Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Sh2d2a'

48617

Institutional Source

Beutler Lab

Gene Symbol

Sh2d2a

Ensembl Gene

ENSMUSG00000028071

Gene Name

SH2 domain containing 2A

Synonyms

Rlk/Itk-binding protein, Lad, Lck-associated adapter protein, TSAd, RIBP

MMRRC Submission

038715-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R0522 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

87754062-87763029 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 87754416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029709] [ENSMUST00000107581]

AlphaFold

Q9QXK9

Predicted Effect

probably null
Transcript: ENSMUST00000029709

SMART Domains

Protein: ENSMUSP00000029709
Gene: ENSMUSG00000028071

Domain	Start	End	E-Value	Type
SH2	114	197	2.31e-23	SMART
low complexity region	235	249	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107581

SMART Domains

Protein: ENSMUSP00000103207
Gene: ENSMUSG00000028071

Domain	Start	End	E-Value	Type
SH2	114	197	2.31e-23	SMART
low complexity region	235	249	N/A	INTRINSIC
Blast:SH2	281	316	9e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194639

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: While T cell development is normal, T cell proliferation in response to TCR-mediated activation is impaired in homozygous null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	A	G	8: 84,456,805 (GRCm39)	I192T	probably benign	Het
Adgrl3	T	C	5: 81,874,648 (GRCm39)	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,676,561 (GRCm39)		probably benign	Het
Alms1	T	C	6: 85,598,597 (GRCm39)	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,472,189 (GRCm39)		probably benign	Het
C2cd3	A	G	7: 100,044,429 (GRCm39)	N337S	probably benign	Het
Cdc40	T	C	10: 40,733,608 (GRCm39)	Y114C	probably benign	Het
Cdhr1	A	T	14: 36,815,957 (GRCm39)		probably null	Het
Cfc1	G	A	1: 34,576,234 (GRCm39)	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,723,533 (GRCm39)		probably benign	Het
Cyth4	C	A	15: 78,499,985 (GRCm39)	H255Q	possibly damaging	Het
Degs1l	A	C	1: 180,887,312 (GRCm39)	D299A	probably damaging	Het
Dip2a	T	C	10: 76,157,365 (GRCm39)	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083 (GRCm39)	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,438,565 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,458,430 (GRCm39)	V81E	probably damaging	Het
F5	T	C	1: 164,039,332 (GRCm39)	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,178,400 (GRCm39)	M309L	probably benign	Het
Gm14221	G	A	2: 160,416,597 (GRCm39)		noncoding transcript	Het
Gnptab	T	A	10: 88,267,328 (GRCm39)		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,735,567 (GRCm39)		probably null	Het
Gpr176	A	G	2: 118,114,493 (GRCm39)	C106R	probably damaging	Het
Hdac7	A	T	15: 97,704,560 (GRCm39)		probably null	Het
Hlx	T	C	1: 184,463,837 (GRCm39)	S168G	probably damaging	Het
Hnf1a	G	T	5: 115,088,747 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,949,472 (GRCm39)	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,512,086 (GRCm39)	T63S	probably damaging	Het
Insrr	C	T	3: 87,708,179 (GRCm39)	S207F	probably damaging	Het
Jak3	C	A	8: 72,134,918 (GRCm39)		probably benign	Het
Jmjd7	G	A	2: 119,860,822 (GRCm39)	A91T	probably damaging	Het
Lgals9	G	T	11: 78,856,638 (GRCm39)	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 102,997,638 (GRCm39)	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837 (GRCm39)	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,439,123 (GRCm39)	T194A	probably damaging	Het
Nek5	T	A	8: 22,578,813 (GRCm39)		probably benign	Het
Pcgf2	A	C	11: 97,582,873 (GRCm39)	I135M	probably benign	Het
Phactr1	G	T	13: 43,213,067 (GRCm39)	A222S	probably benign	Het
Pla2r1	T	C	2: 60,309,859 (GRCm39)	S575G	probably benign	Het
Plcg2	T	C	8: 118,341,027 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Polg	A	G	7: 79,109,899 (GRCm39)		probably benign	Het
Poteg	T	G	8: 27,939,986 (GRCm39)	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,631,203 (GRCm39)	C50S	probably benign	Het
Prx	T	A	7: 27,217,620 (GRCm39)	V707E	probably damaging	Het
Rrp12	C	T	19: 41,863,144 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,363,340 (GRCm39)	V381E	probably damaging	Het
Slc26a5	A	C	5: 22,051,343 (GRCm39)	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,532,412 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,926,534 (GRCm39)	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010 (GRCm39)	I260V	probably benign	Het
Smg8	A	T	11: 86,977,288 (GRCm39)	S98T	probably benign	Het
Spart	T	A	3: 55,035,786 (GRCm39)	S548R	probably damaging	Het
Sult6b1	C	T	17: 79,212,958 (GRCm39)	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806 (GRCm39)	Y77H	probably damaging	Het
Tet2	T	A	3: 133,172,565 (GRCm39)	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Uap1l1	T	C	2: 25,253,289 (GRCm39)	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Ugt1a9	T	C	1: 87,999,114 (GRCm39)	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416 (GRCm39)		probably null	Het
Xrcc6	T	C	15: 81,906,793 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zfp804b	T	A	5: 6,822,014 (GRCm39)	T350S	probably benign	Het
Zfp959	G	T	17: 56,203,201 (GRCm39)	R61M	probably null	Het

Other mutations in Sh2d2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Sh2d2a	APN	3	87,759,136 (GRCm39)	missense	probably benign	0.00
IGL01563:Sh2d2a	APN	3	87,759,432 (GRCm39)	missense	probably damaging	1.00
R0178:Sh2d2a	UTSW	3	87,756,730 (GRCm39)	missense	probably benign	0.24
R0545:Sh2d2a	UTSW	3	87,759,195 (GRCm39)	splice site	probably benign
R1977:Sh2d2a	UTSW	3	87,759,123 (GRCm39)	nonsense	probably null
R3076:Sh2d2a	UTSW	3	87,759,477 (GRCm39)	missense	probably benign
R3684:Sh2d2a	UTSW	3	87,759,027 (GRCm39)	splice site	probably null
R4981:Sh2d2a	UTSW	3	87,756,728 (GRCm39)	missense	probably damaging	1.00
R5082:Sh2d2a	UTSW	3	87,759,091 (GRCm39)	missense	probably benign	0.12
R5315:Sh2d2a	UTSW	3	87,754,976 (GRCm39)	missense	probably damaging	1.00
R5789:Sh2d2a	UTSW	3	87,756,820 (GRCm39)	intron	probably benign
R7189:Sh2d2a	UTSW	3	87,755,668 (GRCm39)	missense	possibly damaging	0.50
R9180:Sh2d2a	UTSW	3	87,759,070 (GRCm39)	missense	possibly damaging	0.69
R9210:Sh2d2a	UTSW	3	87,756,655 (GRCm39)	missense	probably damaging	1.00
R9480:Sh2d2a	UTSW	3	87,759,638 (GRCm39)	missense	probably benign	0.01
R9661:Sh2d2a	UTSW	3	87,756,788 (GRCm39)	critical splice donor site	probably null
X0062:Sh2d2a	UTSW	3	87,755,070 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCCAGAGACAGGACTGGTGTGTTAC -3'
(R):5'- TCAAGGTGTTTCAAAGGGACTGGTG -3'

Sequencing Primer
(F):5'- GTTACTGCACTTTCCATGACG -3'
(R):5'- CCGTAGAGAGGTAGTCCCTTAG -3'

Posted On

2013-06-12