Mutagenetix > Incidental Mutation

Incidental Mutation 'R0121:Clec4b2'

21032

Institutional Source

Beutler Lab

Gene Symbol

Clec4b2

Ensembl Gene

ENSMUSG00000067767

Gene Name

C-type lectin domain family 4, member b2

Synonyms

F830043G12Rik, mDCAR1

MMRRC Submission

038406-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0121 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

123172893-123204671 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123204172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

Ref Sequence

ENSEMBL: ENSMUSP00000085802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088455]

AlphaFold

Q67DU8

Predicted Effect

probably benign
Transcript: ENSMUST00000088455
AA Change: D172G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000085802
Gene: ENSMUSG00000067767
AA Change: D172G

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
CLECT	79	202	1.87e-33	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,259,786		probably null	Het
Adgra3	T	C	5: 50,025,786		probably benign	Het
Anxa7	A	T	14: 20,460,159	L386M	probably damaging	Het
Ap2b1	A	G	11: 83,321,967	M58V	possibly damaging	Het
Arfip2	A	G	7: 105,636,371	L224P	probably damaging	Het
Arhgap20	A	G	9: 51,838,951	N373S	possibly damaging	Het
Asph	T	C	4: 9,635,918	D73G	probably damaging	Het
Atp1a2	T	A	1: 172,289,342	E236V	probably damaging	Het
Atp2a1	A	G	7: 126,457,944	S170P	probably damaging	Het
Atp4a	C	G	7: 30,720,101	R659G	probably benign	Het
B4galnt3	C	T	6: 120,215,038	R578H	probably benign	Het
Ccdc178	C	A	18: 21,845,024		probably null	Het
Ccnh	T	A	13: 85,206,193	M252K	probably damaging	Het
Col1a1	A	G	11: 94,938,069	E79G	unknown	Het
Csf3r	A	G	4: 126,029,849	N51D	probably benign	Het
Cul7	C	T	17: 46,663,373	L1489F	probably damaging	Het
Cyp2b13	G	A	7: 26,086,585	C309Y	probably benign	Het
Dync2h1	A	T	9: 7,001,327		probably benign	Het
Edn1	A	G	13: 42,305,265	T135A	probably benign	Het
Ephb2	A	G	4: 136,771,057	I237T	probably damaging	Het
Fam111a	T	A	19: 12,584,080	F12L	probably benign	Het
Foxi2	C	A	7: 135,411,911	A290E	probably benign	Het
Gabra6	A	G	11: 42,314,971	S353P	probably benign	Het
Gm4847	T	C	1: 166,642,288	D72G	probably damaging	Het
Grhl3	A	G	4: 135,552,549	I398T	probably damaging	Het
Gtdc1	T	C	2: 44,565,538		probably benign	Het
Kel	A	C	6: 41,702,064		probably benign	Het
L3mbtl3	C	T	10: 26,313,870	D499N	unknown	Het
Lama1	T	A	17: 67,798,513		probably benign	Het
Mamdc2	T	A	19: 23,310,859	E605V	probably benign	Het
Nolc1	G	A	19: 46,081,378		probably benign	Het
Nudt12	A	T	17: 59,007,639	S317T	possibly damaging	Het
Olfr1085	A	G	2: 86,657,819	V213A	probably benign	Het
Olfr1153	A	G	2: 87,897,090	K297R	possibly damaging	Het
Olfr1277	A	T	2: 111,270,314	C18S	probably benign	Het
Olfr937	T	A	9: 39,059,760	K302M	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pbld1	C	T	10: 63,071,503		probably benign	Het
Prl8a9	T	G	13: 27,560,606	N84T	probably benign	Het
Psph	T	A	5: 129,791,570		probably benign	Het
Sbf2	A	G	7: 110,489,219		probably null	Het
Senp6	A	G	9: 80,116,670	D405G	probably benign	Het
Serpinb1a	T	A	13: 32,848,771		probably benign	Het
Slc2a9	T	C	5: 38,398,743	I287V	probably benign	Het
Sptbn2	T	C	19: 4,745,293	F1593S	probably damaging	Het
Tcf21	T	C	10: 22,819,807	T33A	probably benign	Het
Tdrd3	A	T	14: 87,539,479	Q727L	probably damaging	Het
Tecpr1	C	T	5: 144,210,199	E450K	probably benign	Het
Tenm3	G	A	8: 48,342,659	T532I	probably damaging	Het
Tg	A	T	15: 66,740,781	Q396L	probably benign	Het
Tmtc3	A	G	10: 100,458,908		probably benign	Het
Twnk	T	C	19: 45,009,265		probably benign	Het
Ubac1	A	G	2: 26,008,859		probably null	Het
Ubn2	T	C	6: 38,452,858		probably benign	Het
Zfp944	T	A	17: 22,339,268	T333S	possibly damaging	Het

Other mutations in Clec4b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00956:Clec4b2	APN	6	123202151	nonsense	probably null
IGL01753:Clec4b2	APN	6	123202210	missense	possibly damaging	0.90
IGL02168:Clec4b2	APN	6	123204197	missense	probably damaging	0.98
IGL02388:Clec4b2	APN	6	123202228	splice site	probably null
IGL03194:Clec4b2	APN	6	123200987	missense	probably benign	0.07
P0041:Clec4b2	UTSW	6	123181294	missense	possibly damaging	0.72
R0013:Clec4b2	UTSW	6	123202149	missense	probably damaging	1.00
R0401:Clec4b2	UTSW	6	123181300	nonsense	probably null
R1072:Clec4b2	UTSW	6	123204274	missense	probably damaging	0.99
R2520:Clec4b2	UTSW	6	123200983	missense	probably damaging	1.00
R4575:Clec4b2	UTSW	6	123173680	missense	probably damaging	0.99
R4897:Clec4b2	UTSW	6	123201040	nonsense	probably null
R4898:Clec4b2	UTSW	6	123204204	missense	probably benign	0.36
R5022:Clec4b2	UTSW	6	123200956	missense	probably null	1.00
R5023:Clec4b2	UTSW	6	123200956	missense	probably null	1.00
R5057:Clec4b2	UTSW	6	123200956	missense	probably null	1.00
R5404:Clec4b2	UTSW	6	123181349	missense	probably benign	0.06
R5508:Clec4b2	UTSW	6	123173042	start gained	probably benign
R6082:Clec4b2	UTSW	6	123204141	critical splice acceptor site	probably null
R6333:Clec4b2	UTSW	6	123200678	splice site	probably null
R6902:Clec4b2	UTSW	6	123201028	nonsense	probably null
R6946:Clec4b2	UTSW	6	123201028	nonsense	probably null
R7144:Clec4b2	UTSW	6	123181384	missense	probably benign	0.02
R7709:Clec4b2	UTSW	6	123173015	start gained	probably benign
R7973:Clec4b2	UTSW	6	123204189	missense	probably benign	0.05
R8810:Clec4b2	UTSW	6	123181310	missense	probably benign	0.23
R9278:Clec4b2	UTSW	6	123204265	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCAATGGGTTGAATGTCCCCTGG -3'
(R):5'- GGTGGATAACAATGCAATCCCAAGGC -3'

Sequencing Primer
(F):5'- CTCTGTTATCCAGTGAAATGTGAGC -3'
(R):5'- CCAAGGCCATAAAGGATATGTGATTC -3'

Posted On

2013-04-11