Mutagenetix > Incidental Mutations

Incidental Mutation 'R2136:Crocc'

235795

Institutional Source

Beutler Lab

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

MMRRC Submission

040139-MU

Accession Numbers

Genbank: NM_172122;MGI: 3529431

Is this an essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R2136 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

141016637-141060550 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141032954 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 789 (R789W)

Ref Sequence

ENSEMBL: ENSMUSP00000126543 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040222
AA Change: R789W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: R789W

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 damaging
Transcript: ENSMUST00000097816
AA Change: R789W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: R789W

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 damaging
Transcript: ENSMUST00000102491
AA Change: R953W

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

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: R953W

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: ENSMUST00000151455

Predicted Effect

probably damaging
Transcript: ENSMUST00000168157
AA Change: R789W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: R789W

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: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	A	G	6: 41,035,462	F6S	probably benign	Het
2810474O19Rik	T	A	6: 149,328,822	I1122K	probably benign	Het
A930003A15Rik	T	G	16: 19,883,780		noncoding transcript	Het
Abca5	T	C	11: 110,319,832	T174A	probably benign	Het
Abcg3	G	A	5: 104,966,814	S279L	probably benign	Het
Acap3	T	C	4: 155,896,912	L85P	probably damaging	Het
Adgrl3	A	G	5: 81,512,254	K290R	probably damaging	Het
Ankhd1	A	G	18: 36,647,621	T1909A	probably benign	Het
Asap1	T	C	15: 64,110,959	D832G	probably damaging	Het
Atp6v0a2	T	A	5: 124,718,488	L702Q	possibly damaging	Het
Bsn	A	G	9: 108,113,231	V1774A	probably damaging	Het
Cd209e	T	C	8: 3,853,248	E48G	probably benign	Het
Cdadc1	T	C	14: 59,568,044		probably null	Het
Cfap65	C	CA	1: 74,917,273		probably null	Het
Cln3	A	C	7: 126,582,799	S30R	probably benign	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Crb1	A	T	1: 139,337,425	V85E	probably benign	Het
Cwh43	A	G	5: 73,415,054	I212V	probably benign	Het
Cyp2t4	C	A	7: 27,158,160	F391L	probably benign	Het
Dhx35	G	T	2: 158,831,861	R404L	probably damaging	Het
Disp1	A	G	1: 183,088,378	L826S	probably damaging	Het
Dync2h1	T	A	9: 7,122,772	E2061D	probably damaging	Het
Ep300	T	A	15: 81,640,447	Y1393N	unknown	Het
Fap	C	T	2: 62,524,207	G446D	possibly damaging	Het
Fat3	A	G	9: 16,377,051	I392T	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Glipr1l1	T	C	10: 112,060,476	V56A	probably damaging	Het
Grsf1	A	G	5: 88,672,658	V7A	probably benign	Het
Hmcn1	G	A	1: 150,633,659	A3646V	probably damaging	Het
Ipo9	A	T	1: 135,394,285	I569N	probably damaging	Het
Irs1	G	T	1: 82,290,042	P151Q	probably damaging	Het
Kalrn	T	C	16: 34,307,724	D491G	possibly damaging	Het
Kctd7	T	C	5: 130,152,366	L210P	probably damaging	Het
Lifr	C	A	15: 7,181,857	D625E	possibly damaging	Het
Lrguk	T	C	6: 34,043,519	V201A	probably benign	Het
Mark1	A	G	1: 184,919,573	V135A	probably damaging	Het
Mical2	T	A	7: 112,271,515	D70E	possibly damaging	Het
Mrc1	T	C	2: 14,270,189	Y434H	probably damaging	Het
Myh10	C	A	11: 68,804,714	Q1556K	probably damaging	Het
Nav1	G	A	1: 135,454,436	T1400I	probably null	Het
Olfr1173	T	C	2: 88,274,240	K270E	probably damaging	Het
Olfr1178	T	A	2: 88,391,319	I24N	probably benign	Het
Olfr1289	T	C	2: 111,483,616	V62A	probably damaging	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr142	A	C	2: 90,252,253	V245G	probably damaging	Het
Olfr339	A	G	2: 36,421,938	D180G	probably damaging	Het
Olfr513	G	A	7: 108,755,223	M122I	possibly damaging	Het
Osmr	T	A	15: 6,852,462	Q67L	probably damaging	Het
Pan2	T	G	10: 128,313,637	V522G	possibly damaging	Het
Pard3	T	G	8: 127,376,885		probably null	Het
Pcdhgc5	G	T	18: 37,820,113	A147S	possibly damaging	Het
Pcsk9	T	C	4: 106,446,770	I506V	probably benign	Het
Polr3d	GCCCCC	GCCCC	14: 70,443,047		probably null	Het
Prdm4	G	A	10: 85,893,351	R731*	probably null	Het
Prdx6b	T	A	2: 80,293,163	D105E	probably damaging	Het
Rab42	A	G	4: 132,302,479	L144P	probably damaging	Het
Ralbp1	T	A	17: 65,864,666	K104M	probably damaging	Het
Rrp12	A	G	19: 41,892,599	V131A	probably damaging	Het
Sbno1	C	T	5: 124,387,534		probably null	Het
Sbno2	A	T	10: 80,062,693	I645N	probably damaging	Het
Scfd2	T	C	5: 74,206,367	K624R	probably benign	Het
Sgk2	C	A	2: 162,999,179		probably null	Het
Sirt4	A	G	5: 115,479,701	S299P	probably benign	Het
Slit2	C	T	5: 48,304,225	A1521V	probably benign	Het
Socs7	T	G	11: 97,373,107	V275G	possibly damaging	Het
Spink11	G	A	18: 44,190,487	P102S	probably benign	Het
Tacc3	A	G	5: 33,671,404	N534D	probably damaging	Het
Tas2r115	T	C	6: 132,737,346	Y214C	probably damaging	Het
Tcaf1	A	T	6: 42,673,520	M875K	probably benign	Het
Ttc22	T	A	4: 106,622,672	L41Q	possibly damaging	Het
Ttc37	T	C	13: 76,173,354	S1322P	possibly damaging	Het
Vasn	T	A	16: 4,649,795	C535*	probably null	Het
Vcan	T	A	13: 89,689,737	I2563F	probably damaging	Het
Vmn2r63	T	G	7: 42,926,873	Q505H	probably damaging	Het
Vmn2r65	T	G	7: 84,943,573	Q475H	probably damaging	Het
Zbtb43	T	C	2: 33,454,520	Y231C	probably damaging	Het
Zfp292	A	G	4: 34,810,266	V931A	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
R1515:Crocc	UTSW	4	141019737	missense	probably benign	0.00
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
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
X0065:Crocc	UTSW	4	141041792	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- ATGGCAGGCATCTGTTTCAC -3'
(R):5'- AGCGTGTCAGTGACAGAGAC -3'

Sequencing Primer
(F):5'- TGTTTCACAGATATGGAAACTGAGGC -3'
(R):5'- TCTGTCCCCTGTCCATGAGGAG -3'

Posted On

2014-10-01