Mutagenetix > Incidental Mutation

Incidental Mutation 'R7068:Cd22'

548683

Institutional Source

Beutler Lab

Gene Symbol

Cd22

Ensembl Gene

ENSMUSG00000030577

Gene Name

CD22 antigen

Synonyms

Lyb-8, Lyb8

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30865402-30880342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30878079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3 (V3A)

Ref Sequence

ENSEMBL: ENSMUSP00000140014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019248] [ENSMUST00000108125] [ENSMUST00000186154] [ENSMUST00000187989] [ENSMUST00000188157] [ENSMUST00000189718] [ENSMUST00000190617] [ENSMUST00000190646] [ENSMUST00000190753] [ENSMUST00000214289]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019248
AA Change: V3A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: V3A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	31	147	2.75e-1	SMART
IG_like	156	254	4.07e1	SMART
IGc2	269	337	2.68e-4	SMART
IGc2	365	424	4.52e-11	SMART
IG	448	523	1.21e-2	SMART
IGc2	541	599	6.75e-10	SMART
IGc2	628	687	2.68e-4	SMART
transmembrane domain	709	726	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108125
AA Change: V3A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: V3A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	31	147	2.75e-1	SMART
IG_like	156	254	4.07e1	SMART
IGc2	269	337	2.68e-4	SMART
IGc2	365	424	4.52e-11	SMART
IG	448	523	1.21e-2	SMART
IGc2	541	599	6.75e-10	SMART
IGc2	628	687	2.68e-4	SMART
transmembrane domain	709	726	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186154
AA Change: V3A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: V3A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	31	147	2.75e-1	SMART
IG_like	156	254	4.07e1	SMART
IGc2	269	337	2.68e-4	SMART
IGc2	365	424	4.52e-11	SMART
IG	448	523	1.21e-2	SMART
IGc2	541	599	6.75e-10	SMART
IGc2	628	687	2.68e-4	SMART
transmembrane domain	709	726	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000187989
AA Change: V3A

Predicted Effect

probably benign
Transcript: ENSMUST00000188157
AA Change: V3A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140450
Gene: ENSMUSG00000030577
AA Change: V3A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	31	147	1.1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189718
AA Change: V3A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: V3A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	31	147	2.75e-1	SMART
IG_like	156	254	4.07e1	SMART
IGc2	269	337	2.68e-4	SMART
IGc2	365	424	4.52e-11	SMART
IG	448	523	1.21e-2	SMART
IGc2	541	599	6.75e-10	SMART
IGc2	628	687	2.68e-4	SMART
transmembrane domain	709	726	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190455

Predicted Effect

probably benign
Transcript: ENSMUST00000190617
AA Change: V3A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: V3A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	31	147	2.75e-1	SMART
IG_like	156	254	4.07e1	SMART
IGc2	269	337	2.68e-4	SMART
IGc2	365	424	4.52e-11	SMART
IG	448	523	1.21e-2	SMART
IGc2	541	599	6.75e-10	SMART
IGc2	628	687	2.68e-4	SMART
transmembrane domain	709	726	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190646
AA Change: V3A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: V3A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	31	147	1.1e-3	SMART
IG_like	166	245	1.6e-2	SMART
IGc2	269	337	1.1e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190753
AA Change: V3A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

unknown
Transcript: ENSMUST00000214289
AA Change: V3A

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice have reduced mature B cell numbers with altered proliferation kinetics and reduced antibody production to T cell independent antigens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,622,580	H24R	probably benign	Het
Ago2	A	T	15: 73,146,450	F46L	probably damaging	Het
Amd1	A	G	10: 40,290,512	F123L	probably benign	Het
Arhgef10	T	C	8: 14,958,639	F546L	probably damaging	Het
Asic2	G	A	11: 81,152,255	H71Y	probably benign	Het
Asphd1	A	G	7: 126,948,678	V151A	probably benign	Het
Best3	T	C	10: 116,988,638	V3A	probably damaging	Het
C4b	A	G	17: 34,733,477	L1196P	probably damaging	Het
Cdkl3	T	C	11: 52,011,327		probably null	Het
Clcnka	A	T	4: 141,387,110	V631E	probably damaging	Het
Cmya5	A	G	13: 93,092,697	V1961A	possibly damaging	Het
Dnah14	A	G	1: 181,769,790	E3559G	probably benign	Het
Emsy	A	T	7: 98,610,761	D39E	probably benign	Het
Fam126a	A	G	5: 23,964,795	S519P	possibly damaging	Het
Fbxl16	G	T	17: 25,819,511	V477F	possibly damaging	Het
Flt1	A	T	5: 147,673,634	I393N	probably damaging	Het
Gabra4	A	T	5: 71,572,059	N433K	probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Ghsr	T	A	3: 27,371,837	V14D	probably benign	Het
Glb1l	A	G	1: 75,202,737	Y183H	probably damaging	Het
Ighv3-4	T	C	12: 114,253,654	T106A	probably damaging	Het
Ik	T	G	18: 36,755,465	F439V	possibly damaging	Het
Itih5	T	C	2: 10,249,304	S789P	probably damaging	Het
Kcnj8	T	C	6: 142,566,239	D214G	probably damaging	Het
Kdm5a	C	A	6: 120,430,215	H1464N	probably benign	Het
Klb	A	T	5: 65,379,340	Y671F	probably damaging	Het
Kremen2	C	A	17: 23,741,885	R421L	possibly damaging	Het
Mroh9	T	A	1: 163,039,181	D662V	probably damaging	Het
Mtmr12	T	G	15: 12,257,670	M278R	probably null	Het
Ndufa8	T	C	2: 36,044,435	M44V	possibly damaging	Het
Nedd4l	A	T	18: 65,205,651	R695S	probably damaging	Het
Nuf2	G	A	1: 169,522,419	P97S	probably damaging	Het
Olfr1018	T	C	2: 85,823,052	V27A	probably benign	Het
Olfr206	T	C	16: 59,345,204	T166A	possibly damaging	Het
Olfr310	A	C	7: 86,269,537	L84R	probably damaging	Het
P4ha2	A	G	11: 54,110,994	T33A	probably benign	Het
Parp1	A	G	1: 180,588,668	H544R	probably damaging	Het
Plec	A	G	15: 76,177,769	L2678P	probably damaging	Het
Rad1	T	A	15: 10,490,293	Y85*	probably null	Het
Sema6d	A	G	2: 124,657,821	I309V	probably benign	Het
Skint2	T	C	4: 112,624,351	V137A	probably damaging	Het
Slc23a3	T	C	1: 75,133,233	N130S	probably benign	Het
Slc35f1	T	C	10: 53,062,500	F176S	probably damaging	Het
Slc44a2	T	A	9: 21,320,848	Y10N	probably benign	Het
Smarcc1	A	G	9: 110,185,884	T506A	probably damaging	Het
Smchd1	A	T	17: 71,387,092	S1219R	probably benign	Het
Smco1	A	G	16: 32,274,111	N200S	probably benign	Het
Srcap	A	G	7: 127,541,943	T1571A	probably benign	Het
Strip2	C	T	6: 29,932,208	T459I	probably benign	Het
Tarbp1	C	T	8: 126,427,034	A1560T	probably damaging	Het
Tcl1b1	T	A	12: 105,159,693		probably benign	Het
Tdrd5	T	C	1: 156,284,271	E436G	probably damaging	Het
Trim31	T	A	17: 36,898,516	C55S	probably damaging	Het
Tsr1	G	T	11: 74,903,919	E467*	probably null	Het
Tulp4	T	A	17: 6,185,289	D178E	probably damaging	Het
Vmn1r30	A	G	6: 58,435,010	V279A	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,313	R132G	probably benign	Het

Other mutations in Cd22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Cd22	APN	7	30876147	missense	probably benign	0.01
IGL02236:Cd22	APN	7	30867468	missense	possibly damaging	0.54
IGL02321:Cd22	APN	7	30869883	missense	probably damaging	1.00
IGL02335:Cd22	APN	7	30876134	missense	probably damaging	1.00
IGL02397:Cd22	APN	7	30877625	missense	probably benign
IGL02402:Cd22	APN	7	30877530	missense	possibly damaging	0.86
IGL02538:Cd22	APN	7	30877560	missense	probably benign	0.40
IGL02736:Cd22	APN	7	30878045	splice site	probably null
blitz	UTSW	7	30869904	missense	probably damaging	1.00
crullers	UTSW	7	30869883	missense	probably damaging	1.00
gansu	UTSW	7	30870105	missense	probably damaging	1.00
lacrima	UTSW	7	30876153	missense	probably damaging	1.00
Lluvia	UTSW	7	30870487	missense	possibly damaging	0.48
Mist	UTSW	7	30866658	missense	probably damaging	1.00
rain	UTSW	7	30877534	missense	probably damaging	1.00
well	UTSW	7	30877787	nonsense	probably null
Yosemite	UTSW	7	30869509	critical splice donor site	probably null
FR4304:Cd22	UTSW	7	30878082	missense	possibly damaging	0.95
FR4340:Cd22	UTSW	7	30878082	missense	possibly damaging	0.95
FR4342:Cd22	UTSW	7	30878082	missense	possibly damaging	0.95
FR4589:Cd22	UTSW	7	30878082	missense	possibly damaging	0.95
LCD18:Cd22	UTSW	7	30878082	missense	possibly damaging	0.95
PIT4142001:Cd22	UTSW	7	30877799	missense	possibly damaging	0.92
R0123:Cd22	UTSW	7	30867108	splice site	probably benign
R0130:Cd22	UTSW	7	30869964	missense	possibly damaging	0.92
R0926:Cd22	UTSW	7	30869509	critical splice donor site	probably null
R1245:Cd22	UTSW	7	30869883	missense	probably damaging	1.00
R1332:Cd22	UTSW	7	30870487	missense	possibly damaging	0.48
R1457:Cd22	UTSW	7	30873170	missense	probably benign	0.07
R1716:Cd22	UTSW	7	30877678	missense	probably damaging	1.00
R1980:Cd22	UTSW	7	30873233	missense	probably damaging	1.00
R2017:Cd22	UTSW	7	30872780	missense	probably damaging	0.99
R2061:Cd22	UTSW	7	30870105	missense	probably damaging	1.00
R2061:Cd22	UTSW	7	30876156	missense	probably benign	0.03
R2075:Cd22	UTSW	7	30869698	missense	probably damaging	1.00
R2216:Cd22	UTSW	7	30867046	missense	probably damaging	1.00
R3886:Cd22	UTSW	7	30870107	missense	possibly damaging	0.57
R4599:Cd22	UTSW	7	30875900	missense	probably damaging	0.98
R4701:Cd22	UTSW	7	30876153	missense	probably damaging	1.00
R4796:Cd22	UTSW	7	30872956	splice site	probably null
R5179:Cd22	UTSW	7	30875874	missense	possibly damaging	0.81
R5233:Cd22	UTSW	7	30877534	missense	probably damaging	1.00
R5456:Cd22	UTSW	7	30876039	missense	probably benign	0.02
R5511:Cd22	UTSW	7	30870071	missense	probably damaging	1.00
R5513:Cd22	UTSW	7	30867025	missense	probably damaging	0.99
R5611:Cd22	UTSW	7	30878150	unclassified	probably benign
R5656:Cd22	UTSW	7	30869773	missense	probably damaging	1.00
R5966:Cd22	UTSW	7	30866658	missense	probably damaging	1.00
R6329:Cd22	UTSW	7	30877768	missense	probably damaging	0.99
R6356:Cd22	UTSW	7	30877702	missense	probably damaging	1.00
R6455:Cd22	UTSW	7	30876153	missense	probably damaging	1.00
R6550:Cd22	UTSW	7	30877552	missense	probably benign	0.00
R6656:Cd22	UTSW	7	30877757	missense	probably benign	0.11
R6688:Cd22	UTSW	7	30872964	missense	possibly damaging	0.91
R6844:Cd22	UTSW	7	30873431	splice site	probably null
R6957:Cd22	UTSW	7	30867574	missense	possibly damaging	0.88
R7083:Cd22	UTSW	7	30868048	missense	probably damaging	0.99
R7225:Cd22	UTSW	7	30877634	missense	not run
R7732:Cd22	UTSW	7	30870057	missense	probably damaging	1.00
R8686:Cd22	UTSW	7	30870069	missense	probably benign	0.03
R8851:Cd22	UTSW	7	30877659	missense	probably benign	0.01
R8987:Cd22	UTSW	7	30877747	missense	probably damaging	1.00
R9051:Cd22	UTSW	7	30876024	missense	probably benign
R9098:Cd22	UTSW	7	30867966	missense	probably benign	0.00
R9124:Cd22	UTSW	7	30873237	missense	probably benign	0.01
R9167:Cd22	UTSW	7	30876005	missense	probably benign	0.07
R9319:Cd22	UTSW	7	30869904	missense	probably damaging	1.00
R9369:Cd22	UTSW	7	30877574	missense	probably benign	0.09
X0025:Cd22	UTSW	7	30873419	splice site	probably null
Z1176:Cd22	UTSW	7	30867963	missense	probably benign	0.03
Z1176:Cd22	UTSW	7	30869530	missense	probably damaging	1.00
Z1186:Cd22	UTSW	7	30867053	missense	probably benign	0.01
Z1186:Cd22	UTSW	7	30867466	missense	probably benign
Z1186:Cd22	UTSW	7	30875867	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGGGTGAGAACTTCCACTG -3'
(R):5'- CAACAAGATGGCTCAAAGGC -3'

Sequencing Primer
(F):5'- TTCCACTGGAAGTAGGAGAGG -3'
(R):5'- AAGGCAAATTCCTTTTGTTGTTCTTG -3'

Posted On

2019-05-13