Mutagenetix > Incidental Mutation

Incidental Mutation 'R9785:Cracd'

734282

Institutional Source

Beutler Lab

Gene Symbol

Cracd

Ensembl Gene

ENSMUSG00000036377

Gene Name

capping protein inhibiting regulator of actin

Synonyms

C530008M17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9785 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76804359-77021401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77015028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1185 (S1185C)

Ref Sequence

ENSEMBL: ENSMUSP00000113796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120639] [ENSMUST00000121160] [ENSMUST00000151567] [ENSMUST00000163347]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000120639
AA Change: S1185C

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: S1185C

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

unknown
Transcript: ENSMUST00000121160
AA Change: S1188C

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: S1188C

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

probably damaging
Transcript: ENSMUST00000151567
AA Change: S34C

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

Predicted Effect

unknown
Transcript: ENSMUST00000163347
AA Change: S1185C

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: S1185C

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,049,427 (GRCm39)	E634G	possibly damaging	Het
Adgre1	T	C	17: 57,785,930 (GRCm39)	L892P	probably damaging	Het
Adgrl1	A	T	8: 84,665,168 (GRCm39)	N1285I	probably damaging	Het
Alpk1	A	T	3: 127,473,594 (GRCm39)	M803K	probably benign	Het
Armt1	T	A	10: 4,389,606 (GRCm39)	W88R	probably damaging	Het
Cacna1d	A	T	14: 29,824,300 (GRCm39)		probably null	Het
Cd27	G	A	6: 125,213,945 (GRCm39)		probably benign	Het
Cebpb	A	G	2: 167,531,663 (GRCm39)	D241G	probably damaging	Het
Clec3b	T	A	9: 122,985,997 (GRCm39)	W132R	probably damaging	Het
Csn2	A	T	5: 87,842,502 (GRCm39)	V175D	possibly damaging	Het
Dnm1	A	T	2: 32,223,089 (GRCm39)	C442S	possibly damaging	Het
Dstyk	C	T	1: 132,381,038 (GRCm39)	T511I	probably damaging	Het
Gabra5	C	T	7: 57,140,584 (GRCm39)	V38I	probably benign	Het
Gjd2	A	T	2: 113,841,747 (GRCm39)	Y243*	probably null	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Hrnr	G	A	3: 93,238,861 (GRCm39)	R3033H	unknown	Het
Ivd	G	T	2: 118,710,970 (GRCm39)	R393L	probably damaging	Het
Jam2	T	C	16: 84,571,397 (GRCm39)	L8P	unknown	Het
Klhdc7b	G	T	15: 89,272,621 (GRCm39)	D510Y	probably damaging	Het
Lgals8	A	T	13: 12,462,051 (GRCm39)	F260I	probably damaging	Het
Lrrd1	T	C	5: 3,908,708 (GRCm39)	I660T	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Npc1l1	C	T	11: 6,180,090 (GRCm39)	A12T	unknown	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or5d47	T	C	2: 87,804,245 (GRCm39)	T255A	possibly damaging	Het
Rprm	C	T	2: 53,975,238 (GRCm39)	V27M	probably benign	Het
Scg3	G	T	9: 75,589,322 (GRCm39)	D110E	probably damaging	Het
Selenon	C	T	4: 134,270,374 (GRCm39)	G326D	probably damaging	Het
Sh3gl2	T	A	4: 85,273,618 (GRCm39)	Y57N	probably damaging	Het
Skint6	A	T	4: 112,740,884 (GRCm39)	L807M	possibly damaging	Het
Srl	A	G	16: 4,314,718 (GRCm39)	V308A	probably benign	Het
Tcf7	T	A	11: 52,173,773 (GRCm39)		probably benign	Het
Trdv2-2	A	T	14: 54,198,489 (GRCm39)	T14S	probably benign	Het
Usf3	A	G	16: 44,041,970 (GRCm39)	E2150G	probably benign	Het
Vmn2r104	G	A	17: 20,268,409 (GRCm39)	T20I	probably benign	Het
Wnt1	G	T	15: 98,688,752 (GRCm39)	V38L	probably benign	Het
Zbtb17	C	T	4: 141,194,271 (GRCm39)	T740M	possibly damaging	Het
Zdhhc6	T	C	19: 55,300,203 (GRCm39)	M125V	probably damaging	Het
Zfp202	A	G	9: 40,120,233 (GRCm39)	M225V	probably benign	Het
Zfp592	G	T	7: 80,673,245 (GRCm39)	V70F	probably damaging	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
R2483:Cracd	UTSW	5	77,004,256 (GRCm39)	missense	probably damaging	0.98
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
Z1176:Cracd	UTSW	5	77,005,093 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGAGCCGTGTTTTATGACCTAAC -3'
(R):5'- TGGCAATCACTACACGGTGG -3'

Sequencing Primer
(F):5'- GACCTAACTTTATAATCCGCTTGG -3'
(R):5'- TCACTACACGGTGGAAAACTG -3'

Posted On

2022-11-14