Mutagenetix > Incidental Mutation

Incidental Mutation 'R9210:Sh2d2a'

698767

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

068983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87754062-87763029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87756655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 167 (L167I)

Ref Sequence

ENSEMBL: ENSMUSP00000103207 (fasta)

Gene Model

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

AlphaFold

Q9QXK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000029709
AA Change: L167I

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

SMART Domains

Protein: ENSMUSP00000029709
Gene: ENSMUSG00000028071
AA Change: L167I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107581
AA Change: L167I

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

SMART Domains

Protein: ENSMUSP00000103207
Gene: ENSMUSG00000028071
AA Change: L167I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (74/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,287,165 (GRCm39)	D40G	probably damaging	Het
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Acod1	T	C	14: 103,292,526 (GRCm39)	V350A	possibly damaging	Het
Acot2	C	A	12: 84,034,851 (GRCm39)	P59Q	probably damaging	Het
Acyp1	A	T	12: 85,326,820 (GRCm39)	V10E	possibly damaging	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Agbl3	C	T	6: 34,775,177 (GRCm39)	T161I	probably damaging	Het
Ang6	T	C	14: 44,239,407 (GRCm39)	N107S	probably benign	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Arpc5	A	G	1: 152,642,603 (GRCm39)	D43G	probably null	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
Atp7b	T	C	8: 22,487,406 (GRCm39)	D1303G	probably damaging	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Catsper1	T	A	19: 5,391,535 (GRCm39)	V639E	probably benign	Het
Cbr1b	A	C	16: 93,427,127 (GRCm39)	S243R	possibly damaging	Het
Ccdc113	T	C	8: 96,283,874 (GRCm39)	F316S	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Cnn2	A	T	10: 79,828,373 (GRCm39)	M117L	probably benign	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Csgalnact1	T	C	8: 68,914,241 (GRCm39)		probably benign	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Dnaaf2	G	A	12: 69,244,602 (GRCm39)	A153V	probably damaging	Het
Egfem1	T	G	3: 29,207,743 (GRCm39)	C144W	probably damaging	Het
Ercc6	T	A	14: 32,291,822 (GRCm39)	I1062N	probably benign	Het
Ermap	A	T	4: 119,035,706 (GRCm39)	C427*	probably null	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fbxl14	T	C	6: 119,457,635 (GRCm39)	M272T	probably benign	Het
Grm7	T	A	6: 110,622,869 (GRCm39)	M14K	probably benign	Het
Herc6	A	G	6: 57,639,350 (GRCm39)	Y906C	probably damaging	Het
Hps4	C	A	5: 112,497,227 (GRCm39)	T70N	possibly damaging	Het
Hspg2	A	G	4: 137,289,790 (GRCm39)	H3880R	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Igkv13-84	G	T	6: 68,916,886 (GRCm39)	G61V	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Mtus2	T	A	5: 148,014,124 (GRCm39)	S306T	probably benign	Het
Ncl	G	A	1: 86,280,239 (GRCm39)	P523S	probably benign	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Ntng1	A	T	3: 109,779,633 (GRCm39)	C315S	probably damaging	Het
Nyap2	C	T	1: 81,219,042 (GRCm39)	P355S	probably damaging	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Pck2	G	A	14: 55,779,907 (GRCm39)	R52H	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Pink1	A	G	4: 138,053,278 (GRCm39)	F85L	probably benign	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Prkg2	T	C	5: 99,095,333 (GRCm39)	T613A	probably damaging	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rag1	T	C	2: 101,474,852 (GRCm39)	S97G	probably benign	Het
Rai1	C	T	11: 60,080,217 (GRCm39)	P1427L	probably benign	Het
Rrp15	G	C	1: 186,471,922 (GRCm39)	A95G	probably damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Scoc	T	C	8: 84,162,543 (GRCm39)	K121R	possibly damaging	Het
Septin5	A	T	16: 18,442,961 (GRCm39)	I206K	possibly damaging	Het
Slc5a2	C	A	7: 127,867,939 (GRCm39)	Q202K	probably damaging	Het
Slco4a1	A	T	2: 180,114,271 (GRCm39)	S518C	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,183 (GRCm39)	L932Q	possibly damaging	Het
Tex15	T	A	8: 34,064,319 (GRCm39)	Y1250N	possibly damaging	Het
Tln1	G	T	4: 43,536,119 (GRCm39)	T2022K	probably damaging	Het
Trpc4	T	A	3: 54,173,741 (GRCm39)	F378L	probably benign	Het
Ush2a	A	T	1: 188,516,866 (GRCm39)	Q3192L	probably null	Het
Usp40	A	T	1: 87,885,035 (GRCm39)	W938R	possibly damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	probably benign	Het
Zmiz2	T	A	11: 6,346,277 (GRCm39)	S71T	possibly damaging	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
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
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'- TTCGTGCTGTCCTACAGGTGAG -3'
(R):5'- AGTAACTTGGACCTGGTGGG -3'

Sequencing Primer
(F):5'- AGTCCTCGTTGACCAGCTG -3'
(R):5'- GGATGTAGTGGCGGCGAC -3'

Posted On

2022-02-07