Mutagenetix > Incidental Mutation

Incidental Mutation 'R1438:Cd84'

160746

Institutional Source

Beutler Lab

Gene Symbol

Cd84

Ensembl Gene

ENSMUSG00000038147

Gene Name

CD84 antigen

Synonyms

SLAMF5, CDw84, A130013D22Rik

MMRRC Submission

039493-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171667265-171718285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 171679685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 121 (Y121F)

Ref Sequence

ENSEMBL: ENSMUSP00000115674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042302] [ENSMUST00000135386] [ENSMUST00000136479] [ENSMUST00000155802]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042302
AA Change: Y121F

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047024
Gene: ENSMUSG00000038147
AA Change: Y121F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	26	126	3.16e-1	SMART
IG_like	137	208	1.02e1	SMART
transmembrane domain	220	242	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128189

Predicted Effect

probably damaging
Transcript: ENSMUST00000135386
AA Change: Y121F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115674
Gene: ENSMUSG00000038147
AA Change: Y121F

Domain	Start	End	E-Value	Type
IG	26	126	3.16e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136479
AA Change: Y121F

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122951
Gene: ENSMUSG00000038147
AA Change: Y121F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	26	126	3.16e-1	SMART
IG_like	137	208	1.02e1	SMART
transmembrane domain	220	242	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155802
AA Change: Y121F

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120881
Gene: ENSMUSG00000038147
AA Change: Y121F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	26	126	3.16e-1	SMART
IG_like	137	208	1.02e1	SMART
transmembrane domain	220	242	N/A	INTRINSIC

Meta Mutation Damage Score

0.4630

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele of this gene show defects in T follicular helper function and germinal center formation. Mice homozygous for a different knock-out allele display normal platelet physiology and thrombus formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	T	5: 137,552,871 (GRCm39)	I67F	probably damaging	Het
Adam24	A	T	8: 41,134,431 (GRCm39)	N633I	probably benign	Het
Adgrg6	T	C	10: 14,344,585 (GRCm39)	S123G	possibly damaging	Het
Afdn	T	A	17: 14,075,652 (GRCm39)	F940L	probably damaging	Het
Ahrr	A	T	13: 74,372,987 (GRCm39)	Y26*	probably null	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Aox3	A	T	1: 58,192,337 (GRCm39)	T536S	probably benign	Het
Boc	A	T	16: 44,309,109 (GRCm39)		probably null	Het
Cchcr1	T	C	17: 35,841,457 (GRCm39)		probably null	Het
Cct2	A	T	10: 116,890,897 (GRCm39)		probably benign	Het
Cecr2	T	A	6: 120,738,433 (GRCm39)	C275*	probably null	Het
Chchd3	C	A	6: 32,985,503 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,007,971 (GRCm39)		probably benign	Het
Col5a3	T	C	9: 20,691,253 (GRCm39)	K1131E	probably damaging	Het
Dek	A	T	13: 47,241,647 (GRCm39)	S306T	probably benign	Het
Dhx32	T	C	7: 133,339,069 (GRCm39)	E322G	possibly damaging	Het
Dlg5	T	A	14: 24,204,673 (GRCm39)	D941V	possibly damaging	Het
Dnah10	A	G	5: 124,876,009 (GRCm39)	N2559S	probably benign	Het
Dnajc3	A	G	14: 119,205,518 (GRCm39)	T171A	probably benign	Het
Eftud2	G	T	11: 102,750,868 (GRCm39)	F308L	probably damaging	Het
Elp6	T	C	9: 110,143,123 (GRCm39)	F95S	probably damaging	Het
Emsy	C	T	7: 98,270,613 (GRCm39)	V450I	possibly damaging	Het
Exoc3	A	T	13: 74,338,298 (GRCm39)	M362K	probably damaging	Het
Fat2	A	T	11: 55,178,637 (GRCm39)	D1474E	probably damaging	Het
Fcgbp	T	A	7: 27,803,158 (GRCm39)	C1587*	probably null	Het
Fosl2	T	A	5: 32,304,329 (GRCm39)	L88Q	probably damaging	Het
Fsd2	T	C	7: 81,198,621 (GRCm39)	D381G	probably benign	Het
Golim4	A	C	3: 75,863,440 (GRCm39)	S56A	probably damaging	Het
Gpr39	T	C	1: 125,800,093 (GRCm39)		probably benign	Het
Gucy1b2	T	C	14: 62,651,770 (GRCm39)	I409V	probably damaging	Het
Hivep1	A	G	13: 42,311,596 (GRCm39)	T1279A	probably benign	Het
Ifit1bl2	T	A	19: 34,596,569 (GRCm39)	Q349L	possibly damaging	Het
Kcnc1	A	T	7: 46,077,691 (GRCm39)	I498F	possibly damaging	Het
Kctd21	T	A	7: 96,996,704 (GRCm39)	I59N	probably damaging	Het
Lama5	T	A	2: 179,824,593 (GRCm39)	T2577S	probably benign	Het
Mief2	G	T	11: 60,621,140 (GRCm39)	R9M	possibly damaging	Het
Mmp3	T	C	9: 7,453,705 (GRCm39)	V442A	probably benign	Het
Nkapd1	C	A	9: 50,518,972 (GRCm39)	K213N	possibly damaging	Het
Nrxn3	C	T	12: 90,298,909 (GRCm39)	R477W	probably damaging	Het
Or12e7	A	G	2: 87,288,336 (GRCm39)	T276A	probably benign	Het
Or7a41	T	A	10: 78,871,122 (GRCm39)	V164E	possibly damaging	Het
Parp1	A	G	1: 180,418,807 (GRCm39)	T656A	probably benign	Het
Pcdhb19	A	G	18: 37,631,015 (GRCm39)	D270G	probably damaging	Het
Phlpp1	A	G	1: 106,101,142 (GRCm39)	D470G	possibly damaging	Het
Prdm1	T	C	10: 44,318,124 (GRCm39)	E248G	probably benign	Het
Prtg	C	T	9: 72,818,032 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,818,529 (GRCm39)	Y424H	probably damaging	Het
Ptprr	T	C	10: 116,092,109 (GRCm39)	V369A	probably damaging	Het
Rai1	T	G	11: 60,076,221 (GRCm39)	V95G	probably benign	Het
Rasal3	T	A	17: 32,612,509 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,260,961 (GRCm39)	E195G	probably benign	Het
Rhbdd3	T	A	11: 5,053,332 (GRCm39)	L44Q	probably damaging	Het
Ripply2	T	C	9: 86,901,713 (GRCm39)	W80R	probably damaging	Het
Rnf183	A	G	4: 62,346,760 (GRCm39)	C13R	probably damaging	Het
Rorb	A	G	19: 18,932,417 (GRCm39)	L367P	probably damaging	Het
Rpl7a-ps5	C	T	17: 58,146,135 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,114,581 (GRCm39)	N647D	probably benign	Het
Rtn1	A	T	12: 72,351,187 (GRCm39)	S341T	probably damaging	Het
Ryr3	T	C	2: 112,588,046 (GRCm39)	S2632G	probably benign	Het
Scube1	A	G	15: 83,499,227 (GRCm39)	C633R	possibly damaging	Het
Sdk1	A	T	5: 142,024,078 (GRCm39)	I723F	probably damaging	Het
Sec23a	A	T	12: 59,048,796 (GRCm39)	C109S	probably damaging	Het
Septin11	T	C	5: 93,296,287 (GRCm39)	F60L	probably damaging	Het
Sgf29	G	A	7: 126,271,063 (GRCm39)		probably null	Het
Skint5	A	G	4: 113,413,308 (GRCm39)		probably benign	Het
Smo	G	A	6: 29,755,482 (GRCm39)	V385I	possibly damaging	Het
Tada2a	G	A	11: 84,000,837 (GRCm39)	T76I	probably damaging	Het
Tas2r118	T	A	6: 23,969,422 (GRCm39)	H213L	possibly damaging	Het
Thoc5	A	T	11: 4,861,427 (GRCm39)		probably benign	Het
Tmem33	T	A	5: 67,424,634 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,546,247 (GRCm39)	L78P	probably damaging	Het
Uvssa	T	A	5: 33,571,228 (GRCm39)		probably benign	Het
Vmn2r50	A	T	7: 9,784,062 (GRCm39)	C137*	probably null	Het
Vmn2r81	A	G	10: 79,129,691 (GRCm39)	T861A	probably benign	Het
Wnt3	A	T	11: 103,699,077 (GRCm39)	N61I	probably damaging	Het
Zswim9	A	G	7: 13,011,144 (GRCm39)	I68T	possibly damaging	Het
Zzef1	T	C	11: 72,803,771 (GRCm39)	I2535T	probably damaging	Het

Other mutations in Cd84

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Cd84	APN	1	171,679,704 (GRCm39)	critical splice donor site	probably null
IGL01371:Cd84	APN	1	171,713,937 (GRCm39)	missense	probably benign	0.36
IGL03035:Cd84	APN	1	171,679,601 (GRCm39)	missense	probably damaging	0.99
IGL03098:Cd84	APN	1	171,700,267 (GRCm39)	missense	possibly damaging	0.78
R0511:Cd84	UTSW	1	171,700,494 (GRCm39)	missense	probably benign	0.00
R1244:Cd84	UTSW	1	171,679,397 (GRCm39)	missense	probably damaging	0.99
R1459:Cd84	UTSW	1	171,679,510 (GRCm39)	missense	probably benign	0.02
R1654:Cd84	UTSW	1	171,712,173 (GRCm39)	missense	possibly damaging	0.69
R1658:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R1659:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R1765:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R1771:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R1776:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R1799:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R1815:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R1816:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R1982:Cd84	UTSW	1	171,712,152 (GRCm39)	splice site	probably null
R1990:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R2056:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R2057:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R2058:Cd84	UTSW	1	171,700,317 (GRCm39)	missense	possibly damaging	0.78
R2098:Cd84	UTSW	1	171,713,148 (GRCm39)	missense	probably benign	0.07
R4674:Cd84	UTSW	1	171,700,887 (GRCm39)	missense	possibly damaging	0.82
R4675:Cd84	UTSW	1	171,700,887 (GRCm39)	missense	possibly damaging	0.82
R4806:Cd84	UTSW	1	171,679,688 (GRCm39)	missense	probably benign	0.00
R4828:Cd84	UTSW	1	171,700,315 (GRCm39)	missense	probably damaging	0.97
R4908:Cd84	UTSW	1	171,700,432 (GRCm39)	missense	probably damaging	0.96
R5366:Cd84	UTSW	1	171,700,872 (GRCm39)	missense	probably damaging	1.00
R5725:Cd84	UTSW	1	171,700,928 (GRCm39)	missense	probably benign	0.00
R5883:Cd84	UTSW	1	171,700,405 (GRCm39)	missense	possibly damaging	0.58
R6722:Cd84	UTSW	1	171,700,344 (GRCm39)	missense	probably damaging	0.98
R6966:Cd84	UTSW	1	171,713,976 (GRCm39)	missense	possibly damaging	0.93
R7513:Cd84	UTSW	1	171,712,185 (GRCm39)	missense	probably benign	0.01
R7733:Cd84	UTSW	1	171,668,226 (GRCm39)	start codon destroyed	probably null	1.00
R9123:Cd84	UTSW	1	171,712,153 (GRCm39)	critical splice acceptor site	probably null
R9134:Cd84	UTSW	1	171,679,413 (GRCm39)	missense	probably damaging	1.00
R9441:Cd84	UTSW	1	171,713,994 (GRCm39)	critical splice donor site	probably null
R9702:Cd84	UTSW	1	171,700,498 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGACAACATTGCCTGGACTTCTCAATC -3'
(R):5'- CAAAGAACAGAGGACAAATTCTGCTGC -3'

Sequencing Primer
(F):5'- GGACTTCTCAATCATCTGTTGC -3'
(R):5'- GCTAAAGTCTGTCAAGGCCAG -3'

Posted On

2014-03-14