Mutagenetix > Incidental Mutation

Incidental Mutation 'R9342:Cd247'

707528

Institutional Source

Beutler Lab

Gene Symbol

Cd247

Ensembl Gene

ENSMUSG00000005763

Gene Name

CD247 antigen

Synonyms

Cd3z, Tcrz, T3z, TCRk, CD3-eta, CD3 zeta, CD3zeta, CD3-zeta/eta, Cd3h, CD3-zeta, 4930549J05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9342 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165616250-165704846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165682759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 28 (D28V)

Ref Sequence

ENSEMBL: ENSMUSP00000027849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005907] [ENSMUST00000027849] [ENSMUST00000086002] [ENSMUST00000161559] [ENSMUST00000161971] [ENSMUST00000178336] [ENSMUST00000187313]

AlphaFold

P24161

Predicted Effect

probably damaging
Transcript: ENSMUST00000005907
AA Change: D28V

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

SMART Domains

Protein: ENSMUSP00000005907
Gene: ENSMUSG00000005763
AA Change: D28V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.7e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART
ITAM	139	159	6.45e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000027849
AA Change: D28V

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

SMART Domains

Protein: ENSMUSP00000027849
Gene: ENSMUSG00000005763
AA Change: D28V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	58	4.3e-21	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART
low complexity region	195	204	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000086002
AA Change: D28V

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

SMART Domains

Protein: ENSMUSP00000083165
Gene: ENSMUSG00000005763
AA Change: D28V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	2.5e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART
low complexity region	195	204	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161559
AA Change: D28V

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

SMART Domains

Protein: ENSMUSP00000124299
Gene: ENSMUSG00000005763
AA Change: D28V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.7e-24	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	107	128	1.27e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161971
AA Change: D28V

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

SMART Domains

Protein: ENSMUSP00000124297
Gene: ENSMUSG00000005763
AA Change: D28V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.5e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178336
AA Change: D28V

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

SMART Domains

Protein: ENSMUSP00000136456
Gene: ENSMUSG00000005763
AA Change: D28V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	1.7e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000187313
AA Change: D28V

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

SMART Domains

Protein: ENSMUSP00000140926
Gene: ENSMUSG00000005763
AA Change: D28V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TCR_zetazeta	28	60	2.5e-23	PFAM
ITAM	69	89	6.91e-5	SMART
ITAM	108	129	1.27e-3	SMART
low complexity region	195	204	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

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 T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit greatly reduced numbers of CD4+CD8+ cells, and near absence of CD4+CD8-, CD4-CD8+ cells, and TCR expression in the thymus, but the presence of single positive T cells in lymph nodes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	T	C	5: 130,407,876 (GRCm39)	I112V	unknown	Het
Aars2	A	G	17: 45,818,002 (GRCm39)	N75D	possibly damaging	Het
Abcf2	G	A	5: 24,778,475 (GRCm39)	R228C	probably benign	Het
Agfg2	A	G	5: 137,652,114 (GRCm39)	L415P	probably benign	Het
Alpi	A	G	1: 87,026,386 (GRCm39)	L535P	unknown	Het
Anxa9	T	G	3: 95,210,359 (GRCm39)	T69P	probably damaging	Het
Arrb2	T	A	11: 70,327,463 (GRCm39)	D79E	probably benign	Het
Bcat1	A	G	6: 144,994,332 (GRCm39)	V55A	probably benign	Het
Cacna1c	A	G	6: 119,034,335 (GRCm39)	L64P		Het
Celsr2	T	A	3: 108,320,442 (GRCm39)	N790I	probably damaging	Het
Clrn1	C	T	3: 58,792,251 (GRCm39)	V71I	probably benign	Het
Cmtr2	T	C	8: 110,949,078 (GRCm39)	Y463H	possibly damaging	Het
Col6a6	T	C	9: 105,663,172 (GRCm39)	T122A	probably benign	Het
Cubn	T	A	2: 13,463,767 (GRCm39)	D646V	probably damaging	Het
Dab2ip	T	A	2: 35,613,105 (GRCm39)	L1062Q	possibly damaging	Het
Dnajb4	T	C	3: 151,892,272 (GRCm39)	N187S	probably benign	Het
Dock10	A	T	1: 80,570,360 (GRCm39)	F365L	probably benign	Het
Erich6	G	A	3: 58,534,101 (GRCm39)	Q309*	probably null	Het
Ext1	T	C	15: 53,208,524 (GRCm39)	H79R	probably benign	Het
Fam187b	T	A	7: 30,677,185 (GRCm39)	C231*	probably null	Het
Fbh1	T	C	2: 11,754,414 (GRCm39)	I775V	probably benign	Het
Fbxo15	T	A	18: 84,983,609 (GRCm39)	M319K	unknown	Het
Fbxo9	A	T	9: 78,002,520 (GRCm39)	M187K	possibly damaging	Het
Fer1l4	T	C	2: 155,877,196 (GRCm39)	D1113G	probably benign	Het
Fsip2	A	T	2: 82,818,747 (GRCm39)	T4827S	possibly damaging	Het
Gm49398	A	T	13: 61,435,478 (GRCm39)	L7Q	probably damaging	Het
H2-M10.4	A	T	17: 36,771,285 (GRCm39)	W298R	probably damaging	Het
Hoxd10	A	G	2: 74,522,982 (GRCm39)	E220G	probably benign	Het
Hrh2	T	G	13: 54,368,222 (GRCm39)	L66R	probably damaging	Het
Igf1r	A	G	7: 67,844,746 (GRCm39)	T840A	probably benign	Het
Iqca1	A	G	1: 90,072,688 (GRCm39)	V64A	probably damaging	Het
Klc2	A	G	19: 5,158,659 (GRCm39)	S612P	probably benign	Het
Klf15	A	G	6: 90,443,851 (GRCm39)	E142G	probably damaging	Het
Krt40	T	A	11: 99,429,579 (GRCm39)	T332S	probably damaging	Het
Lrrc9	T	C	12: 72,506,767 (GRCm39)	F348S	probably damaging	Het
Lrrn4	T	C	2: 132,712,290 (GRCm39)	D511G	probably benign	Het
Lrtm2	T	C	6: 119,297,934 (GRCm39)	I36V	probably benign	Het
Lsm10	T	C	4: 125,991,860 (GRCm39)	L72P	probably damaging	Het
Mab21l3	T	A	3: 101,742,519 (GRCm39)	S14C	possibly damaging	Het
Map2k4	T	C	11: 65,581,569 (GRCm39)	K381R	probably benign	Het
Mcidas	A	G	13: 113,130,915 (GRCm39)	D80G	probably damaging	Het
Med23	A	G	10: 24,750,469 (GRCm39)	M99V	probably benign	Het
Mga	A	G	2: 119,778,656 (GRCm39)	D2067G	probably benign	Het
Ms4a19	T	A	19: 11,119,775 (GRCm39)	T52S	possibly damaging	Het
Msc	G	T	1: 14,825,707 (GRCm39)	P89Q	probably benign	Het
Nalf1	C	A	8: 9,821,006 (GRCm39)	A5S	probably damaging	Het
Or14c44	A	G	7: 86,062,430 (GRCm39)	I287V	probably benign	Het
Or2d3c	A	T	7: 106,526,564 (GRCm39)	I34N	possibly damaging	Het
Or5t7	A	T	2: 86,507,494 (GRCm39)	L61Q	probably damaging	Het
Plekhg6	T	C	6: 125,340,023 (GRCm39)	D779G	probably damaging	Het
Pnpla2	C	A	7: 141,035,331 (GRCm39)	Y44*	probably null	Het
Ppp1r17	T	A	6: 56,003,524 (GRCm39)	D112E	probably damaging	Het
Prdm2	A	G	4: 142,861,478 (GRCm39)	I604T	probably damaging	Het
Prkce	A	G	17: 86,781,877 (GRCm39)	Y182C	probably damaging	Het
Prokr2	G	A	2: 132,182,790 (GRCm39)	S189F	possibly damaging	Het
Qser1	A	T	2: 104,618,164 (GRCm39)	S793T	probably benign	Het
Reck	T	C	4: 43,943,301 (GRCm39)	F951S	probably benign	Het
Rev3l	T	C	10: 39,697,458 (GRCm39)	S652P	probably benign	Het
Rtl1	A	C	12: 109,558,884 (GRCm39)	L985R	probably damaging	Het
Sardh	T	C	2: 27,120,869 (GRCm39)	E385G	possibly damaging	Het
Sfmbt1	G	T	14: 30,519,599 (GRCm39)	W440L	possibly damaging	Het
Slc4a7	T	A	14: 14,772,541 (GRCm38)	C683*	probably null	Het
Slc51a	A	G	16: 32,298,517 (GRCm39)	L80P	possibly damaging	Het
Slco3a1	C	A	7: 74,154,037 (GRCm39)	L178F	probably damaging	Het
Spata6	T	A	4: 111,636,389 (GRCm39)	C227S	possibly damaging	Het
Tbc1d30	A	T	10: 121,103,366 (GRCm39)	Y555*	probably null	Het
Tcf7l2	A	G	19: 55,731,517 (GRCm39)	Q90R	probably benign	Het
Tff3	A	C	17: 31,346,423 (GRCm39)	S50A	probably benign	Het
Tnrc6c	T	C	11: 117,630,720 (GRCm39)	M1027T	probably benign	Het
Ttc12	A	G	9: 49,351,680 (GRCm39)	F606L	probably benign	Het
Uqcc3	G	A	19: 8,858,090 (GRCm39)	Q34*	probably null	Het
Veph1	T	A	3: 66,151,959 (GRCm39)	I157F	probably damaging	Het
Vmn2r14	G	A	5: 109,368,428 (GRCm39)	T188I	probably damaging	Het
Vmn2r67	A	G	7: 84,785,788 (GRCm39)	I739T	probably benign	Het
Vmn2r68	A	G	7: 84,882,993 (GRCm39)	F253S	probably benign	Het
Vmn2r74	T	C	7: 85,606,624 (GRCm39)	I241V	probably benign	Het
Vmn2r97	A	G	17: 19,149,368 (GRCm39)	E252G	probably benign	Het
Vps13b	T	C	15: 35,455,200 (GRCm39)	V703A	possibly damaging	Het
Vps25	T	A	11: 101,149,623 (GRCm39)	L149Q	probably damaging	Het
Xirp1	T	C	9: 119,845,950 (GRCm39)	T978A	probably benign	Het
Xpnpep1	T	A	19: 52,993,248 (GRCm39)	I360F	probably benign	Het
Zfpm1	C	T	8: 123,061,308 (GRCm39)	T291M	probably benign	Het
Zkscan8	A	G	13: 21,710,702 (GRCm39)	V136A	probably benign	Het
Zscan18	A	G	7: 12,505,612 (GRCm39)	Y592H	probably damaging	Het

Other mutations in Cd247

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02869:Cd247	APN	1	165,684,986 (GRCm39)	missense	probably damaging	1.00
allia	UTSW	1	165,682,783 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Cd247	UTSW	1	165,688,605 (GRCm39)	missense	probably damaging	0.99
R1114:Cd247	UTSW	1	165,616,407 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GGGTTTCTTCAGACTCAGTGAG -3'
(R):5'- ACGCTTGGTTGTATCCTGCC -3'

Sequencing Primer
(F):5'- CAGTGAGAGAGGTTGTAGGTTG -3'
(R):5'- TGCCTTGCCCATGGACAC -3'

Posted On

2022-04-18