Mutagenetix > Incidental Mutation

Incidental Mutation 'R7735:Cxadr'

596218

Institutional Source

Beutler Lab

Gene Symbol

Cxadr

Ensembl Gene

ENSMUSG00000022865

Gene Name

coxsackie virus and adenovirus receptor

Synonyms

MCAR, 2610206D03Rik, CAR, MCVADR

MMRRC Submission

045791-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78098377-78156662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78125949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 106 (N106K)

Ref Sequence

ENSEMBL: ENSMUSP00000023572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023572] [ENSMUST00000114229] [ENSMUST00000231353] [ENSMUST00000231356] [ENSMUST00000232148]

AlphaFold

P97792

PDB Structure

Crystal structure of the extracellular domains of coxsackie & adenovirus receptor from mouse (mCAR) [X-RAY DIFFRACTION]
Crystal structure of the complex of JAML and Coxsackie and Adenovirus receptor, CAR [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023572
AA Change: N106K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023572
Gene: ENSMUSG00000022865
AA Change: N106K

Domain	Start	End	E-Value	Type
IG	26	138	1.99e-7	SMART
IGc2	153	219	7.7e-5	SMART
low complexity region	262	272	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114229
AA Change: N106K

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

SMART Domains

Protein: ENSMUSP00000109867
Gene: ENSMUSG00000022865
AA Change: N106K

Domain	Start	End	E-Value	Type
IG	26	138	1.99e-7	SMART
IGc2	153	219	7.7e-5	SMART
low complexity region	262	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231353

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231356
AA Change: N106K

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232148
AA Change: N106K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: This gene encodes a protein that is part of the Cortical Thymocyte marker in Xenopus (CTX) subfamily within the immunoglobulin superfamily. Members of this subfamily, predominantly expressed on the surface of endothelial and epithelial cells, help establish cell polarity and provide a barrier function, regulating migration of immune cells. This protein, first identified as the receptor for adenovirus subgroup C and coxsakieviruses group B, is developmentally regulated and plays an important role in cardiac development. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality with focal cardiomyocyte apoptosis and extensive thoracic hemorrhaging. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,655,629 (GRCm39)	T617A	probably benign	Het
Agl	A	T	3: 116,578,795 (GRCm39)	I446N	probably benign	Het
Aox1	C	T	1: 58,107,451 (GRCm39)	P575L	probably benign	Het
Ap2m1	A	T	16: 20,358,269 (GRCm39)	I96F	probably benign	Het
Arhgap15	A	G	2: 44,006,642 (GRCm39)	D253G	probably damaging	Het
Arsa	A	T	15: 89,359,152 (GRCm39)	C171*	probably null	Het
Arsb	G	T	13: 93,908,491 (GRCm39)	R69L	probably benign	Het
Asb13	G	A	13: 3,684,180 (GRCm39)		probably null	Het
Canx	G	T	11: 50,191,866 (GRCm39)	D348E	probably damaging	Het
Cebpz	C	T	17: 79,233,342 (GRCm39)		probably null	Het
Ces2h	A	T	8: 105,741,127 (GRCm39)	I40L	probably benign	Het
Cfhr4	A	G	1: 139,660,039 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,350,723 (GRCm39)		probably null	Het
Ddo	T	C	10: 40,507,770 (GRCm39)	C56R	probably benign	Het
Dnah6	C	T	6: 73,046,412 (GRCm39)	G3192D	probably damaging	Het
Efcab3	T	A	11: 104,962,465 (GRCm39)	V49E	probably benign	Het
Epha10	T	C	4: 124,807,472 (GRCm39)	Y578H		Het
Fbxw16	T	C	9: 109,270,135 (GRCm39)	D202G	probably damaging	Het
Gzf1	T	C	2: 148,530,083 (GRCm39)	V538A	possibly damaging	Het
Igha	T	A	12: 113,220,019 (GRCm39)		probably benign	Het
Iqce	G	T	5: 140,663,839 (GRCm39)	Q457K	probably benign	Het
Kbtbd3	A	G	9: 4,330,846 (GRCm39)	K407E	possibly damaging	Het
Lipt1	A	G	1: 37,914,703 (GRCm39)	E253G	probably damaging	Het
Mrnip	G	A	11: 50,087,800 (GRCm39)	W107*	probably null	Het
Mroh4	T	C	15: 74,497,357 (GRCm39)	T224A	probably damaging	Het
Ncoa2	A	T	1: 13,218,661 (GRCm39)	S1389R	probably benign	Het
Npffr2	A	G	5: 89,731,173 (GRCm39)	I368V	probably benign	Het
Nrdc	C	T	4: 108,895,182 (GRCm39)	L469F	probably damaging	Het
Nup210l	A	T	3: 90,092,883 (GRCm39)	Q1279L	probably damaging	Het
Or4k47	T	A	2: 111,451,819 (GRCm39)	N200I	probably damaging	Het
Or7e170	A	G	9: 19,795,410 (GRCm39)	Y64H	probably damaging	Het
Pcdha4	T	G	18: 37,085,961 (GRCm39)	I48S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,101 (GRCm39)	Y211C	possibly damaging	Het
Prrt4	A	T	6: 29,170,035 (GRCm39)	S806T	possibly damaging	Het
Ptpn20	T	A	14: 33,352,902 (GRCm39)	Y214N	probably damaging	Het
Ptprt	A	T	2: 161,417,661 (GRCm39)	N938K	probably damaging	Het
Scn2a	G	T	2: 65,594,013 (GRCm39)	V1621L	probably benign	Het
Senp3	A	G	11: 69,569,087 (GRCm39)	I358T	probably damaging	Het
Sf3b1	A	T	1: 55,042,508 (GRCm39)	S461T	probably benign	Het
Slc22a2	C	T	17: 12,828,917 (GRCm39)	T341I	probably damaging	Het
Slc38a7	A	T	8: 96,568,295 (GRCm39)	D363E	probably benign	Het
Slc6a5	T	C	7: 49,598,090 (GRCm39)		probably null	Het
Smo	T	A	6: 29,759,851 (GRCm39)	V650E	probably damaging	Het
Spata17	G	A	1: 186,872,577 (GRCm39)	T31I	unknown	Het
Sstr2	T	A	11: 113,515,423 (GRCm39)	I114N	possibly damaging	Het
Styxl1	T	C	5: 135,788,023 (GRCm39)	Y146C	probably damaging	Het
Synpo2l	T	C	14: 20,711,243 (GRCm39)	Q688R	possibly damaging	Het
Tmem245	C	T	4: 56,925,155 (GRCm39)	R322H	probably benign	Het
Tnxb	A	G	17: 34,890,398 (GRCm39)	E247G	unknown	Het
Ttc28	A	T	5: 111,414,544 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,718,416 (GRCm39)	I7255N	unknown	Het
Ttn	C	A	2: 76,652,768 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,165,791 (GRCm39)	R204C	probably damaging	Het
Utrn	A	G	10: 12,619,787 (GRCm39)		probably null	Het
Vps53	A	T	11: 75,937,962 (GRCm39)	F753I	probably damaging	Het
Ypel1	G	T	16: 16,918,124 (GRCm39)	S97R	probably benign	Het
Zdbf2	A	G	1: 63,343,264 (GRCm39)	T548A	possibly damaging	Het
Zfp747	G	A	7: 126,973,672 (GRCm39)	T166M	probably damaging	Het

Other mutations in Cxadr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Cxadr	APN	16	78,131,115 (GRCm39)	nonsense	probably null
R0309:Cxadr	UTSW	16	78,131,836 (GRCm39)	missense	probably benign	0.00
R1129:Cxadr	UTSW	16	78,133,321 (GRCm39)	missense	probably benign	0.27
R1142:Cxadr	UTSW	16	78,131,727 (GRCm39)	missense	probably benign	0.04
R1713:Cxadr	UTSW	16	78,131,133 (GRCm39)	missense	probably damaging	1.00
R6432:Cxadr	UTSW	16	78,122,147 (GRCm39)	missense	probably damaging	1.00
R6637:Cxadr	UTSW	16	78,130,391 (GRCm39)	missense	possibly damaging	0.47
R7597:Cxadr	UTSW	16	78,125,996 (GRCm39)	missense	probably damaging	1.00
R7809:Cxadr	UTSW	16	78,130,407 (GRCm39)	critical splice donor site	probably null
R7952:Cxadr	UTSW	16	78,131,123 (GRCm39)	missense	possibly damaging	0.89
R8073:Cxadr	UTSW	16	78,130,301 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGTACCGTTCTTTGGCTAAG -3'
(R):5'- GAAACCAGCCTTGTCTTCCATG -3'

Sequencing Primer
(F):5'- TCTTTGGCTAAGAACAAGGGATC -3'
(R):5'- GACTGTACGCTCTAGCCAC -3'

Posted On

2019-11-26