Mutagenetix > Incidental Mutation

Incidental Mutation 'R3848:Cd72'

275749

Institutional Source

Beutler Lab

Gene Symbol

Cd72

Ensembl Gene

ENSMUSG00000028459

Gene Name

CD72 antigen

Synonyms

Ly-m19, Ly-19, Ly-32, Lyb-2

MMRRC Submission

040896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R3848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43447724-43454720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43452525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 132 (E132G)

Ref Sequence

ENSEMBL: ENSMUSP00000095709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030179] [ENSMUST00000060864] [ENSMUST00000098104] [ENSMUST00000098105] [ENSMUST00000107925] [ENSMUST00000107926] [ENSMUST00000138981]

AlphaFold

P21855

Predicted Effect

probably benign
Transcript: ENSMUST00000030179
AA Change: E156G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: E156G

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
coiled coil region	137	223	N/A	INTRINSIC
CLECT	232	348	2.28e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060864

SMART Domains

Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
Pfam:Pkinase	52	306	5.4e-46	PFAM
Pfam:Pkinase_Tyr	52	306	3.1e-47	PFAM
low complexity region	316	330	N/A	INTRINSIC
low complexity region	345	370	N/A	INTRINSIC
low complexity region	403	424	N/A	INTRINSIC
low complexity region	472	490	N/A	INTRINSIC
low complexity region	513	525	N/A	INTRINSIC
low complexity region	549	565	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098104
AA Change: E102G

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: E102G

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
coiled coil region	83	169	N/A	INTRINSIC
CLECT	178	287	2.48e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098105
AA Change: E132G

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: E132G

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
transmembrane domain	72	94	N/A	INTRINSIC
coiled coil region	113	199	N/A	INTRINSIC
CLECT	208	324	2.28e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107925
AA Change: E156G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: E156G

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
coiled coil region	137	223	N/A	INTRINSIC
CLECT	232	334	2.65e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107926
AA Change: E156G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: E156G

Domain	Start	End	E-Value	Type
low complexity region	44	60	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
coiled coil region	137	223	N/A	INTRINSIC
CLECT	232	341	2.48e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141198

Predicted Effect

probably benign
Transcript: ENSMUST00000138981

SMART Domains

Protein: ENSMUSP00000121067
Gene: ENSMUSG00000028458

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
Pfam:Pkinase	52	174	7.6e-29	PFAM
Pfam:Pkinase_Tyr	52	175	1.5e-26	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (62/62)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in impaired B cell development and delayed maturation, resulting in reduced numbers of mature B cells and an expansion of pre-B cells. Mice have fewer peripheral mature B-2 cells and more B-1 cells. B cells are hyperproliferative in response to stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,588,191 (GRCm39)	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Anxa2	G	T	9: 69,374,624 (GRCm39)	D34Y	probably damaging	Het
Asic1	A	G	15: 99,570,814 (GRCm39)	N143S	probably benign	Het
Catsperb	A	C	12: 101,475,585 (GRCm39)	Q376H	probably damaging	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374 (GRCm39)	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpeb2	T	G	5: 43,394,788 (GRCm39)	S64A	probably damaging	Het
Cplx3	G	A	9: 57,515,600 (GRCm39)	A425V	possibly damaging	Het
Ctsc	A	G	7: 87,958,818 (GRCm39)	H366R	probably benign	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Efhb	A	T	17: 53,734,024 (GRCm39)		probably benign	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,993,781 (GRCm39)	S46P	probably benign	Het
Fbxo38	G	A	18: 62,648,144 (GRCm39)	S798F	possibly damaging	Het
Fggy	T	C	4: 95,489,361 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Hoxd8	A	G	2: 74,535,929 (GRCm39)	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Jph2	G	A	2: 163,181,332 (GRCm39)	P611S	probably benign	Het
Kifbp	A	G	10: 62,405,249 (GRCm39)	Y64H	probably damaging	Het
Kndc1	T	C	7: 139,488,893 (GRCm39)	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,790,121 (GRCm39)	E132G	probably damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrpprc	T	C	17: 85,078,355 (GRCm39)	I308V	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Or51v8	A	G	7: 103,319,908 (GRCm39)	V110A	probably damaging	Het
Or52e8b	A	G	7: 104,673,539 (GRCm39)	V216A	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Orc2	T	C	1: 58,520,151 (GRCm39)	T225A	probably benign	Het
P2ry1	G	A	3: 60,910,880 (GRCm39)	W6*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pigt	G	A	2: 164,340,500 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,963,785 (GRCm39)	C71*	probably null	Het
Plcxd2	T	C	16: 45,792,629 (GRCm39)	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252 (GRCm39)	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,444,113 (GRCm39)	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,582,134 (GRCm39)	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Sell	A	T	1: 163,893,230 (GRCm39)	K149*	probably null	Het
Sidt1	A	G	16: 44,076,322 (GRCm39)		probably benign	Het
Slc6a5	C	G	7: 49,577,306 (GRCm39)		probably benign	Het
Slc7a14	A	T	3: 31,291,623 (GRCm39)	N218K	probably damaging	Het
Spice1	C	T	16: 44,199,254 (GRCm39)	R569*	probably null	Het
Stk35	G	T	2: 129,642,656 (GRCm39)	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,909,369 (GRCm39)	R1632S	possibly damaging	Het
Ttc6	G	A	12: 57,723,932 (GRCm39)	R1020H	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Vmn2r15	A	T	5: 109,445,312 (GRCm39)	D37E	probably benign	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	probably damaging	Het

Other mutations in Cd72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Cd72	APN	4	43,448,365 (GRCm39)	missense	possibly damaging	0.79
IGL02861:Cd72	APN	4	43,448,332 (GRCm39)	missense	probably benign	0.33
IGL03208:Cd72	APN	4	43,452,337 (GRCm39)	missense	probably damaging	0.99
grovel	UTSW	4	43,454,515 (GRCm39)	missense	possibly damaging	0.46
scrape	UTSW	4	43,452,628 (GRCm39)	missense	probably damaging	0.96
R0239:Cd72	UTSW	4	43,453,163 (GRCm39)	missense	probably benign	0.06
R0239:Cd72	UTSW	4	43,453,163 (GRCm39)	missense	probably benign	0.06
R3971:Cd72	UTSW	4	43,449,491 (GRCm39)	missense	probably damaging	0.99
R4872:Cd72	UTSW	4	43,449,563 (GRCm39)	unclassified	probably benign
R5098:Cd72	UTSW	4	43,452,610 (GRCm39)	missense	probably damaging	0.97
R5471:Cd72	UTSW	4	43,448,345 (GRCm39)	missense	probably benign	0.00
R5890:Cd72	UTSW	4	43,454,475 (GRCm39)	missense	probably damaging	0.98
R7132:Cd72	UTSW	4	43,452,444 (GRCm39)	missense	possibly damaging	0.82
R7478:Cd72	UTSW	4	43,454,515 (GRCm39)	missense	possibly damaging	0.46
R8152:Cd72	UTSW	4	43,452,601 (GRCm39)	missense	possibly damaging	0.92
R8159:Cd72	UTSW	4	43,450,174 (GRCm39)	missense	probably damaging	0.99
R8442:Cd72	UTSW	4	43,450,109 (GRCm39)	missense	possibly damaging	0.77
R8788:Cd72	UTSW	4	43,450,185 (GRCm39)	missense	probably benign
R8789:Cd72	UTSW	4	43,452,628 (GRCm39)	missense	probably damaging	0.96
R8964:Cd72	UTSW	4	43,450,218 (GRCm39)	missense	probably damaging	0.99
R9331:Cd72	UTSW	4	43,454,320 (GRCm39)	missense	possibly damaging	0.94
R9373:Cd72	UTSW	4	43,450,141 (GRCm39)	missense	possibly damaging	0.90
R9726:Cd72	UTSW	4	43,452,641 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTGTCAACCTCTGGTCCAGG -3'
(R):5'- GGAAGTGCACTCAAGTCTCC -3'

Sequencing Primer
(F):5'- AACCTCTGGTCCAGGTCCCTC -3'
(R):5'- AAGGGTCTCCATATGTAGCCCAG -3'

Posted On

2015-04-06