Mutagenetix > Incidental Mutation

Incidental Mutation 'R7276:Cd93'

565562

Institutional Source

Beutler Lab

Gene Symbol

Cd93

Ensembl Gene

ENSMUSG00000027435

Gene Name

CD93 antigen

Synonyms

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

MMRRC Submission

045359-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148278571-148285455 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148283660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 562 (V562E)

Ref Sequence

ENSEMBL: ENSMUSP00000096876 (fasta)

Gene Model

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

AlphaFold

O89103

Predicted Effect

probably damaging
Transcript: ENSMUST00000099269
AA Change: V562E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096876
Gene: ENSMUSG00000027435
AA Change: V562E

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: 99.0%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	C	3: 116,762,227 (GRCm39)	V26A	unknown	Het
4930546C10Rik	C	T	18: 69,083,093 (GRCm39)	W40*	probably null	Het
Abcc5	T	C	16: 20,195,258 (GRCm39)		probably null	Het
Adamts18	T	A	8: 114,501,896 (GRCm39)	M322L	probably damaging	Het
Ankrd44	T	A	1: 54,774,239 (GRCm39)	N406I	probably benign	Het
Arhgap35	T	G	7: 16,298,493 (GRCm39)	T191P	probably damaging	Het
Atg3	G	A	16: 44,982,805 (GRCm39)	E37K	possibly damaging	Het
Bbs1	A	T	19: 4,947,738 (GRCm39)		probably null	Het
BC048562	A	G	9: 108,322,435 (GRCm39)	N60D	probably damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
C7	A	T	15: 5,041,449 (GRCm39)	C486S	probably damaging	Het
Cchcr1	C	A	17: 35,840,031 (GRCm39)	Q634K	possibly damaging	Het
Cemip2	A	G	19: 21,812,824 (GRCm39)	I1010V	probably benign	Het
Cript	T	A	17: 87,341,696 (GRCm39)	Y50*	probably null	Het
Dnah14	T	A	1: 181,513,372 (GRCm39)	F1908L	probably benign	Het
Dnah5	A	G	15: 28,367,984 (GRCm39)	N2790D	probably damaging	Het
Eif3h	C	A	15: 51,728,717 (GRCm39)		probably null	Het
Ffar3	C	G	7: 30,555,273 (GRCm39)	V16L	possibly damaging	Het
Gcn1	C	T	5: 115,749,119 (GRCm39)	R1884W	probably damaging	Het
Gpatch1	T	A	7: 34,996,921 (GRCm39)	M426L	probably benign	Het
Hcn2	T	A	10: 79,564,934 (GRCm39)	Y449N	possibly damaging	Het
Hdac10	T	C	15: 89,012,488 (GRCm39)	T32A	probably benign	Het
Hykk	T	C	9: 54,853,502 (GRCm39)	Y275H	probably damaging	Het
Igfn1	G	C	1: 135,926,376 (GRCm39)	P25A	possibly damaging	Het
Jph1	T	C	1: 17,162,266 (GRCm39)	Q132R	probably damaging	Het
Kat2b	T	A	17: 53,931,450 (GRCm39)	D149E	probably damaging	Het
Knl1	A	T	2: 118,902,167 (GRCm39)	K1289N	probably damaging	Het
Lrrc37a	G	A	11: 103,347,572 (GRCm39)	S3041L	unknown	Het
Mtrex	A	T	13: 113,050,973 (GRCm39)	Y201N	probably benign	Het
Mtus2	C	T	5: 148,013,368 (GRCm39)	R54C	probably benign	Het
Myo1d	A	T	11: 80,583,898 (GRCm39)	I38N	probably damaging	Het
Nasp	A	G	4: 116,471,546 (GRCm39)	S94P	probably damaging	Het
Nfat5	C	A	8: 108,093,731 (GRCm39)	N657K	probably benign	Het
Ngfr	A	G	11: 95,465,170 (GRCm39)	L226P	probably benign	Het
Nos1	T	C	5: 118,048,303 (GRCm39)	S703P	probably damaging	Het
Nsun7	A	G	5: 66,434,484 (GRCm39)	D275G	probably benign	Het
Oas1d	A	G	5: 121,054,944 (GRCm39)	N172S	possibly damaging	Het
Or11h4	A	G	14: 50,974,187 (GRCm39)	V144A	possibly damaging	Het
Or2y17	T	A	11: 49,231,821 (GRCm39)	M154K	probably benign	Het
Or4c11b	T	A	2: 88,625,025 (GRCm39)	F100I	probably damaging	Het
Or52e8	T	A	7: 104,624,857 (GRCm39)	M116L	possibly damaging	Het
Papss1	A	G	3: 131,324,995 (GRCm39)	E484G	probably benign	Het
Pcdh15	A	G	10: 74,160,224 (GRCm39)	D447G	probably benign	Het
Phkg2	A	G	7: 127,181,558 (GRCm39)	E247G	possibly damaging	Het
Pramel30	A	G	4: 144,059,216 (GRCm39)	E309G	possibly damaging	Het
Prelid2	T	C	18: 42,045,487 (GRCm39)	N141S	possibly damaging	Het
Psg18	T	C	7: 18,079,909 (GRCm39)	M431V	probably damaging	Het
Psmd12	A	T	11: 107,394,471 (GRCm39)	R397*	probably null	Het
Ralgds	G	A	2: 28,435,884 (GRCm39)	R503Q	probably damaging	Het
Rb1cc1	G	A	1: 6,319,416 (GRCm39)	C945Y	probably benign	Het
Rgs12	A	G	5: 35,183,715 (GRCm39)	D1026G	probably benign	Het
Scn7a	G	A	2: 66,587,506 (GRCm39)	P66S	probably damaging	Het
Supt16	T	C	14: 52,414,458 (GRCm39)	E448G	probably benign	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tas2r114	T	C	6: 131,666,310 (GRCm39)	I239M	probably damaging	Het
Tecpr1	C	T	5: 144,153,838 (GRCm39)	W138*	probably null	Het
Tex101	T	C	7: 24,369,829 (GRCm39)	N45S	probably damaging	Het
Tmx1	C	A	12: 70,512,917 (GRCm39)	T275K	possibly damaging	Het
Trappc8	T	G	18: 20,951,148 (GRCm39)	I1434L	probably damaging	Het
Trappc9	G	T	15: 72,924,119 (GRCm39)	H208N	probably damaging	Het
Trcg1	T	A	9: 57,149,862 (GRCm39)	L478Q	probably damaging	Het
Trim42	G	T	9: 97,251,625 (GRCm39)	Y91*	probably null	Het
Vmn2r114	A	G	17: 23,509,934 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	T	C	17: 57,831,881 (GRCm39)	T303A	probably benign	Het
Vmn2r13	A	G	5: 109,321,645 (GRCm39)	W351R	probably damaging	Het
Vmn2r53	T	C	7: 12,340,359 (GRCm39)	D38G	probably damaging	Het
Vsig8	C	A	1: 172,390,850 (GRCm39)	C411*	probably null	Het
Vwce	A	T	19: 10,641,538 (GRCm39)	T755S	possibly damaging	Het
Wwp1	T	C	4: 19,611,782 (GRCm39)	S897G	probably damaging	Het
Zfp111	C	A	7: 23,898,978 (GRCm39)	C212F	probably damaging	Het
Zfp385b	G	T	2: 77,280,624 (GRCm39)	H193N	probably damaging	Het
Zfp811	T	C	17: 33,017,755 (GRCm39)	E95G	probably benign	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
R7142:Cd93	UTSW	2	148,283,725 (GRCm39)	nonsense	probably null
R7184:Cd93	UTSW	2	148,284,459 (GRCm39)	missense	possibly damaging	0.76
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'- TACCTGTACTGATTCTCCGGGG -3'
(R):5'- ATGTCTCCAACAGAGCACAG -3'

Sequencing Primer
(F):5'- TGGAACCCAGGAATAGCTGTC -3'
(R):5'- GACAACAGGTCTCTTCGTCCAATC -3'

Posted On

2019-06-26