Mutagenetix > Incidental Mutation

Incidental Mutation 'R7529:Slc26a2'

583237

Institutional Source

Beutler Lab

Gene Symbol

Slc26a2

Ensembl Gene

ENSMUSG00000034320

Gene Name

solute carrier family 26 (sulfate transporter), member 2

Synonyms

Dtd, ST-OB

MMRRC Submission

045601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R7529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61329926-61344668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61331430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 667 (L667P)

Ref Sequence

ENSEMBL: ENSMUSP00000119447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037603] [ENSMUST00000146409] [ENSMUST00000148829]

AlphaFold

Q62273

Predicted Effect

probably damaging
Transcript: ENSMUST00000037603
AA Change: L432P

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

SMART Domains

Protein: ENSMUSP00000040163
Gene: ENSMUSG00000034320
AA Change: L432P

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	1	279	5.8e-83	PFAM
low complexity region	317	330	N/A	INTRINSIC
Pfam:STAS	334	480	5.8e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146409
AA Change: L667P

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

SMART Domains

Protein: ENSMUSP00000119447
Gene: ENSMUSG00000034320
AA Change: L667P

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	108	518	1.8e-133	PFAM
low complexity region	552	565	N/A	INTRINSIC
Pfam:STAS	569	715	2.1e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148829

SMART Domains

Protein: ENSMUSP00000114419
Gene: ENSMUSG00000034320

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	93	176	1.1e-33	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit premature death, stunted growth, joint contractures, and skeletal dysplasia including kyphosis, shorter osteoporotic long bones, aberrant chondrocyte size, delayed endochondral bone ossification, and impairedchondrocyte proliferation and sulfate uptake. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	A	7: 127,836,336 (GRCm39)	K86*	probably null	Het
Ablim3	A	C	18: 61,955,039 (GRCm39)	S317A	probably benign	Het
Adcy1	T	C	11: 7,089,157 (GRCm39)	S524P	probably damaging	Het
Agps	C	A	2: 75,662,696 (GRCm39)	A47E	possibly damaging	Het
Arhgef15	G	T	11: 68,844,848 (GRCm39)	R250S	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atoh8	G	T	6: 72,200,825 (GRCm39)	D288E	probably benign	Het
B3galt2	A	C	1: 143,522,274 (GRCm39)	K137Q	probably benign	Het
Cacna2d4	G	A	6: 119,247,727 (GRCm39)	V343I	probably benign	Het
Cage1	T	C	13: 38,209,731 (GRCm39)	N82S	possibly damaging	Het
Cep350	A	G	1: 155,737,669 (GRCm39)	S2725P	probably benign	Het
Cfap65	T	C	1: 74,965,769 (GRCm39)	N414D	probably damaging	Het
Cgnl1	A	C	9: 71,539,040 (GRCm39)	L1154R	probably damaging	Het
Cmya5	A	T	13: 93,233,942 (GRCm39)	M382K	probably benign	Het
Dchs2	G	A	3: 83,261,705 (GRCm39)	V2658M	possibly damaging	Het
Dlgap5	T	C	14: 47,653,876 (GRCm39)	N51S	probably damaging	Het
Dnah17	A	G	11: 117,940,692 (GRCm39)		probably null	Het
Dnal1	A	G	12: 84,178,117 (GRCm39)	I35V	probably benign	Het
Dtnbp1	A	G	13: 45,084,546 (GRCm39)	F198S	probably damaging	Het
Edar	A	T	10: 58,447,830 (GRCm39)	S160T	probably benign	Het
Enpp3	A	T	10: 24,674,072 (GRCm39)	N409K	probably damaging	Het
Ercc6	T	A	14: 32,282,686 (GRCm39)	C726*	probably null	Het
Extl2	G	A	3: 115,821,055 (GRCm39)	V301I	possibly damaging	Het
G2e3	A	G	12: 51,418,387 (GRCm39)	Q594R	probably damaging	Het
Gal3st2c	A	G	1: 93,937,039 (GRCm39)	N328S	probably benign	Het
Galnt17	A	G	5: 131,335,218 (GRCm39)	V74A	probably damaging	Het
Ggta1	A	G	2: 35,304,256 (GRCm39)	W76R	probably damaging	Het
Gm9772	T	A	17: 22,226,140 (GRCm39)	D48V	probably benign	Het
Herpud2	T	C	9: 25,020,193 (GRCm39)	T388A	probably damaging	Het
Ighv5-9-1	A	G	12: 113,699,954 (GRCm39)	S53P	possibly damaging	Het
Il23r	T	A	6: 67,467,720 (GRCm39)	M16L	possibly damaging	Het
Ints1	G	A	5: 139,753,481 (GRCm39)	A717V	possibly damaging	Het
Itpr2	A	T	6: 146,096,096 (GRCm39)	L2122Q	probably damaging	Het
Klrg2	A	T	6: 38,607,266 (GRCm39)	V248E	probably damaging	Het
Krtap5-5	A	G	7: 141,783,429 (GRCm39)	C74R	unknown	Het
Luzp1	G	T	4: 136,268,243 (GRCm39)	L155F	probably damaging	Het
Mcam	T	C	9: 44,050,192 (GRCm39)	V209A	probably benign	Het
Med1	G	C	11: 98,046,791 (GRCm39)	T1335R	unknown	Het
Mroh2b	A	G	15: 4,978,491 (GRCm39)	I1346V	probably damaging	Het
Mrpl4	C	G	9: 20,918,975 (GRCm39)	Q201E	probably benign	Het
Muc21	A	T	17: 35,930,123 (GRCm39)	S1354R	unknown	Het
Mylk2	T	C	2: 152,757,624 (GRCm39)	L326P	probably damaging	Het
Myot	A	T	18: 44,479,240 (GRCm39)	R326*	probably null	Het
Nox3	T	A	17: 3,722,050 (GRCm39)	R288S	probably damaging	Het
Nox4	A	T	7: 87,044,976 (GRCm39)	Y572F	unknown	Het
Or2v2	A	G	11: 49,003,686 (GRCm39)	L289P	probably damaging	Het
Or5an10	A	G	19: 12,276,086 (GRCm39)	S137P	probably damaging	Het
Pcdhb15	G	T	18: 37,607,526 (GRCm39)	E253*	probably null	Het
Plcb2	T	C	2: 118,540,715 (GRCm39)	H1052R	probably damaging	Het
Plpp5	A	T	8: 26,214,233 (GRCm39)	Q250L	probably benign	Het
Plxna2	T	C	1: 194,326,179 (GRCm39)	Y38H	probably benign	Het
Pnpla8	A	G	12: 44,329,963 (GRCm39)	K172E	probably benign	Het
Pramel23	T	C	4: 143,429,244 (GRCm39)			Het
Prl8a9	T	A	13: 27,744,511 (GRCm39)	D110V	probably benign	Het
Prrx1	T	C	1: 163,081,533 (GRCm39)		probably null	Het
Prss52	T	A	14: 64,347,037 (GRCm39)	H70Q	probably benign	Het
Rcc1	T	C	4: 132,061,874 (GRCm39)	T300A	probably benign	Het
Rnf114	T	C	2: 167,349,014 (GRCm39)	V64A	possibly damaging	Het
Rnf168	T	C	16: 32,117,732 (GRCm39)	I431T	probably damaging	Het
Rnmt	A	G	18: 68,444,726 (GRCm39)	M232V	probably benign	Het
Rrs1	A	C	1: 9,616,417 (GRCm39)	Q223H	probably benign	Het
Scyl3	A	T	1: 163,771,438 (GRCm39)	L261F	probably damaging	Het
Slc24a4	A	T	12: 102,230,707 (GRCm39)	T533S	probably benign	Het
Snrnp40	T	A	4: 130,278,275 (GRCm39)	V260D	possibly damaging	Het
Snrpa	A	C	7: 26,888,878 (GRCm39)	M174R	probably benign	Het
Ss18l1	C	T	2: 179,699,950 (GRCm39)	A270V	possibly damaging	Het
Stk19	G	T	17: 35,043,632 (GRCm39)	Q193K	probably benign	Het
Syne1	T	A	10: 5,374,382 (GRCm39)	I142L	probably damaging	Het
Tbx2	T	C	11: 85,731,727 (GRCm39)	S675P	probably benign	Het
Tcaf1	A	G	6: 42,652,289 (GRCm39)	I731T	probably damaging	Het
Tg	G	T	15: 66,566,617 (GRCm39)	G1222W	probably damaging	Het
Tsc2	A	G	17: 24,816,922 (GRCm39)	F1581L	probably damaging	Het
Ubr4	G	C	4: 139,149,728 (GRCm39)	V520L	probably benign	Het
Wls	A	T	3: 159,578,644 (GRCm39)	N69Y	probably benign	Het
Wnk2	A	G	13: 49,254,457 (GRCm39)	F353L	possibly damaging	Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp64	C	T	2: 168,735,992 (GRCm39)	G562R	probably benign	Het
Zfp663	T	G	2: 165,194,728 (GRCm39)	E497A	probably damaging	Het
Zfp995	A	T	17: 22,099,333 (GRCm39)	C300*	probably null	Het

Other mutations in Slc26a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Slc26a2	APN	18	61,331,812 (GRCm39)	missense	probably benign	0.05
IGL01570:Slc26a2	APN	18	61,331,332 (GRCm39)	missense	possibly damaging	0.80
IGL01800:Slc26a2	APN	18	61,334,801 (GRCm39)	nonsense	probably null
IGL02131:Slc26a2	APN	18	61,331,884 (GRCm39)	missense	possibly damaging	0.69
IGL02277:Slc26a2	APN	18	61,332,052 (GRCm39)	missense	probably damaging	1.00
IGL02438:Slc26a2	APN	18	61,335,289 (GRCm39)	missense	possibly damaging	0.46
IGL03338:Slc26a2	APN	18	61,331,974 (GRCm39)	missense	probably damaging	1.00
IGL03377:Slc26a2	APN	18	61,331,658 (GRCm39)	missense	probably damaging	1.00
R0029:Slc26a2	UTSW	18	61,335,382 (GRCm39)	missense	possibly damaging	0.73
R0531:Slc26a2	UTSW	18	61,331,451 (GRCm39)	missense	probably damaging	1.00
R1929:Slc26a2	UTSW	18	61,331,650 (GRCm39)	missense	possibly damaging	0.69
R2115:Slc26a2	UTSW	18	61,331,896 (GRCm39)	missense	possibly damaging	0.71
R2272:Slc26a2	UTSW	18	61,331,650 (GRCm39)	missense	possibly damaging	0.69
R2921:Slc26a2	UTSW	18	61,335,007 (GRCm39)	missense	probably damaging	0.99
R4184:Slc26a2	UTSW	18	61,331,904 (GRCm39)	missense	probably benign	0.01
R4765:Slc26a2	UTSW	18	61,332,558 (GRCm39)	missense	probably damaging	0.97
R4812:Slc26a2	UTSW	18	61,335,093 (GRCm39)	missense	probably damaging	1.00
R4948:Slc26a2	UTSW	18	61,331,330 (GRCm39)	nonsense	probably null
R4960:Slc26a2	UTSW	18	61,331,875 (GRCm39)	missense	probably damaging	1.00
R5107:Slc26a2	UTSW	18	61,331,632 (GRCm39)	missense	probably damaging	1.00
R6120:Slc26a2	UTSW	18	61,332,489 (GRCm39)	missense	possibly damaging	0.64
R6147:Slc26a2	UTSW	18	61,334,757 (GRCm39)	missense	probably damaging	1.00
R6914:Slc26a2	UTSW	18	61,332,351 (GRCm39)	missense	probably damaging	0.97
R6996:Slc26a2	UTSW	18	61,334,926 (GRCm39)	missense	probably damaging	1.00
R7166:Slc26a2	UTSW	18	61,331,901 (GRCm39)	missense	possibly damaging	0.88
R7609:Slc26a2	UTSW	18	61,331,532 (GRCm39)	missense	probably benign	0.00
R7846:Slc26a2	UTSW	18	61,331,776 (GRCm39)	missense	probably benign	0.00
R8208:Slc26a2	UTSW	18	61,331,806 (GRCm39)	missense	probably damaging	1.00
R9066:Slc26a2	UTSW	18	61,335,130 (GRCm39)	missense	probably benign	0.01
R9490:Slc26a2	UTSW	18	61,331,881 (GRCm39)	missense	probably benign	0.05
R9752:Slc26a2	UTSW	18	61,335,010 (GRCm39)	missense	probably benign	0.11
X0003:Slc26a2	UTSW	18	61,332,267 (GRCm39)	missense	probably damaging	0.99
Z1177:Slc26a2	UTSW	18	61,332,609 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGAGACTCAGACCGTTG -3'
(R):5'- AACCCAGTCTTGGTAAAGGCAG -3'

Sequencing Primer
(F):5'- ACACACCCCTTTCTGATTCTGAGAG -3'
(R):5'- CAGTCTTGGTAAAGGCAGCTTGG -3'

Posted On

2019-10-17