Mutagenetix > Incidental Mutation

Incidental Mutation 'R1033:Card14'

95305

Institutional Source

Beutler Lab

Gene Symbol

Card14

Ensembl Gene

ENSMUSG00000013483

Gene Name

caspase recruitment domain family, member 14

Synonyms

Bimp2, CARMA2

MMRRC Submission

039132-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1033 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

119198594-119236201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119229196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 702 (V702D)

Ref Sequence

ENSEMBL: ENSMUSP00000101857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053245] [ENSMUST00000106250]

AlphaFold

Q99KF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000053245
AA Change: V702D

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

SMART Domains

Protein: ENSMUSP00000053665
Gene: ENSMUSG00000013483
AA Change: V702D

Domain	Start	End	E-Value	Type
Pfam:CARD	20	106	4.1e-25	PFAM
coiled coil region	126	173	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC
low complexity region	262	275	N/A	INTRINSIC
coiled coil region	280	377	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	473	483	N/A	INTRINSIC
low complexity region	541	551	N/A	INTRINSIC
PDZ	578	657	5.51e-3	SMART
Blast:SH3	676	735	4e-25	BLAST
low complexity region	736	746	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
Blast:GuKc	826	989	4e-63	BLAST
SCOP:d1kjwa2	855	994	2e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106250
AA Change: V702D

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

SMART Domains

Protein: ENSMUSP00000101857
Gene: ENSMUSG00000013483
AA Change: V702D

Domain	Start	End	E-Value	Type
Pfam:CARD	20	106	2.8e-25	PFAM
coiled coil region	126	173	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC
low complexity region	262	275	N/A	INTRINSIC
coiled coil region	280	377	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	473	483	N/A	INTRINSIC
low complexity region	541	551	N/A	INTRINSIC
PDZ	578	657	5.51e-3	SMART
Blast:SH3	676	735	4e-25	BLAST
low complexity region	736	746	N/A	INTRINSIC
low complexity region	816	825	N/A	INTRINSIC
Blast:GuKc	826	989	4e-63	BLAST
SCOP:d1kjwa2	855	994	2e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151052

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Akap6	A	C	12: 53,116,005 (GRCm39)	D1036A	probably damaging	Het
Alg6	T	C	4: 99,650,270 (GRCm39)	S497P	probably benign	Het
Arhgap10	T	A	8: 77,983,976 (GRCm39)	I700L	possibly damaging	Het
Atp11a	A	G	8: 12,878,555 (GRCm39)	Y377C	probably damaging	Het
Atp2b2	A	T	6: 113,770,849 (GRCm39)		probably null	Het
Ccdc17	C	T	4: 116,454,077 (GRCm39)	R32*	probably null	Het
Cdh20	A	T	1: 110,012,783 (GRCm39)	D372V	probably damaging	Het
Cfap54	A	T	10: 92,675,311 (GRCm39)	I2870N	probably benign	Het
Cped1	G	T	6: 22,016,950 (GRCm39)	V100F	probably damaging	Het
Dapk1	T	C	13: 60,869,679 (GRCm39)		probably null	Het
Exoc4	G	A	6: 33,242,922 (GRCm39)	G45D	probably damaging	Het
Fam110b	A	T	4: 5,799,440 (GRCm39)	N286I	probably benign	Het
Fbxo10	A	T	4: 45,062,236 (GRCm39)	C97S	probably damaging	Het
Frem3	A	T	8: 81,421,786 (GRCm39)	H2062L	probably benign	Het
Frk	T	C	10: 34,484,454 (GRCm39)	C476R	probably damaging	Het
Gm10542	A	G	18: 44,337,668 (GRCm39)	T49A	probably benign	Het
Gm128	A	G	3: 95,147,322 (GRCm39)	V324A	possibly damaging	Het
Gpr141	C	T	13: 19,935,880 (GRCm39)	M298I	probably benign	Het
Gxylt1	T	C	15: 93,142,958 (GRCm39)	E369G	probably benign	Het
Hpse2	A	G	19: 42,901,638 (GRCm39)	V368A	probably benign	Het
Ice1	A	T	13: 70,754,713 (GRCm39)	S458T	probably damaging	Het
Itgb7	T	A	15: 102,131,989 (GRCm39)	D198V	probably damaging	Het
Kcnk10	A	G	12: 98,484,929 (GRCm39)	V72A	possibly damaging	Het
Magel2	A	G	7: 62,029,798 (GRCm39)	M901V	unknown	Het
Mgam	A	T	6: 40,657,558 (GRCm39)	Y971F	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mug1	A	T	6: 121,857,510 (GRCm39)	D1078V	probably damaging	Het
Myom2	G	A	8: 15,158,934 (GRCm39)	R870H	probably benign	Het
Nek8	A	T	11: 78,062,111 (GRCm39)	L71Q	probably null	Het
Nox4	T	A	7: 87,023,621 (GRCm39)	D502E	probably damaging	Het
Nsmaf	G	A	4: 6,438,054 (GRCm39)	P73S	probably damaging	Het
Nup205	C	T	6: 35,204,377 (GRCm39)	A1421V	probably benign	Het
Nxpe4	T	C	9: 48,304,533 (GRCm39)	F207L	probably damaging	Het
Or1p1	A	C	11: 74,179,492 (GRCm39)	T7P	probably damaging	Het
Or3a1	A	C	11: 74,225,462 (GRCm39)	N198K	possibly damaging	Het
Or4k38	A	T	2: 111,166,147 (GRCm39)	I92N	probably damaging	Het
Or5al7	A	G	2: 85,993,194 (GRCm39)	I33T	possibly damaging	Het
Pals2	T	C	6: 50,160,716 (GRCm39)	Y326H	probably damaging	Het
Prkdc	T	C	16: 15,585,815 (GRCm39)	L2451P	probably damaging	Het
Rad51ap2	C	T	12: 11,506,252 (GRCm39)	S58F	probably damaging	Het
Rbbp8	A	G	18: 11,875,762 (GRCm39)	R892G	probably benign	Het
Rock1	A	G	18: 10,067,535 (GRCm39)	S1333P	probably benign	Het
Rpl7	A	G	1: 16,172,728 (GRCm39)	I197T	probably benign	Het
Sar1a	C	A	10: 61,521,395 (GRCm39)	Q81K	probably damaging	Het
Shank1	A	T	7: 44,006,220 (GRCm39)	H1979L	possibly damaging	Het
Slc10a2	C	T	8: 5,154,889 (GRCm39)	V99M	probably damaging	Het
Slc22a30	G	A	19: 8,313,165 (GRCm39)	Q436*	probably null	Het
Spata31e2	G	A	1: 26,721,466 (GRCm39)	P1238L	probably benign	Het
Speer4a2	T	C	5: 26,294,125 (GRCm39)	K18E	probably benign	Het
Szt2	C	T	4: 118,244,303 (GRCm39)	R1305H	probably damaging	Het
Ubash3a	G	A	17: 31,427,186 (GRCm39)	G32S	probably damaging	Het
Vmn1r200	G	A	13: 22,580,060 (GRCm39)	D279N	probably damaging	Het
Zbtb8a	T	C	4: 129,248,014 (GRCm39)	D419G	possibly damaging	Het

Other mutations in Card14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Card14	APN	11	119,233,971 (GRCm39)	missense	probably benign	0.10
IGL02070:Card14	APN	11	119,235,530 (GRCm39)	missense	probably damaging	1.00
IGL02632:Card14	APN	11	119,229,730 (GRCm39)	missense	probably benign	0.02
R0183:Card14	UTSW	11	119,217,524 (GRCm39)	missense	probably damaging	1.00
R0614:Card14	UTSW	11	119,213,653 (GRCm39)	missense	probably benign
R0766:Card14	UTSW	11	119,215,002 (GRCm39)	missense	probably damaging	1.00
R1705:Card14	UTSW	11	119,229,232 (GRCm39)	missense	possibly damaging	0.77
R1907:Card14	UTSW	11	119,222,085 (GRCm39)	missense	probably benign	0.00
R1992:Card14	UTSW	11	119,212,647 (GRCm39)	critical splice acceptor site	probably null
R3729:Card14	UTSW	11	119,224,758 (GRCm39)	missense	probably damaging	1.00
R4472:Card14	UTSW	11	119,224,784 (GRCm39)	missense	possibly damaging	0.77
R4578:Card14	UTSW	11	119,217,567 (GRCm39)	missense	probably benign	0.20
R4763:Card14	UTSW	11	119,234,001 (GRCm39)	missense	probably damaging	0.99
R5117:Card14	UTSW	11	119,229,076 (GRCm39)	missense	probably damaging	0.99
R5386:Card14	UTSW	11	119,208,115 (GRCm39)	missense	probably damaging	1.00
R6457:Card14	UTSW	11	119,230,428 (GRCm39)	nonsense	probably null
R6622:Card14	UTSW	11	119,224,814 (GRCm39)	missense	probably benign	0.06
R6998:Card14	UTSW	11	119,213,725 (GRCm39)	missense	probably damaging	1.00
R7269:Card14	UTSW	11	119,228,573 (GRCm39)	missense	probably damaging	1.00
R7304:Card14	UTSW	11	119,228,573 (GRCm39)	missense	probably damaging	1.00
R7310:Card14	UTSW	11	119,217,005 (GRCm39)	missense	probably null	1.00
R7612:Card14	UTSW	11	119,224,405 (GRCm39)	missense	possibly damaging	0.52
R7689:Card14	UTSW	11	119,216,328 (GRCm39)	missense	possibly damaging	0.66
R8181:Card14	UTSW	11	119,212,718 (GRCm39)	missense	probably damaging	1.00
R8188:Card14	UTSW	11	119,228,623 (GRCm39)	missense	probably damaging	1.00
R8493:Card14	UTSW	11	119,224,435 (GRCm39)	critical splice donor site	probably null
R8499:Card14	UTSW	11	119,222,070 (GRCm39)	missense	probably benign	0.10
R8924:Card14	UTSW	11	119,216,930 (GRCm39)	missense	possibly damaging	0.89
R9133:Card14	UTSW	11	119,231,835 (GRCm39)	missense	probably damaging	0.98
R9253:Card14	UTSW	11	119,212,759 (GRCm39)	missense	probably benign
R9464:Card14	UTSW	11	119,208,031 (GRCm39)	missense	probably benign	0.04
Z1177:Card14	UTSW	11	119,231,887 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAGAGGTCAGGGATCATCAACCAC -3'
(R):5'- TTCACTCTTTATCTTGGGCAGGCAC -3'

Sequencing Primer
(F):5'- atctgcttgcctctgcc -3'
(R):5'- CTATAGTGCAGCGAAGATTCTG -3'

Posted On

2014-01-05