Mutagenetix > Incidental Mutation

Incidental Mutation 'R2358:Cd27'

247009

Institutional Source

Beutler Lab

Gene Symbol

Cd27

Ensembl Gene

ENSMUSG00000030336

Gene Name

CD27 antigen

Synonyms

Tnfrsf7, S152, Cd27, Tp55

MMRRC Submission

040340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125209585-125213973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125210281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 189 (Y189H)

Ref Sequence

ENSEMBL: ENSMUSP00000107900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032486] [ENSMUST00000043422] [ENSMUST00000063588] [ENSMUST00000112281] [ENSMUST00000112282]

AlphaFold

P41272

Predicted Effect

probably damaging
Transcript: ENSMUST00000032486
AA Change: Y249H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032486
Gene: ENSMUSG00000030336
AA Change: Y249H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TNFR	27	62	1.11e-2	SMART
TNFR	65	104	1.23e-4	SMART
low complexity region	131	147	N/A	INTRINSIC
transmembrane domain	183	202	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043422

SMART Domains

Protein: ENSMUSP00000047105
Gene: ENSMUSG00000038213

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	202	306	1.11e-5	SMART
IGc1	321	397	3.97e-7	SMART
transmembrane domain	412	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063588

SMART Domains

Protein: ENSMUSP00000063466
Gene: ENSMUSG00000030337

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Pfam:Synaptobrevin	30	118	5.4e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112281
AA Change: Y189H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107900
Gene: ENSMUSG00000030336
AA Change: Y189H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TNFR	27	62	1.11e-2	SMART
Blast:TNFR	65	100	4e-10	BLAST
transmembrane domain	120	142	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112282
AA Change: Y145H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107901
Gene: ENSMUSG00000030336
AA Change: Y145H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:TNFR	27	45	1e-6	BLAST
transmembrane domain	76	98	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159547

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (55/56)

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 a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have a normal phenotype. However, T-cell development immune responses are abnormal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,215,368 (GRCm39)		probably null	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Ankzf1	C	T	1: 75,171,895 (GRCm39)	H209Y	probably damaging	Het
Ate1	A	T	7: 130,117,895 (GRCm39)	M30K	probably damaging	Het
Cela1	A	G	15: 100,579,109 (GRCm39)	I183T	probably benign	Het
Copg2	A	T	6: 30,803,168 (GRCm39)	L259*	probably null	Het
Dennd2b	A	T	7: 109,155,653 (GRCm39)	S366T	probably benign	Het
Efcab7	T	A	4: 99,719,823 (GRCm39)		probably benign	Het
Fcrl5	A	G	3: 87,353,726 (GRCm39)	E357G	probably damaging	Het
Fzr1	C	T	10: 81,203,474 (GRCm39)		probably null	Het
Il12rb2	C	T	6: 67,275,179 (GRCm39)	A649T	probably damaging	Het
Itfg1	C	A	8: 86,464,758 (GRCm39)	V438F	probably damaging	Het
Jaml	A	C	9: 45,012,361 (GRCm39)	I283L	possibly damaging	Het
Kif28	A	T	1: 179,537,024 (GRCm39)	H486Q	probably damaging	Het
Lrch4	A	G	5: 137,636,810 (GRCm39)		probably benign	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,332,299 (GRCm39)	N1665K	probably benign	Het
Mrpl32	A	T	13: 14,785,165 (GRCm39)	V157E	probably damaging	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nlrp4a	A	G	7: 26,163,623 (GRCm39)	D930G	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or7a35	T	C	10: 78,854,022 (GRCm39)	F289L	probably damaging	Het
Ovch2	A	T	7: 107,394,122 (GRCm39)	H110Q	probably damaging	Het
Pcnx3	G	A	19: 5,733,367 (GRCm39)	Q155*	probably null	Het
Pcnx3	C	G	19: 5,733,368 (GRCm39)	L1F	probably null	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Ptpn12	G	A	5: 21,203,690 (GRCm39)	P363S	probably damaging	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,825,785 (GRCm39)		probably benign	Het
Rpl13-ps3	A	G	14: 59,131,265 (GRCm39)		noncoding transcript	Het
Sap18b	G	A	8: 96,552,191 (GRCm39)	R67H	probably benign	Het
Sdhb	T	C	4: 140,700,311 (GRCm39)	V137A	probably damaging	Het
Shmt2	T	C	10: 127,353,897 (GRCm39)	T459A	probably benign	Het
Siglecg	A	G	7: 43,058,846 (GRCm39)	S200G	possibly damaging	Het
Slc6a15	T	G	10: 103,252,646 (GRCm39)	I603S	probably benign	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Spata31d1a	G	A	13: 59,851,702 (GRCm39)	S142L	probably benign	Het
Spopfm2	G	A	3: 94,082,854 (GRCm39)	A319V	possibly damaging	Het
Spopfm2	C	A	3: 94,082,855 (GRCm39)	A319S	possibly damaging	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Strip1	A	G	3: 107,523,135 (GRCm39)	V633A	probably benign	Het
Sun2	A	G	15: 79,612,114 (GRCm39)	S522P	possibly damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Terb2	T	A	2: 122,028,913 (GRCm39)	C157S	probably benign	Het
Themis	T	A	10: 28,739,376 (GRCm39)	N615K	possibly damaging	Het
Tlnrd1	A	T	7: 83,531,488 (GRCm39)	D314E	probably benign	Het
Vmn1r205	T	A	13: 22,776,566 (GRCm39)	T179S	probably benign	Het
Vsig10l	G	A	7: 43,118,185 (GRCm39)	R689H	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Zfp423	G	T	8: 88,507,179 (GRCm39)	A1034D	possibly damaging	Het
Zfy2	T	C	Y: 2,107,272 (GRCm39)	E454G	possibly damaging	Het
Zyg11a	G	T	4: 108,053,343 (GRCm39)	Q440K	possibly damaging	Het

Other mutations in Cd27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02222:Cd27	APN	6	125,211,495 (GRCm39)	missense	probably damaging	0.98
R3704:Cd27	UTSW	6	125,210,361 (GRCm39)	missense	probably damaging	1.00
R3711:Cd27	UTSW	6	125,210,281 (GRCm39)	missense	probably damaging	1.00
R4305:Cd27	UTSW	6	125,211,633 (GRCm39)	missense	probably benign	0.02
R4872:Cd27	UTSW	6	125,211,281 (GRCm39)	critical splice acceptor site	probably null
R5369:Cd27	UTSW	6	125,211,327 (GRCm39)	intron	probably benign
R5762:Cd27	UTSW	6	125,213,561 (GRCm39)	missense	probably damaging	1.00
R6577:Cd27	UTSW	6	125,213,756 (GRCm39)	missense	probably benign	0.00
R6810:Cd27	UTSW	6	125,210,627 (GRCm39)	missense	probably damaging	1.00
R8087:Cd27	UTSW	6	125,210,325 (GRCm39)	missense	possibly damaging	0.95
R8162:Cd27	UTSW	6	125,210,188 (GRCm39)	splice site	probably null
R8924:Cd27	UTSW	6	125,213,432 (GRCm39)	intron	probably benign
R9334:Cd27	UTSW	6	125,213,718 (GRCm39)	critical splice donor site	probably null
R9785:Cd27	UTSW	6	125,213,945 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGCTAGAGCCTGAGTCTCC -3'
(R):5'- ACTCTGGCTCCTCAAGTGTC -3'

Sequencing Primer
(F):5'- TAGAGCCTGAGTCTCCCCAGC -3'
(R):5'- AAGTGTCCTTCCCCCAGAC -3'

Posted On

2014-10-30