Mutagenetix > Incidental Mutation

Incidental Mutation 'R9317:Cd68'

705924

Institutional Source

Beutler Lab

Gene Symbol

Cd68

Ensembl Gene

ENSMUSG00000018774

Gene Name

CD68 antigen

Synonyms

Lamp4, macrosialin, Scard1, gp110

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R9317 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69555039-69556979 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 69555860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018905] [ENSMUST00000018918] [ENSMUST00000102589] [ENSMUST00000108654] [ENSMUST00000148242] [ENSMUST00000155200] [ENSMUST00000163666]

AlphaFold

P31996

Predicted Effect

probably benign
Transcript: ENSMUST00000018905

SMART Domains

Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	141	157	N/A	INTRINSIC
CTNS	167	198	5.56e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000018918

SMART Domains

Protein: ENSMUSP00000018918
Gene: ENSMUSG00000018774

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Lamp	28	326	5.6e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102589

Predicted Effect

probably benign
Transcript: ENSMUST00000108654

SMART Domains

Protein: ENSMUSP00000104294
Gene: ENSMUSG00000018774

Domain	Start	End	E-Value	Type
Pfam:Lamp	16	335	3.1e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125389

SMART Domains

Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
CTNS	39	70	1.69e-6	SMART
low complexity region	89	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129224

SMART Domains

Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
CTNS	54	85	1.69e-6	SMART
low complexity region	138	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148242

SMART Domains

Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	98	109	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155200

SMART Domains

Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163666

SMART Domains

Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796

Domain	Start	End	E-Value	Type
DEXDc	51	249	3.61e-60	SMART
HELICc	286	367	1.04e-33	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (37/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced antigen presenting activity in dendritic cells in response to ovalbumin stimulation. Mice homozygous for another knock-out allele exhibit increased bone and dysfunctional osteoclasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	T	C	8: 120,342,180 (GRCm39)	L307P	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
C1qbp	T	C	11: 70,868,929 (GRCm39)	N278D	probably benign	Het
Cdc37l1	T	G	19: 28,972,518 (GRCm39)	N70K	probably damaging	Het
Cyp3a57	T	C	5: 145,309,421 (GRCm39)	V253A	possibly damaging	Het
Dnmt1	A	G	9: 20,829,575 (GRCm39)	F795S	probably damaging	Het
Gli3	T	A	13: 15,889,658 (GRCm39)	S591T	probably damaging	Het
Gmeb1	A	T	4: 131,953,349 (GRCm39)	S472R	probably benign	Het
Gpr158	T	C	2: 21,832,037 (GRCm39)	S1046P	probably benign	Het
Grik5	A	G	7: 24,745,660 (GRCm39)	L471P	probably damaging	Het
Hmcn2	G	A	2: 31,350,328 (GRCm39)	R5075H	possibly damaging	Het
Hspa5	G	T	2: 34,666,070 (GRCm39)	S638I	probably benign	Het
Ilf3	A	G	9: 21,307,422 (GRCm39)	Y355C	probably damaging	Het
Kalrn	T	C	16: 33,834,045 (GRCm39)	T2366A		Het
Negr1	T	A	3: 156,904,081 (GRCm39)	C315S	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or8b52	T	A	9: 38,576,655 (GRCm39)	M162L	probably benign	Het
Prr5	C	T	15: 84,583,324 (GRCm39)	Q110*	probably null	Het
Prune2	T	A	19: 17,099,034 (GRCm39)	S1513T	probably benign	Het
Ptprk	A	G	10: 28,230,731 (GRCm39)	E274G	probably damaging	Het
Qrfprl	A	C	6: 65,424,368 (GRCm39)	I174L	probably benign	Het
Rmdn3	G	A	2: 118,986,991 (GRCm39)	A12V	unknown	Het
Rpf1	A	G	3: 146,218,016 (GRCm39)	V166A	probably benign	Het
Senp5	A	C	16: 31,802,390 (GRCm39)	F554C	probably damaging	Het
Smarca2	T	C	19: 26,737,279 (GRCm39)	C65R	possibly damaging	Het
Sprr2j-ps	T	A	3: 92,326,178 (GRCm39)	C18S	unknown	Het
Sult2a6	A	T	7: 13,970,615 (GRCm39)	Y160*	probably null	Het
Taar8a	T	C	10: 23,952,753 (GRCm39)	V119A	probably benign	Het
Tmtc3	T	C	10: 100,301,896 (GRCm39)	K351R	probably benign	Het
Trpc1	A	G	9: 95,603,275 (GRCm39)	L419P	probably damaging	Het
Ttn	T	C	2: 76,641,699 (GRCm39)	K13466E	possibly damaging	Het
Unc13c	A	G	9: 73,447,662 (GRCm39)	F1846S	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r72	A	T	7: 85,404,022 (GRCm39)	N56K	probably benign	Het
Wdr12	C	A	1: 60,128,455 (GRCm39)	M98I	probably benign	Het
Zfp953	T	C	13: 67,491,457 (GRCm39)	Y165C	possibly damaging	Het

Other mutations in Cd68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Cd68	APN	11	69,556,676 (GRCm39)	missense	probably damaging	1.00
IGL01918:Cd68	APN	11	69,555,927 (GRCm39)	missense	possibly damaging	0.91
R1474:Cd68	UTSW	11	69,555,754 (GRCm39)	unclassified	probably benign
R1556:Cd68	UTSW	11	69,556,676 (GRCm39)	missense	probably damaging	1.00
R5014:Cd68	UTSW	11	69,556,165 (GRCm39)	missense	probably damaging	1.00
R5397:Cd68	UTSW	11	69,556,484 (GRCm39)	missense	probably benign	0.00
R5656:Cd68	UTSW	11	69,555,247 (GRCm39)	missense	probably damaging	0.96
R7425:Cd68	UTSW	11	69,555,938 (GRCm39)	missense	probably benign	0.30
R7442:Cd68	UTSW	11	69,556,754 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCTTGCATTTCCACAGCAG -3'
(R):5'- ATACAGCTTGAGTTTGTCTCTATCC -3'

Sequencing Primer
(F):5'- GCAGAAGCTTTGGCCCAAG -3'
(R):5'- ATTCTTCCATATCCCATACCTGTAC -3'

Posted On

2022-03-25