Mutagenetix > Incidental Mutation

Incidental Mutation 'R7210:Sox2'

560980

Institutional Source

Beutler Lab

Gene Symbol

Sox2

Ensembl Gene

ENSMUSG00000074637

Gene Name

SRY (sex determining region Y)-box 2

Synonyms

Sox-2, lcc, ysb

MMRRC Submission

045239-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34704554-34706610 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34705306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 248 (S248P)

Ref Sequence

ENSEMBL: ENSMUSP00000096755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099151]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000099151
AA Change: S248P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096755
Gene: ENSMUSG00000074637
AA Change: S248P

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
HMG	42	112	1.8e-28	SMART
low complexity region	137	156	N/A	INTRINSIC
low complexity region	248	263	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in a similar gene in human have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (Sox2ot). [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations implant but fail to develop an egg cylinder or epiblast, and die shortly thereafter. Other mutations that affect only regulatory elements show circling behavior and deafness, inner ear defects, and a yellow coat color. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	A	11: 94,264,767 (GRCm39)	P194S	probably benign	Het
Ackr2	C	T	9: 121,737,943 (GRCm39)	A106V	possibly damaging	Het
Alg3	G	A	16: 20,424,644 (GRCm39)	P112L	unknown	Het
Areg	T	A	5: 91,288,764 (GRCm39)	Y23*	probably null	Het
Aspn	A	G	13: 49,719,967 (GRCm39)	T328A	probably benign	Het
B020011L13Rik	A	T	1: 117,729,241 (GRCm39)	E249D	possibly damaging	Het
Bptf	G	A	11: 106,945,290 (GRCm39)	Q2650*	probably null	Het
Btbd3	A	T	2: 138,125,664 (GRCm39)	R283W	probably damaging	Het
Cep131	T	C	11: 119,955,615 (GRCm39)	H1035R	probably damaging	Het
Cfap57	A	T	4: 118,433,900 (GRCm39)	Y959*	probably null	Het
Cnot1	T	C	8: 96,515,286 (GRCm39)	Y25C	probably damaging	Het
Crebbp	G	A	16: 3,902,121 (GRCm39)	H2373Y	possibly damaging	Het
Ctnna3	T	C	10: 64,086,547 (GRCm39)	L373P	probably damaging	Het
Cyp8b1	T	A	9: 121,744,246 (GRCm39)	D362V	probably damaging	Het
D630003M21Rik	T	A	2: 158,057,932 (GRCm39)		probably null	Het
Dpp6	T	C	5: 27,803,801 (GRCm39)	I249T	probably damaging	Het
Fam149b	T	G	14: 20,428,540 (GRCm39)	I475M	probably damaging	Het
Fat1	A	G	8: 45,476,540 (GRCm39)	Y1862C	probably damaging	Het
Fcrl5	A	T	3: 87,353,719 (GRCm39)	N355Y	possibly damaging	Het
Fgd6	C	T	10: 93,969,954 (GRCm39)	T1201I	probably damaging	Het
Fndc8	A	T	11: 82,788,692 (GRCm39)	D174V	probably damaging	Het
Gatb	A	G	3: 85,481,527 (GRCm39)	H26R	probably benign	Het
Gm37240	T	A	3: 84,405,114 (GRCm39)	T230S	probably benign	Het
Gria4	T	C	9: 4,464,135 (GRCm39)	Q609R	probably damaging	Het
Gse1	C	A	8: 120,957,441 (GRCm39)	T644K	unknown	Het
Ifit1bl1	T	G	19: 34,571,564 (GRCm39)	I298L	probably benign	Het
Il31ra	T	C	13: 112,686,034 (GRCm39)	D85G	possibly damaging	Het
Katnip	T	C	7: 125,471,411 (GRCm39)	V1504A	probably damaging	Het
Lyst	T	C	13: 13,831,568 (GRCm39)	L1664P	probably damaging	Het
Mrpl35	A	G	6: 71,794,722 (GRCm39)	L82S	possibly damaging	Het
Myo7b	G	A	18: 32,140,155 (GRCm39)	R212C	probably damaging	Het
Myom2	T	C	8: 15,154,114 (GRCm39)	V684A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nop58	G	T	1: 59,749,539 (GRCm39)		probably null	Het
Nudt13	T	A	14: 20,359,852 (GRCm39)	I193N	possibly damaging	Het
Nyap1	C	A	5: 137,736,244 (GRCm39)	R81L	probably damaging	Het
Or1e28-ps1	T	C	11: 73,615,699 (GRCm39)	I50M	possibly damaging	Het
Oxct2b	A	C	4: 123,010,069 (GRCm39)		probably benign	Het
Pcf11	C	T	7: 92,312,684 (GRCm39)	A230T	probably benign	Het
Phactr4	A	T	4: 132,085,582 (GRCm39)	*695R	probably null	Het
Pkd1	T	C	17: 24,794,840 (GRCm39)	S2176P	probably damaging	Het
Plch2	C	A	4: 155,093,543 (GRCm39)	R133L	probably damaging	Het
Ptprq	G	T	10: 107,521,032 (GRCm39)	N713K	probably damaging	Het
Ptrh2	A	T	11: 86,580,793 (GRCm39)	T137S	probably benign	Het
R3hdm1	A	G	1: 128,138,945 (GRCm39)	Y718C	possibly damaging	Het
Rftn1	T	A	17: 50,301,335 (GRCm39)	R505*	probably null	Het
Rps15a	A	G	7: 117,708,334 (GRCm39)	F128L	probably benign	Het
Slc25a25	A	T	2: 32,310,408 (GRCm39)	M177K	possibly damaging	Het
Smgc	C	A	15: 91,744,492 (GRCm39)	P631Q	probably damaging	Het
Sycp1	T	C	3: 102,760,808 (GRCm39)	K702E	probably damaging	Het
Tes	G	T	6: 17,104,761 (GRCm39)	C414F	probably damaging	Het
Tet1	A	T	10: 62,650,280 (GRCm39)	C14S	probably null	Het
Tle3	C	T	9: 61,319,587 (GRCm39)	P452S	probably damaging	Het
Tmc6	A	C	11: 117,666,670 (GRCm39)	L131R	possibly damaging	Het
Tnip3	C	T	6: 65,570,495 (GRCm39)	R30*	probably null	Het
Tnrc6b	G	T	15: 80,813,486 (GRCm39)	G1748W	probably damaging	Het
Ugt2b38	T	G	5: 87,558,284 (GRCm39)	D459A	probably damaging	Het
Zdhhc2	A	T	8: 40,920,480 (GRCm39)	R246S	probably damaging	Het
Zscan22	T	A	7: 12,640,748 (GRCm39)	C331S	probably damaging	Het

Other mutations in Sox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02578:Sox2	APN	3	34,704,745 (GRCm39)	missense	probably benign	0.37
IGL03397:Sox2	APN	3	34,704,686 (GRCm39)	missense	probably damaging	0.99
R1164:Sox2	UTSW	3	34,704,848 (GRCm39)	missense	probably damaging	1.00
R1667:Sox2	UTSW	3	34,704,568 (GRCm39)	missense	probably damaging	1.00
R1829:Sox2	UTSW	3	34,704,890 (GRCm39)	missense	probably damaging	0.99
R1925:Sox2	UTSW	3	34,704,820 (GRCm39)	nonsense	probably null
R2066:Sox2	UTSW	3	34,705,456 (GRCm39)	missense	possibly damaging	0.63
R4170:Sox2	UTSW	3	34,704,703 (GRCm39)	missense	probably damaging	0.99
R4585:Sox2	UTSW	3	34,705,193 (GRCm39)	missense	probably benign	0.02
R4586:Sox2	UTSW	3	34,705,193 (GRCm39)	missense	probably benign	0.02
R4703:Sox2	UTSW	3	34,704,862 (GRCm39)	missense	probably damaging	1.00
R5509:Sox2	UTSW	3	34,704,938 (GRCm39)	missense	probably damaging	0.98
R5549:Sox2	UTSW	3	34,705,142 (GRCm39)	missense	probably benign	0.01
R5637:Sox2	UTSW	3	34,704,677 (GRCm39)	missense	probably benign	0.03
R6494:Sox2	UTSW	3	34,705,246 (GRCm39)	missense	probably benign	0.01
R7117:Sox2	UTSW	3	34,705,075 (GRCm39)	missense	possibly damaging	0.95
R7365:Sox2	UTSW	3	34,705,121 (GRCm39)	missense	possibly damaging	0.60
R7798:Sox2	UTSW	3	34,704,791 (GRCm39)	missense	probably damaging	0.96
R7801:Sox2	UTSW	3	34,704,791 (GRCm39)	missense	probably damaging	0.96
R8684:Sox2	UTSW	3	34,705,016 (GRCm39)	missense	probably benign	0.00
R8889:Sox2	UTSW	3	34,705,129 (GRCm39)	missense	possibly damaging	0.66
R9013:Sox2	UTSW	3	34,704,746 (GRCm39)	missense	probably damaging	1.00
X0024:Sox2	UTSW	3	34,704,838 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGTACACGCTTCCCGGAG -3'
(R):5'- TTCTCCAGTTCGCAGTCCAG -3'

Sequencing Primer
(F):5'- GGCAGCTACAGCATGATGC -3'
(R):5'- AGTCCAGCCCTCACATGTG -3'

Posted On

2019-06-26