Mutagenetix > Incidental Mutation

Incidental Mutation 'R4749:Slc14a2'

357447

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

041969-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78189363-78640157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78198796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 778 (L778Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025434 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025434
AA Change: L778Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025434
Gene: ENSMUSG00000024552
AA Change: L778Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Adgra2	A	G	8: 27,604,225 (GRCm39)	K472E	probably damaging	Het
Akap9	A	G	5: 4,018,737 (GRCm39)	D1106G	probably benign	Het
Arhgap35	T	C	7: 16,232,551 (GRCm39)	E1367G	possibly damaging	Het
Arsi	A	T	18: 61,050,533 (GRCm39)	Y472F	probably benign	Het
Asxl3	A	G	18: 22,649,826 (GRCm39)	D605G	probably damaging	Het
Atp6v1e2	C	T	17: 87,252,135 (GRCm39)	D88N	probably benign	Het
BC061237	T	A	14: 44,743,469 (GRCm39)	V169E	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
C9	G	A	15: 6,519,311 (GRCm39)	V383I	probably benign	Het
Ccdc88a	A	G	11: 29,432,720 (GRCm39)	K222R	probably benign	Het
Ccna2	T	C	3: 36,620,391 (GRCm39)	S421G	probably benign	Het
Cflar	T	G	1: 58,779,431 (GRCm39)	V229G	possibly damaging	Het
Clcn1	A	G	6: 42,267,131 (GRCm39)		probably null	Het
Col14a1	T	A	15: 55,315,732 (GRCm39)	F1342L	unknown	Het
Colq	C	T	14: 31,251,472 (GRCm39)	R313H	possibly damaging	Het
Coro6	A	G	11: 77,359,974 (GRCm39)	E345G	probably damaging	Het
Cracd	T	C	5: 77,006,681 (GRCm39)	V1014A	unknown	Het
Cyb561	A	G	11: 105,826,708 (GRCm39)	F182L	probably benign	Het
Dap3	A	G	3: 88,833,617 (GRCm39)	S317P	probably benign	Het
Dnah9	G	A	11: 65,724,941 (GRCm39)	A4404V	probably damaging	Het
Dsg4	A	G	18: 20,579,888 (GRCm39)	E31G	possibly damaging	Het
Dsn1	G	A	2: 156,843,660 (GRCm39)	L147F	probably damaging	Het
Dysf	T	C	6: 84,043,990 (GRCm39)	V277A	probably damaging	Het
Eprs1	T	A	1: 185,128,327 (GRCm39)	I569K	probably damaging	Het
Erg	T	C	16: 95,162,029 (GRCm39)	N342S	probably damaging	Het
Fam114a1	G	A	5: 65,166,409 (GRCm39)	D247N	probably damaging	Het
Fat2	A	G	11: 55,202,294 (GRCm39)	V260A	probably benign	Het
Foxn4	T	C	5: 114,393,628 (GRCm39)	D497G	probably damaging	Het
Fsip2	A	G	2: 82,819,629 (GRCm39)	I5121V	probably benign	Het
Gcn1	T	A	5: 115,752,461 (GRCm39)	D2155E	probably benign	Het
Glra1	C	A	11: 55,427,210 (GRCm39)	D42Y	probably damaging	Het
Gpr171	A	G	3: 59,004,887 (GRCm39)	V296A	probably benign	Het
Grid1	T	A	14: 35,302,644 (GRCm39)	S970T	possibly damaging	Het
Hcn3	A	T	3: 89,057,370 (GRCm39)		probably null	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Hsd3b3	G	A	3: 98,649,931 (GRCm39)	P131S	probably damaging	Het
Hsp90b1	A	G	10: 86,537,672 (GRCm39)	V211A	probably damaging	Het
Htr2c	A	G	X: 145,976,793 (GRCm39)	T163A	probably benign	Het
Ifi208	T	A	1: 173,523,180 (GRCm39)	D483E	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,727 (GRCm39)	V474E	possibly damaging	Het
Kif21b	T	A	1: 136,072,487 (GRCm39)	Y64*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Map3k10	T	C	7: 27,357,786 (GRCm39)	D664G	possibly damaging	Het
Map3k5	C	A	10: 20,007,798 (GRCm39)	S1201Y	probably benign	Het
Mcm2	T	C	6: 88,868,973 (GRCm39)	E293G	possibly damaging	Het
Med21	T	A	6: 146,551,599 (GRCm39)		probably null	Het
Mettl18	T	C	1: 163,824,354 (GRCm39)	V225A	probably benign	Het
Mmp10	A	T	9: 7,508,169 (GRCm39)	I432F	probably damaging	Het
Muc5b	T	G	7: 141,415,185 (GRCm39)	Y2710*	probably null	Het
Neurl4	A	T	11: 69,801,894 (GRCm39)	I1282F	probably benign	Het
Nipbl	A	T	15: 8,395,313 (GRCm39)	H191Q	possibly damaging	Het
Nktr	A	G	9: 121,570,759 (GRCm39)	D167G	probably damaging	Het
Nrap	A	G	19: 56,368,669 (GRCm39)	I249T	probably damaging	Het
Nsfl1c	A	G	2: 151,351,526 (GRCm39)	T297A	probably benign	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Or1e1	G	A	11: 73,245,322 (GRCm39)	V248M	probably damaging	Het
Or4a39	C	T	2: 89,236,599 (GRCm39)	V275I	probably benign	Het
Or4k6	A	G	14: 50,476,190 (GRCm39)	S51P	probably damaging	Het
Or5b24	C	T	19: 12,912,581 (GRCm39)	H160Y	probably benign	Het
Or5d36	T	A	2: 87,900,956 (GRCm39)	I257L	probably benign	Het
Pcnx2	T	C	8: 126,614,327 (GRCm39)	S375G	probably damaging	Het
Pgap6	T	C	17: 26,335,757 (GRCm39)	F48S	probably damaging	Het
Phf2	A	T	13: 48,975,185 (GRCm39)		probably null	Het
Piezo1	A	T	8: 123,213,678 (GRCm39)	M1739K	possibly damaging	Het
Piezo1	G	T	8: 123,224,945 (GRCm39)	Q654K	probably damaging	Het
Pml	C	T	9: 58,141,935 (GRCm39)	R299H	probably damaging	Het
Ppp3cb	A	T	14: 20,574,130 (GRCm39)	M236K	probably damaging	Het
Prkch	T	A	12: 73,739,734 (GRCm39)	C203S	probably damaging	Het
Prob1	C	T	18: 35,785,869 (GRCm39)	R795H	possibly damaging	Het
Prr22	G	C	17: 57,078,274 (GRCm39)	E142D	possibly damaging	Het
Prss56	C	A	1: 87,113,305 (GRCm39)	A211E	possibly damaging	Het
Qser1	A	C	2: 104,617,649 (GRCm39)	S1054R	probably benign	Het
Rhbdl2	T	C	4: 123,720,694 (GRCm39)		probably null	Het
Rhot2	C	A	17: 26,063,248 (GRCm39)	G19V	probably damaging	Het
Rp1l1	C	T	14: 64,267,249 (GRCm39)	T945M	probably damaging	Het
Ryr3	T	C	2: 112,794,750 (GRCm39)	T121A	possibly damaging	Het
Sdad1	C	T	5: 92,452,836 (GRCm39)	R134Q	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sharpin	T	A	15: 76,231,767 (GRCm39)	D314V	probably damaging	Het
Slc29a3	A	G	10: 60,552,105 (GRCm39)	V313A	probably benign	Het
Slc4a11	C	A	2: 130,532,787 (GRCm39)	R222L	probably damaging	Het
Slc7a10	C	T	7: 34,900,187 (GRCm39)	P502S	probably damaging	Het
Sort1	T	G	3: 108,263,639 (GRCm39)	Y812*	probably null	Het
Spata31d1b	G	A	13: 59,866,172 (GRCm39)	V1107M	probably damaging	Het
Tcp10b	G	A	17: 13,289,832 (GRCm39)		probably null	Het
Tnc	T	C	4: 63,913,876 (GRCm39)	D1312G	possibly damaging	Het
Tomm40l	G	A	1: 171,047,131 (GRCm39)	R296*	probably null	Het
Topors	A	T	4: 40,261,015 (GRCm39)	S756R	unknown	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Ube2o	T	C	11: 116,432,734 (GRCm39)	D744G	probably benign	Het
Vmn1r224	A	G	17: 20,640,013 (GRCm39)	I197V	probably benign	Het
Zc3h18	A	T	8: 123,110,382 (GRCm39)	D77V	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
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'- GAGTGCCCTCATAGAAGCAG -3'
(R):5'- CACTGTCATTGCTTGTGTATATACC -3'

Sequencing Primer
(F):5'- CCCTCATAGAAGCAGGGGGAG -3'
(R):5'- CCCCTGTCCAAAAAGAGTTAGTGTG -3'

Posted On

2015-11-11