Mutagenetix > Incidental Mutation

Incidental Mutation 'R0022:Cracdl'

15243

Institutional Source

Beutler Lab

Gene Symbol

Cracdl

Ensembl Gene

ENSMUSG00000026090

Gene Name

capping protein inhibiting regulator of actin like

Synonyms

2010300C02Rik

MMRRC Submission

038317-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0022 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37650758-37758905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37667326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 240 (R240Q)

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 damaging
Transcript: ENSMUST00000162875
AA Change: R240Q

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

SMART Domains

Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: R240Q

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

Meta Mutation Damage Score

0.0973

Coding Region Coverage

1x: 82.0%
3x: 74.9%
10x: 56.1%
20x: 37.0%

Validation Efficiency

97% (90/93)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aste1	T	A	9: 105,273,823 (GRCm39)	L21*	probably null	Het
Btbd10	G	A	7: 112,924,988 (GRCm39)	Q287*	probably null	Het
Cd244a	A	G	1: 171,401,330 (GRCm39)	D48G	probably benign	Het
Cdc20	T	A	4: 118,292,686 (GRCm39)	H354L	probably damaging	Het
Cdhr3	G	A	12: 33,132,263 (GRCm39)	T120I	probably damaging	Het
Chd8	A	T	14: 52,470,312 (GRCm39)	S433T	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col9a3	A	G	2: 180,261,549 (GRCm39)	D613G	probably damaging	Het
Coro7	C	T	16: 4,451,168 (GRCm39)	R507H	probably benign	Het
Csf1	A	T	3: 107,661,178 (GRCm39)	V113E	probably damaging	Het
Dclre1b	G	T	3: 103,710,464 (GRCm39)	H482Q	probably benign	Het
Ephb6	T	C	6: 41,591,503 (GRCm39)	V220A	probably damaging	Het
Ggct	C	A	6: 54,962,887 (GRCm39)	E175*	probably null	Het
Gm5316	T	C	6: 122,877,354 (GRCm39)		noncoding transcript	Het
Gzmn	A	G	14: 56,404,382 (GRCm39)	S152P	probably damaging	Het
Hoxa7	T	C	6: 52,194,363 (GRCm39)	N8S	probably damaging	Het
Il12rb2	A	G	6: 67,275,903 (GRCm39)	F630S	probably damaging	Het
Kit	A	G	5: 75,783,657 (GRCm39)	N378S	probably benign	Het
Lrp1b	A	T	2: 40,888,050 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,671,355 (GRCm39)	V1194D	probably damaging	Het
Mc5r	T	G	18: 68,471,853 (GRCm39)	S71A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Naa25	C	A	5: 121,556,039 (GRCm39)	L276M	probably damaging	Het
Nlrp1b	T	G	11: 71,052,755 (GRCm39)	K888T	possibly damaging	Het
Pabpc6	A	T	17: 9,888,145 (GRCm39)	N135K	probably benign	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pkd1	T	C	17: 24,813,793 (GRCm39)	W4086R	probably damaging	Het
Pmfbp1	C	T	8: 110,252,039 (GRCm39)	R395W	probably damaging	Het
Ppp1ca	T	G	19: 4,244,580 (GRCm39)	V213G	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef2	G	A	3: 78,995,207 (GRCm39)	R814C	probably damaging	Het
Rnasel	A	T	1: 153,636,521 (GRCm39)	I634F	probably damaging	Het
Rnf157	A	T	11: 116,240,276 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,471,011 (GRCm39)	S4567P	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Smcr8	T	A	11: 60,671,185 (GRCm39)	W778R	probably damaging	Het
Stat1	T	A	1: 52,179,789 (GRCm39)	L333Q	probably damaging	Het
Taar1	G	T	10: 23,796,625 (GRCm39)	A108S	probably benign	Het
Tro	C	G	X: 149,430,508 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,791,654 (GRCm39)		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
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
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

Posted On

2012-12-12