Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Cracdl'

593748

Institutional Source

Beutler Lab

Gene Symbol

Cracdl

Ensembl Gene

ENSMUSG00000026090

Gene Name

capping protein inhibiting regulator of actin like

Synonyms

2010300C02Rik

MMRRC Submission

045759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37650758-37758905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37664452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 482 (E482A)

Ref Sequence

ENSEMBL: ENSMUSP00000123803 (fasta)

Gene Model

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

AlphaFold

E9Q3M9

Predicted Effect

probably benign
Transcript: ENSMUST00000160023

SMART Domains

Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090

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

probably benign
Transcript: ENSMUST00000162875
AA Change: E482A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: E482A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	C	A	14: 33,774,570 (GRCm39)	L140F	unknown	Het
Actn1	T	C	12: 80,221,311 (GRCm39)	T581A	probably benign	Het
Ak9	T	C	10: 41,224,072 (GRCm39)	L495S		Het
Aldh5a1	T	C	13: 25,095,731 (GRCm39)	D462G	probably damaging	Het
Amz2	A	G	11: 109,319,833 (GRCm39)	D73G	probably damaging	Het
Ank2	A	G	3: 126,825,860 (GRCm39)	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,704,093 (GRCm39)	Y342H	probably benign	Het
Atp8b5	C	T	4: 43,366,735 (GRCm39)	T833I	probably benign	Het
Camkk2	A	G	5: 122,884,482 (GRCm39)	I313T	probably damaging	Het
Cdk18	T	C	1: 132,050,116 (GRCm39)	T20A	probably damaging	Het
Cenpf	A	T	1: 189,394,269 (GRCm39)	C479S	probably benign	Het
Cfap221	C	A	1: 119,889,659 (GRCm39)	E192*	probably null	Het
Cfap44	C	T	16: 44,254,149 (GRCm39)	H958Y	probably damaging	Het
Cic	A	T	7: 24,972,597 (GRCm39)	Q776L	possibly damaging	Het
Cldn17	C	A	16: 88,303,244 (GRCm39)	G162*	probably null	Het
Col19a1	T	A	1: 24,351,159 (GRCm39)	Y748F	probably benign	Het
Col27a1	C	T	4: 63,143,955 (GRCm39)	P548S	possibly damaging	Het
Ctsr	T	A	13: 61,310,381 (GRCm39)	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Defa34	G	T	8: 22,156,645 (GRCm39)	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,072,359 (GRCm39)	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,591,015 (GRCm39)	Q734*	probably null	Het
Dph1	A	T	11: 75,081,267 (GRCm39)	S7T	probably benign	Het
Dpp8	T	C	9: 64,949,618 (GRCm39)	V121A	probably benign	Het
Dst	G	A	1: 34,229,468 (GRCm39)	G2354S	probably benign	Het
Duox2	A	T	2: 122,111,245 (GRCm39)	L1453Q	probably damaging	Het
Ecpas	C	G	4: 58,832,660 (GRCm39)	C900S	unknown	Het
Exosc10	T	A	4: 148,642,955 (GRCm39)	S11T	probably benign	Het
Fetub	A	G	16: 22,758,059 (GRCm39)	T281A	probably benign	Het
Flii	A	T	11: 60,610,918 (GRCm39)	W504R	probably damaging	Het
Gm5093	T	C	17: 46,750,866 (GRCm39)	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,684,397 (GRCm39)	D375G	probably benign	Het
Hikeshi	A	T	7: 89,572,889 (GRCm39)	N101K	probably benign	Het
Hmcn2	T	C	2: 31,313,165 (GRCm39)	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,452,083 (GRCm39)	N259S	possibly damaging	Het
Irf6	T	C	1: 192,844,075 (GRCm39)	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,511,479 (GRCm39)	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,296,807 (GRCm39)	P487S	probably benign	Het
Lcp1	C	A	14: 75,443,651 (GRCm39)	Y222*	probably null	Het
Manea	T	C	4: 26,327,763 (GRCm39)	D426G	probably damaging	Het
Map3k20	G	T	2: 72,195,025 (GRCm39)	E101*	probably null	Het
Map3k20	C	G	2: 72,268,658 (GRCm39)	S555C	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myo6	C	T	9: 80,124,938 (GRCm39)	P6S	unknown	Het
Myoc	A	T	1: 162,467,014 (GRCm39)	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,965,500 (GRCm39)	M1183K	probably benign	Het
Or52e7	T	A	7: 104,685,114 (GRCm39)	H236Q	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,404 (GRCm39)	F26S	probably damaging	Het
Or5b21	T	C	19: 12,840,077 (GRCm39)	S313P	possibly damaging	Het
Or8b40	T	A	9: 38,027,188 (GRCm39)	L37*	probably null	Het
Osbpl11	C	G	16: 33,054,817 (GRCm39)	N633K	probably benign	Het
Pate7	T	C	9: 35,688,472 (GRCm39)	M38V	probably benign	Het
Pcdhgb5	A	G	18: 37,865,684 (GRCm39)	E493G	probably damaging	Het
Phf20	T	A	2: 156,136,058 (GRCm39)	W626R	probably damaging	Het
Pkp2	C	A	16: 16,058,523 (GRCm39)	Q402K	probably benign	Het
Plch2	C	T	4: 155,087,244 (GRCm39)	D336N	possibly damaging	Het
Plk1	T	C	7: 121,768,481 (GRCm39)	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430 (GRCm39)	E328D	probably benign	Het
Prss44	G	A	9: 110,646,379 (GRCm39)	V369M	probably benign	Het
Rilp	A	G	11: 75,401,798 (GRCm39)	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900 (GRCm39)	Q69*	probably null	Het
Ryr2	T	C	13: 11,776,201 (GRCm39)	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,333,141 (GRCm39)	R238G	possibly damaging	Het
Spen	A	G	4: 141,200,156 (GRCm39)	S2824P	probably damaging	Het
Stk4	T	C	2: 163,925,663 (GRCm39)	M77T	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Thsd1	C	T	8: 22,749,003 (GRCm39)	R625*	probably null	Het
Tle3	A	T	9: 61,320,138 (GRCm39)	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,020,763 (GRCm39)	E230*	probably null	Het
Vmn2r90	T	C	17: 17,953,596 (GRCm39)	S587P	probably benign	Het
Wt1	A	T	2: 104,957,161 (GRCm39)	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,300,306 (GRCm39)	I2482V	probably benign	Het
Zfpm2	A	T	15: 40,959,487 (GRCm39)	I189F	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
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
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'- TTCTTGGGAGGTGCCACATC -3'
(R):5'- TCTATCTACTGATGTCCCTGAGAGG -3'

Sequencing Primer
(F):5'- GAGGTGCCACATCTCCCTC -3'
(R):5'- GGACATGGGACCTTCCAAG -3'

Posted On

2019-11-12