IGL01359:Slc14a2	APN	18	78,197,323 (GRCm39)	missense	probably benign	0.01
IGL01400:Slc14a2	APN	18	78,235,428 (GRCm39)	missense	probably damaging	1.00
IGL01450:Slc14a2	APN	18	78,226,745 (GRCm39)	missense	probably damaging	0.97
IGL01469:Slc14a2	APN	18	78,198,781 (GRCm39)	missense	probably damaging	0.98
IGL02231:Slc14a2	APN	18	78,252,236 (GRCm39)	missense	possibly damaging	0.92
IGL02340:Slc14a2	APN	18	78,206,341 (GRCm39)	missense	probably damaging	1.00
IGL02542:Slc14a2	APN	18	78,252,302 (GRCm39)	missense	probably benign
xi_ning	UTSW	18	78,238,962 (GRCm39)	missense	probably benign	0.01
IGL02991:Slc14a2	UTSW	18	78,249,049 (GRCm39)	start codon destroyed	probably null	0.77
R0131:Slc14a2	UTSW	18	78,235,338 (GRCm39)	missense	probably damaging	1.00
R0131:Slc14a2	UTSW	18	78,235,338 (GRCm39)	missense	probably damaging	1.00
R0132:Slc14a2	UTSW	18	78,235,338 (GRCm39)	missense	probably damaging	1.00
R0601:Slc14a2	UTSW	18	78,200,394 (GRCm39)	nonsense	probably null
R1677:Slc14a2	UTSW	18	78,206,419 (GRCm39)	missense	probably benign
R1749:Slc14a2	UTSW	18	78,190,295 (GRCm39)	missense	possibly damaging	0.67
R2014:Slc14a2	UTSW	18	78,193,601 (GRCm39)	splice site	probably benign
R2034:Slc14a2	UTSW	18	78,226,798 (GRCm39)	missense	probably damaging	0.99
R2264:Slc14a2	UTSW	18	78,206,304 (GRCm39)	splice site	probably benign
R2278:Slc14a2	UTSW	18	78,203,159 (GRCm39)	missense	probably benign	0.01
R2920:Slc14a2	UTSW	18	78,201,512 (GRCm39)	nonsense	probably null
R3878:Slc14a2	UTSW	18	78,202,289 (GRCm39)	missense	probably benign
R4086:Slc14a2	UTSW	18	78,248,998 (GRCm39)	missense	probably damaging	1.00
R4237:Slc14a2	UTSW	18	78,250,283 (GRCm39)	missense	probably damaging	1.00
R4238:Slc14a2	UTSW	18	78,250,283 (GRCm39)	missense	probably damaging	1.00
R4239:Slc14a2	UTSW	18	78,250,283 (GRCm39)	missense	probably damaging	1.00
R4373:Slc14a2	UTSW	18	78,250,283 (GRCm39)	missense	probably damaging	1.00
R4375:Slc14a2	UTSW	18	78,250,283 (GRCm39)	missense	probably damaging	1.00
R4376:Slc14a2	UTSW	18	78,250,283 (GRCm39)	missense	probably damaging	1.00
R4440:Slc14a2	UTSW	18	78,238,962 (GRCm39)	missense	probably benign	0.01
R4551:Slc14a2	UTSW	18	78,239,068 (GRCm39)	missense	probably benign	0.02
R4636:Slc14a2	UTSW	18	78,239,007 (GRCm39)	missense	possibly damaging	0.88
R4749:Slc14a2	UTSW	18	78,198,796 (GRCm39)	missense	probably damaging	1.00
R4921:Slc14a2	UTSW	18	78,235,403 (GRCm39)	missense	probably damaging	0.97
R4983:Slc14a2	UTSW	18	78,193,616 (GRCm39)	missense	probably damaging	0.98
R5114:Slc14a2	UTSW	18	78,238,963 (GRCm39)	missense	possibly damaging	0.62
R5164:Slc14a2	UTSW	18	78,200,487 (GRCm39)	missense	probably damaging	1.00
R5386:Slc14a2	UTSW	18	78,229,055 (GRCm39)	missense	possibly damaging	0.65
R5433:Slc14a2	UTSW	18	78,252,143 (GRCm39)	missense	probably damaging	1.00
R5558:Slc14a2	UTSW	18	78,202,381 (GRCm39)	missense	possibly damaging	0.94
R5571:Slc14a2	UTSW	18	78,252,282 (GRCm39)	missense	possibly damaging	0.73
R5693:Slc14a2	UTSW	18	78,190,229 (GRCm39)	missense	probably benign	0.23
R5715:Slc14a2	UTSW	18	78,201,551 (GRCm39)	missense	probably damaging	1.00
R5719:Slc14a2	UTSW	18	78,252,257 (GRCm39)	missense	probably benign	0.06
R6160:Slc14a2	UTSW	18	78,202,190 (GRCm39)	critical splice donor site	probably null
R6352:Slc14a2	UTSW	18	78,252,309 (GRCm39)	start codon destroyed	probably null
R6380:Slc14a2	UTSW	18	78,190,190 (GRCm39)	missense	probably benign	0.00
R6444:Slc14a2	UTSW	18	78,197,317 (GRCm39)	missense	probably damaging	0.98
R6480:Slc14a2	UTSW	18	78,202,297 (GRCm39)	missense	possibly damaging	0.80
R6732:Slc14a2	UTSW	18	78,235,389 (GRCm39)	missense	probably damaging	1.00
R7038:Slc14a2	UTSW	18	78,202,252 (GRCm39)	missense	probably damaging	0.98
R7553:Slc14a2	UTSW	18	78,198,803 (GRCm39)	missense	probably damaging	1.00
R7558:Slc14a2	UTSW	18	78,235,334 (GRCm39)	missense	probably benign	0.07
R7617:Slc14a2	UTSW	18	78,203,156 (GRCm39)	missense	probably benign
R7693:Slc14a2	UTSW	18	78,197,218 (GRCm39)	missense	possibly damaging	0.81
R7874:Slc14a2	UTSW	18	78,203,983 (GRCm39)	missense	probably benign	0.01
R8144:Slc14a2	UTSW	18	78,227,759 (GRCm39)	critical splice donor site	probably null
R9205:Slc14a2	UTSW	18	78,238,951 (GRCm39)	missense	probably benign	0.19
R9356:Slc14a2	UTSW	18	78,227,823 (GRCm39)	missense	probably null	0.02
Z1088:Slc14a2	UTSW	18	78,238,995 (GRCm39)	missense	probably damaging	1.00
Z1176:Slc14a2	UTSW	18	78,200,584 (GRCm39)	missense	possibly damaging	0.65
Z1176:Slc14a2	UTSW	18	78,200,583 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGACACTCACCTTTCAGC -3'
(R):5'- GTCCCCAAATGTCCCTATCAAG -3'

Sequencing Primer
(F):5'- GACACTCACCTTTCAGCCAGTTC -3'
(R):5'- CAAGTACTTATAATCCCAGCAGATG -3'

Posted On

2015-06-20