Mutagenetix > Incidental Mutation

Incidental Mutation 'R7142:Cd93'

553451

Institutional Source

Beutler Lab

Gene Symbol

Cd93

Ensembl Gene

ENSMUSG00000027435

Gene Name

CD93 antigen

Synonyms

C1qrp, Ly68, 6030404G09Rik, AA4.1, C1qr1

MMRRC Submission

045250-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148278571-148285455 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 148283725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 540 (W540*)

Ref Sequence

ENSEMBL: ENSMUSP00000096876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099269]

AlphaFold

O89103

Predicted Effect

probably null
Transcript: ENSMUST00000099269
AA Change: W540*

SMART Domains

Protein: ENSMUSP00000096876
Gene: ENSMUSG00000027435
AA Change: W540*

Domain	Start	End	E-Value	Type
CLECT	23	180	5.04e-7	SMART
EGF	260	298	2.56e-3	SMART
EGF	302	341	3.73e-5	SMART
EGF_CA	342	381	1.33e-10	SMART
EGF_CA	382	423	4.38e-11	SMART
EGF_CA	424	465	1.33e-10	SMART
low complexity region	488	501	N/A	INTRINSIC
transmembrane domain	576	598	N/A	INTRINSIC
low complexity region	604	612	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have a defect in clearance of apoptotic cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,446 (GRCm39)	H290L	probably damaging	Het
Abca1	T	A	4: 53,082,050 (GRCm39)	S737C	probably damaging	Het
Abca14	G	C	7: 119,850,406 (GRCm39)	V753L	possibly damaging	Het
Adgrl1	C	T	8: 84,663,829 (GRCm39)	H1099Y	probably benign	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Aldh1l1	G	A	6: 90,540,398 (GRCm39)	D228N	probably damaging	Het
Cacna1e	G	T	1: 154,288,230 (GRCm39)	Q1883K	probably damaging	Het
Caskin2	A	G	11: 115,697,562 (GRCm39)	Y125H	probably benign	Het
Ccdc85a	A	T	11: 28,527,192 (GRCm39)	Y139N	probably damaging	Het
Cdh3	G	A	8: 107,271,860 (GRCm39)		probably null	Het
Chmp2b	G	A	16: 65,343,794 (GRCm39)	Q88*	probably null	Het
Cpt1a	T	C	19: 3,425,100 (GRCm39)	M489T	probably benign	Het
Ctsk	G	A	3: 95,414,259 (GRCm39)	V274M	possibly damaging	Het
Cyp3a44	A	G	5: 145,714,771 (GRCm39)	V460A	probably benign	Het
Cypt4	C	T	9: 24,536,740 (GRCm39)	R77*	probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dnah7a	A	T	1: 53,452,927 (GRCm39)	Y3850*	probably null	Het
Drosha	A	T	15: 12,924,232 (GRCm39)	T1205S	possibly damaging	Het
Eif3j2	T	C	18: 43,610,465 (GRCm39)	E116G	probably damaging	Het
Ercc5	A	G	1: 44,213,374 (GRCm39)	E790G	probably damaging	Het
Fam163b	C	T	2: 27,003,567 (GRCm39)	R29Q	probably damaging	Het
Fbxo44	C	T	4: 148,243,269 (GRCm39)	G50E	unknown	Het
Foxo3	T	C	10: 42,150,591 (GRCm39)		probably null	Het
Gnal	C	T	18: 67,351,599 (GRCm39)	P386L	probably damaging	Het
Gpc5	T	A	14: 115,654,615 (GRCm39)	H478Q	probably benign	Het
Grhl2	A	T	15: 37,279,826 (GRCm39)	D178V	probably benign	Het
Gtf2i	C	A	5: 134,273,705 (GRCm39)	V755L	possibly damaging	Het
Hal	T	C	10: 93,336,513 (GRCm39)	V414A	possibly damaging	Het
Hmx2	T	C	7: 131,157,465 (GRCm39)	V193A	probably damaging	Het
Il17a	T	A	1: 20,802,327 (GRCm39)	M12K	probably benign	Het
Invs	T	A	4: 48,407,696 (GRCm39)	I557N	probably damaging	Het
Kng1	T	A	16: 22,898,170 (GRCm39)	H523Q	probably benign	Het
Lrp4	T	A	2: 91,325,339 (GRCm39)	I1388N	probably damaging	Het
Mboat4	A	G	8: 34,587,291 (GRCm39)	I63V	probably benign	Het
Mcoln2	G	A	3: 145,889,324 (GRCm39)		probably null	Het
Mgat5	A	T	1: 127,339,924 (GRCm39)	D435V	probably damaging	Het
Mri1	C	A	8: 84,983,753 (GRCm39)	R46L	probably damaging	Het
Mxra8	A	T	4: 155,927,519 (GRCm39)	Y409F	probably benign	Het
Nlrp1b	T	A	11: 71,062,901 (GRCm39)	R720*	probably null	Het
Ofcc1	T	C	13: 40,157,538 (GRCm39)	I887V	probably benign	Het
Or5l13	T	C	2: 87,780,056 (GRCm39)	I174V	probably benign	Het
Otud4	T	A	8: 80,399,391 (GRCm39)		probably null	Het
P3h1	T	A	4: 119,104,358 (GRCm39)	D626E	probably benign	Het
Pde2a	A	T	7: 101,153,857 (GRCm39)	D485V	probably damaging	Het
Phldb2	G	A	16: 45,577,539 (GRCm39)	R1129*	probably null	Het
Pkn1	T	C	8: 84,420,596 (GRCm39)	E10G	possibly damaging	Het
Psd2	A	G	18: 36,113,097 (GRCm39)	D264G	possibly damaging	Het
Psg29	A	G	7: 16,944,546 (GRCm39)	D352G	probably damaging	Het
Rgs14	T	C	13: 55,527,417 (GRCm39)	S218P	probably damaging	Het
Sec14l2	T	C	11: 4,048,379 (GRCm39)	T380A	probably benign	Het
Septin12	T	C	16: 4,806,226 (GRCm39)	T312A	unknown	Het
Skint5	A	T	4: 113,428,791 (GRCm39)	V1075E	unknown	Het
Ston2	A	G	12: 91,614,009 (GRCm39)	S800P	probably damaging	Het
Tmem106b	A	G	6: 13,081,564 (GRCm39)	N157S	probably damaging	Het
Tmem132b	G	A	5: 125,699,737 (GRCm39)	G133S	probably damaging	Het
Tmie	A	T	9: 110,699,749 (GRCm39)	M55K	possibly damaging	Het
Trpc6	A	T	9: 8,653,017 (GRCm39)	R608*	probably null	Het
Unc93a2	G	A	17: 7,644,021 (GRCm39)	T96I	probably damaging	Het
Usp35	A	G	7: 96,960,754 (GRCm39)	S891P	probably damaging	Het
Vmn1r178	A	G	7: 23,593,035 (GRCm39)	T28A	probably damaging	Het
Wnk1	T	A	6: 119,926,240 (GRCm39)	M1324L	probably benign	Het
Wrnip1	C	A	13: 32,986,616 (GRCm39)	S132R	possibly damaging	Het
Wsb1	T	C	11: 79,141,814 (GRCm39)	K68E	probably benign	Het
Zfp433	A	T	10: 81,556,040 (GRCm39)	K181*	probably null	Het

Other mutations in Cd93

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0076:Cd93	UTSW	2	148,284,056 (GRCm39)	missense	probably benign
R0379:Cd93	UTSW	2	148,283,430 (GRCm39)	splice site	probably benign
R1951:Cd93	UTSW	2	148,283,778 (GRCm39)	missense	probably benign	0.01
R2399:Cd93	UTSW	2	148,284,071 (GRCm39)	missense	probably benign	0.37
R4231:Cd93	UTSW	2	148,284,880 (GRCm39)	missense	probably benign	0.02
R4830:Cd93	UTSW	2	148,285,299 (GRCm39)	nonsense	probably null
R5940:Cd93	UTSW	2	148,284,152 (GRCm39)	missense	probably benign	0.25
R6057:Cd93	UTSW	2	148,283,439 (GRCm39)	missense	probably damaging	1.00
R6797:Cd93	UTSW	2	148,284,044 (GRCm39)	missense	probably benign	0.00
R7184:Cd93	UTSW	2	148,284,459 (GRCm39)	missense	possibly damaging	0.76
R7276:Cd93	UTSW	2	148,283,660 (GRCm39)	missense	probably damaging	0.98
R7315:Cd93	UTSW	2	148,284,461 (GRCm39)	missense	probably damaging	1.00
R8750:Cd93	UTSW	2	148,285,080 (GRCm39)	missense	probably benign	0.00
R8897:Cd93	UTSW	2	148,283,532 (GRCm39)	missense	probably benign	0.34
R9069:Cd93	UTSW	2	148,284,071 (GRCm39)	missense	probably benign	0.37
Z1088:Cd93	UTSW	2	148,284,284 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- ATGAGAATCCCTAGGGCCAG -3'
(R):5'- TCTTTTGTAGCAGGGGCAC -3'

Sequencing Primer
(F):5'- GCCAGCACCAGCAAGAGTG -3'
(R):5'- GTGTTTTCTGAACTACCAGCCAGG -3'

Posted On

2019-05-15