Mutagenetix > Incidental Mutation

Incidental Mutation 'R9541:Slc22a7'

719898

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R9541 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46743109-46749383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46749084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 78 (S78G)

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

probably damaging
Transcript: ENSMUST00000087012
AA Change: S78G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084234
Gene: ENSMUSG00000067144
AA Change: S78G

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,801,079 (GRCm39)	I450V	probably benign	Het
Adam21	T	C	12: 81,607,724 (GRCm39)	T13A	probably benign	Het
Adamts4	C	A	1: 171,084,695 (GRCm39)	P644H	probably damaging	Het
Ak9	C	T	10: 41,243,173 (GRCm39)	A689V		Het
Ankhd1	G	A	18: 36,757,697 (GRCm39)	S209N		Het
Anks1b	A	T	10: 90,412,947 (GRCm39)	T32S	probably benign	Het
Atp13a4	G	T	16: 29,241,544 (GRCm39)	T708K		Het
B4gat1	C	T	19: 5,089,896 (GRCm39)	P298S	probably damaging	Het
Btbd9	A	G	17: 30,439,438 (GRCm39)	L583P	possibly damaging	Het
Ciart	C	A	3: 95,788,527 (GRCm39)	C104F	possibly damaging	Het
Coq5	T	C	5: 115,417,901 (GRCm39)	S44P	probably benign	Het
Dennd5b	A	G	6: 148,899,872 (GRCm39)	V1175A	probably benign	Het
Filip1	T	A	9: 79,727,135 (GRCm39)	K495*	probably null	Het
Fscn2	G	A	11: 120,258,771 (GRCm39)	V439M	probably damaging	Het
Gcn1	A	G	5: 115,754,416 (GRCm39)	I2339V	probably benign	Het
Gmppa	T	A	1: 75,417,094 (GRCm39)	S176R	probably damaging	Het
Gpatch3	G	A	4: 133,305,595 (GRCm39)	E277K	probably benign	Het
Hcn4	A	G	9: 58,767,685 (GRCm39)	D1082G	probably damaging	Het
Hdgfl2	T	A	17: 56,405,976 (GRCm39)	D487E	unknown	Het
Ifna14	A	T	4: 88,490,010 (GRCm39)	M9K	probably null	Het
Igkv4-81	A	G	6: 68,967,925 (GRCm39)	Y59H		Het
Il2rb	T	A	15: 78,372,393 (GRCm39)	N108I	probably benign	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Kdm5d	T	G	Y: 910,801 (GRCm39)	C304W	probably damaging	Het
Khnyn	T	C	14: 56,124,109 (GRCm39)	I121T	possibly damaging	Het
Lmcd1	A	T	6: 112,306,824 (GRCm39)	H332L	probably damaging	Het
Lrp1b	T	C	2: 41,234,600 (GRCm39)	D1117G		Het
Med25	A	G	7: 44,541,267 (GRCm39)	V82A	possibly damaging	Het
Mindy2	G	A	9: 70,512,508 (GRCm39)	R581C	possibly damaging	Het
Mindy3	T	C	2: 12,391,449 (GRCm39)	T257A	probably damaging	Het
Myo1e	A	T	9: 70,204,628 (GRCm39)	Y76F	probably damaging	Het
Npas2	A	T	1: 39,377,194 (GRCm39)	I519F	possibly damaging	Het
Or2h2c	C	T	17: 37,422,824 (GRCm39)	D17N	probably benign	Het
Or4f52	T	A	2: 111,061,275 (GRCm39)	T288S	probably damaging	Het
Or5ak25	T	A	2: 85,269,025 (GRCm39)	H159L	possibly damaging	Het
Otx1	A	G	11: 21,947,052 (GRCm39)	F86L	probably damaging	Het
Pcm1	A	G	8: 41,780,616 (GRCm39)	D1856G	probably benign	Het
Pcsk7	G	A	9: 45,820,768 (GRCm39)	E67K	probably benign	Het
Pkd2	A	G	5: 104,607,927 (GRCm39)	Y142C	probably damaging	Het
Ptpre	A	G	7: 135,266,740 (GRCm39)	D236G	probably benign	Het
Rasd2	T	C	8: 75,945,200 (GRCm39)	C10R	probably benign	Het
Rd3	C	A	1: 191,717,294 (GRCm39)	R140S	possibly damaging	Het
Rusc1	T	G	3: 88,998,922 (GRCm39)	T287P	possibly damaging	Het
Sltm	A	T	9: 70,481,057 (GRCm39)	H303L	unknown	Het
Syne4	G	A	7: 30,016,343 (GRCm39)	V228I	probably benign	Het
Timm22	T	A	11: 76,300,641 (GRCm39)	C138S	possibly damaging	Het
Trib2	T	A	12: 15,866,827 (GRCm39)	I15L	unknown	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tyro3	T	C	2: 119,642,589 (GRCm39)	V591A	possibly damaging	Het
Vmn2r69	A	G	7: 85,056,209 (GRCm39)	V643A	probably benign	Het
Zfp281	G	T	1: 136,555,303 (GRCm39)	Q760H	probably 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
R0755:Slc22a7	UTSW	17	46,749,113 (GRCm39)	missense	possibly damaging	0.93
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

Predicted Primers

PCR Primer
(F):5'- AAGGTAATGGCTGGCTCAAC -3'
(R):5'- AACTGCGGAATCTGGTGCTG -3'

Sequencing Primer
(F):5'- TAATGGCTGGCTCAACCCACTC -3'
(R):5'- AATCTGGTGCTGCTGGCC -3'

Posted On

2022-07-18