Mutagenetix > Incidental Mutation

Incidental Mutation 'R9319:Cd22'

706032

Institutional Source

Beutler Lab

Gene Symbol

Cd22

Ensembl Gene

ENSMUSG00000030577

Gene Name

CD22 antigen

Synonyms

Lyb-8, Lyb8

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30865402-30880342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30869904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 596 (N596Y)

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 damaging
Transcript: ENSMUST00000019248
AA Change: N596Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: N596Y

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 damaging
Transcript: ENSMUST00000108125
AA Change: N596Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: N596Y

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 damaging
Transcript: ENSMUST00000186154
AA Change: N596Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: N596Y

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 damaging
Transcript: ENSMUST00000189718
AA Change: N596Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: N596Y

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 damaging
Transcript: ENSMUST00000190617
AA Change: N596Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: N596Y

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: N422Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	G	A	2: 85,490,413	R349C	probably damaging	Het
4930590J08Rik	A	G	6: 91,945,465	D811G	probably damaging	Het
Akap13	A	G	7: 75,609,088	T487A	probably benign	Het
Ankrd6	C	T	4: 32,806,324	S643N	probably benign	Het
Apcdd1	C	T	18: 62,922,660		probably benign	Het
Camk2b	G	T	11: 5,977,814	P489Q	probably benign	Het
Ccdc151	T	C	9: 21,994,907	D245G	probably damaging	Het
Cd163l1	C	T	7: 140,228,027	P704S	possibly damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Cobl	A	T	11: 12,253,648	V1018E	probably benign	Het
Cttn	T	C	7: 144,463,363	E34G	probably damaging	Het
Dhx15	G	A	5: 52,184,851	R42*	probably null	Het
Dlgap4	G	T	2: 156,704,594	R394L	possibly damaging	Het
Dlst	G	T	12: 85,123,811	R238L	probably damaging	Het
Dnah7c	A	G	1: 46,482,008	E232G	possibly damaging	Het
Dsg1b	C	T	18: 20,397,947	Q452*	probably null	Het
Elovl3	A	G	19: 46,134,068	T102A	possibly damaging	Het
Epas1	A	G	17: 86,797,117	S10G	possibly damaging	Het
Fanca	T	C	8: 123,291,451	I613V	probably benign	Het
Fat1	T	A	8: 44,953,023	V937D	probably damaging	Het
Glipr1l1	G	T	10: 112,062,217	A76S	probably damaging	Het
Ino80	T	C	2: 119,374,524	D1507G	probably benign	Het
Ipo13	T	C	4: 117,912,388	D69G	probably benign	Het
Kif2c	T	C	4: 117,178,248		probably null	Het
Lrrc61	C	A	6: 48,568,294	T17K	probably damaging	Het
Ltk	C	A	2: 119,759,615	E43D	probably benign	Het
Mcm3ap	A	G	10: 76,482,804	T720A	probably damaging	Het
Mcoln2	T	A	3: 146,169,936	V81D	probably damaging	Het
Mturn	T	A	6: 54,681,795	V9D	probably benign	Het
Nrg1	T	C	8: 31,833,176	D249G	probably benign	Het
Ntng2	T	C	2: 29,201,109		probably benign	Het
Pax3	T	A	1: 78,103,442	M436L	probably benign	Het
Pias4	G	A	10: 81,155,916	P53S	unknown	Het
Pkhd1l1	C	T	15: 44,529,578	R1770C	possibly damaging	Het
Plk1	C	A	7: 122,168,899	D447E	probably damaging	Het
Rsph10b	A	C	5: 143,966,519	M611L	probably benign	Het
Snrnp40	T	C	4: 130,362,752	L90P	possibly damaging	Het
Snu13	T	C	15: 82,044,017	T2A	probably benign	Het
Sptlc3	C	T	2: 139,636,810	A563V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmx3	A	G	18: 90,539,944	I373M	probably benign	Het
Tpbg	C	T	9: 85,843,938		probably benign	Het
Troap	T	C	15: 99,077,563	I176T	probably benign	Het
Trpm2	G	A	10: 77,942,942	Q397*	probably null	Het
Trpm2	A	T	10: 77,949,198	V196E	probably damaging	Het
Vac14	T	A	8: 110,634,386	I196N	probably damaging	Het
Vmn2r71	C	T	7: 85,624,486	P836L	probably damaging	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
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
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'- CATCACTCTCACAGGACAAGGTG -3'
(R):5'- TAAGCCCCGCATCAGAGATC -3'

Sequencing Primer
(F):5'- GACAAGGTGGCCTTCTTCC -3'
(R):5'- ATCAGAGATCCGCGCTGG -3'

Posted On

2022-03-25