Mutagenetix > Incidental Mutation

Incidental Mutation 'R0755:Slc22a7'

70483

Institutional Source

Beutler Lab

Gene Symbol

Slc22a7

Ensembl Gene

ENSMUSG00000067144

Gene Name

solute carrier family 22 (organic anion transporter), member 7

Synonyms

OAT2, NLT

MMRRC Submission

038935-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46743109-46749383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46749113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 68 (H68P)

Ref Sequence

ENSEMBL: ENSMUSP00000084234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047034] [ENSMUST00000087012] [ENSMUST00000166852]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047034

SMART Domains

Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	34	293	3.4e-21	PFAM
Pfam:Pkinase	34	305	1.7e-33	PFAM
low complexity region	320	334	N/A	INTRINSIC
low complexity region	371	395	N/A	INTRINSIC
low complexity region	570	593	N/A	INTRINSIC
low complexity region	611	624	N/A	INTRINSIC
low complexity region	633	653	N/A	INTRINSIC
low complexity region	697	709	N/A	INTRINSIC
coiled coil region	729	776	N/A	INTRINSIC
low complexity region	779	797	N/A	INTRINSIC
low complexity region	893	913	N/A	INTRINSIC
low complexity region	945	962	N/A	INTRINSIC
low complexity region	1090	1115	N/A	INTRINSIC
low complexity region	1236	1251	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087012
AA Change: H68P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084234
Gene: ENSMUSG00000067144
AA Change: H68P

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:MFS_1	82	479	1.2e-32	PFAM
Pfam:Sugar_tr	86	524	2.5e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166852

SMART Domains

Protein: ENSMUSP00000127966
Gene: ENSMUSG00000091742

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L5	10	59	4.1e-18	PFAM
Pfam:Ribosomal_L5_C	63	161	8.7e-25	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

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 is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,638 (GRCm39)		probably benign	Het
Acin1	A	G	14: 54,889,292 (GRCm39)	M1T	probably null	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Aldh1a1	A	G	19: 20,595,358 (GRCm39)	M96V	probably benign	Het
Ankfn1	T	A	11: 89,282,913 (GRCm39)	M245L	probably benign	Het
Arhgap19	T	C	19: 41,769,614 (GRCm39)	K54E	probably damaging	Het
Atp1a2	T	C	1: 172,116,948 (GRCm39)	Q223R	probably benign	Het
Atp8a2	C	T	14: 60,247,330 (GRCm39)	V557I	possibly damaging	Het
AU041133	A	T	10: 81,986,724 (GRCm39)	K126*	probably null	Het
Axin1	T	A	17: 26,401,480 (GRCm39)	Y351N	possibly damaging	Het
Baiap2l1	T	C	5: 144,221,367 (GRCm39)	K176E	probably damaging	Het
Baz2a	C	T	10: 127,955,560 (GRCm39)	T848I	possibly damaging	Het
Bbs2	A	C	8: 94,808,708 (GRCm39)	V333G	probably benign	Het
BC051019	G	A	7: 109,315,302 (GRCm39)	Q318*	probably null	Het
Bltp1	T	C	3: 37,000,513 (GRCm39)	S1231P	probably damaging	Het
Cdc37	C	T	9: 21,051,160 (GRCm39)	D362N	probably damaging	Het
Cep170	A	T	1: 176,583,319 (GRCm39)	V1020E	probably damaging	Het
Chrm4	T	C	2: 91,758,747 (GRCm39)	V385A	probably benign	Het
Cntrl	G	A	2: 35,035,151 (GRCm39)	S373N	probably damaging	Het
Col23a1	G	A	11: 51,467,706 (GRCm39)	G19D	probably damaging	Het
Cyb5r4	G	T	9: 86,911,625 (GRCm39)	A100S	probably damaging	Het
Dctn1	C	T	6: 83,166,059 (GRCm39)	P115S	probably damaging	Het
Dhrs2	C	T	14: 55,472,247 (GRCm39)	T46M	probably damaging	Het
Disp2	T	C	2: 118,620,243 (GRCm39)	F325S	probably benign	Het
Dnah11	T	G	12: 117,918,564 (GRCm39)	T3456P	possibly damaging	Het
Dnah11	C	A	12: 118,162,360 (GRCm39)	V70F	probably benign	Het
Duoxa1	T	A	2: 122,135,161 (GRCm39)	T195S	probably benign	Het
Dync2i1	T	C	12: 116,175,412 (GRCm39)	I922V	probably benign	Het
Eif2ak1	T	A	5: 143,821,742 (GRCm39)	F353I	possibly damaging	Het
Esam	A	G	9: 37,447,998 (GRCm39)	T211A	probably damaging	Het
Faf1	A	G	4: 109,819,036 (GRCm39)	N636S	probably benign	Het
Fbxo25	A	G	8: 13,985,219 (GRCm39)	Y305C	probably benign	Het
Fchsd1	C	T	18: 38,101,803 (GRCm39)		probably null	Het
Fdxacb1	T	A	9: 50,683,025 (GRCm39)	D329E	possibly damaging	Het
Gvin2	A	T	7: 105,545,892 (GRCm39)	F2387I	possibly damaging	Het
Hbq1b	A	T	11: 32,237,104 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,343,172 (GRCm39)	V4566E	probably damaging	Het
Igkv6-29	G	A	6: 70,116,053 (GRCm39)	T5I	probably benign	Het
Itfg1	A	T	8: 86,452,834 (GRCm39)	D511E	possibly damaging	Het
Jmjd1c	C	T	10: 66,932,378 (GRCm39)		probably benign	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Kdm4d	T	A	9: 14,375,591 (GRCm39)	K89M	probably damaging	Het
Krt19	A	T	11: 100,032,965 (GRCm39)	D194E	possibly damaging	Het
Lamc1	A	T	1: 153,123,196 (GRCm39)	Y665N	possibly damaging	Het
Lct	A	T	1: 128,221,872 (GRCm39)	S1556T	possibly damaging	Het
Macf1	A	G	4: 123,263,719 (GRCm39)	L4924P	probably damaging	Het
Mef2c	G	A	13: 83,804,472 (GRCm39)		probably null	Het
Mff	G	A	1: 82,728,326 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,412,230 (GRCm39)	L2581Q	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nos3	T	A	5: 24,572,295 (GRCm39)	L123M	probably damaging	Het
Ntn5	C	T	7: 45,335,952 (GRCm39)	P128S	probably benign	Het
Nudt9	T	C	5: 104,212,920 (GRCm39)	V331A	probably damaging	Het
Or2y3	A	T	17: 38,393,085 (GRCm39)	Y261*	probably null	Het
Or7g34	T	C	9: 19,478,415 (GRCm39)	I88M	possibly damaging	Het
Pcdh7	A	T	5: 57,877,664 (GRCm39)	K406N	possibly damaging	Het
Pkdrej	T	A	15: 85,700,336 (GRCm39)	I1867L	probably benign	Het
Plppr4	C	T	3: 117,116,319 (GRCm39)	G455R	possibly damaging	Het
Pramel11	A	G	4: 143,624,299 (GRCm39)	V66A	probably damaging	Het
Prkag2	G	C	5: 25,152,629 (GRCm39)	S158R	probably benign	Het
Ptprq	T	G	10: 107,418,400 (GRCm39)	T1659P	probably benign	Het
Rasl12	A	G	9: 65,318,241 (GRCm39)	K202E	probably benign	Het
Rb1	A	C	14: 73,434,653 (GRCm39)	*922G	probably null	Het
Rsf1	C	T	7: 97,229,174 (GRCm39)	P22S	probably damaging	Het
Scn1a	T	G	2: 66,151,379 (GRCm39)	T797P	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc4a2	G	A	5: 24,640,575 (GRCm39)	A652T	probably benign	Het
Slc5a1	T	A	5: 33,290,733 (GRCm39)	L106M	probably benign	Het
Slco1c1	C	T	6: 141,477,258 (GRCm39)	P19S	probably damaging	Het
Snx1	A	G	9: 66,005,738 (GRCm39)	F127S	probably damaging	Het
Snx31	A	T	15: 36,534,576 (GRCm39)	I199N	probably damaging	Het
Snx33	T	C	9: 56,832,741 (GRCm39)	I443V	possibly damaging	Het
Sptbn1	A	G	11: 30,089,016 (GRCm39)	F749L	probably damaging	Het
Stoml3	T	A	3: 53,405,559 (GRCm39)	Y53*	probably null	Het
Stxbp2	A	G	8: 3,692,019 (GRCm39)	T554A	probably benign	Het
Tal1	T	C	4: 114,925,573 (GRCm39)	I214T	probably damaging	Het
Tas2r140	T	A	6: 40,468,344 (GRCm39)	I58N	probably damaging	Het
Thap1	A	G	8: 26,648,501 (GRCm39)	Y8C	probably damaging	Het
Thsd7a	A	T	6: 12,555,368 (GRCm39)	L172Q	probably damaging	Het
Ube3c	T	A	5: 29,842,740 (GRCm39)	D735E	probably damaging	Het
Unc80	G	A	1: 66,544,082 (GRCm39)	D402N	probably damaging	Het
Upf1	G	T	8: 70,786,779 (GRCm39)	R902S	probably benign	Het
Urb1	A	G	16: 90,570,982 (GRCm39)	Y1276H	probably damaging	Het
Urb1	A	T	16: 90,576,026 (GRCm39)	F843L	probably benign	Het
Vmn1r198	C	T	13: 22,539,402 (GRCm39)	T296I	probably benign	Het
Vmn1r33	A	T	6: 66,588,892 (GRCm39)	S221T	probably damaging	Het
Vmn2r103	A	G	17: 19,993,830 (GRCm39)	D69G	probably benign	Het
Vmn2r14	T	G	5: 109,364,226 (GRCm39)	L563F	possibly damaging	Het
Vmn2r60	G	A	7: 41,844,869 (GRCm39)	G744D	probably damaging	Het
Vstm4	T	C	14: 32,614,601 (GRCm39)	V181A	probably damaging	Het
Wdr72	G	A	9: 74,052,376 (GRCm39)	V136I	probably benign	Het
Zfp236	T	A	18: 82,638,457 (GRCm39)	N1388Y	probably damaging	Het
Zfp53	T	A	17: 21,728,839 (GRCm39)	F291I	probably damaging	Het
Zfp944	A	T	17: 22,558,889 (GRCm39)	H119Q	possibly damaging	Het

Other mutations in Slc22a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Slc22a7	APN	17	46,748,920 (GRCm39)	splice site	probably null
R0898:Slc22a7	UTSW	17	46,744,075 (GRCm39)	missense	probably damaging	1.00
R1594:Slc22a7	UTSW	17	46,748,957 (GRCm39)	missense	possibly damaging	0.94
R1794:Slc22a7	UTSW	17	46,744,079 (GRCm39)	missense	probably damaging	1.00
R1900:Slc22a7	UTSW	17	46,749,157 (GRCm39)	missense	probably benign	0.00
R1973:Slc22a7	UTSW	17	46,748,016 (GRCm39)	missense	probably damaging	1.00
R2117:Slc22a7	UTSW	17	46,744,898 (GRCm39)	missense	possibly damaging	0.55
R4467:Slc22a7	UTSW	17	46,743,436 (GRCm39)	missense	probably benign
R4739:Slc22a7	UTSW	17	46,745,923 (GRCm39)	missense	probably damaging	1.00
R4921:Slc22a7	UTSW	17	46,747,859 (GRCm39)	missense	probably benign	0.00
R6982:Slc22a7	UTSW	17	46,745,563 (GRCm39)	missense	probably benign	0.02
R7122:Slc22a7	UTSW	17	46,749,224 (GRCm39)	missense	probably damaging	1.00
R7412:Slc22a7	UTSW	17	46,745,553 (GRCm39)	missense	probably benign	0.00
R7634:Slc22a7	UTSW	17	46,749,156 (GRCm39)	missense	probably benign	0.02
R8112:Slc22a7	UTSW	17	46,747,756 (GRCm39)	missense	probably benign	0.00
R8703:Slc22a7	UTSW	17	46,744,951 (GRCm39)	missense	probably damaging	0.98
R9117:Slc22a7	UTSW	17	46,748,029 (GRCm39)	missense	probably damaging	1.00
R9541:Slc22a7	UTSW	17	46,749,084 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCTCCACACGGGAATGAAAGTC -3'
(R):5'- TTCGAAGAGCTGCTGCACAAGG -3'

Sequencing Primer
(F):5'- AGTGCAAGAAGGTTCTCTCC -3'
(R):5'- TGCACAAGGTGGGTGGC -3'

Posted On

2013-09-30