Mutagenetix > Incidental Mutation

Incidental Mutation 'R4401:Cracd'

326624

Institutional Source

Beutler Lab

Gene Symbol

Cracd

Ensembl Gene

ENSMUSG00000036377

Gene Name

capping protein inhibiting regulator of actin

Synonyms

C530008M17Rik

MMRRC Submission

041132-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4401 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76804359-77021401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76996763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 74 (V74I)

Ref Sequence

ENSEMBL: ENSMUSP00000127212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120639] [ENSMUST00000121160] [ENSMUST00000163347]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000120639
AA Change: V74I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: V74I

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121160
AA Change: V74I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: V74I

Domain	Start	End	E-Value	Type
Pfam:DUF4592	45	172	1.8e-41	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
low complexity region	1034	1047	N/A	INTRINSIC
low complexity region	1271	1283	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163347
AA Change: V74I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: V74I

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,752,390 (GRCm39)	I454V	possibly damaging	Het
Acvr2a	A	G	2: 48,789,714 (GRCm39)	T486A	probably benign	Het
Ap3b1	C	A	13: 94,554,607 (GRCm39)	L248I	probably damaging	Het
Atad2b	T	A	12: 4,990,145 (GRCm39)	C157S	probably damaging	Het
Cage1	T	A	13: 38,207,078 (GRCm39)	I256F	probably damaging	Het
Cct2	A	G	10: 116,893,714 (GRCm39)	I287T	possibly damaging	Het
Cntn4	A	G	6: 106,466,625 (GRCm39)	T176A	possibly damaging	Het
Cyp2c54	T	C	19: 40,060,615 (GRCm39)	N122S	probably benign	Het
Cytip	T	C	2: 58,023,947 (GRCm39)	D291G	probably benign	Het
Eef1d	C	T	15: 75,774,769 (GRCm39)	V213I	probably benign	Het
Fnbp4	A	G	2: 90,577,102 (GRCm39)	T145A	possibly damaging	Het
Fras1	C	A	5: 96,790,479 (GRCm39)	T951K	probably damaging	Het
Gm11937	C	T	11: 99,500,901 (GRCm39)	V39M	probably damaging	Het
Gm6712	C	T	17: 17,538,366 (GRCm39)		noncoding transcript	Het
Hira	A	G	16: 18,744,470 (GRCm39)	I352V	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Lpcat2	T	C	8: 93,599,683 (GRCm39)	V217A	possibly damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Or2a25	G	T	6: 42,889,260 (GRCm39)	E268*	probably null	Het
Or4k35	A	G	2: 111,100,178 (GRCm39)	F178S	probably damaging	Het
Or51f5	C	T	7: 102,424,006 (GRCm39)	R92*	probably null	Het
Pla2g1b	T	A	5: 115,608,947 (GRCm39)	Y47*	probably null	Het
Rfng	A	T	11: 120,673,306 (GRCm39)	V245E	possibly damaging	Het
Rpf2	A	G	10: 40,112,124 (GRCm39)	V104A	possibly damaging	Het
Rps6kc1	G	T	1: 190,532,155 (GRCm39)	H616N	probably benign	Het
Slc66a1	T	C	4: 139,033,854 (GRCm39)	I22V	probably benign	Het
Slc9b2	T	C	3: 135,042,305 (GRCm39)	V528A	probably benign	Het
Srgap1	T	C	10: 121,640,826 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,780,128 (GRCm39)	T3240A	possibly damaging	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,468,405 (GRCm39)	Y2854*	probably null	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het

Other mutations in Cracd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Cracd	APN	5	77,013,903 (GRCm39)	unclassified	probably benign
IGL00660:Cracd	APN	5	77,002,780 (GRCm39)	critical splice acceptor site	probably null
IGL00924:Cracd	APN	5	77,006,833 (GRCm39)	missense	unknown
IGL01025:Cracd	APN	5	76,805,921 (GRCm39)	intron	probably benign
IGL01122:Cracd	APN	5	77,018,522 (GRCm39)	makesense	probably null
IGL01393:Cracd	APN	5	77,006,818 (GRCm39)	missense	unknown
IGL01526:Cracd	APN	5	77,005,478 (GRCm39)	missense	unknown
IGL01986:Cracd	APN	5	77,006,457 (GRCm39)	missense	unknown
IGL02009:Cracd	APN	5	76,996,817 (GRCm39)	missense	possibly damaging	0.61
IGL02724:Cracd	APN	5	77,006,306 (GRCm39)	missense	unknown
IGL02869:Cracd	APN	5	77,006,890 (GRCm39)	missense	unknown
IGL03030:Cracd	APN	5	77,005,463 (GRCm39)	missense	unknown
IGL03150:Cracd	APN	5	77,015,097 (GRCm39)	missense	probably damaging	0.99
LCD18:Cracd	UTSW	5	76,806,589 (GRCm39)	intron	probably benign
R0975:Cracd	UTSW	5	77,004,165 (GRCm39)	splice site	probably benign
R1329:Cracd	UTSW	5	76,805,779 (GRCm39)	intron	probably benign
R1439:Cracd	UTSW	5	76,988,757 (GRCm39)	missense	probably damaging	0.99
R1750:Cracd	UTSW	5	77,005,522 (GRCm39)	missense	unknown
R1773:Cracd	UTSW	5	77,015,052 (GRCm39)	missense	possibly damaging	0.54
R1885:Cracd	UTSW	5	77,004,589 (GRCm39)	missense	unknown
R1924:Cracd	UTSW	5	77,006,470 (GRCm39)	missense	unknown
R2483:Cracd	UTSW	5	77,004,256 (GRCm39)	missense	probably damaging	0.98
R3840:Cracd	UTSW	5	77,006,858 (GRCm39)	missense	unknown
R3841:Cracd	UTSW	5	77,006,858 (GRCm39)	missense	unknown
R3874:Cracd	UTSW	5	76,988,739 (GRCm39)	missense	probably damaging	1.00
R3883:Cracd	UTSW	5	77,004,421 (GRCm39)	missense	unknown
R4033:Cracd	UTSW	5	77,006,312 (GRCm39)	missense	unknown
R4749:Cracd	UTSW	5	77,006,681 (GRCm39)	missense	unknown
R4884:Cracd	UTSW	5	76,996,682 (GRCm39)	missense	probably damaging	1.00
R4980:Cracd	UTSW	5	77,005,421 (GRCm39)	missense	unknown
R5010:Cracd	UTSW	5	76,805,681 (GRCm39)	utr 5 prime	probably benign
R5086:Cracd	UTSW	5	77,004,971 (GRCm39)	missense	unknown
R5468:Cracd	UTSW	5	76,988,610 (GRCm39)	intron	probably benign
R5786:Cracd	UTSW	5	77,014,043 (GRCm39)	splice site	probably null
R5813:Cracd	UTSW	5	77,006,275 (GRCm39)	missense	unknown
R5866:Cracd	UTSW	5	77,005,384 (GRCm39)	missense	unknown
R5928:Cracd	UTSW	5	76,989,581 (GRCm39)	intron	probably benign
R6273:Cracd	UTSW	5	77,005,568 (GRCm39)	missense	unknown
R6577:Cracd	UTSW	5	77,013,947 (GRCm39)	unclassified	probably benign
R6838:Cracd	UTSW	5	77,006,056 (GRCm39)	missense	unknown
R6849:Cracd	UTSW	5	77,005,004 (GRCm39)	missense	unknown
R6849:Cracd	UTSW	5	77,004,857 (GRCm39)	missense	unknown
R6914:Cracd	UTSW	5	77,004,854 (GRCm39)	missense	unknown
R7017:Cracd	UTSW	5	77,004,795 (GRCm39)	small deletion	probably benign
R7094:Cracd	UTSW	5	77,006,879 (GRCm39)	missense	unknown
R7367:Cracd	UTSW	5	77,004,449 (GRCm39)	missense	unknown
R7394:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R7436:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R7443:Cracd	UTSW	5	77,004,485 (GRCm39)	missense	unknown
R7500:Cracd	UTSW	5	76,805,905 (GRCm39)	missense	unknown
R7566:Cracd	UTSW	5	77,014,122 (GRCm39)	splice site	probably null
R7633:Cracd	UTSW	5	77,005,367 (GRCm39)	missense	unknown
R7728:Cracd	UTSW	5	77,005,316 (GRCm39)	missense	unknown
R7930:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R7985:Cracd	UTSW	5	76,805,897 (GRCm39)	missense	unknown
R8154:Cracd	UTSW	5	76,989,644 (GRCm39)	missense	unknown
R8463:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R8547:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R8805:Cracd	UTSW	5	77,006,489 (GRCm39)	missense	unknown
R8819:Cracd	UTSW	5	77,004,793 (GRCm39)	small deletion	probably benign
R8888:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R9256:Cracd	UTSW	5	76,988,757 (GRCm39)	missense	unknown
R9358:Cracd	UTSW	5	77,002,836 (GRCm39)	missense	probably damaging	1.00
R9417:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R9618:Cracd	UTSW	5	77,004,617 (GRCm39)	missense	unknown
R9628:Cracd	UTSW	5	77,004,923 (GRCm39)	missense	unknown
R9639:Cracd	UTSW	5	77,005,997 (GRCm39)	missense	unknown
R9762:Cracd	UTSW	5	77,006,555 (GRCm39)	missense	unknown
R9785:Cracd	UTSW	5	77,015,028 (GRCm39)	missense	unknown
Z1176:Cracd	UTSW	5	77,005,093 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTTCGAGGTTCCTTGGCATG -3'
(R):5'- TCAGTTCCCTCACAGTCTAAGC -3'

Sequencing Primer
(F):5'- CTTCCTGTCTATGCCGGGGAAC -3'
(R):5'- AGTTCCCTCACAGTCTAAGCATTAG -3'

Posted On

2015-07-07