Mutagenetix > Incidental Mutation

Incidental Mutation 'R8297:Cd5'

639050

Institutional Source

Beutler Lab

Gene Symbol

Cd5

Ensembl Gene

ENSMUSG00000024669

Gene Name

CD5 antigen

Synonyms

Ly-A, Ly-1, Ly-12, Lyt-1

MMRRC Submission

067853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10695471-10716390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10697609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 457 (R457W)

Ref Sequence

ENSEMBL: ENSMUSP00000025571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025571]

AlphaFold

P13379

Predicted Effect

probably damaging
Transcript: ENSMUST00000025571
AA Change: R457W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025571
Gene: ENSMUSG00000024669
AA Change: R457W

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
SR	34	133	7.43e-19	SMART
low complexity region	138	157	N/A	INTRINSIC
SR	276	367	7.27e-4	SMART
transmembrane domain	379	401	N/A	INTRINSIC
low complexity region	402	415	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. This protein is a type-I transmembrane glycoprotein found on the surface of thymocytes, T lymphocytes and a subset of B lymphocytes. The encoded protein contains three SRCR domains and may act as a receptor to regulate T-cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,578 (GRCm39)	L73P	probably damaging	Het
4933412E24Rik	T	G	15: 59,887,524 (GRCm39)	R305S	probably damaging	Het
Adamts19	T	A	18: 58,970,920 (GRCm39)	V168E	probably damaging	Het
Ankrd34b	T	A	13: 92,576,097 (GRCm39)	L443Q	probably damaging	Het
Ano3	A	G	2: 110,491,616 (GRCm39)	Y887H	probably damaging	Het
Arhgef2	A	T	3: 88,546,739 (GRCm39)	H553L	probably benign	Het
Atxn1	G	T	13: 45,720,505 (GRCm39)	N463K	probably benign	Het
Birc6	A	G	17: 74,932,099 (GRCm39)		probably null	Het
C4bp	A	G	1: 130,564,482 (GRCm39)	S401P	probably damaging	Het
Chek2	T	G	5: 110,996,302 (GRCm39)	Y127D	probably damaging	Het
Clec4a1	G	A	6: 122,898,960 (GRCm39)	V10M	probably damaging	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Cops2	T	C	2: 125,701,028 (GRCm39)		probably benign	Het
Cyb5d2	A	G	11: 72,679,929 (GRCm39)	F122S	probably damaging	Het
Daam1	T	A	12: 71,998,689 (GRCm39)	L548H	unknown	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dsg1a	A	C	18: 20,465,090 (GRCm39)	N427T	probably benign	Het
Ear14	A	T	14: 51,441,564 (GRCm39)	D140V	probably damaging	Het
Epha4	A	C	1: 77,483,547 (GRCm39)	F154C	probably damaging	Het
Ets2	G	A	16: 95,507,321 (GRCm39)	V12M	probably damaging	Het
Fbxo40	G	A	16: 36,789,670 (GRCm39)	T480I	probably damaging	Het
Fdps	A	T	3: 89,001,048 (GRCm39)	Y322N	probably damaging	Het
Gca	T	C	2: 62,516,700 (GRCm39)	M132T	probably benign	Het
Ifi203	T	G	1: 173,765,496 (GRCm39)	K26T	probably damaging	Het
Itga10	A	G	3: 96,562,116 (GRCm39)	R668G	probably damaging	Het
Itgal	T	C	7: 126,929,638 (GRCm39)	I1185T	unknown	Het
Kcnj13	A	T	1: 87,314,189 (GRCm39)	N344K	probably damaging	Het
Kdm5a	A	T	6: 120,358,516 (GRCm39)	L186F	probably benign	Het
Klhl8	T	C	5: 104,010,954 (GRCm39)	N624D	probably benign	Het
Klrb1	G	T	6: 128,689,222 (GRCm39)	T83K	possibly damaging	Het
Krt77	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	15: 101,768,407 (GRCm39)		probably benign	Het
Ltb	G	T	17: 35,413,655 (GRCm39)	R53L	probably benign	Het
Mterf3	A	G	13: 67,055,222 (GRCm39)	V69A		Het
Mvb12a	A	G	8: 71,997,888 (GRCm39)	K101E	probably damaging	Het
Nbeal2	T	A	9: 110,464,409 (GRCm39)	Q1110L	possibly damaging	Het
Neb	T	A	2: 52,198,775 (GRCm39)	T389S	possibly damaging	Het
Nol4	A	G	18: 23,173,069 (GRCm39)	F11L	probably damaging	Het
Or10p22	T	C	10: 128,826,708 (GRCm39)	L309P	possibly damaging	Het
Or2a54	A	G	6: 43,093,440 (GRCm39)	I255V	probably benign	Het
Or2h15	A	G	17: 38,441,484 (GRCm39)	S200P	probably damaging	Het
Or52e8b	C	T	7: 104,673,885 (GRCm39)	G97R	probably benign	Het
Pde2a	T	A	7: 101,153,880 (GRCm39)	Y487N	possibly damaging	Het
Pde4a	C	T	9: 21,077,404 (GRCm39)	P61S	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Prr5l	A	G	2: 101,571,630 (GRCm39)		probably null	Het
Ptpn6	G	A	6: 124,705,614 (GRCm39)	T179I	possibly damaging	Het
Ralyl	T	C	3: 14,104,836 (GRCm39)	S34P	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Robo2	A	T	16: 73,812,814 (GRCm39)	C293*	probably null	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Slc22a22	A	T	15: 57,122,506 (GRCm39)	V157E	probably damaging	Het
Sytl2	A	G	7: 90,034,283 (GRCm39)	T498A	probably benign	Het
Tgm6	G	A	2: 129,979,358 (GRCm39)	V163I	probably benign	Het
Tnpo3	A	T	6: 29,582,302 (GRCm39)	C187S	possibly damaging	Het
Ttn	A	G	2: 76,616,485 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,336,905 (GRCm39)	A210T	possibly damaging	Het
Vangl2	C	A	1: 171,837,513 (GRCm39)	V99F	possibly damaging	Het
Vmn1r167	C	T	7: 23,204,215 (GRCm39)	C267Y	probably damaging	Het
Vsig10l	T	C	7: 43,113,531 (GRCm39)	V161A	possibly damaging	Het
Xrcc5	G	A	1: 72,364,244 (GRCm39)	R232Q	possibly damaging	Het
Xrcc6	C	G	15: 81,913,463 (GRCm39)	F365L	probably damaging	Het
Zdhhc13	A	G	7: 48,465,257 (GRCm39)	Y389C	probably damaging	Het

Other mutations in Cd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Cd5	APN	19	10,703,659 (GRCm39)	critical splice donor site	probably null
IGL03392:Cd5	APN	19	10,703,653 (GRCm39)	splice site	probably benign
PIT4305001:Cd5	UTSW	19	10,703,750 (GRCm39)	missense	possibly damaging	0.72
R0732:Cd5	UTSW	19	10,700,649 (GRCm39)	missense	probably damaging	1.00
R1831:Cd5	UTSW	19	10,696,933 (GRCm39)	missense	probably damaging	1.00
R2086:Cd5	UTSW	19	10,700,620 (GRCm39)	missense	probably benign	0.00
R4184:Cd5	UTSW	19	10,698,638 (GRCm39)	missense	probably damaging	1.00
R6162:Cd5	UTSW	19	10,703,244 (GRCm39)	missense	probably damaging	1.00
R6894:Cd5	UTSW	19	10,716,203 (GRCm39)	missense	possibly damaging	0.91
R7138:Cd5	UTSW	19	10,697,668 (GRCm39)	missense	probably damaging	1.00
R7653:Cd5	UTSW	19	10,703,910 (GRCm39)	missense	probably benign	0.00
R8408:Cd5	UTSW	19	10,700,469 (GRCm39)	missense	possibly damaging	0.89
R8411:Cd5	UTSW	19	10,697,585 (GRCm39)	missense	probably damaging	1.00
R8699:Cd5	UTSW	19	10,702,556 (GRCm39)	missense	possibly damaging	0.67
R9663:Cd5	UTSW	19	10,703,858 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TCTCCAAAGGGACAGCAGAGAC -3'
(R):5'- TAAGCAATGGGACCTTGCTTG -3'

Sequencing Primer
(F):5'- AGACCTGTGAAGGCTGCATC -3'
(R):5'- CTTGCTTGGGAAGGACAGCAC -3'

Posted On

2020-07-28