Mutagenetix > Incidental Mutation

Incidental Mutation 'R5890:Cd72'

457075

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

044091-MU

Accession Numbers

Essential gene?

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

Stock #

R5890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43447724-43454720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43454475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 18 (K18R)

Ref Sequence

ENSEMBL: ENSMUSP00000095709 (fasta)

Gene Model

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

AlphaFold

P21855

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030179
AA Change: K18R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: K18R

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

possibly damaging
Transcript: ENSMUST00000098104
AA Change: K18R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: K18R

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

probably damaging
Transcript: ENSMUST00000098105
AA Change: K18R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: K18R

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

possibly damaging
Transcript: ENSMUST00000107925
AA Change: K18R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: K18R

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

possibly damaging
Transcript: ENSMUST00000107926
AA Change: K18R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: K18R

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: ENSMUST00000134850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151868

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,550,554 (GRCm39)		probably null	Het
Acsm3	C	A	7: 119,374,457 (GRCm39)	T303N	probably benign	Het
Adamts13	A	T	2: 26,876,603 (GRCm39)	R506W	probably damaging	Het
Adck5	C	T	15: 76,477,785 (GRCm39)	T166M	probably damaging	Het
Adcy8	T	A	15: 64,687,266 (GRCm39)	I413F	probably damaging	Het
Adgrl2	A	T	3: 148,564,811 (GRCm39)	D252E	probably damaging	Het
Aldh16a1	T	A	7: 44,793,969 (GRCm39)	T636S	probably benign	Het
Ampd1	C	A	3: 102,997,391 (GRCm39)	F264L	probably damaging	Het
Arhgap17	T	C	7: 122,885,981 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,222,151 (GRCm39)		probably benign	Het
Bltp2	C	T	11: 78,164,096 (GRCm39)	Q40*	probably null	Het
Bod1l	T	A	5: 41,977,921 (GRCm39)	E1131V	probably benign	Het
Cbs	C	T	17: 31,832,193 (GRCm39)	V553M	probably damaging	Het
Cep89	A	G	7: 35,128,587 (GRCm39)	Y580C	probably damaging	Het
Chrnb1	T	A	11: 69,683,555 (GRCm39)	I264F	possibly damaging	Het
Cntf	A	G	19: 12,741,357 (GRCm39)	W168R	probably damaging	Het
Cxxc1	T	A	18: 74,354,237 (GRCm39)	D648E	possibly damaging	Het
Cyp2c68	A	T	19: 39,700,936 (GRCm39)	L294Q	probably damaging	Het
Dab2ip	T	C	2: 35,605,414 (GRCm39)	S532P	probably damaging	Het
Defb3	G	A	8: 19,345,200 (GRCm39)	C52Y	probably damaging	Het
Dennd5a	T	G	7: 109,533,428 (GRCm39)	E114A	probably benign	Het
Dnah12	T	C	14: 26,428,039 (GRCm39)	F222L	probably benign	Het
Dock9	A	C	14: 121,905,820 (GRCm39)		probably null	Het
Fras1	A	T	5: 96,793,807 (GRCm39)	H1043L	probably benign	Het
Gamt	C	A	10: 80,095,741 (GRCm39)	R63L	possibly damaging	Het
Gm1527	A	G	3: 28,969,544 (GRCm39)	H298R	probably benign	Het
Gphb5	C	T	12: 75,462,596 (GRCm39)		probably null	Het
Greb1	A	T	12: 16,783,422 (GRCm39)	V104D	possibly damaging	Het
Hck	A	G	2: 152,970,996 (GRCm39)	D86G	probably damaging	Het
Jhy	T	A	9: 40,833,958 (GRCm39)	K321*	probably null	Het
Kcna5	C	T	6: 126,511,699 (GRCm39)	R143H	probably damaging	Het
Kif19a	G	T	11: 114,680,264 (GRCm39)	W867L	possibly damaging	Het
Map3k4	G	A	17: 12,490,303 (GRCm39)	A376V	probably damaging	Het
Mars1	A	T	10: 127,133,914 (GRCm39)	M661K	probably benign	Het
Mecp2	C	T	X: 73,079,043 (GRCm39)	V496M	probably damaging	Het
Mfsd2b	A	T	12: 4,917,651 (GRCm39)	C132S	probably damaging	Het
Mfsd4a	T	C	1: 131,966,666 (GRCm39)	Y356C	probably damaging	Het
Mif4gd	G	T	11: 115,500,188 (GRCm39)	A89E	probably benign	Het
Mkln1	A	T	6: 31,467,482 (GRCm39)	E593D	probably benign	Het
Mlh1	G	T	9: 111,057,563 (GRCm39)	N749K	possibly damaging	Het
Mrgprb2	T	A	7: 48,201,707 (GRCm39)	*339C	probably null	Het
Nphp4	T	C	4: 152,631,536 (GRCm39)	V812A	probably benign	Het
Nrcam	G	T	12: 44,623,554 (GRCm39)	V1048L	probably benign	Het
Obsl1	G	A	1: 75,470,503 (GRCm39)	A856V	probably damaging	Het
Osgepl1	T	A	1: 53,357,326 (GRCm39)	F163I	probably damaging	Het
Pcdha6	C	A	18: 37,102,121 (GRCm39)	T438K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,286 (GRCm39)	M271L	probably benign	Het
Phip	T	C	9: 82,789,005 (GRCm39)	T770A	probably benign	Het
Ppm1d	A	G	11: 85,217,734 (GRCm39)	T166A	probably damaging	Het
Ptprf	A	T	4: 118,081,932 (GRCm39)	I1102K	probably benign	Het
Sbsn	T	C	7: 30,452,692 (GRCm39)	V569A	possibly damaging	Het
Skida1	T	A	2: 18,050,814 (GRCm39)		probably benign	Het
Smg1	T	A	7: 117,789,809 (GRCm39)		probably benign	Het
Sorcs2	A	G	5: 36,386,535 (GRCm39)	Y168H	probably damaging	Het
Sufu	A	T	19: 46,443,172 (GRCm39)		probably null	Het
Tbc1d24	A	T	17: 24,404,500 (GRCm39)	W215R	probably damaging	Het
Tenm4	T	C	7: 96,552,067 (GRCm39)	L2502P	probably damaging	Het
Tgm4	A	T	9: 122,890,703 (GRCm39)	E10V	probably damaging	Het
Trip11	T	C	12: 101,852,231 (GRCm39)	E611G	probably damaging	Het
Ttn	C	A	2: 76,540,243 (GRCm39)	A34248S	possibly damaging	Het
Ube3a	T	A	7: 58,921,776 (GRCm39)	N49K	probably damaging	Het
Ube3c	A	G	5: 29,863,290 (GRCm39)	D855G	possibly damaging	Het
Ugt8a	A	G	3: 125,669,202 (GRCm39)	S301P	probably benign	Het
Wdfy4	T	A	14: 32,824,534 (GRCm39)	N1295I	possibly damaging	Het
Wdr47	G	T	3: 108,517,328 (GRCm39)	G43C	probably damaging	Het
Wdtc1	A	C	4: 133,021,673 (GRCm39)	L601W	unknown	Het
Zfp236	A	G	18: 82,658,276 (GRCm39)	F614S	possibly damaging	Het
Zfp637	T	A	6: 117,822,047 (GRCm39)	D58E	possibly 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
R3848:Cd72	UTSW	4	43,452,525 (GRCm39)	missense	possibly damaging	0.69
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
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'- ACTTGCACATTCTCGTAGGTG -3'
(R):5'- CATTGAGTCCATCTGCCAAAG -3'

Sequencing Primer
(F):5'- AGGTGAGTTCCCCATCTTCATAGG -3'
(R):5'- TTGAGTCCATCTGCCAAAGACCTAC -3'

Posted On

2017-02-15