Mutagenetix > Incidental Mutation

Incidental Mutation 'R7008:Cd2bp2'

544834

Institutional Source

Beutler Lab

Gene Symbol

Cd2bp2

Ensembl Gene

ENSMUSG00000042502

Gene Name

CD2 cytoplasmic tail binding protein 2

Synonyms

1500011B02Rik, 2410024K20Rik

MMRRC Submission

045110-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R7008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126790832-126795222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126794567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 15 (D15G)

Ref Sequence

ENSEMBL: ENSMUSP00000145634 (fasta)

Gene Model

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

AlphaFold

Q9CWK3

Predicted Effect

probably benign
Transcript: ENSMUST00000035771
AA Change: D15G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044790
Gene: ENSMUSG00000042502
AA Change: D15G

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

probably benign
Transcript: ENSMUST00000166791
AA Change: D15G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132963
Gene: ENSMUSG00000042502
AA Change: D15G

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: ENSMUST00000205316
AA Change: D15G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000205321
AA Change: D15G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205355
AA Change: D15G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000205620

Predicted Effect

probably benign
Transcript: ENSMUST00000206026
AA Change: D15G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000206081
AA Change: D15G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000206587
AA Change: D15G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	A	5: 90,407,955 (GRCm39)	I1421F	possibly damaging	Het
Arhgef11	C	A	3: 87,636,525 (GRCm39)	T992K	possibly damaging	Het
Arid1b	T	C	17: 5,341,254 (GRCm39)	Y853H	probably damaging	Het
Bcl10	G	T	3: 145,639,054 (GRCm39)	R232L	probably benign	Het
Best2	T	A	8: 85,739,840 (GRCm39)	I76F	possibly damaging	Het
Card11	G	C	5: 140,859,148 (GRCm39)	R1133G	probably damaging	Het
Card9	T	C	2: 26,247,811 (GRCm39)	D180G	possibly damaging	Het
Ccdc162	T	A	10: 41,428,411 (GRCm39)	E119V	probably damaging	Het
Ccdc168	T	C	1: 44,098,785 (GRCm39)	D771G	probably benign	Het
Cdk7	A	C	13: 100,854,129 (GRCm39)	M120R	probably damaging	Het
Cryba4	T	A	5: 112,399,648 (GRCm39)	T2S	probably benign	Het
Cyp19a1	A	T	9: 54,100,609 (GRCm39)	M26K	probably benign	Het
Dgcr2	A	G	16: 17,662,865 (GRCm39)	S157P	probably damaging	Het
Dis3l	A	G	9: 64,217,735 (GRCm39)	F782S	possibly damaging	Het
Ephb4	T	A	5: 137,359,536 (GRCm39)	S369T	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,806,192 (GRCm39)	K97E	probably damaging	Het
Igf2bp2	A	T	16: 21,900,582 (GRCm39)	D118E	probably benign	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Klhl5	T	C	5: 65,300,592 (GRCm39)	S52P	probably benign	Het
Lrrc28	A	T	7: 67,245,459 (GRCm39)		probably benign	Het
Map4k4	T	G	1: 40,028,131 (GRCm39)	D317E	probably benign	Het
Maz	A	T	7: 126,623,784 (GRCm39)	C66S	probably damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Milr1	T	A	11: 106,642,140 (GRCm39)	S11T	probably damaging	Het
Mthfd2l	T	A	5: 91,107,587 (GRCm39)	C150S	probably damaging	Het
Nemf	A	T	12: 69,388,395 (GRCm39)	N325K	possibly damaging	Het
Nemf	C	T	12: 69,400,567 (GRCm39)		probably null	Het
Nod2	T	A	8: 89,390,285 (GRCm39)	C197*	probably null	Het
Odf2l	A	G	3: 144,838,495 (GRCm39)	K241E	probably damaging	Het
Or4z4	G	A	19: 12,076,214 (GRCm39)	T263I	possibly damaging	Het
Or5b124	A	T	19: 13,610,985 (GRCm39)	N170I	probably damaging	Het
Osbpl10	T	G	9: 114,890,916 (GRCm39)	D101E	probably damaging	Het
Osgin1	T	C	8: 120,168,233 (GRCm39)	V20A	possibly damaging	Het
Pan3	T	A	5: 147,482,503 (GRCm39)	C438S	probably damaging	Het
Plaa	A	G	4: 94,457,586 (GRCm39)	*795Q	probably null	Het
Prss35	T	C	9: 86,638,361 (GRCm39)	V377A	probably benign	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasl12	G	A	9: 65,318,151 (GRCm39)	V172M	probably damaging	Het
Rdh16f1	A	G	10: 127,626,775 (GRCm39)	H276R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sez6l	T	C	5: 112,612,561 (GRCm39)	Y460C	probably damaging	Het
Sipa1l1	T	G	12: 82,409,886 (GRCm39)	M600R	probably damaging	Het
Slc11a2	T	C	15: 100,307,205 (GRCm39)	Y92C	probably damaging	Het
Slc4a10	A	G	2: 62,117,266 (GRCm39)	T712A	probably benign	Het
Sntb1	A	T	15: 55,655,468 (GRCm39)	Y249*	probably null	Het
Spatc1	A	G	15: 76,167,923 (GRCm39)	I127M	probably benign	Het
Sting1	C	A	18: 35,868,224 (GRCm39)	R292L	probably damaging	Het
Synj1	A	T	16: 90,790,833 (GRCm39)	N109K	probably damaging	Het
Tdg	T	A	10: 82,484,475 (GRCm39)	M396K	possibly damaging	Het
Tmem252	T	C	19: 24,651,656 (GRCm39)	V75A	probably damaging	Het
Trim40	T	C	17: 37,194,868 (GRCm39)	Q142R	probably damaging	Het
Trip6	T	C	5: 137,311,228 (GRCm39)	T163A	probably damaging	Het
Ttn	T	C	2: 76,724,986 (GRCm39)		probably benign	Het
Wdr95	T	C	5: 149,535,005 (GRCm39)	L721P	probably benign	Het
Zfp385c	A	T	11: 100,521,513 (GRCm39)	D182E	probably damaging	Het
Zfp597	A	G	16: 3,683,631 (GRCm39)	F375S	probably benign	Het
Zfp658	T	G	7: 43,223,336 (GRCm39)	F537C	possibly damaging	Het
Zgrf1	T	C	3: 127,355,421 (GRCm39)	F216L	probably benign	Het

Other mutations in Cd2bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0020:Cd2bp2	UTSW	7	126,792,996 (GRCm39)	missense	probably damaging	1.00
R0201:Cd2bp2	UTSW	7	126,793,000 (GRCm39)	missense	probably damaging	1.00
R0550:Cd2bp2	UTSW	7	126,792,996 (GRCm39)	missense	probably damaging	1.00
R0674:Cd2bp2	UTSW	7	126,794,008 (GRCm39)	missense	probably damaging	1.00
R1929:Cd2bp2	UTSW	7	126,793,050 (GRCm39)	missense	probably benign	0.22
R2187:Cd2bp2	UTSW	7	126,793,963 (GRCm39)	missense	probably benign	0.06
R5877:Cd2bp2	UTSW	7	126,793,971 (GRCm39)	missense	probably damaging	1.00
R6049:Cd2bp2	UTSW	7	126,793,007 (GRCm39)	missense	probably damaging	1.00
R6109:Cd2bp2	UTSW	7	126,793,987 (GRCm39)	missense	probably damaging	1.00
R8198:Cd2bp2	UTSW	7	126,793,576 (GRCm39)	missense	possibly damaging	0.91
R8826:Cd2bp2	UTSW	7	126,793,257 (GRCm39)	missense	probably damaging	1.00
R8946:Cd2bp2	UTSW	7	126,793,923 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTAGTTCCCCAGATACTCCAGG -3'
(R):5'- GCCTGCTAGTTCTCTCAGATGC -3'

Sequencing Primer
(F):5'- AGTTCCCCAGATACTCCAGGATCTG -3'
(R):5'- AGATGCTTTAGCGATCTGTCC -3'

Posted On

2019-05-13