Mutagenetix > Incidental Mutation

Incidental Mutation 'R5920:Cracdl'

461500

Institutional Source

Beutler Lab

Gene Symbol

Cracdl

Ensembl Gene

ENSMUSG00000026090

Gene Name

capping protein inhibiting regulator of actin like

Synonyms

2010300C02Rik

MMRRC Submission

044117-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5920 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37650758-37758905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37677062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 40 (K40M)

Ref Sequence

ENSEMBL: ENSMUSP00000123803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160589] [ENSMUST00000162875]

AlphaFold

E9Q3M9

Predicted Effect

probably benign
Transcript: ENSMUST00000160589

Predicted Effect

probably damaging
Transcript: ENSMUST00000162875
AA Change: K40M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: K40M

Domain	Start	End	E-Value	Type
low complexity region	13	43	N/A	INTRINSIC
Pfam:DUF4592	130	243	1.8e-33	PFAM
low complexity region	347	366	N/A	INTRINSIC
internal_repeat_2	387	461	2.31e-5	PROSPERO
internal_repeat_3	404	474	3.67e-5	PROSPERO
internal_repeat_1	411	526	3.02e-34	PROSPERO
internal_repeat_2	485	559	2.31e-5	PROSPERO
internal_repeat_1	537	652	3.02e-34	PROSPERO
internal_repeat_3	570	698	3.67e-5	PROSPERO
low complexity region	705	718	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	787	803	N/A	INTRINSIC
low complexity region	965	989	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,164,091 (GRCm39)	K31E	probably damaging	Het
Ak9	T	A	10: 41,296,672 (GRCm39)	C1473S	probably benign	Het
Aox1	T	C	1: 58,088,631 (GRCm39)	L139S	probably damaging	Het
Arhgap45	T	A	10: 79,864,965 (GRCm39)	V849D	possibly damaging	Het
Atp13a1	G	A	8: 70,252,746 (GRCm39)	E689K	probably benign	Het
Calcr	G	A	6: 3,722,994 (GRCm39)	R11W	probably damaging	Het
Casd1	T	A	6: 4,641,853 (GRCm39)	L710Q	probably null	Het
Cenpc1	T	A	5: 86,168,769 (GRCm39)	T743S	probably benign	Het
Cfap43	A	G	19: 47,749,335 (GRCm39)	V1185A	possibly damaging	Het
Chd2	A	G	7: 73,187,060 (GRCm39)	L33P	probably damaging	Het
Col24a1	G	T	3: 145,133,985 (GRCm39)	G889C	probably damaging	Het
Dbh	T	C	2: 27,067,243 (GRCm39)		probably benign	Het
Dcdc2c	T	C	12: 28,585,536 (GRCm39)	I154V	possibly damaging	Het
Eif2b5	G	T	16: 20,317,694 (GRCm39)	A11S	unknown	Het
Frmd4a	T	G	2: 4,337,927 (GRCm39)	N44K	probably benign	Het
Fsip2	C	T	2: 82,818,852 (GRCm39)	Q4862*	probably null	Het
Hectd4	C	T	5: 121,446,334 (GRCm39)	T1513I	possibly damaging	Het
Hspg2	A	T	4: 137,281,093 (GRCm39)	D3355V	probably damaging	Het
Ift56	A	G	6: 38,389,005 (GRCm39)	Y430C	probably damaging	Het
Il16	G	A	7: 83,301,552 (GRCm39)	T190I	probably benign	Het
Immt	T	A	6: 71,840,180 (GRCm39)	V319D	probably benign	Het
Kdm2b	G	C	5: 123,018,359 (GRCm39)	S989W	probably damaging	Het
Kmt2e	A	G	5: 23,704,440 (GRCm39)	E1211G	possibly damaging	Het
Ktn1	G	T	14: 47,961,481 (GRCm39)	G1061*	probably null	Het
Mast3	T	C	8: 71,240,577 (GRCm39)	I287V	probably benign	Het
Mrgpre	T	A	7: 143,335,465 (GRCm39)	T13S	probably benign	Het
Myoc	C	T	1: 162,467,128 (GRCm39)	A99V	probably benign	Het
Or10a49	C	A	7: 108,467,895 (GRCm39)	M155I	probably benign	Het
Otulinl	T	A	15: 27,664,442 (GRCm39)	R109S	possibly damaging	Het
Per3	G	A	4: 151,096,907 (GRCm39)	P873S	probably benign	Het
Phykpl	A	C	11: 51,493,622 (GRCm39)	E453A	probably benign	Het
Pkd2l2	A	T	18: 34,563,826 (GRCm39)	I514L	probably benign	Het
Plcl2	G	T	17: 50,915,703 (GRCm39)	R904L	probably damaging	Het
Ptpn1	A	G	2: 167,813,668 (GRCm39)	D137G	probably benign	Het
Rasal3	G	A	17: 32,614,143 (GRCm39)	P571S	probably damaging	Het
Sdha	A	G	13: 74,475,044 (GRCm39)		probably null	Het
Tbc1d31	C	A	15: 57,805,954 (GRCm39)	Q439K	probably benign	Het
Ttc12	T	C	9: 49,364,633 (GRCm39)	D381G	possibly damaging	Het
Uaca	T	A	9: 60,776,885 (GRCm39)	M424K	probably benign	Het
Usp33	G	T	3: 152,080,320 (GRCm39)	A484S	probably damaging	Het
Usp9y	A	G	Y: 1,316,730 (GRCm39)	S1940P	probably damaging	Het
Zfp532	G	A	18: 65,777,421 (GRCm39)	V893I	probably benign	Het

Other mutations in Cracdl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:Cracdl	APN	1	37,667,425 (GRCm39)	missense	probably damaging	0.99
IGL01413:Cracdl	APN	1	37,651,387 (GRCm39)	missense	possibly damaging	0.85
IGL01812:Cracdl	APN	1	37,664,446 (GRCm39)	missense	probably benign	0.06
IGL02183:Cracdl	APN	1	37,664,459 (GRCm39)	missense	possibly damaging	0.93
IGL02498:Cracdl	APN	1	37,662,926 (GRCm39)	missense	probably benign
IGL02713:Cracdl	APN	1	37,663,218 (GRCm39)	missense	possibly damaging	0.72
IGL02736:Cracdl	APN	1	37,676,954 (GRCm39)	missense	probably damaging	1.00
FR4449:Cracdl	UTSW	1	37,664,117 (GRCm39)	nonsense	probably null
FR4449:Cracdl	UTSW	1	37,664,116 (GRCm39)	missense	probably benign	0.40
FR4548:Cracdl	UTSW	1	37,664,183 (GRCm39)	missense	probably damaging	0.96
FR4548:Cracdl	UTSW	1	37,664,116 (GRCm39)	missense	probably benign	0.40
FR4548:Cracdl	UTSW	1	37,664,117 (GRCm39)	nonsense	probably null
FR4737:Cracdl	UTSW	1	37,664,117 (GRCm39)	nonsense	probably null
FR4737:Cracdl	UTSW	1	37,664,116 (GRCm39)	missense	probably benign	0.40
FR4976:Cracdl	UTSW	1	37,664,183 (GRCm39)	missense	probably damaging	0.96
FR4976:Cracdl	UTSW	1	37,664,116 (GRCm39)	missense	probably benign	0.40
FR4976:Cracdl	UTSW	1	37,664,117 (GRCm39)	nonsense	probably null
R0022:Cracdl	UTSW	1	37,667,326 (GRCm39)	missense	probably damaging	1.00
R0022:Cracdl	UTSW	1	37,667,326 (GRCm39)	missense	probably damaging	1.00
R0055:Cracdl	UTSW	1	37,663,337 (GRCm39)	missense	probably benign	0.18
R0153:Cracdl	UTSW	1	37,663,720 (GRCm39)	missense	probably benign
R0523:Cracdl	UTSW	1	37,683,710 (GRCm39)	start codon destroyed	probably null	0.94
R0699:Cracdl	UTSW	1	37,651,411 (GRCm39)	missense	possibly damaging	0.85
R0928:Cracdl	UTSW	1	37,663,663 (GRCm39)	missense	possibly damaging	0.85
R1457:Cracdl	UTSW	1	37,665,093 (GRCm39)	nonsense	probably null
R1759:Cracdl	UTSW	1	37,664,791 (GRCm39)	missense	probably benign	0.00
R1888:Cracdl	UTSW	1	37,663,364 (GRCm39)	missense	possibly damaging	0.53
R1888:Cracdl	UTSW	1	37,663,364 (GRCm39)	missense	possibly damaging	0.53
R2289:Cracdl	UTSW	1	37,651,342 (GRCm39)	missense	possibly damaging	0.53
R2421:Cracdl	UTSW	1	37,652,556 (GRCm39)	missense	probably benign	0.33
R2422:Cracdl	UTSW	1	37,652,556 (GRCm39)	missense	probably benign	0.33
R2509:Cracdl	UTSW	1	37,664,381 (GRCm39)	missense	probably benign
R2510:Cracdl	UTSW	1	37,664,381 (GRCm39)	missense	probably benign
R2511:Cracdl	UTSW	1	37,664,381 (GRCm39)	missense	probably benign
R3893:Cracdl	UTSW	1	37,670,539 (GRCm39)	missense	probably benign	0.00
R4351:Cracdl	UTSW	1	37,663,993 (GRCm39)	missense	probably benign
R4454:Cracdl	UTSW	1	37,663,834 (GRCm39)	missense	probably damaging	1.00
R4788:Cracdl	UTSW	1	37,670,556 (GRCm39)	missense	probably damaging	1.00
R4798:Cracdl	UTSW	1	37,664,046 (GRCm39)	missense	probably benign	0.12
R5599:Cracdl	UTSW	1	37,652,424 (GRCm39)	missense	possibly damaging	0.53
R6051:Cracdl	UTSW	1	37,663,306 (GRCm39)	missense	probably damaging	0.98
R6106:Cracdl	UTSW	1	37,652,493 (GRCm39)	missense	possibly damaging	0.53
R6794:Cracdl	UTSW	1	37,676,936 (GRCm39)	splice site	probably null
R6828:Cracdl	UTSW	1	37,663,898 (GRCm39)	missense	possibly damaging	0.53
R6930:Cracdl	UTSW	1	37,664,026 (GRCm39)	missense	possibly damaging	0.73
R7044:Cracdl	UTSW	1	37,651,361 (GRCm39)	missense	possibly damaging	0.85
R7069:Cracdl	UTSW	1	37,670,982 (GRCm39)	missense	probably damaging	1.00
R7149:Cracdl	UTSW	1	37,651,352 (GRCm39)	nonsense	probably null
R7296:Cracdl	UTSW	1	37,653,699 (GRCm39)	missense	possibly damaging	0.53
R7698:Cracdl	UTSW	1	37,664,452 (GRCm39)	missense	probably benign	0.12
R7714:Cracdl	UTSW	1	37,663,858 (GRCm39)	missense	probably benign	0.33
R8071:Cracdl	UTSW	1	37,663,010 (GRCm39)	nonsense	probably null
R8205:Cracdl	UTSW	1	37,664,047 (GRCm39)	missense	probably benign	0.06
R8443:Cracdl	UTSW	1	37,652,537 (GRCm39)	missense	probably benign	0.33
R8720:Cracdl	UTSW	1	37,652,522 (GRCm39)	missense	possibly damaging	0.53
R8917:Cracdl	UTSW	1	37,676,993 (GRCm39)	missense	probably damaging	0.99
R9056:Cracdl	UTSW	1	37,663,553 (GRCm39)	missense	possibly damaging	0.91
R9158:Cracdl	UTSW	1	37,670,442 (GRCm39)	missense	probably damaging	0.99
R9290:Cracdl	UTSW	1	37,663,634 (GRCm39)	missense	probably damaging	0.97
R9483:Cracdl	UTSW	1	37,670,496 (GRCm39)	missense	probably damaging	1.00
R9641:Cracdl	UTSW	1	37,663,592 (GRCm39)	missense	possibly damaging	0.85
X0025:Cracdl	UTSW	1	37,664,026 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CAGACAAGATCCTAAGGCACTG -3'
(R):5'- ACCAATATTTGTTTCAGGGCTGC -3'

Sequencing Primer
(F):5'- TCCTAAGGCACTGAAGATAAGAGCTC -3'
(R):5'- AATATTTGTTTCAGGGCTGCAGACC -3'

Posted On

2017-02-28