Mutagenetix > Incidental Mutation

Incidental Mutation 'R8686:Cd22'

662040

Institutional Source

Beutler Lab

Gene Symbol

Cd22

Ensembl Gene

ENSMUSG00000030577

Gene Name

CD22 antigen

Synonyms

Lyb-8, Lyb8

MMRRC Submission

068541-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30865402-30880342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30870069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 541 (R541C)

Ref Sequence

ENSEMBL: ENSMUSP00000019248 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019248
AA Change: R541C

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: R541C

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: R541C

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: R541C

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: R541C

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: R541C

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: ENSMUST00000187989

Predicted Effect

probably benign
Transcript: ENSMUST00000189718
AA Change: R541C

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: R541C

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: R541C

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: R541C

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

SMART Domains

Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577

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 damaging
Transcript: ENSMUST00000214289
AA Change: R367C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	C	T	9: 103,259,428	A525T	probably benign	Het
Adam25	A	G	8: 40,755,484	T596A	probably benign	Het
Adamts6	A	G	13: 104,313,699	I303V	probably damaging	Het
Alpl	A	T	4: 137,743,801	H341Q	probably damaging	Het
Cachd1	G	A	4: 100,988,128	R939H	probably damaging	Het
Ccdc114	A	G	7: 45,947,692	T456A	probably benign	Het
Cenpf	A	T	1: 189,659,604	M660K	probably benign	Het
Cmya5	A	T	13: 93,095,380	S1067T	possibly damaging	Het
Col5a2	C	T	1: 45,421,987	G250D	probably damaging	Het
Cylc2	C	T	4: 51,229,651	T331M	unknown	Het
Dgka	A	G	10: 128,733,093	M201T	probably benign	Het
Dnajc13	T	C	9: 104,170,805	I1804V	probably benign	Het
Dym	T	A	18: 75,286,683	Y642N	probably damaging	Het
Efr3b	A	T	12: 4,000,886	D26E	probably damaging	Het
Emilin1	A	T	5: 30,917,696	K427M	possibly damaging	Het
Fam187b	T	C	7: 30,977,234	L56S	probably benign	Het
Fbxo18	C	T	2: 11,755,658	V694I	probably benign	Het
Fgd2	C	T	17: 29,379,023	T644I	probably benign	Het
G6pc	T	G	11: 101,374,707		probably null	Het
Gli2	A	G	1: 118,836,687	S1245P	probably benign	Het
Gm10696	T	C	3: 94,176,120	D128G	probably benign	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Ighv1-84	T	C	12: 115,980,904	D50G	probably benign	Het
Impdh1	C	A	6: 29,216,215		probably benign	Het
Irf4	A	T	13: 30,761,450	D393V	possibly damaging	Het
Kalrn	A	G	16: 34,360,935	L111P	probably damaging	Het
Lrch3	T	C	16: 32,981,853	V58A	possibly damaging	Het
Lrif1	C	T	3: 106,732,781	T394I	probably damaging	Het
Map4k1	A	G	7: 28,994,073	T434A	probably benign	Het
Mcur1	G	A	13: 43,541,717	T327M	probably damaging	Het
Mettl7b	A	T	10: 128,960,607	M111K	possibly damaging	Het
Myo9b	G	T	8: 71,334,322	S716I	probably benign	Het
Nol10	T	A	12: 17,369,771		probably benign	Het
Nos3	A	G	5: 24,368,843	T202A	possibly damaging	Het
Olfr128	T	C	17: 37,924,277	V237A	probably benign	Het
Olfr710	A	C	7: 106,944,698	M101R	probably benign	Het
Parp12	A	T	6: 39,117,922	S80T	probably benign	Het
Pde1a	C	T	2: 79,927,742	V50I	probably benign	Het
Pfkl	A	T	10: 77,997,522		probably null	Het
Phkg1	A	T	5: 129,866,215	Y207N	probably damaging	Het
Pik3r4	A	G	9: 105,658,529	T640A	possibly damaging	Het
Pip5k1c	C	A	10: 81,311,993	H411N	probably damaging	Het
Pla2g4e	A	G	2: 120,244,691	S73P	probably damaging	Het
Polr2b	T	C	5: 77,335,663	V662A	probably damaging	Het
Prss43	C	T	9: 110,829,426	R265C	possibly damaging	Het
Rap1b	A	T	10: 117,822,841	V29D	probably damaging	Het
Rraga	A	G	4: 86,576,811	E298G	probably damaging	Het
Rrp8	A	T	7: 105,733,574	I418N	probably damaging	Het
Siglecf	T	C	7: 43,355,606	V420A	probably benign	Het
Snx14	T	A	9: 88,415,693	N174I	probably damaging	Het
Speer4e	T	C	5: 14,934,115	N229S	probably benign	Het
Teddm3	A	G	16: 21,152,935	*295Q	probably null	Het
Tfap2c	A	G	2: 172,552,006	D245G	possibly damaging	Het
Tfap2d	A	G	1: 19,108,284	N191S	probably benign	Het
Unc80	A	G	1: 66,612,268	R1591G	possibly damaging	Het
Vmn1r116	T	C	7: 20,872,691	W146R	probably damaging	Het
Vps13b	C	G	15: 35,925,389	S3823R	probably damaging	Het
Wiz	T	A	17: 32,367,847	D163V	probably damaging	Het
Xylt1	G	C	7: 117,381,359	A61P	unknown	Het
Zfp521	A	C	18: 13,845,644	F571V	probably damaging	Het
Zfp664	T	A	5: 124,886,069	C176S	possibly damaging	Het
Zfyve26	T	C	12: 79,287,453	N264D	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
R7068:Cd22	UTSW	7	30878079	missense	probably benign	0.03
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
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'- TGGAGTTGTTGACCATGCAG -3'
(R):5'- AGGTCACATTGAGATCTGTGGG -3'

Sequencing Primer
(F):5'- GTTGACCATGCAGTTATAATTTCCAG -3'
(R):5'- CACATTGAGATCTGTGGGTGGGAG -3'

Posted On

2021-03-08