Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Cd2bp2'

61562

Institutional Source

Beutler Lab

Gene Symbol

Cd2bp2

Ensembl Gene

ENSMUSG00000042502

Gene Name

CD2 antigen (cytoplasmic tail) binding protein 2

Synonyms

MMRRC Submission

038859-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.919) question?

Stock #

R0674 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

127191660-127196050 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127194836 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 94 (E94K)

Ref Sequence

ENSEMBL: ENSMUSP00000145779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035771] [ENSMUST00000120705] [ENSMUST00000166791] [ENSMUST00000205316] [ENSMUST00000205321] [ENSMUST00000205355] [ENSMUST00000206587] [ENSMUST00000206026] [ENSMUST00000206081]

AlphaFold

Q9CWK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000035771
AA Change: E94K

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

SMART Domains

Protein: ENSMUSP00000044790
Gene: ENSMUSG00000042502
AA Change: E94K

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
low complexity region	156	165	N/A	INTRINSIC
low complexity region	172	193	N/A	INTRINSIC
GYF	282	339	7.35e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120705

SMART Domains

Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492

Domain	Start	End	E-Value	Type
low complexity region	10	33	N/A	INTRINSIC
low complexity region	66	81	N/A	INTRINSIC
low complexity region	129	143	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	207	227	N/A	INTRINSIC
Blast:TBC	274	305	6e-10	BLAST
TBC	343	557	8.23e-57	SMART
low complexity region	632	678	N/A	INTRINSIC
coiled coil region	701	769	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153857

Predicted Effect

probably damaging
Transcript: ENSMUST00000166791
AA Change: E94K

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

SMART Domains

Protein: ENSMUSP00000132963
Gene: ENSMUSG00000042502
AA Change: E94K

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
low complexity region	156	165	N/A	INTRINSIC
low complexity region	172	193	N/A	INTRINSIC
GYF	282	339	7.35e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175164

Predicted Effect

probably damaging
Transcript: ENSMUST00000205316
AA Change: E94K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205321
AA Change: E94K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205355
AA Change: R73K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206587
AA Change: E94K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206026
AA Change: E94K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205525

Predicted Effect

probably benign
Transcript: ENSMUST00000206081

Predicted Effect

probably benign
Transcript: ENSMUST00000205620

Meta Mutation Damage Score

0.6612

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,044,626	V1134E	possibly damaging	Het
Adar	A	G	3: 89,749,823		probably benign	Het
Adgrl2	A	T	3: 148,837,679	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,248,350		probably benign	Het
Atp2a3	T	C	11: 72,981,885	I753T	probably damaging	Het
Bace2	G	A	16: 97,436,749	V467M	possibly damaging	Het
Ccser2	A	G	14: 36,918,591	C11R	possibly damaging	Het
Cd2ap	T	A	17: 42,845,392	I85F	possibly damaging	Het
Chrna3	C	A	9: 55,015,172	A451S	probably damaging	Het
Cmya5	C	A	13: 93,092,791	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,000,550	T2229A	probably benign	Het
Csrnp2	A	T	15: 100,487,991	L122H	probably damaging	Het
Cyp11b2	G	A	15: 74,855,544	P96L	probably damaging	Het
Ddr1	G	T	17: 35,689,669	S368*	probably null	Het
E2f1	T	C	2: 154,564,109	K115E	probably damaging	Het
Erlec1	A	T	11: 30,935,073		probably benign	Het
Fus	T	A	7: 127,972,776		probably benign	Het
Gml	G	A	15: 74,813,860	T92I	probably damaging	Het
Herc1	T	C	9: 66,501,192	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,198,841	S5P	probably benign	Het
Itgam	T	C	7: 128,116,218	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,236,260	N178I	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Luzp1	C	T	4: 136,543,457	T997I	possibly damaging	Het
Maml1	G	T	11: 50,258,058	Q952K	probably benign	Het
Map2	A	G	1: 66,413,202	E499G	probably damaging	Het
Map4k4	A	T	1: 40,003,815	H118L	probably damaging	Het
Myzap	T	C	9: 71,515,144	D382G	probably damaging	Het
Naip5	T	C	13: 100,223,199	T510A	probably benign	Het
Nek6	G	C	2: 38,558,904	G95R	possibly damaging	Het
Nphp3	T	C	9: 104,036,282		probably null	Het
Nr1d2	T	C	14: 18,215,086	S309G	probably benign	Het
Nrcam	A	T	12: 44,564,322	I570F	probably benign	Het
Oas1d	T	C	5: 120,919,986	I331T	probably benign	Het
Olfr1306	A	T	2: 111,912,673	F86I	probably benign	Het
Olfr65	T	C	7: 103,907,255	V272A	probably benign	Het
Olfr92	G	C	17: 37,111,455	L176V	probably benign	Het
Pex5l	A	T	3: 32,952,616	W535R	probably damaging	Het
Pisd	C	T	5: 32,774,437	R202H	probably benign	Het
Plxna2	A	G	1: 194,649,475	N403S	probably benign	Het
Prdm12	A	G	2: 31,643,912	I180M	probably benign	Het
Prpf6	A	G	2: 181,631,974	T304A	probably benign	Het
Ptprm	G	A	17: 67,191,341	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,224,727	I223N	probably damaging	Het
Pygb	G	A	2: 150,815,134		probably null	Het
Qrsl1	A	G	10: 43,896,001		probably benign	Het
Rad51ap2	T	C	12: 11,458,817		probably null	Het
Ralbp1	C	T	17: 65,852,753	R505H	probably benign	Het
Rimbp3	T	C	16: 17,212,737	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,178,542	R267L	probably damaging	Het
Slco6c1	T	A	1: 97,104,773		probably benign	Het
Tcp1	T	C	17: 12,923,244	I375T	probably damaging	Het
Tiparp	T	C	3: 65,553,165	I525T	probably benign	Het
Tjp2	A	G	19: 24,131,316	L144P	probably benign	Het
Tssk2	A	G	16: 17,899,066	D111G	probably benign	Het
Ttn	T	C	2: 76,945,479	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,677,867	D381E	probably benign	Het
Vsig10	C	T	5: 117,343,846	T367M	probably damaging	Het
Wnt11	T	C	7: 98,846,528	C80R	probably damaging	Het
Zar1	T	A	5: 72,580,300		probably null	Het
Zfp52	A	T	17: 21,561,846	H652L	probably damaging	Het
Zpr1	T	A	9: 46,275,449	L194Q	probably damaging	Het

Other mutations in Cd2bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0020:Cd2bp2	UTSW	7	127193824	missense	probably damaging	1.00
R0201:Cd2bp2	UTSW	7	127193828	missense	probably damaging	1.00
R0550:Cd2bp2	UTSW	7	127193824	missense	probably damaging	1.00
R1929:Cd2bp2	UTSW	7	127193878	missense	probably benign	0.22
R2187:Cd2bp2	UTSW	7	127194791	missense	probably benign	0.06
R5877:Cd2bp2	UTSW	7	127194799	missense	probably damaging	1.00
R6049:Cd2bp2	UTSW	7	127193835	missense	probably damaging	1.00
R6109:Cd2bp2	UTSW	7	127194815	missense	probably damaging	1.00
R7008:Cd2bp2	UTSW	7	127195395	missense	possibly damaging	0.90
R8198:Cd2bp2	UTSW	7	127194404	missense	possibly damaging	0.91
R8826:Cd2bp2	UTSW	7	127194085	missense	probably damaging	1.00
R8946:Cd2bp2	UTSW	7	127194751	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTCCAAAAGTCCCTCCAGGAGTG -3'
(R):5'- GTAGAAGGTGAGCTATGTCCGAAGC -3'

Sequencing Primer
(F):5'- AGTCTGAAACCTGGTGCTTATC -3'
(R):5'- CTATGTCCGAAGCGTTAACTGAG -3'

Posted On

2013-07-30