Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Cd40'

256967

Institutional Source

Beutler Lab

Gene Symbol

Cd40

Ensembl Gene

ENSMUSG00000017652

Gene Name

CD40 antigen

Synonyms

Tnfrsf5, p50, Bp50, Cd40

MMRRC Submission

040515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2938 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164897535-164913574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 164911622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 191 (V191L)

Ref Sequence

ENSEMBL: ENSMUSP00000080059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017799] [ENSMUST00000073707] [ENSMUST00000081310] [ENSMUST00000184221]

AlphaFold

P27512

Predicted Effect

silent
Transcript: ENSMUST00000017799

SMART Domains

Protein: ENSMUSP00000017799
Gene: ENSMUSG00000017652

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	26	59	9.45e-6	SMART
TNFR	62	103	2.38e-11	SMART
TNFR	105	143	4.55e-8	SMART
TNFR	146	186	2.42e-3	SMART
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073707

SMART Domains

Protein: ENSMUSP00000073386
Gene: ENSMUSG00000017652

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	26	59	9.45e-6	SMART
TNFR	62	103	2.38e-11	SMART
TNFR	105	143	4.55e-8	SMART
TNFR	146	186	2.42e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081310
AA Change: V191L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080059
Gene: ENSMUSG00000017652
AA Change: V191L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	26	59	9.45e-6	SMART
TNFR	62	103	2.38e-11	SMART
TNFR	105	143	4.55e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153105

Predicted Effect

silent
Transcript: ENSMUST00000184221

SMART Domains

Protein: ENSMUSP00000139193
Gene: ENSMUSG00000017652

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TNFR	26	59	9.45e-6	SMART
TNFR	62	103	2.38e-11	SMART
TNFR	105	143	4.55e-8	SMART
TNFR	146	186	2.42e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous inactivation of this gene may cause impaired immunoglobulin class switching and germinal center formation, reduced susceptibility to type II hypersensitivity reaction, impaired priming of T cells and control of M. tuberculosis infection, and altered response to transplant. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,736,653 (GRCm39)	I1775K	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Astn2	A	T	4: 65,910,550 (GRCm39)	H427Q	possibly damaging	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,805,980 (GRCm39)	L296*	probably null	Het
Cdc6	A	G	11: 98,801,586 (GRCm39)	I217V	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Cstl1	T	A	2: 148,592,977 (GRCm39)	I44N	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,222,900 (GRCm39)	T1000S	probably benign	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,776,167 (GRCm39)	T163A	probably benign	Het
Hmgcr	G	A	13: 96,799,576 (GRCm39)	L173F	probably damaging	Het
Htr2b	T	A	1: 86,030,177 (GRCm39)	I173F	possibly damaging	Het
Ifna11	T	C	4: 88,738,530 (GRCm39)	L112P	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Macf1	T	C	4: 123,326,695 (GRCm39)	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,978,330 (GRCm39)	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,795,803 (GRCm39)	S1315T	probably damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Opcml	A	G	9: 27,702,682 (GRCm39)	M1V	probably null	Het
Or4d5	A	T	9: 40,012,039 (GRCm39)	I249K	probably benign	Het
Or5m3	T	C	2: 85,838,357 (GRCm39)	M79T	probably damaging	Het
Or6c66b	T	A	10: 129,376,484 (GRCm39)	F26Y	probably damaging	Het
Parm1	T	C	5: 91,742,328 (GRCm39)	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Pfkfb2	G	A	1: 130,633,147 (GRCm39)	T202I	possibly damaging	Het
Postn	T	A	3: 54,277,731 (GRCm39)	F242Y	probably damaging	Het
Prss12	A	G	3: 123,280,625 (GRCm39)	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Saraf	A	G	8: 34,635,735 (GRCm39)	N346D	probably benign	Het
Sec31b	T	C	19: 44,524,618 (GRCm39)	D93G	probably damaging	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,282,789 (GRCm39)	D449G	probably benign	Het
Slc9a3	T	C	13: 74,269,788 (GRCm39)	I52T	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,649,561 (GRCm39)	D670G	probably damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,703,630 (GRCm39)	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Zfp808	G	A	13: 62,319,032 (GRCm39)	V67M	probably benign	Het

Other mutations in Cd40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
bluebonnet	UTSW	2	164,904,221 (GRCm39)	missense	probably benign	0.23
noelle	UTSW	2	164,905,483 (GRCm39)	critical splice donor site	probably null
R0553:Cd40	UTSW	2	164,912,661 (GRCm39)	missense	probably benign	0.01
R1115:Cd40	UTSW	2	164,912,681 (GRCm39)	missense	possibly damaging	0.59
R1134:Cd40	UTSW	2	164,912,738 (GRCm39)	missense	probably benign	0.44
R2036:Cd40	UTSW	2	164,904,221 (GRCm39)	missense	probably benign	0.23
R3034:Cd40	UTSW	2	164,904,235 (GRCm39)	missense	probably benign	0.02
R4690:Cd40	UTSW	2	164,911,615 (GRCm39)	missense	possibly damaging	0.68
R5222:Cd40	UTSW	2	164,908,464 (GRCm39)	missense	probably benign	0.41
R5310:Cd40	UTSW	2	164,905,483 (GRCm39)	critical splice donor site	probably null
R7318:Cd40	UTSW	2	164,904,255 (GRCm39)	missense	possibly damaging	0.51
R7833:Cd40	UTSW	2	164,908,431 (GRCm39)	missense	probably benign	0.01
R7905:Cd40	UTSW	2	164,904,245 (GRCm39)	missense	probably damaging	1.00
R8069:Cd40	UTSW	2	164,898,695 (GRCm39)	missense	unknown
R8371:Cd40	UTSW	2	164,908,458 (GRCm39)	missense	probably damaging	1.00
R9177:Cd40	UTSW	2	164,905,465 (GRCm39)	missense	probably damaging	1.00
R9224:Cd40	UTSW	2	164,898,716 (GRCm39)	missense	unknown
R9311:Cd40	UTSW	2	164,912,667 (GRCm39)	missense	possibly damaging	0.87
R9419:Cd40	UTSW	2	164,904,162 (GRCm39)	intron	probably benign
R9625:Cd40	UTSW	2	164,905,061 (GRCm39)	missense	probably benign
Z1088:Cd40	UTSW	2	164,904,960 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

Posted On

2014-12-31