Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Crocc'

168212

Institutional Source

Beutler Lab

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

MMRRC Submission

039562-MU

Accession Numbers

Genbank: NM_172122;MGI: 3529431

Is this an essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141016637-141060550 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141019737 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1587 (T1587A)

Ref Sequence

ENSEMBL: ENSMUSP00000126543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040222] [ENSMUST00000071977] [ENSMUST00000097816] [ENSMUST00000102491] [ENSMUST00000166376] [ENSMUST00000168157]

AlphaFold

Q8CJ40

Predicted Effect

probably benign
Transcript: ENSMUST00000040222
AA Change: T1587A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: T1587A

Domain	Start	End	E-Value	Type
Pfam:Rootletin	1	173	6.1e-48	PFAM
low complexity region	190	217	N/A	INTRINSIC
internal_repeat_2	298	315	1.08e-6	PROSPERO
low complexity region	329	350	N/A	INTRINSIC
internal_repeat_3	363	393	5.38e-6	PROSPERO
internal_repeat_6	369	392	2.67e-5	PROSPERO
low complexity region	397	411	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	453	474	N/A	INTRINSIC
low complexity region	624	643	N/A	INTRINSIC
low complexity region	699	716	N/A	INTRINSIC
low complexity region	845	875	N/A	INTRINSIC
internal_repeat_4	886	904	2.67e-5	PROSPERO
internal_repeat_7	893	906	5.96e-5	PROSPERO
internal_repeat_2	893	910	1.08e-6	PROSPERO
internal_repeat_4	897	914	2.67e-5	PROSPERO
internal_repeat_1	912	937	1.97e-8	PROSPERO
internal_repeat_7	1028	1041	5.96e-5	PROSPERO
low complexity region	1107	1124	N/A	INTRINSIC
internal_repeat_5	1138	1164	2.67e-5	PROSPERO
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1253	1269	N/A	INTRINSIC
low complexity region	1270	1289	N/A	INTRINSIC
low complexity region	1297	1309	N/A	INTRINSIC
internal_repeat_6	1533	1556	2.67e-5	PROSPERO
low complexity region	1559	1576	N/A	INTRINSIC
coiled coil region	1580	1707	N/A	INTRINSIC
coiled coil region	1728	1832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071977

SMART Domains

Protein: ENSMUSP00000071868
Gene: ENSMUSG00000060572

Domain	Start	End	E-Value	Type
Pfam:MAGP	3	153	1.2e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097816
AA Change: T1587A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: T1587A

Domain	Start	End	E-Value	Type
Pfam:Rootletin	1	173	6.1e-48	PFAM
low complexity region	190	217	N/A	INTRINSIC
internal_repeat_2	298	315	1.08e-6	PROSPERO
low complexity region	329	350	N/A	INTRINSIC
internal_repeat_3	363	393	5.38e-6	PROSPERO
internal_repeat_6	369	392	2.67e-5	PROSPERO
low complexity region	397	411	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	453	474	N/A	INTRINSIC
low complexity region	624	643	N/A	INTRINSIC
low complexity region	699	716	N/A	INTRINSIC
low complexity region	845	875	N/A	INTRINSIC
internal_repeat_4	886	904	2.67e-5	PROSPERO
internal_repeat_7	893	906	5.96e-5	PROSPERO
internal_repeat_2	893	910	1.08e-6	PROSPERO
internal_repeat_4	897	914	2.67e-5	PROSPERO
internal_repeat_1	912	937	1.97e-8	PROSPERO
internal_repeat_7	1028	1041	5.96e-5	PROSPERO
low complexity region	1107	1124	N/A	INTRINSIC
internal_repeat_5	1138	1164	2.67e-5	PROSPERO
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1253	1269	N/A	INTRINSIC
low complexity region	1270	1289	N/A	INTRINSIC
low complexity region	1297	1309	N/A	INTRINSIC
internal_repeat_6	1533	1556	2.67e-5	PROSPERO
low complexity region	1559	1576	N/A	INTRINSIC
coiled coil region	1580	1707	N/A	INTRINSIC
coiled coil region	1728	1832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102491
AA Change: T1751A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: T1751A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	77	93	N/A	INTRINSIC
Pfam:Rootletin	158	336	9.7e-65	PFAM
low complexity region	354	381	N/A	INTRINSIC
internal_repeat_2	462	479	1.77e-6	PROSPERO
low complexity region	493	514	N/A	INTRINSIC
internal_repeat_3	527	557	8.63e-6	PROSPERO
internal_repeat_6	533	556	4.21e-5	PROSPERO
low complexity region	561	575	N/A	INTRINSIC
low complexity region	576	594	N/A	INTRINSIC
low complexity region	617	638	N/A	INTRINSIC
low complexity region	788	807	N/A	INTRINSIC
low complexity region	863	880	N/A	INTRINSIC
low complexity region	1009	1039	N/A	INTRINSIC
internal_repeat_4	1050	1068	4.21e-5	PROSPERO
internal_repeat_7	1057	1070	9.31e-5	PROSPERO
internal_repeat_2	1057	1074	1.77e-6	PROSPERO
internal_repeat_4	1061	1078	4.21e-5	PROSPERO
internal_repeat_1	1076	1101	3.36e-8	PROSPERO
internal_repeat_7	1192	1205	9.31e-5	PROSPERO
low complexity region	1271	1288	N/A	INTRINSIC
internal_repeat_5	1302	1328	4.21e-5	PROSPERO
low complexity region	1354	1365	N/A	INTRINSIC
low complexity region	1417	1433	N/A	INTRINSIC
low complexity region	1434	1453	N/A	INTRINSIC
low complexity region	1461	1473	N/A	INTRINSIC
internal_repeat_6	1697	1720	4.21e-5	PROSPERO
low complexity region	1723	1740	N/A	INTRINSIC
coiled coil region	1744	1871	N/A	INTRINSIC
coiled coil region	1892	1996	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151455

Predicted Effect

probably benign
Transcript: ENSMUST00000166376

SMART Domains

Protein: ENSMUSP00000132711
Gene: ENSMUSG00000060572

Domain	Start	End	E-Value	Type
Pfam:MAGP	2	153	2e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168157
AA Change: T1587A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: T1587A

Domain	Start	End	E-Value	Type
Pfam:Rootletin	1	173	6.1e-48	PFAM
low complexity region	190	217	N/A	INTRINSIC
internal_repeat_2	298	315	1.08e-6	PROSPERO
low complexity region	329	350	N/A	INTRINSIC
internal_repeat_3	363	393	5.38e-6	PROSPERO
internal_repeat_6	369	392	2.67e-5	PROSPERO
low complexity region	397	411	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	453	474	N/A	INTRINSIC
low complexity region	624	643	N/A	INTRINSIC
low complexity region	699	716	N/A	INTRINSIC
low complexity region	845	875	N/A	INTRINSIC
internal_repeat_4	886	904	2.67e-5	PROSPERO
internal_repeat_7	893	906	5.96e-5	PROSPERO
internal_repeat_2	893	910	1.08e-6	PROSPERO
internal_repeat_4	897	914	2.67e-5	PROSPERO
internal_repeat_1	912	937	1.97e-8	PROSPERO
internal_repeat_7	1028	1041	5.96e-5	PROSPERO
low complexity region	1107	1124	N/A	INTRINSIC
internal_repeat_5	1138	1164	2.67e-5	PROSPERO
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1253	1269	N/A	INTRINSIC
low complexity region	1270	1289	N/A	INTRINSIC
low complexity region	1297	1309	N/A	INTRINSIC
internal_repeat_6	1533	1556	2.67e-5	PROSPERO
low complexity region	1559	1576	N/A	INTRINSIC
coiled coil region	1580	1707	N/A	INTRINSIC
coiled coil region	1728	1832	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia. However, photoreceptors degenerate over time, and lungs appear prone to pathological changes. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Gene trapped(3)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,637,158	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC024139	A	G	15: 76,124,326	V350A	possibly damaging	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Flii	T	C	11: 60,721,606		probably null	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Hells	A	G	19: 38,967,765	K802E	probably damaging	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,402,681	S652P	probably benign	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232	T323A	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr512	T	C	7: 108,713,941	V184A	possibly damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Txndc11	A	G	16: 11,075,062	S935P	probably damaging	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,020,201		probably null	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		probably benign	Het

Other mutations in Crocc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Crocc	APN	4	141022112	missense	probably damaging	1.00
IGL01474:Crocc	APN	4	141035392	splice site	probably benign
IGL01859:Crocc	APN	4	141029290	missense	probably benign	0.07
IGL02161:Crocc	APN	4	141033991	missense	probably benign	0.01
IGL02244:Crocc	APN	4	141037920	missense	probably benign	0.00
IGL02970:Crocc	APN	4	141030246	missense	possibly damaging	0.49
N/A:Crocc	UTSW	4	141021746	missense	probably damaging	1.00
R0158:Crocc	UTSW	4	141042242	splice site	probably benign
R0280:Crocc	UTSW	4	141028426	missense	probably damaging	1.00
R0448:Crocc	UTSW	4	141042191	missense	probably damaging	1.00
R0532:Crocc	UTSW	4	141030247	missense	possibly damaging	0.95
R0597:Crocc	UTSW	4	141019913	missense	probably benign	0.06
R0597:Crocc	UTSW	4	141017071	missense	probably benign
R0761:Crocc	UTSW	4	141029776	missense	probably benign	0.00
R0761:Crocc	UTSW	4	141047076	missense	probably benign	0.01
R1238:Crocc	UTSW	4	141035364	missense	probably benign	0.00
R1460:Crocc	UTSW	4	141029240	nonsense	probably null
R1557:Crocc	UTSW	4	141025465	missense	probably damaging	0.96
R1561:Crocc	UTSW	4	141030268	missense	probably damaging	1.00
R1641:Crocc	UTSW	4	141017077	missense	probably benign	0.00
R1709:Crocc	UTSW	4	141026099	critical splice donor site	probably null
R1785:Crocc	UTSW	4	141021802	missense	probably damaging	0.99
R1786:Crocc	UTSW	4	141021802	missense	probably damaging	0.99
R1793:Crocc	UTSW	4	141019309	missense	probably damaging	1.00
R1897:Crocc	UTSW	4	141018736	missense	probably damaging	1.00
R1935:Crocc	UTSW	4	141034058	missense	possibly damaging	0.78
R2037:Crocc	UTSW	4	141046942	critical splice donor site	probably null
R2127:Crocc	UTSW	4	141017096	missense	probably damaging	1.00
R2129:Crocc	UTSW	4	141017096	missense	probably damaging	1.00
R2130:Crocc	UTSW	4	141029102	missense	probably benign	0.04
R2136:Crocc	UTSW	4	141032954	missense	probably damaging	1.00
R2298:Crocc	UTSW	4	141025459	missense	probably benign	0.30
R2847:Crocc	UTSW	4	141018756	missense	probably damaging	0.97
R2848:Crocc	UTSW	4	141018756	missense	probably damaging	0.97
R2913:Crocc	UTSW	4	141020350	missense	probably damaging	1.00
R3415:Crocc	UTSW	4	141046447	missense	possibly damaging	0.75
R3416:Crocc	UTSW	4	141046447	missense	possibly damaging	0.75
R3417:Crocc	UTSW	4	141046447	missense	possibly damaging	0.75
R4082:Crocc	UTSW	4	141033971	splice site	probably null
R4454:Crocc	UTSW	4	141020405	missense	possibly damaging	0.52
R4591:Crocc	UTSW	4	141018672	missense	probably damaging	1.00
R4597:Crocc	UTSW	4	141019777	missense	probably damaging	1.00
R4984:Crocc	UTSW	4	141034452	missense	probably damaging	1.00
R4992:Crocc	UTSW	4	141046666	missense	probably damaging	0.98
R5109:Crocc	UTSW	4	141028411	missense	probably damaging	1.00
R5143:Crocc	UTSW	4	141041039	missense	probably benign	0.01
R5381:Crocc	UTSW	4	141029311	missense	possibly damaging	0.95
R5684:Crocc	UTSW	4	141051144	missense	probably damaging	0.99
R5757:Crocc	UTSW	4	141043564	missense	probably damaging	1.00
R5795:Crocc	UTSW	4	141041807	frame shift	probably null
R5796:Crocc	UTSW	4	141041807	frame shift	probably null
R5798:Crocc	UTSW	4	141041807	frame shift	probably null
R5815:Crocc	UTSW	4	141035196	missense	probably damaging	0.99
R5955:Crocc	UTSW	4	141017918	missense	possibly damaging	0.75
R6031:Crocc	UTSW	4	141034357	critical splice donor site	probably null
R6063:Crocc	UTSW	4	141041721	missense	probably benign	0.08
R6063:Crocc	UTSW	4	141046540	missense	probably damaging	1.00
R7086:Crocc	UTSW	4	141047057	missense	possibly damaging	0.47
R7282:Crocc	UTSW	4	141022341	missense	probably damaging	1.00
R7293:Crocc	UTSW	4	141043556	missense	probably benign	0.17
R7404:Crocc	UTSW	4	141026186	missense	possibly damaging	0.46
R7571:Crocc	UTSW	4	141046049	critical splice acceptor site	probably null
R7646:Crocc	UTSW	4	141021655	missense	probably null	0.94
R7782:Crocc	UTSW	4	141025286	missense	probably benign	0.05
R8053:Crocc	UTSW	4	141042919	critical splice donor site	probably null
R8762:Crocc	UTSW	4	141034058	missense	possibly damaging	0.78
R9021:Crocc	UTSW	4	141022363	missense	probably benign	0.00
R9188:Crocc	UTSW	4	141019840	missense	probably benign	0.04
R9272:Crocc	UTSW	4	141019821	missense	probably benign	0.00
R9411:Crocc	UTSW	4	141022266	critical splice donor site	probably null
R9647:Crocc	UTSW	4	141047024	missense	probably benign	0.00
R9667:Crocc	UTSW	4	141021677	missense	probably damaging	1.00
R9706:Crocc	UTSW	4	141018735	missense	possibly damaging	0.76
R9780:Crocc	UTSW	4	141029245	missense	probably benign	0.01
X0065:Crocc	UTSW	4	141041792	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- AATTCCTGACTGACAGCCCCATTG -3'
(R):5'- AGAGCTGAGAGGCATGGTTCACAC -3'

Sequencing Primer
(F):5'- GGCCAACTCTCAGGTCCC -3'
(R):5'- ACTCTGTGGACATCACAGTG -3'

Posted On

2014-04-13