Mutagenetix > Incidental Mutation

Incidental Mutation 'R3711:Cd27'

259604

Institutional Source

Beutler Lab

Gene Symbol

Cd27

Ensembl Gene

ENSMUSG00000030336

Gene Name

CD27 antigen

Synonyms

Tnfrsf7, S152, Cd27, Tp55

MMRRC Submission

040704-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3711 (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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,837,081 (GRCm39)	V1138A	possibly damaging	Het
Adgrv1	A	T	13: 81,567,594 (GRCm39)	I5193K	probably benign	Het
Adnp	A	T	2: 168,026,743 (GRCm39)	I184N	probably damaging	Het
Ahnak	T	G	19: 8,985,262 (GRCm39)	V2182G	probably benign	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Aspm	G	A	1: 139,385,838 (GRCm39)	G494D	probably benign	Het
Atic	T	A	1: 71,617,738 (GRCm39)	S563T	probably benign	Het
Bahcc1	A	T	11: 120,165,923 (GRCm39)	I1060F	probably benign	Het
Dnm2	C	A	9: 21,417,669 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,721,395 (GRCm39)	T345A	probably benign	Het
Fbf1	T	C	11: 116,052,299 (GRCm39)	H53R	possibly damaging	Het
Fbf1	A	G	11: 116,054,179 (GRCm39)	I29T	probably damaging	Het
Gm14399	G	A	2: 174,973,303 (GRCm39)	R151*	probably null	Het
Gsdma	T	A	11: 98,557,045 (GRCm39)	Y53*	probably null	Het
Hid1	A	T	11: 115,249,601 (GRCm39)	L208Q	probably damaging	Het
Kif4-ps	A	G	12: 101,112,312 (GRCm39)	E147G	probably damaging	Het
Kif7	A	T	7: 79,360,640 (GRCm39)	V245D	probably benign	Het
Klhdc4	A	G	8: 122,524,794 (GRCm39)	V378A	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
Mast3	C	A	8: 71,232,251 (GRCm39)	R1242L	probably benign	Het
Mon1b	T	C	8: 114,365,779 (GRCm39)	M369T	possibly damaging	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Narf	G	T	11: 121,137,764 (GRCm39)	E224*	probably null	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nmnat3	T	A	9: 98,292,276 (GRCm39)	Y108N	probably damaging	Het
Npr2	A	T	4: 43,643,378 (GRCm39)	Y534F	probably benign	Het
Obox5	A	T	7: 15,492,713 (GRCm39)	M223L	probably benign	Het
Optc	A	T	1: 133,832,819 (GRCm39)	S94T	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or1l4	A	G	2: 37,091,285 (GRCm39)	T11A	probably benign	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Or8w1	T	C	2: 87,466,025 (GRCm39)	D22G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Stab2	A	G	10: 86,702,572 (GRCm39)	L423P	probably damaging	Het
Sun5	A	G	2: 153,709,468 (GRCm39)	V74A	probably benign	Het
Tanc2	A	G	11: 105,689,516 (GRCm39)	Y226C	probably damaging	Het
Tlr6	T	C	5: 65,111,152 (GRCm39)	D585G	possibly damaging	Het
Tmt1a3	A	T	15: 100,232,961 (GRCm39)	M51L	probably benign	Het
Tnrc6c	A	G	11: 117,613,950 (GRCm39)	T863A	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Ythdc2	C	T	18: 44,966,240 (GRCm39)	L159F	probably damaging	Het
Zc3h6	A	G	2: 128,859,251 (GRCm39)	N1094S	probably benign	Het
Zdbf2	T	C	1: 63,347,830 (GRCm39)	S2070P	possibly damaging	Het
Zfp648	T	A	1: 154,080,304 (GRCm39)	S154R	probably benign	Het
Zfp748	A	G	13: 67,688,915 (GRCm39)	C782R	probably damaging	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably 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
R2358:Cd27	UTSW	6	125,210,281 (GRCm39)	missense	probably damaging	1.00
R3704:Cd27	UTSW	6	125,210,361 (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'- ACCTACTCTGGCTCCTCAAG -3'

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

Posted On

2015-01-23