Mutagenetix > Incidental Mutation

Incidental Mutation 'R3883:Cracd'

308812

Institutional Source

Beutler Lab

Gene Symbol

Cracd

Ensembl Gene

ENSMUSG00000036377

Gene Name

capping protein inhibiting regulator of actin

Synonyms

C530008M17Rik

MMRRC Submission

040796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76804359-77021401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77004421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 261 (W261R)

Ref Sequence

ENSEMBL: ENSMUSP00000127212 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000120639
AA Change: W261R

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: W261R

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

unknown
Transcript: ENSMUST00000121160
AA Change: W261R

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: W261R

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

noncoding transcript
Transcript: ENSMUST00000152373

Predicted Effect

unknown
Transcript: ENSMUST00000163347
AA Change: W261R

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: W261R

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

Meta Mutation Damage Score

0.1626

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	C	T	8: 46,980,228 (GRCm39)	S423L	probably benign	Het
Ankmy1	T	G	1: 92,813,874 (GRCm39)	E435A	probably damaging	Het
Ano5	T	A	7: 51,216,052 (GRCm39)	M343K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
C3	T	C	17: 57,524,173 (GRCm39)		probably null	Het
Cdk17	T	C	10: 93,047,939 (GRCm39)		probably null	Het
Cntn2	A	G	1: 132,456,677 (GRCm39)	V123A	probably damaging	Het
Dchs1	A	G	7: 105,411,770 (GRCm39)	Y1449H	probably damaging	Het
Ddx42	T	A	11: 106,138,518 (GRCm39)	N772K	probably benign	Het
Dnah11	T	C	12: 117,942,188 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,455,382 (GRCm39)	F4L	probably benign	Het
Epb41l3	C	T	17: 69,581,111 (GRCm39)	R552*	probably null	Het
Epc1	T	C	18: 6,452,258 (GRCm39)	D267G	possibly damaging	Het
Fbxo22	A	T	9: 55,130,546 (GRCm39)	T169S	probably benign	Het
Fmnl1	A	G	11: 103,072,940 (GRCm39)	N144D	probably damaging	Het
Folh1	A	G	7: 86,424,864 (GRCm39)	L35P	possibly damaging	Het
Gm10220	A	C	5: 26,321,908 (GRCm39)	S255A	possibly damaging	Het
Gm15446	G	T	5: 110,088,313 (GRCm39)	V9L	probably damaging	Het
Hipk2	A	G	6: 38,676,200 (GRCm39)	L1011P	probably damaging	Het
Kif4-ps	G	T	12: 101,112,473 (GRCm39)	V201L	probably damaging	Het
Klk1b16	T	C	7: 43,788,887 (GRCm39)	V40A	possibly damaging	Het
Lgsn	C	A	1: 31,215,540 (GRCm39)	D3E	probably benign	Het
Mavs	T	C	2: 131,087,218 (GRCm39)	S239P	probably benign	Het
Mrtfb	T	A	16: 13,219,322 (GRCm39)	V667D	probably damaging	Het
Mtrf1	A	G	14: 79,656,707 (GRCm39)	Y403C	probably damaging	Het
Mycbp2	A	C	14: 103,532,686 (GRCm39)	L390V	probably damaging	Het
Neto2	A	G	8: 86,389,894 (GRCm39)	S190P	probably damaging	Het
Ngly1	A	G	14: 16,270,574 (GRCm38)	I195V	probably damaging	Het
Or10d4c	A	G	9: 39,558,420 (GRCm39)	I133V	probably benign	Het
Or13p5	T	C	4: 118,591,882 (GRCm39)	I52T	probably benign	Het
Pde4dip	T	C	3: 97,620,504 (GRCm39)	K1632E	probably damaging	Het
Pigk	T	C	3: 152,419,832 (GRCm39)	S21P	probably benign	Het
Rabggtb	A	G	3: 153,616,417 (GRCm39)	F82L	probably damaging	Het
Reep6	G	A	10: 80,171,369 (GRCm39)	R415Q	probably benign	Het
Serpinb13	T	C	1: 106,926,302 (GRCm39)	V159A	probably benign	Het
Slc5a8	T	A	10: 88,738,325 (GRCm39)	M196K	possibly damaging	Het
Sprr1a	G	A	3: 92,391,827 (GRCm39)	P58L	probably damaging	Het
Taf1a	A	T	1: 183,172,288 (GRCm39)	T10S	possibly damaging	Het
Tap1	T	A	17: 34,412,232 (GRCm39)	V479E	probably damaging	Het
Trpm4	C	T	7: 44,971,422 (GRCm39)		probably null	Het
Ush2a	T	C	1: 187,995,579 (GRCm39)	Y117H	probably benign	Het
Vmn2r58	A	T	7: 41,513,914 (GRCm39)	L243*	probably null	Het
Zbtb32	A	G	7: 30,290,569 (GRCm39)	I242T	probably benign	Het
Zbtb7a	T	C	10: 80,983,859 (GRCm39)	C434R	probably damaging	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
R4033:Cracd	UTSW	5	77,006,312 (GRCm39)	missense	unknown
R4401:Cracd	UTSW	5	76,996,763 (GRCm39)	missense	probably damaging	0.98
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'- GCAGCTTTGAGAGTCAGTCCTC -3'
(R):5'- TGCTCTGTACAGCGCTGTTC -3'

Sequencing Primer
(F):5'- TTGAGAGTCAGTCCTCCCTGG -3'
(R):5'- TGTTCCTCCGGACCAGACTG -3'

Posted On

2015-04-17