Mutagenetix > Incidental Mutation

Incidental Mutation 'R2058:Cd84'

228333

Institutional Source

Beutler Lab

Gene Symbol

Cd84

Ensembl Gene

ENSMUSG00000038147

Gene Name

CD84 antigen

Synonyms

SLAMF5, CDw84, A130013D22Rik

MMRRC Submission

040063-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2058 (G1)

Quality Score

225

Status

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

99% (94/95)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,162,082 (GRCm39)		probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Arhgef4	A	G	1: 34,761,458 (GRCm39)	K238R	unknown	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atp2a1	G	A	7: 126,046,844 (GRCm39)	A847V	possibly damaging	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
BC051076	A	T	5: 88,111,844 (GRCm39)		noncoding transcript	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
Cd302	T	A	2: 60,082,767 (GRCm39)	I186F	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Col4a1	T	A	8: 11,260,792 (GRCm39)	D1330V	probably damaging	Het
Ctsa	T	G	2: 164,676,822 (GRCm39)	M136R	probably null	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dmwd	T	A	7: 18,814,652 (GRCm39)	L434Q	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Gcc2	T	A	10: 58,121,779 (GRCm39)	S1102T	probably benign	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gna14	G	C	19: 16,585,505 (GRCm39)		probably benign	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gulo	A	G	14: 66,228,608 (GRCm39)	V270A	possibly damaging	Het
Hps5	T	A	7: 46,417,475 (GRCm39)	D904V	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Jak3	A	T	8: 72,138,027 (GRCm39)		probably null	Het
Klhl6	T	G	16: 19,801,681 (GRCm39)	T25P	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Map3k21	A	G	8: 126,665,461 (GRCm39)	K550R	probably benign	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msh5	A	C	17: 35,248,732 (GRCm39)	V738G	probably damaging	Het
Mybph	G	A	1: 134,127,857 (GRCm39)	C473Y	probably 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
Notch3	T	C	17: 32,362,618 (GRCm39)	T1336A	probably benign	Het
Nsun4	T	C	4: 115,910,877 (GRCm39)		probably null	Het
Or1e30	A	G	11: 73,678,100 (GRCm39)	N112S	probably benign	Het
Or5m10	A	T	2: 85,717,296 (GRCm39)	T51S	possibly damaging	Het
Osgin1	A	G	8: 120,172,412 (GRCm39)	D402G	possibly damaging	Het
Patl1	A	G	19: 11,909,511 (GRCm39)	E479G	possibly damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pcdhb13	A	G	18: 37,577,620 (GRCm39)	Q666R	possibly damaging	Het
Pi4k2b	G	A	5: 52,908,022 (GRCm39)	V131I	probably benign	Het
Pkn2	G	A	3: 142,559,232 (GRCm39)	H98Y	possibly damaging	Het
Pms1	A	G	1: 53,314,327 (GRCm39)	Y73H	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prl6a1	T	C	13: 27,503,081 (GRCm39)	Y231H	probably benign	Het
Ranbp3l	T	A	15: 9,029,641 (GRCm39)	V41D	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Ripk4	A	T	16: 97,545,342 (GRCm39)	L372*	probably null	Het
Rnf126	A	G	10: 79,594,971 (GRCm39)		probably benign	Het
S100pbp	A	G	4: 129,075,893 (GRCm39)	V144A	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Sap25	G	A	5: 137,641,034 (GRCm39)	G277R	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Set	A	G	2: 29,959,048 (GRCm39)	K70E	possibly damaging	Het
Setd3	A	G	12: 108,073,600 (GRCm39)	I559T	probably benign	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Skint3	A	T	4: 112,112,980 (GRCm39)	K197*	probably null	Het
Skint5	T	A	4: 113,727,897 (GRCm39)	I402F	possibly damaging	Het
Slc18a1	G	A	8: 69,496,613 (GRCm39)	T350M	probably damaging	Het
Slc19a3	A	T	1: 82,992,512 (GRCm39)	I403K	probably damaging	Het
Slc1a7	C	T	4: 107,861,636 (GRCm39)	T225I	probably benign	Het
Slc38a4	T	C	15: 96,906,606 (GRCm39)	I336V	probably benign	Het
Smarcc1	A	G	9: 109,947,411 (GRCm39)		probably benign	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Strc	A	T	2: 121,209,368 (GRCm39)	W290R	probably damaging	Het
Svep1	T	C	4: 58,084,554 (GRCm39)	D1858G	possibly damaging	Het
Sympk	G	A	7: 18,777,454 (GRCm39)	R568Q	probably damaging	Het
Tex44	A	C	1: 86,354,728 (GRCm39)	K212N	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thrap3	C	T	4: 126,073,967 (GRCm39)	V260I	probably damaging	Het
Thsd7a	A	T	6: 12,318,105 (GRCm39)		probably benign	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Vmn2r113	T	A	17: 23,177,223 (GRCm39)	L669*	probably null	Het
Vps13b	T	A	15: 35,841,593 (GRCm39)	V2541E	probably damaging	Het
Wnt3	T	C	11: 103,703,111 (GRCm39)	I198T	probably damaging	Het
Zfp316	T	C	5: 143,249,161 (GRCm39)	E158G	unknown	Het
Zfp362	T	G	4: 128,680,780 (GRCm39)	I182L	possibly damaging	Het
Zfp804a	A	G	2: 82,087,710 (GRCm39)	D513G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	probably benign	Het
Zfp97	T	A	17: 17,365,018 (GRCm39)	N172K	possibly damaging	Het
Zmym6	A	T	4: 126,982,208 (GRCm39)	K82*	probably null	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
R2057: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'- TGTATCACTACCAGCACCATG -3'
(R):5'- GACAGAGTCAGAACTGTTGCTG -3'

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

Posted On

2014-09-17