Mutagenetix > Incidental Mutation

Incidental Mutation 'R2483:Cracd'

250642

Institutional Source

Beutler Lab

Gene Symbol

Cracd

Ensembl Gene

ENSMUSG00000036377

Gene Name

capping protein inhibiting regulator of actin

Synonyms

C530008M17Rik

MMRRC Submission

040407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76804359-77021401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77004256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 206 (I206F)

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: I206F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: I206F

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: I206F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: I206F

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

probably damaging
Transcript: ENSMUST00000163347
AA Change: I206F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: I206F

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Ano6	A	T	15: 95,863,855 (GRCm39)	T792S	probably benign	Het
Atm	A	T	9: 53,421,566 (GRCm39)	V715D	probably damaging	Het
Avl9	A	G	6: 56,713,828 (GRCm39)	D362G	probably benign	Het
Bin1	T	A	18: 32,547,280 (GRCm39)	S152R	probably damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Btrc	A	G	19: 45,504,497 (GRCm39)	D397G	probably damaging	Het
Cables2	A	T	2: 179,902,222 (GRCm39)	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,389,221 (GRCm39)	L228P	probably damaging	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cdh26	A	T	2: 178,108,382 (GRCm39)	S327C	probably damaging	Het
Cep78	T	C	19: 15,938,344 (GRCm39)	K535E	probably damaging	Het
Ces1a	A	G	8: 93,753,969 (GRCm39)	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,741,347 (GRCm39)	R2524I	probably damaging	Het
Dctn1	G	A	6: 83,171,169 (GRCm39)	R661H	probably damaging	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Emx1	T	C	6: 85,165,237 (GRCm39)	S105P	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Fam193a	A	T	5: 34,623,102 (GRCm39)	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,347,028 (GRCm39)	Q207R	probably benign	Het
Gm5460	G	A	14: 33,767,775 (GRCm39)	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,783,660 (GRCm39)	I249T	probably benign	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igfn1	T	C	1: 135,897,275 (GRCm39)	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,161,245 (GRCm39)	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,076,710 (GRCm39)	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,357,758 (GRCm39)	C94G	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Myh1	A	T	11: 67,102,052 (GRCm39)	M811L	probably benign	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,755,565 (GRCm39)	T979A	probably benign	Het
Myo18b	A	T	5: 113,006,274 (GRCm39)	C879S	probably damaging	Het
Myom1	A	G	17: 71,384,807 (GRCm39)	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,215,542 (GRCm39)	C74R	possibly damaging	Het
Obscn	A	G	11: 58,970,972 (GRCm39)	F2514L	probably damaging	Het
Or4a69	G	A	2: 89,313,471 (GRCm39)	Q3*	probably null	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
Or5p81	CAAATA	CA	7: 108,266,869 (GRCm39)		probably null	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcdha5	G	T	18: 37,094,542 (GRCm39)	M350I	probably benign	Het
Pcdha5	G	A	18: 37,094,834 (GRCm39)	V448M	probably damaging	Het
Pex12	C	T	11: 83,188,455 (GRCm39)	R180H	possibly damaging	Het
Pip4p1	C	G	14: 51,167,749 (GRCm39)	V59L	probably damaging	Het
Pkd1l1	A	T	11: 8,912,701 (GRCm39)	V168E	probably damaging	Het
Prokr2	T	A	2: 132,223,095 (GRCm39)	D149V	probably damaging	Het
Rnf123	A	G	9: 107,940,720 (GRCm39)	V707A	probably benign	Het
Ryr2	T	C	13: 11,774,589 (GRCm39)	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,406,117 (GRCm39)	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,309,260 (GRCm39)		probably null	Het
Shfl	A	T	9: 20,784,473 (GRCm39)	I186F	possibly damaging	Het
Skic3	A	G	13: 76,330,986 (GRCm39)	E1472G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Snapc1	A	G	12: 74,011,417 (GRCm39)	T28A	probably benign	Het
Soat1	T	C	1: 156,258,669 (GRCm39)	Y528C	probably damaging	Het
Spem1	G	A	11: 69,712,344 (GRCm39)	R107C	possibly damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,016,388 (GRCm39)	N691K	probably damaging	Het
Syne2	A	T	12: 76,142,311 (GRCm39)	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tenm3	G	A	8: 48,693,305 (GRCm39)	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,030,809 (GRCm39)	V1048D	probably damaging	Het
Vav3	T	C	3: 109,248,482 (GRCm39)	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Wwp2	A	G	8: 108,275,167 (GRCm39)	D388G	probably damaging	Het
Xirp2	A	T	2: 67,355,336 (GRCm39)	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,360,701 (GRCm39)		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
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
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'- GCCCTCTGGATGTTAAGAGC -3'
(R):5'- TGCTCTGTACAGCGCTGTTC -3'

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

Posted On

2014-12-04