Mutagenetix > Incidental Mutation

Incidental Mutation 'R2057:Cd84'

228233

Institutional Source

Beutler Lab

Gene Symbol

Cd84

Ensembl Gene

ENSMUSG00000038147

Gene Name

CD84 antigen

Synonyms

SLAMF5, CDw84, A130013D22Rik

MMRRC Submission

040062-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2057 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171667265-171718285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171700317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 145 (T145A)

Ref Sequence

ENSEMBL: ENSMUSP00000120881 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042302
AA Change: T145A

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047024
Gene: ENSMUSG00000038147
AA Change: T145A

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

possibly damaging
Transcript: ENSMUST00000136479
AA Change: T145A

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122951
Gene: ENSMUSG00000038147
AA Change: T145A

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: T145A

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120881
Gene: ENSMUSG00000038147
AA Change: T145A

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

0.2120

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,806,477 (GRCm39)	K764E	probably damaging	Het
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ago1	C	T	4: 126,337,021 (GRCm39)	R228H	probably damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apob	A	T	12: 8,052,164 (GRCm39)	R1202*	probably null	Het
Arfgap3	G	T	15: 83,194,501 (GRCm39)	D389E	probably benign	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atoh8	T	C	6: 72,212,112 (GRCm39)	K13E	probably damaging	Het
Bicral	G	T	17: 47,135,814 (GRCm39)	N465K	possibly damaging	Het
Bves	T	A	10: 45,219,231 (GRCm39)	Y110N	probably damaging	Het
C4b	A	G	17: 34,947,594 (GRCm39)	Y1695H	probably damaging	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Caskin1	G	T	17: 24,715,433 (GRCm39)	G93V	probably damaging	Het
Cd34	T	C	1: 194,641,450 (GRCm39)	V292A	probably damaging	Het
Cdh16	C	A	8: 105,348,597 (GRCm39)	G144*	probably null	Het
Chaf1b	T	A	16: 93,691,795 (GRCm39)	H280Q	probably damaging	Het
Chpf2	G	A	5: 24,796,220 (GRCm39)	G389R	probably damaging	Het
Crb1	T	C	1: 139,242,488 (GRCm39)	Y330C	probably damaging	Het
Cux2	A	T	5: 122,007,567 (GRCm39)	V698E	probably benign	Het
Dhtkd1	A	G	2: 5,947,430 (GRCm39)	V18A	unknown	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Enpp1	C	G	10: 24,536,090 (GRCm39)	A437P	probably damaging	Het
Fat2	C	T	11: 55,172,686 (GRCm39)	V2676I	possibly damaging	Het
Fzd2	A	G	11: 102,496,759 (GRCm39)	D401G	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gnai3	C	T	3: 108,019,812 (GRCm39)	V233I	probably benign	Het
Golim4	T	A	3: 75,802,194 (GRCm39)	D366V	possibly damaging	Het
Grin1	T	A	2: 25,206,832 (GRCm39)	T110S	probably damaging	Het
Grin2a	A	G	16: 9,487,608 (GRCm39)	V430A	probably benign	Het
Gstp3	G	A	19: 4,109,282 (GRCm39)	T5I	probably damaging	Het
Il17rb	T	A	14: 29,719,111 (GRCm39)	M324L	probably benign	Het
Jmy	A	G	13: 93,596,211 (GRCm39)	Y473H	probably damaging	Het
Khdc1b	A	G	1: 21,454,534 (GRCm39)	D79G	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Lmo7	G	C	14: 102,124,614 (GRCm39)	A358P	probably damaging	Het
Mdh1b	T	C	1: 63,760,741 (GRCm39)	I107V	probably benign	Het
Mlkl	T	C	8: 112,060,242 (GRCm39)	Q48R	probably benign	Het
Myh2	G	A	11: 67,079,665 (GRCm39)		probably null	Het
Naip1	T	A	13: 100,562,081 (GRCm39)	Q1028L	probably damaging	Het
Ncald	T	A	15: 37,397,423 (GRCm39)	I86F	possibly damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Or1p1	A	G	11: 74,179,652 (GRCm39)	Y60C	probably damaging	Het
Or9r3	A	T	10: 129,947,859 (GRCm39)	S267T	probably benign	Het
Pak1	T	A	7: 97,557,004 (GRCm39)		probably null	Het
Parpbp	T	A	10: 87,960,824 (GRCm39)	M221L	probably benign	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Phf19	G	T	2: 34,789,620 (GRCm39)	R367S	probably benign	Het
Plcl2	A	G	17: 50,975,139 (GRCm39)		probably null	Het
Plxnb1	A	T	9: 108,938,294 (GRCm39)	I1283F	possibly damaging	Het
Pramel6	T	A	2: 87,339,059 (GRCm39)	N86K	possibly damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prpf40a	A	T	2: 53,034,851 (GRCm39)	I779K	probably damaging	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptpn20	A	T	14: 33,352,942 (GRCm39)	E227V	probably damaging	Het
Rad54b	C	T	4: 11,606,088 (GRCm39)	R499C	probably benign	Het
Rarg	C	A	15: 102,147,939 (GRCm39)	A291S	probably damaging	Het
Rnf169	A	T	7: 99,574,615 (GRCm39)	L660Q	probably damaging	Het
Scn4a	A	G	11: 106,226,550 (GRCm39)	V670A	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc35g2	G	A	9: 100,435,329 (GRCm39)	A114V	probably damaging	Het
Slc7a14	A	T	3: 31,291,645 (GRCm39)	V211E	probably damaging	Het
Snrpn	A	T	7: 59,637,204 (GRCm39)	H37Q	possibly damaging	Het
Spock3	T	A	8: 63,698,204 (GRCm39)	C185*	probably null	Het
Tbc1d4	A	G	14: 101,714,591 (GRCm39)	S627P	probably damaging	Het
Tgoln1	T	C	6: 72,592,653 (GRCm39)	T276A	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tnpo2	T	C	8: 85,776,742 (GRCm39)	L483P	probably damaging	Het
Tpte	T	A	8: 22,808,355 (GRCm39)	D163E	probably benign	Het
Trim36	A	T	18: 46,329,229 (GRCm39)	D70E	probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Wdr90	T	C	17: 26,074,173 (GRCm39)	T691A	probably benign	Het
Zdhhc8	A	G	16: 18,046,210 (GRCm39)	S118P	probably damaging	Het
Zfp438	T	C	18: 5,214,085 (GRCm39)	E291G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	probably benign	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
R1438:Cd84	UTSW	1	171,679,685 (GRCm39)	missense	probably damaging	1.00
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
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'- GTGTATCACTACCAGCACCATG -3'
(R):5'- ACAGAGTCAGAACTGTTGCTG -3'

Sequencing Primer
(F):5'- ttgctggtttcagctcac -3'
(R):5'- CTGACAGGGTTCTGGGCTGTAC -3'

Posted On

2014-09-17