Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Sh2d2a'

44742

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

038737-MU

Accession Numbers

Essential gene?

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

Stock #

R0545 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

87754062-87763029 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 87759195 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 benign
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 benign
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

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,547,187 (GRCm39)	R76H	probably damaging	Het
Adnp2	T	C	18: 80,172,616 (GRCm39)	I598V	probably benign	Het
Ago3	T	C	4: 126,311,025 (GRCm39)	N63D	probably damaging	Het
Alkbh7	C	T	17: 57,306,012 (GRCm39)	R138*	probably null	Het
Atp6ap1l	T	C	13: 91,031,782 (GRCm39)	H300R	probably benign	Het
BC051076	C	T	5: 88,111,349 (GRCm39)		noncoding transcript	Het
Bltp1	G	A	3: 37,041,839 (GRCm39)		probably benign	Het
Bpifb9a	T	A	2: 154,103,870 (GRCm39)	C104*	probably null	Het
Cacna2d2	T	C	9: 107,402,422 (GRCm39)	L826P	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,913,447 (GRCm39)	D526G	probably damaging	Het
Cdh23	T	A	10: 60,167,070 (GRCm39)	T1861S	probably benign	Het
Ces2f	A	C	8: 105,676,668 (GRCm39)	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,929,536 (GRCm39)		probably benign	Het
Chpf2	T	C	5: 24,795,322 (GRCm39)	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Cma2	A	T	14: 56,210,570 (GRCm39)	M86L	probably benign	Het
Cog6	A	T	3: 52,903,496 (GRCm39)	M134K	probably damaging	Het
Col1a1	A	G	11: 94,842,420 (GRCm39)	D1446G	unknown	Het
Cpne8	T	A	15: 90,381,278 (GRCm39)	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,582,165 (GRCm39)	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,875,105 (GRCm39)	L16R	probably damaging	Het
Dysf	T	C	6: 84,076,443 (GRCm39)	S603P	probably damaging	Het
Epha5	A	G	5: 84,215,217 (GRCm39)		probably null	Het
Ercc3	T	C	18: 32,378,955 (GRCm39)	S270P	probably damaging	Het
F10	T	A	8: 13,098,249 (GRCm39)	C151S	probably damaging	Het
Gpr180	T	G	14: 118,397,458 (GRCm39)	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,091,633 (GRCm39)	E32G	possibly damaging	Het
Ikzf5	T	C	7: 130,994,229 (GRCm39)	T133A	possibly damaging	Het
Itch	G	T	2: 155,024,218 (GRCm39)	G274*	probably null	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Lama3	T	A	18: 12,694,758 (GRCm39)	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,719,987 (GRCm39)	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,077,328 (GRCm39)	D197G	probably benign	Het
Mfap2	A	G	4: 140,741,496 (GRCm39)		probably benign	Het
Mfhas1	A	G	8: 36,056,202 (GRCm39)	K226E	probably damaging	Het
Morc1	A	G	16: 48,386,020 (GRCm39)	R548G	probably benign	Het
Mrgprb5	T	C	7: 47,818,633 (GRCm39)	N34S	probably benign	Het
Mroh4	T	C	15: 74,497,276 (GRCm39)	T182A	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,074,319 (GRCm39)	F743L	possibly damaging	Het
Notch4	A	C	17: 34,802,407 (GRCm39)	D1276A	probably damaging	Het
Or1e34	A	T	11: 73,778,843 (GRCm39)	Y118*	probably null	Het
Or3a10	A	G	11: 73,935,873 (GRCm39)	C76R	possibly damaging	Het
Or6c209	T	A	10: 129,483,218 (GRCm39)	C74S	probably damaging	Het
Or6d15	T	A	6: 116,559,617 (GRCm39)	I97L	probably benign	Het
Plin4	T	A	17: 56,413,567 (GRCm39)	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357 (GRCm39)	T827A	probably benign	Het
Prlr	C	T	15: 10,317,652 (GRCm39)	T40I	probably damaging	Het
Psme3	T	C	11: 101,210,730 (GRCm39)		probably benign	Het
Pygb	A	T	2: 150,657,626 (GRCm39)	D363V	probably benign	Het
Rsph6a	C	T	7: 18,788,871 (GRCm39)	Q68*	probably null	Het
Serpini2	A	G	3: 75,165,445 (GRCm39)	V178A	probably benign	Het
Skint7	A	C	4: 111,837,395 (GRCm39)	M58L	probably benign	Het
Slco3a1	G	T	7: 73,970,301 (GRCm39)	Y435*	probably null	Het
Stk17b	T	C	1: 53,801,742 (GRCm39)		probably benign	Het
Tinag	T	A	9: 76,938,992 (GRCm39)	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,787,865 (GRCm39)	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,594,961 (GRCm39)	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,273,875 (GRCm39)	V41F	probably benign	Het
Washc5	C	T	15: 59,213,942 (GRCm39)	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,990,796 (GRCm39)	T352A	probably damaging	Het
Zan	A	C	5: 137,394,439 (GRCm39)	C4467G	unknown	Het
Zc3h7a	T	C	16: 10,970,197 (GRCm39)		probably benign	Het
Zfp729a	C	A	13: 67,768,345 (GRCm39)	C628F	probably benign	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
R0522:Sh2d2a	UTSW	3	87,754,416 (GRCm39)	critical splice donor site	probably null
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'- GGCAAGGACTCCTAAAGCCTAAAGC -3'
(R):5'- TGATGCAGTCGTGAAGCAGGAC -3'

Sequencing Primer
(F):5'- AAATGAGACTGTCTTGGCCC -3'
(R):5'- AGCAGGACTTGTATAGACTTCAG -3'

Posted On

2013-06-11