Mutagenetix > Incidental Mutation

Incidental Mutation 'R4921:Slc14a2'

378653

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

042523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78189363-78640157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78235403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 258 (A258E)

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: A258E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025434
Gene: ENSMUSG00000024552
AA Change: A258E

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

possibly damaging
Transcript: ENSMUST00000163367
AA Change: A120E

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126416
Gene: ENSMUSG00000024552
AA Change: A120E

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,662 (GRCm39)	N65K	probably benign	Het
Abcc9	T	C	6: 142,536,162 (GRCm39)	Y1524C	probably benign	Het
Acap1	A	G	11: 69,778,019 (GRCm39)	I102T	probably damaging	Het
Acvr2a	T	C	2: 48,783,553 (GRCm39)	V284A	possibly damaging	Het
Adam3	T	C	8: 25,174,630 (GRCm39)	M712V	probably benign	Het
Adck1	T	C	12: 88,407,908 (GRCm39)	V213A	probably benign	Het
Adgrl3	G	T	5: 81,659,957 (GRCm39)	W242L	probably damaging	Het
Alk	T	C	17: 72,211,310 (GRCm39)	T857A	probably benign	Het
Alms1	A	G	6: 85,605,528 (GRCm39)	T2393A	probably benign	Het
Ank3	C	T	10: 69,837,939 (GRCm39)	P240L	probably damaging	Het
Ankrd35	C	A	3: 96,592,140 (GRCm39)	L809M	possibly damaging	Het
Birc6	T	A	17: 74,957,094 (GRCm39)	L3690Q	probably damaging	Het
Bmp3	C	A	5: 99,019,920 (GRCm39)	F114L	probably damaging	Het
Cage1	G	A	13: 38,203,184 (GRCm39)	H627Y	probably benign	Het
Cars1	T	C	7: 143,123,212 (GRCm39)	D468G	probably damaging	Het
Ccdc148	T	C	2: 58,719,814 (GRCm39)	E487G	probably damaging	Het
Ccdc80	A	T	16: 44,938,530 (GRCm39)	I746F	probably damaging	Het
Ccl25	A	G	8: 4,403,913 (GRCm39)	Q119R	possibly damaging	Het
Cdh24	C	T	14: 54,870,672 (GRCm39)	D178N	probably damaging	Het
Cdk12	A	T	11: 98,113,513 (GRCm39)	T766S	unknown	Het
Chst15	T	A	7: 131,849,613 (GRCm39)	T443S	probably benign	Het
Cnbp	T	C	6: 87,822,128 (GRCm39)	D125G	possibly damaging	Het
Cntn2	A	T	1: 132,443,770 (GRCm39)	V1003E	possibly damaging	Het
Crct1	A	G	3: 92,922,132 (GRCm39)		probably benign	Het
Dand5	C	T	8: 85,543,113 (GRCm39)	C121Y	probably damaging	Het
Dmkn	A	T	7: 30,470,658 (GRCm39)	D382V	probably damaging	Het
Dnase2b	T	A	3: 146,299,196 (GRCm39)	T86S	probably damaging	Het
Dusp8	GCCACCACCACCACCACCACCACC	GCCACCACCACCACCACCACC	7: 141,635,891 (GRCm39)		probably benign	Het
Eef1akmt1	C	T	14: 57,788,089 (GRCm39)	V90M	probably damaging	Het
Egfl7	G	T	2: 26,480,992 (GRCm39)	W168L	probably benign	Het
Ep400	A	G	5: 110,813,676 (GRCm39)	C2908R	probably damaging	Het
Espl1	A	G	15: 102,223,676 (GRCm39)	K1076E	probably damaging	Het
Exoc4	A	G	6: 33,887,452 (GRCm39)	N747D	probably benign	Het
Fancm	T	C	12: 65,123,915 (GRCm39)	V191A	probably benign	Het
Fbxo17	A	G	7: 28,432,214 (GRCm39)	D97G	probably benign	Het
Fer1l6	G	T	15: 58,472,160 (GRCm39)		probably null	Het
Flt4	T	C	11: 49,517,970 (GRCm39)	W337R	probably damaging	Het
Fpr-rs7	T	C	17: 20,334,082 (GRCm39)	H136R	possibly damaging	Het
Frem3	T	A	8: 81,339,765 (GRCm39)	I686N	possibly damaging	Het
Galnt9	A	G	5: 110,725,315 (GRCm39)	K84R	probably damaging	Het
Gfm2	T	A	13: 97,312,184 (GRCm39)	M760K	probably damaging	Het
Glis3	T	C	19: 28,643,504 (GRCm39)	T13A	probably damaging	Het
H2-K2	A	G	17: 34,216,050 (GRCm39)	V323A	possibly damaging	Het
Hbb-bs	G	A	7: 103,475,927 (GRCm39)	A130V	probably damaging	Het
Herc2	T	A	7: 55,879,438 (GRCm39)	H4685Q	probably benign	Het
Ighv5-9-1	C	T	12: 113,699,914 (GRCm39)	R56H	possibly damaging	Het
Itgb4	A	G	11: 115,897,431 (GRCm39)	N1548S	probably benign	Het
Itpr3	T	C	17: 27,316,979 (GRCm39)	Y745H	probably damaging	Het
Kank3	G	T	17: 34,036,174 (GRCm39)	G14V	probably damaging	Het
Kif24	G	T	4: 41,394,329 (GRCm39)	S982Y	probably damaging	Het
Kifc5b	C	T	17: 27,139,997 (GRCm39)	R53W	probably damaging	Het
Krt39	A	G	11: 99,405,575 (GRCm39)	S442P	possibly damaging	Het
Lcat	G	A	8: 106,669,074 (GRCm39)	P67L	possibly damaging	Het
Maml2	T	C	9: 13,532,471 (GRCm39)	S562P	probably damaging	Het
Map3k8	G	A	18: 4,349,124 (GRCm39)	R65W	possibly damaging	Het
Mbd3	G	T	10: 80,231,410 (GRCm39)	R12S	probably damaging	Het
Msr1	T	C	8: 40,077,292 (GRCm39)	E106G	possibly damaging	Het
Myh4	T	A	11: 67,144,854 (GRCm39)	L1256Q	probably damaging	Het
Mypn	G	A	10: 62,983,715 (GRCm39)	T511M	possibly damaging	Het
Nub1	A	T	5: 24,906,467 (GRCm39)	N331I	probably benign	Het
Nup107	A	G	10: 117,606,416 (GRCm39)	V440A	possibly damaging	Het
Ofcc1	A	G	13: 40,367,993 (GRCm39)	F174L	probably benign	Het
Or10d5	A	C	9: 39,861,521 (GRCm39)	V182G	probably damaging	Het
Or52ab2	A	T	7: 102,969,750 (GRCm39)	N44I	probably damaging	Het
Or9q2	T	C	19: 13,772,829 (GRCm39)	I49V	probably benign	Het
Parp2	C	A	14: 51,056,725 (GRCm39)	L310I	probably damaging	Het
Pcdh20	A	G	14: 88,707,162 (GRCm39)	V46A	probably benign	Het
Pcdhgb6	A	G	18: 37,876,525 (GRCm39)	D411G	probably damaging	Het
Pkd1l2	T	C	8: 117,781,624 (GRCm39)	E807G	probably benign	Het
Pkd1l2	A	T	8: 117,799,288 (GRCm39)	N267K	probably damaging	Het
Pramel24	A	T	4: 143,454,896 (GRCm39)	K398M	possibly damaging	Het
Rell1	C	A	5: 64,093,376 (GRCm39)	M126I	probably damaging	Het
Robo4	G	A	9: 37,313,856 (GRCm39)	E36K	probably benign	Het
Rpgrip1l	T	C	8: 91,987,637 (GRCm39)	S807G	probably benign	Het
Rpl10a	T	C	17: 28,549,826 (GRCm39)	V169A	probably benign	Het
Rubcn	C	T	16: 32,667,664 (GRCm39)	V166I	probably damaging	Het
Sall2	T	C	14: 52,552,850 (GRCm39)	E113G	possibly damaging	Het
Sars2	T	C	7: 28,451,863 (GRCm39)	S423P	possibly damaging	Het
Scaper	A	G	9: 55,799,519 (GRCm39)	I182T	probably benign	Het
Selp	A	G	1: 163,968,966 (GRCm39)	D522G	possibly damaging	Het
Sema4b	T	A	7: 79,848,504 (GRCm39)	I35N	possibly damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm39)	F268I	probably damaging	Het
Slc17a9	T	C	2: 180,377,742 (GRCm39)	Y213H	probably benign	Het
Slc22a7	T	G	17: 46,747,859 (GRCm39)	I233L	probably benign	Het
Slc35f1	A	G	10: 52,938,698 (GRCm39)	Q210R	probably damaging	Het
Slc6a21	A	G	7: 44,937,734 (GRCm39)	E350G	possibly damaging	Het
Spata21	A	T	4: 140,839,402 (GRCm39)	D639V	probably damaging	Het
Svil	A	G	18: 5,108,631 (GRCm39)	D1519G	probably damaging	Het
Tbccd1	T	C	16: 22,660,649 (GRCm39)	T56A	probably benign	Het
Tigit	A	T	16: 43,482,380 (GRCm39)	I118N	probably damaging	Het
Tlr11	A	T	14: 50,600,342 (GRCm39)	Q776L	possibly damaging	Het
Tspan12	A	C	6: 21,835,448 (GRCm39)	I9S	possibly damaging	Het
Unc5c	T	A	3: 141,494,727 (GRCm39)	Y347N	probably damaging	Het
Unk	A	G	11: 115,945,771 (GRCm39)	T481A	probably benign	Het
Vmn1r192	A	C	13: 22,371,650 (GRCm39)	V190G	probably damaging	Het
Vnn3	A	T	10: 23,740,473 (GRCm39)	M259L	probably benign	Het
Zan	T	C	5: 137,406,632 (GRCm39)		probably benign	Het
Zdhhc6	T	C	19: 55,301,642 (GRCm39)	H113R	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
R4300: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
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'- TCATCTGATGTCTGTTGAAGGACAG -3'
(R):5'- GTGAACCACTAGAATCCCAAGGG -3'

Sequencing Primer
(F):5'- TGTTGAAGGACAGAATGTATAAGATG -3'
(R):5'- GACCGGGGATGGTAGACATTC -3'

Posted On

2016-04-15