Mutagenetix > Incidental Mutation

Incidental Mutation 'R8738:Cap2'

663186

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

CAP, adenylate cyclase-associated protein, 2 (yeast)

Synonyms

MMRRC Submission

068585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46501848-46650281 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46531072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 73 (T73A)

Ref Sequence

ENSEMBL: ENSMUSP00000021802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021802] [ENSMUST00000119341] [ENSMUST00000225824]

AlphaFold

Q9CYT6

Predicted Effect

probably benign
Transcript: ENSMUST00000021802
AA Change: T73A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: T73A

Domain	Start	End	E-Value	Type
Pfam:CAP_N	5	301	2.6e-117	PFAM
CARP	358	395	1.06e-10	SMART
CARP	396	433	1.12e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119341
AA Change: T73A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: T73A

Domain	Start	End	E-Value	Type
Pfam:CAP_N	4	105	1.8e-25	PFAM
Pfam:CAP_N	99	198	8.2e-29	PFAM
CARP	246	283	1.06e-10	SMART
CARP	284	321	1.12e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225824
AA Change: T18A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are smaller, prone to eye infections and show microphthalmia, cardiac conduction defects and dilated cardiomyopathy, predominantly in males. Males are underrepresented at weaning and ~70% die suddenly by 12 weeks of age, whereas females survive at nearly expected levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	G	A	9: 15,284,918	T283M	probably damaging	Het
Abca9	A	G	11: 110,165,991	M1T	probably null	Het
Ackr1	T	C	1: 173,332,385	Y189C	probably damaging	Het
Acsm4	A	G	7: 119,705,041	D303G	probably benign	Het
Arfgef2	A	T	2: 166,866,947	M1060L	probably benign	Het
Arhgef40	T	A	14: 52,000,957	F1298I	probably damaging	Het
Atg2a	T	C	19: 6,256,644	I1453T	probably benign	Het
B4galnt1	A	T	10: 127,171,715	D495V	probably benign	Het
Brpf3	T	A	17: 28,821,240	D878E	probably benign	Het
C3	A	G	17: 57,204,015	*1664R	probably null	Het
Ccr6	A	T	17: 8,256,562	I200F	probably damaging	Het
Cdc42bpb	C	T	12: 111,307,787	G1021R	probably benign	Het
Cidea	C	A	18: 67,366,415	S124*	probably null	Het
Cnst	C	A	1: 179,592,709	T135K	probably benign	Het
Crebbp	A	T	16: 4,119,088	M805K	probably benign	Het
Crybb1	A	G	5: 112,263,573	Y119C	probably damaging	Het
Cux1	G	T	5: 136,373,366	T121K	probably damaging	Het
Dnah11	A	T	12: 118,085,649		probably null	Het
Dnmbp	T	C	19: 43,912,238	T48A	probably damaging	Het
Dysf	G	A	6: 84,194,371	G1787E	probably damaging	Het
Gcm2	T	A	13: 41,104,620	R177S	probably benign	Het
Gdf6	G	T	4: 9,859,429	R170S	probably damaging	Het
Gm16686	A	T	4: 88,755,538	M18K	unknown	Het
Gm36864	C	T	7: 44,236,880	Q179*	probably null	Het
Golgb1	A	G	16: 36,916,313	D2015G	probably damaging	Het
Gtf2i	A	G	5: 134,295,520	L30P	probably damaging	Het
Herc2	A	G	7: 56,148,654	E1955G	possibly damaging	Het
Hes3	A	T	4: 152,287,675	D37E	probably damaging	Het
Igha	A	G	12: 113,259,524	V161A	probably damaging	Het
Isl2	T	G	9: 55,545,438	S327A	probably benign	Het
Itk	A	G	11: 46,340,712	L339P	probably damaging	Het
Kcnb2	T	C	1: 15,710,424	S507P	probably benign	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lhfpl4	C	A	6: 113,194,073	V51L	possibly damaging	Het
Lhpp	A	G	7: 132,641,532	Y159C	probably damaging	Het
Lrwd1	C	A	5: 136,133,403	E159*	probably null	Het
Map3k13	A	G	16: 21,926,258	T856A	probably damaging	Het
Mcm8	A	G	2: 132,823,221	T206A	probably benign	Het
Megf6	A	G	4: 154,267,979	K1265R	probably benign	Het
Mrgprb2	A	G	7: 48,552,900	Y26H	probably benign	Het
Mug1	T	C	6: 121,840,249		probably benign	Het
Mysm1	C	T	4: 94,967,959	G134S	probably damaging	Het
Nlrp3	A	C	11: 59,549,390	I598L	probably benign	Het
Npas2	A	T	1: 39,292,716	I71F	possibly damaging	Het
Nr1h5	A	G	3: 102,954,699	S85P	probably benign	Het
Nrcam	T	A	12: 44,572,292	V868D	possibly damaging	Het
Oas1a	A	G	5: 120,901,956	F191L	probably damaging	Het
Olfr761	A	T	17: 37,952,782	Y81N	possibly damaging	Het
Orc3	A	T	4: 34,599,778	L125H	possibly damaging	Het
Osbpl7	A	G	11: 97,056,077	E402G	possibly damaging	Het
Otof	G	A	5: 30,388,624	Q462*	probably null	Het
Phlda2	A	C	7: 143,502,222	I90S	probably damaging	Het
Plin3	C	T	17: 56,286,490	V75I	probably benign	Het
Pms1	A	T	1: 53,282,036	S13T	possibly damaging	Het
Ppm1d	A	G	11: 85,345,906	K504E	probably damaging	Het
Rflna	A	T	5: 125,010,477	I93F	probably damaging	Het
Rnpc3	T	A	3: 113,621,156	M193L	probably benign	Het
Sema3e	A	T	5: 14,164,155	I145F	possibly damaging	Het
Serpinb1b	C	A	13: 33,087,517	N90K	probably damaging	Het
Sfswap	A	G	5: 129,543,281	D538G	possibly damaging	Het
Snx14	A	T	9: 88,407,400	D266E	possibly damaging	Het
Stat4	C	T	1: 52,076,552	T217M	possibly damaging	Het
Taf13	T	C	3: 108,578,128	M40T	probably damaging	Het
Tenm4	A	G	7: 96,873,840	T1530A	probably damaging	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tnfrsf14	T	C	4: 154,923,253	I220M	possibly damaging	Het
Tnk2	T	C	16: 32,665,900	W60R	probably damaging	Het
Tph2	A	T	10: 115,179,709		probably benign	Het
Unc13b	A	T	4: 43,177,564	K2797N	unknown	Het
Upf1	G	A	8: 70,333,322	P996S	probably benign	Het
Upf1	C	G	8: 70,333,323	M995I	probably benign	Het
Vcan	C	T	13: 89,692,320	V1702M	probably benign	Het
Vmn2r57	T	C	7: 41,427,596	D382G	probably benign	Het
Xxylt1	C	T	16: 31,081,146	A64T	probably benign	Het
Zcchc8	A	G	5: 123,703,007	S407P	probably damaging	Het
Zdhhc19	T	A	16: 32,498,369	F109Y	probably damaging	Het
Zfp638	T	C	6: 83,954,763		probably null	Het
Zfp691	A	G	4: 119,170,664	S124P	probably damaging	Het
Zfp804a	T	A	2: 82,259,106	V1093D	probably damaging	Het
Zfp986	A	C	4: 145,898,980	Q70P	probably benign	Het

Other mutations in Cap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Cap2	APN	13	46639949	splice site	probably benign
IGL01927:Cap2	APN	13	46635633	missense	probably benign	0.03
IGL02213:Cap2	APN	13	46635611	splice site	probably benign
IGL02511:Cap2	APN	13	46531022	start codon destroyed	probably null	0.12
IGL02871:Cap2	APN	13	46525492	missense	probably benign	0.00
R0063:Cap2	UTSW	13	46638032	splice site	probably benign
R0063:Cap2	UTSW	13	46638032	splice site	probably benign
R0234:Cap2	UTSW	13	46638022	critical splice donor site	probably null
R0234:Cap2	UTSW	13	46638022	critical splice donor site	probably null
R0385:Cap2	UTSW	13	46560547	missense	probably damaging	1.00
R0387:Cap2	UTSW	13	46560516	missense	probably damaging	0.99
R0712:Cap2	UTSW	13	46615361	splice site	probably null
R1489:Cap2	UTSW	13	46609635	missense	probably damaging	1.00
R1666:Cap2	UTSW	13	46615323	missense	probably damaging	0.98
R1668:Cap2	UTSW	13	46615323	missense	probably damaging	0.98
R1676:Cap2	UTSW	13	46637859	missense	probably damaging	1.00
R1756:Cap2	UTSW	13	46531013	missense	probably benign	0.11
R1822:Cap2	UTSW	13	46615347	missense	probably benign	0.03
R1867:Cap2	UTSW	13	46640079	missense	probably damaging	1.00
R1972:Cap2	UTSW	13	46637899	missense	probably damaging	0.98
R1990:Cap2	UTSW	13	46637881	missense	possibly damaging	0.93
R1991:Cap2	UTSW	13	46637881	missense	possibly damaging	0.93
R1992:Cap2	UTSW	13	46637881	missense	possibly damaging	0.93
R2144:Cap2	UTSW	13	46560502	critical splice acceptor site	probably null
R3039:Cap2	UTSW	13	46639841	missense	probably benign	0.20
R4024:Cap2	UTSW	13	46637841	splice site	probably benign
R4554:Cap2	UTSW	13	46635774	missense	probably damaging	1.00
R4748:Cap2	UTSW	13	46639826	missense	possibly damaging	0.64
R4821:Cap2	UTSW	13	46610110	missense	probably damaging	0.99
R4876:Cap2	UTSW	13	46531021	start codon destroyed	probably null
R4902:Cap2	UTSW	13	46531025	missense	probably damaging	0.99
R5320:Cap2	UTSW	13	46648364	makesense	probably null
R5666:Cap2	UTSW	13	46531083	splice site	probably null
R5670:Cap2	UTSW	13	46531083	splice site	probably null
R6086:Cap2	UTSW	13	46635712	missense	probably damaging	1.00
R6728:Cap2	UTSW	13	46639859	missense	possibly damaging	0.87
R6842:Cap2	UTSW	13	46646625	missense	probably damaging	1.00
R7785:Cap2	UTSW	13	46635748	missense	probably benign
R7889:Cap2	UTSW	13	46646575	missense	probably damaging	0.99
R8065:Cap2	UTSW	13	46637861	missense	probably damaging	1.00
R8205:Cap2	UTSW	13	46615263	missense	probably damaging	1.00
R8425:Cap2	UTSW	13	46609732	missense	probably damaging	0.98
R8731:Cap2	UTSW	13	46646530	missense	probably benign	0.00
R9320:Cap2	UTSW	13	46615342	missense	probably benign	0.04
R9491:Cap2	UTSW	13	46637890	missense	possibly damaging	0.92
R9686:Cap2	UTSW	13	46525450	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCGTAAATGTGGGGTGAGCG -3'
(R):5'- GGGCAGAACTCTCTTGTCTC -3'

Sequencing Primer
(F):5'- GTAACAGTGATGGTATCCAGCCTC -3'
(R):5'- CACTCATCTCTGAATTCCTGGTAC -3'

Posted On

2021-03-08