Mutagenetix > Incidental Mutation

Incidental Mutation 'R1474:Cd68'

163937

Institutional Source

Beutler Lab

Gene Symbol

Cd68

Ensembl Gene

ENSMUSG00000018774

Gene Name

CD68 antigen

Synonyms

Lamp4, macrosialin, Scard1, gp110

MMRRC Submission

039527-MU

Accession Numbers

Essential gene?

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

Stock #

R1474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69555039-69556979 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 69555754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127034 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000083928

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

noncoding transcript
Transcript: ENSMUST00000122759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133067

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: 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: 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: 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

noncoding transcript
Transcript: ENSMUST00000158917

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: 99.3%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

95% (104/110)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	A	11: 109,960,635 (GRCm39)	A628S	probably damaging	Het
Abca9	T	C	11: 110,036,405 (GRCm39)	N568S	probably damaging	Het
Ada	C	T	2: 163,574,814 (GRCm39)	A108T	possibly damaging	Het
Adam6a	T	A	12: 113,508,069 (GRCm39)	D147E	possibly damaging	Het
Ampd1	A	T	3: 103,006,154 (GRCm39)	T655S	probably damaging	Het
Ankk1	A	G	9: 49,327,139 (GRCm39)	F680S	probably damaging	Het
Asap1	G	A	15: 63,991,869 (GRCm39)	T783I	probably benign	Het
Astn1	T	A	1: 158,329,923 (GRCm39)	N259K	probably damaging	Het
Birc6	T	C	17: 74,886,673 (GRCm39)	V667A	probably damaging	Het
Brat1	G	A	5: 140,698,382 (GRCm39)	V185I	probably benign	Het
Btnl6	T	C	17: 34,732,620 (GRCm39)	Y318C	probably damaging	Het
Caskin2	G	A	11: 115,694,522 (GRCm39)	P360S	probably benign	Het
Ccdc121rt3	T	C	5: 112,503,642 (GRCm39)	T21A	probably benign	Het
Cdca2	T	C	14: 67,952,355 (GRCm39)		probably benign	Het
Cdk6	G	A	5: 3,523,217 (GRCm39)	M212I	probably benign	Het
Ceacam5	T	A	7: 17,481,159 (GRCm39)	F302Y	probably damaging	Het
Celsr2	T	C	3: 108,301,055 (GRCm39)	E2746G	possibly damaging	Het
Clec4a4	G	A	6: 122,989,703 (GRCm39)	V115I	probably benign	Het
Clip3	C	A	7: 29,998,307 (GRCm39)	A251E	possibly damaging	Het
Cmah	T	C	13: 24,623,180 (GRCm39)	L350P	probably damaging	Het
Cntnap5a	C	T	1: 116,370,103 (GRCm39)	R907*	probably null	Het
Cntnap5b	T	C	1: 99,999,814 (GRCm39)	Y191H	probably benign	Het
Col4a4	A	T	1: 82,458,207 (GRCm39)	C1122*	probably null	Het
Coq5	A	G	5: 115,433,842 (GRCm39)		probably benign	Het
Cpxcr1	A	G	X: 115,387,136 (GRCm39)	K16E	possibly damaging	Het
Dclk3	T	C	9: 111,298,304 (GRCm39)	I616T	probably benign	Het
Dhrs3	A	T	4: 144,646,057 (GRCm39)	T122S	probably damaging	Het
Dnm1	T	C	2: 32,210,596 (GRCm39)	I502V	probably benign	Het
Dscaml1	G	T	9: 45,596,519 (GRCm39)	G788W	probably damaging	Het
Dusp10	C	T	1: 183,769,645 (GRCm39)		probably null	Het
Ehbp1l1	C	A	19: 5,769,112 (GRCm39)	L730F	possibly damaging	Het
Eif2ak1	C	T	5: 143,808,785 (GRCm39)	H75Y	probably damaging	Het
Evi2a	T	C	11: 79,418,398 (GRCm39)	T71A	probably benign	Het
Fam184a	A	T	10: 53,511,461 (GRCm39)	S1073T	probably damaging	Het
Fam227a	T	C	15: 79,499,582 (GRCm39)	Y591C	probably damaging	Het
Fam83a	C	T	15: 57,873,272 (GRCm39)	T367M	probably benign	Het
Fam83g	A	G	11: 61,593,819 (GRCm39)	D451G	probably damaging	Het
Fbn1	A	G	2: 125,203,185 (GRCm39)	F1213L	possibly damaging	Het
Fcgbp	G	A	7: 27,791,273 (GRCm39)	V845I	probably benign	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxn1	T	A	11: 78,251,933 (GRCm39)	M433L	probably benign	Het
Gm6632	T	G	5: 59,211,679 (GRCm39)		noncoding transcript	Het
Gnl3	A	T	14: 30,738,418 (GRCm39)		probably benign	Het
Hhipl1	C	T	12: 108,277,996 (GRCm39)	T108I	probably damaging	Het
Hs2st1	A	T	3: 144,141,256 (GRCm39)	F271I	possibly damaging	Het
Ido1	T	C	8: 25,074,462 (GRCm39)	S303G	probably damaging	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Kcnc2	A	G	10: 112,292,305 (GRCm39)	K49E	probably damaging	Het
Kif3b	T	A	2: 153,162,235 (GRCm39)	V482E	probably damaging	Het
Ldlrad2	G	A	4: 137,299,525 (GRCm39)	P100S	probably benign	Het
Lrba	G	T	3: 86,687,573 (GRCm39)		probably benign	Het
Lsm11	A	T	11: 45,824,730 (GRCm39)	W266R	probably benign	Het
Mob3a	A	T	10: 80,522,988 (GRCm39)	M215K	probably benign	Het
Mterf1b	T	G	5: 4,247,163 (GRCm39)	L268R	probably damaging	Het
Mvk	T	C	5: 114,598,157 (GRCm39)	F365L	probably damaging	Het
Myo16	T	A	8: 10,552,796 (GRCm39)	F945I	probably damaging	Het
Myo1f	G	T	17: 33,813,001 (GRCm39)	K602N	possibly damaging	Het
Nr2c2ap	A	T	8: 70,585,765 (GRCm39)	M108L	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Ogfrl1	A	G	1: 23,414,890 (GRCm39)	F206L	probably damaging	Het
Ola1	A	T	2: 72,987,188 (GRCm39)	I148N	probably damaging	Het
Or14c46	G	T	7: 85,918,270 (GRCm39)	H242Q	probably damaging	Het
Or4d10b	T	A	19: 12,036,844 (GRCm39)	T91S	probably benign	Het
Or51f1d	A	G	7: 102,701,288 (GRCm39)	Y261C	probably damaging	Het
Or6c2	A	T	10: 129,362,824 (GRCm39)	M243L	probably benign	Het
Or9m2	A	G	2: 87,821,334 (GRCm39)	N293S	probably damaging	Het
Otof	A	G	5: 30,536,876 (GRCm39)		probably null	Het
Pah	G	T	10: 87,414,175 (GRCm39)	K341N	probably damaging	Het
Pfdn5	T	A	15: 102,236,946 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,216,202 (GRCm39)	C960R	probably damaging	Het
Pitx2	T	C	3: 129,012,488 (GRCm39)	V306A	probably damaging	Het
Pkd1l2	C	A	8: 117,792,236 (GRCm39)		probably benign	Het
Plekho1	T	C	3: 95,896,878 (GRCm39)	E197G	probably damaging	Het
Polr2i	A	G	7: 29,932,227 (GRCm39)	N34S	probably damaging	Het
Psph	A	T	5: 129,848,614 (GRCm39)	D22E	probably damaging	Het
Ptprs	C	A	17: 56,731,128 (GRCm39)	A687S	probably damaging	Het
Ralgapa1	T	C	12: 55,788,265 (GRCm39)	K606R	probably benign	Het
Rigi	A	G	4: 40,208,868 (GRCm39)	V703A	possibly damaging	Het
Rims1	A	G	1: 22,577,362 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,576 (GRCm39)	P2002L	probably damaging	Het
Ryr3	A	T	2: 112,740,307 (GRCm39)	C555S	probably damaging	Het
Sftpd	C	A	14: 40,894,384 (GRCm39)	G345V	probably damaging	Het
Slc41a1	T	A	1: 131,774,319 (GRCm39)	M462K	probably damaging	Het
Slc44a2	A	G	9: 21,264,990 (GRCm39)	E676G	probably damaging	Het
Sox6	T	A	7: 115,300,926 (GRCm39)		probably benign	Het
Spdye4b	G	A	5: 143,181,472 (GRCm39)	R109Q	probably damaging	Het
Spef1l	C	A	7: 139,556,555 (GRCm39)	R144L	probably benign	Het
Spink8	A	T	9: 109,649,706 (GRCm39)	I63L	probably damaging	Het
St3gal3	A	G	4: 117,871,983 (GRCm39)	L73P	probably damaging	Het
Stab1	A	G	14: 30,871,818 (GRCm39)	L1247P	probably benign	Het
Tat	A	G	8: 110,718,195 (GRCm39)	R27G	probably benign	Het
Tcerg1l	C	T	7: 137,881,804 (GRCm39)	R295H	probably damaging	Het
Tfrc	T	C	16: 32,445,467 (GRCm39)	V596A	probably damaging	Het
Tgfb3	C	T	12: 86,116,120 (GRCm39)		probably null	Het
Tmed5	A	T	5: 108,280,248 (GRCm39)	S15T	probably benign	Het
Tph1	A	T	7: 46,303,286 (GRCm39)	S231T	probably benign	Het
Trim30d	G	A	7: 104,121,701 (GRCm39)	S198L	probably damaging	Het
Trpm6	T	C	19: 18,773,859 (GRCm39)	M412T	probably benign	Het
Ttn	G	T	2: 76,612,589 (GRCm39)	D15417E	probably benign	Het
U2surp	A	G	9: 95,375,251 (GRCm39)	I157T	possibly damaging	Het
Ubr4	A	G	4: 139,156,890 (GRCm39)	D2305G	probably damaging	Het
Uvssa	A	G	5: 33,546,165 (GRCm39)	K179E	probably benign	Het
Vps35l	T	C	7: 118,359,436 (GRCm39)	F230S	probably damaging	Het
Xirp2	A	G	2: 67,355,411 (GRCm39)	K3391E	probably benign	Het
Xpo7	T	A	14: 70,936,473 (GRCm39)	H170L	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,404 (GRCm39)	W393R	probably benign	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
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
R9317:Cd68	UTSW	11	69,555,860 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACCCATAGGTGAGAGCAGTCAGC -3'
(R):5'- CTGGACTACATGGCGGTGGAATAC -3'

Sequencing Primer
(F):5'- TTACATGGCCCGAAGTGTC -3'
(R):5'- GTGGAATACAATGTGTCCTTCCC -3'

Posted On

2014-03-28