Mutagenetix > Incidental Mutation

Incidental Mutation 'R2289:Cracdl'

244194

Institutional Source

Beutler Lab

Gene Symbol

Cracdl

Ensembl Gene

ENSMUSG00000026090

Gene Name

capping protein inhibiting regulator of actin like

Synonyms

2010300C02Rik

MMRRC Submission

040288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37650758-37758905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37651342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1175 (K1175R)

Ref Sequence

ENSEMBL: ENSMUSP00000123803 (fasta)

Gene Model

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

AlphaFold

E9Q3M9

Predicted Effect

unknown
Transcript: ENSMUST00000160023
AA Change: K651R

SMART Domains

Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090
AA Change: K651R

Domain	Start	End	E-Value	Type
internal_repeat_1	2	65	4.52e-24	PROSPERO
internal_repeat_1	65	128	4.52e-24	PROSPERO
low complexity region	181	194	N/A	INTRINSIC
low complexity region	223	237	N/A	INTRINSIC
low complexity region	263	279	N/A	INTRINSIC
low complexity region	441	465	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160659

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162875
AA Change: K1175R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: K1175R

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp12a	G	A	14: 56,610,719 (GRCm39)	V288I	possibly damaging	Het
Cntn6	C	T	6: 104,545,989 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cplx3	T	A	9: 57,520,941 (GRCm39)	E220V	possibly damaging	Het
Dcaf10	T	A	4: 45,359,816 (GRCm39)	W244R	probably damaging	Het
Dixdc1	A	G	9: 50,595,172 (GRCm39)		probably null	Het
Dlg4	T	A	11: 69,917,752 (GRCm39)	Y12N	probably damaging	Het
Fsd1l	T	A	4: 53,696,931 (GRCm39)	Y442N	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hcrt	C	A	11: 100,652,745 (GRCm39)	A90S	probably damaging	Het
Itga6	T	A	2: 71,648,873 (GRCm39)	V119D	probably damaging	Het
Klrh1	T	C	6: 129,745,140 (GRCm39)	N152S	probably null	Het
Lmtk2	T	A	5: 144,112,924 (GRCm39)	S1215T	possibly damaging	Het
Loxl2	G	A	14: 69,930,524 (GRCm39)	E763K	probably benign	Het
Mcrip1	T	C	11: 120,435,530 (GRCm39)	E35G	probably damaging	Het
Nle1	T	A	11: 82,793,879 (GRCm39)	I386F	probably benign	Het
Nqo1	T	C	8: 108,119,630 (GRCm39)	I8V	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Pax8	T	C	2: 24,330,752 (GRCm39)	D227G	probably benign	Het
Phf14	T	C	6: 12,047,845 (GRCm39)	C885R	probably damaging	Het
Rhobtb3	A	C	13: 76,059,046 (GRCm39)	C251G	probably damaging	Het
Samd13	C	T	3: 146,368,446 (GRCm39)	A49T	probably damaging	Het
Snrpa1	T	A	7: 65,713,586 (GRCm39)	V101E	probably benign	Het
Styx	A	G	14: 45,592,404 (GRCm39)	E20G	possibly damaging	Het
Thoc1	T	C	18: 9,984,488 (GRCm39)	Y325H	probably damaging	Het
Tmem163	T	A	1: 127,423,477 (GRCm39)	T262S	possibly damaging	Het
Tsr1	T	G	11: 74,790,111 (GRCm39)	L102R	probably damaging	Het
Vash1	G	C	12: 86,726,952 (GRCm39)	R64P	probably damaging	Het
Vps13b	A	C	15: 35,572,251 (GRCm39)	D956A	probably damaging	Het
Vrk1	G	A	12: 106,024,120 (GRCm39)	G199S	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp870	A	T	17: 33,102,334 (GRCm39)	S333T	probably benign	Het
Zranb1	T	C	7: 132,551,768 (GRCm39)	Y140H	probably damaging	Het
Zscan4b	A	G	7: 10,635,789 (GRCm39)		probably null	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
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
R5920:Cracdl	UTSW	1	37,677,062 (GRCm39)	missense	probably damaging	1.00
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'- AATGGCGCCCCTAAACTTC -3'
(R):5'- GAGGCTTAGCGAAAACCCAC -3'

Sequencing Primer
(F):5'- CACTGAGGCTGTCTGCTG -3'
(R):5'- GCTTAGCGAAAACCCACACTGG -3'

Posted On

2014-10-30