Mutagenetix > Incidental Mutation

Incidental Mutation 'R2913:Crocc'

254739

Institutional Source

Beutler Lab

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

MMRRC Submission

040500-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R2913 (G1)

Quality Score

110

Status

Validated

Chromosome

Chromosomal Location

140743948-140787861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140747661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1496 (R1496H)

Ref Sequence

ENSEMBL: ENSMUSP00000126543 (fasta)

Gene Model

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

AlphaFold

Q8CJ40

Predicted Effect

probably damaging
Transcript: ENSMUST00000040222
AA Change: R1496H

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

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: R1496H

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 damaging
Transcript: ENSMUST00000097816
AA Change: R1496H

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

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: R1496H

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: R1660H

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

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: R1660H

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: ENSMUST00000126973

Predicted Effect

probably damaging
Transcript: ENSMUST00000168157
AA Change: R1496H

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

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: R1496H

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

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

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (58/58)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,934,887 (GRCm39)	Q357R	probably damaging	Het
Adap1	C	T	5: 139,260,576 (GRCm39)		probably null	Het
Adgrf3	A	G	5: 30,401,992 (GRCm39)	S679P	probably damaging	Het
Aldh3b1	T	C	19: 3,971,275 (GRCm39)		probably benign	Het
Arih2	A	G	9: 108,521,275 (GRCm39)	S68P	probably damaging	Het
Cdcp3	T	C	7: 130,783,753 (GRCm39)	S49P	possibly damaging	Het
Col1a2	C	T	6: 4,519,923 (GRCm39)		probably benign	Het
Cplane1	T	C	15: 8,300,169 (GRCm39)	S3159P	unknown	Het
Cryl1	T	C	14: 57,513,375 (GRCm39)	E282G	probably benign	Het
Cyp11b1	T	C	15: 74,708,270 (GRCm39)	T402A	probably damaging	Het
Etfa	C	A	9: 55,389,613 (GRCm39)	A254S	probably damaging	Het
Fcgbpl1	A	T	7: 27,863,732 (GRCm39)	L2501F	probably damaging	Het
Fdxacb1	C	T	9: 50,679,699 (GRCm39)	A39V	probably benign	Het
Fras1	G	A	5: 96,881,774 (GRCm39)	R2502K	probably benign	Het
Gpr157	G	A	4: 150,183,222 (GRCm39)	V131I	probably benign	Het
Hbb-bh1	C	T	7: 103,492,254 (GRCm39)	E22K	possibly damaging	Het
Hmcn2	A	G	2: 31,350,222 (GRCm39)	T5040A	possibly damaging	Het
Hprt1	T	C	X: 52,109,016 (GRCm39)	Y174H	probably damaging	Het
Igsf10	T	A	3: 59,239,157 (GRCm39)	L341F	possibly damaging	Het
Ints1	A	G	5: 139,743,668 (GRCm39)	S1592P	possibly damaging	Het
Itgam	T	C	7: 127,711,578 (GRCm39)	I641T	probably damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Mapk3	T	A	7: 126,359,978 (GRCm39)	C19*	probably null	Het
Mapk4	C	T	18: 74,068,236 (GRCm39)	A232T	probably benign	Het
Med26	T	G	8: 73,249,956 (GRCm39)	K381T	possibly damaging	Het
Mki67	T	C	7: 135,302,415 (GRCm39)	E873G	possibly damaging	Het
Mrgpra9	T	C	7: 46,884,828 (GRCm39)	I280V	probably benign	Het
Mroh9	T	C	1: 162,871,572 (GRCm39)	Y637C	probably damaging	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Or4c11	A	T	2: 88,695,458 (GRCm39)	N170Y	probably benign	Het
Or5j3	A	G	2: 86,128,733 (GRCm39)	D191G	probably damaging	Het
Pam	A	C	1: 97,850,854 (GRCm39)	L168R	probably damaging	Het
Pikfyve	G	A	1: 65,292,676 (GRCm39)	V1376M	probably damaging	Het
Pomt2	A	T	12: 87,175,743 (GRCm39)	N400K	probably damaging	Het
Pramel13	T	C	4: 144,119,304 (GRCm39)	E421G	probably damaging	Het
Rbm45	C	T	2: 76,205,798 (GRCm39)	P217S	probably benign	Het
Rc3h2	A	G	2: 37,268,971 (GRCm39)	S832P	possibly damaging	Het
Ric3	A	G	7: 108,653,660 (GRCm39)	F144L	possibly damaging	Het
Rrh	G	T	3: 129,609,258 (GRCm39)	A83E	probably damaging	Het
Rspo2	T	A	15: 42,941,510 (GRCm39)	T138S	probably benign	Het
Skint5	A	G	4: 113,381,289 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Spata31d1d	T	C	13: 59,874,769 (GRCm39)	E922G	possibly damaging	Het
Spc25	T	C	2: 69,030,331 (GRCm39)	H104R	probably benign	Het
Sptssa	A	T	12: 54,703,267 (GRCm39)	M1K	probably null	Het
Srrm2	G	T	17: 24,034,658 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Tmem181c-ps	A	G	17: 6,888,608 (GRCm39)		noncoding transcript	Het
Tmprss15	T	C	16: 78,759,078 (GRCm39)	N880S	probably benign	Het
Trio	T	A	15: 27,854,998 (GRCm39)	Q728L	probably damaging	Het
Txk	T	C	5: 72,881,794 (GRCm39)	N154S	probably damaging	Het
Vwf	T	A	6: 125,662,809 (GRCm39)	V2731E	probably benign	Het
Yes1	T	C	5: 32,797,926 (GRCm39)	S82P	probably benign	Het
Zgrf1	T	C	3: 127,392,356 (GRCm39)	V1292A	possibly damaging	Het

Other mutations in Crocc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Crocc	APN	4	140,749,423 (GRCm39)	missense	probably damaging	1.00
IGL01474:Crocc	APN	4	140,762,703 (GRCm39)	splice site	probably benign
IGL01859:Crocc	APN	4	140,756,601 (GRCm39)	missense	probably benign	0.07
IGL02161:Crocc	APN	4	140,761,302 (GRCm39)	missense	probably benign	0.01
IGL02244:Crocc	APN	4	140,765,231 (GRCm39)	missense	probably benign	0.00
IGL02970:Crocc	APN	4	140,757,557 (GRCm39)	missense	possibly damaging	0.49
N/A:Crocc	UTSW	4	140,749,057 (GRCm39)	missense	probably damaging	1.00
R0158:Crocc	UTSW	4	140,769,553 (GRCm39)	splice site	probably benign
R0280:Crocc	UTSW	4	140,755,737 (GRCm39)	missense	probably damaging	1.00
R0448:Crocc	UTSW	4	140,769,502 (GRCm39)	missense	probably damaging	1.00
R0532:Crocc	UTSW	4	140,757,558 (GRCm39)	missense	possibly damaging	0.95
R0597:Crocc	UTSW	4	140,744,382 (GRCm39)	missense	probably benign
R0597:Crocc	UTSW	4	140,747,224 (GRCm39)	missense	probably benign	0.06
R0761:Crocc	UTSW	4	140,774,387 (GRCm39)	missense	probably benign	0.01
R0761:Crocc	UTSW	4	140,757,087 (GRCm39)	missense	probably benign	0.00
R1238:Crocc	UTSW	4	140,762,675 (GRCm39)	missense	probably benign	0.00
R1460:Crocc	UTSW	4	140,756,551 (GRCm39)	nonsense	probably null
R1515:Crocc	UTSW	4	140,747,048 (GRCm39)	missense	probably benign	0.00
R1557:Crocc	UTSW	4	140,752,776 (GRCm39)	missense	probably damaging	0.96
R1561:Crocc	UTSW	4	140,757,579 (GRCm39)	missense	probably damaging	1.00
R1641:Crocc	UTSW	4	140,744,388 (GRCm39)	missense	probably benign	0.00
R1709:Crocc	UTSW	4	140,753,410 (GRCm39)	critical splice donor site	probably null
R1785:Crocc	UTSW	4	140,749,113 (GRCm39)	missense	probably damaging	0.99
R1786:Crocc	UTSW	4	140,749,113 (GRCm39)	missense	probably damaging	0.99
R1793:Crocc	UTSW	4	140,746,620 (GRCm39)	missense	probably damaging	1.00
R1897:Crocc	UTSW	4	140,746,047 (GRCm39)	missense	probably damaging	1.00
R1935:Crocc	UTSW	4	140,761,369 (GRCm39)	missense	possibly damaging	0.78
R2037:Crocc	UTSW	4	140,774,253 (GRCm39)	critical splice donor site	probably null
R2127:Crocc	UTSW	4	140,744,407 (GRCm39)	missense	probably damaging	1.00
R2129:Crocc	UTSW	4	140,744,407 (GRCm39)	missense	probably damaging	1.00
R2130:Crocc	UTSW	4	140,756,413 (GRCm39)	missense	probably benign	0.04
R2136:Crocc	UTSW	4	140,760,265 (GRCm39)	missense	probably damaging	1.00
R2298:Crocc	UTSW	4	140,752,770 (GRCm39)	missense	probably benign	0.30
R2847:Crocc	UTSW	4	140,746,067 (GRCm39)	missense	probably damaging	0.97
R2848:Crocc	UTSW	4	140,746,067 (GRCm39)	missense	probably damaging	0.97
R3415:Crocc	UTSW	4	140,773,758 (GRCm39)	missense	possibly damaging	0.75
R3416:Crocc	UTSW	4	140,773,758 (GRCm39)	missense	possibly damaging	0.75
R3417:Crocc	UTSW	4	140,773,758 (GRCm39)	missense	possibly damaging	0.75
R4082:Crocc	UTSW	4	140,761,282 (GRCm39)	splice site	probably null
R4454:Crocc	UTSW	4	140,747,716 (GRCm39)	missense	possibly damaging	0.52
R4591:Crocc	UTSW	4	140,745,983 (GRCm39)	missense	probably damaging	1.00
R4597:Crocc	UTSW	4	140,747,088 (GRCm39)	missense	probably damaging	1.00
R4984:Crocc	UTSW	4	140,761,763 (GRCm39)	missense	probably damaging	1.00
R4992:Crocc	UTSW	4	140,773,977 (GRCm39)	missense	probably damaging	0.98
R5109:Crocc	UTSW	4	140,755,722 (GRCm39)	missense	probably damaging	1.00
R5143:Crocc	UTSW	4	140,768,350 (GRCm39)	missense	probably benign	0.01
R5381:Crocc	UTSW	4	140,756,622 (GRCm39)	missense	possibly damaging	0.95
R5684:Crocc	UTSW	4	140,778,455 (GRCm39)	missense	probably damaging	0.99
R5757:Crocc	UTSW	4	140,770,875 (GRCm39)	missense	probably damaging	1.00
R5795:Crocc	UTSW	4	140,769,118 (GRCm39)	frame shift	probably null
R5796:Crocc	UTSW	4	140,769,118 (GRCm39)	frame shift	probably null
R5798:Crocc	UTSW	4	140,769,118 (GRCm39)	frame shift	probably null
R5815:Crocc	UTSW	4	140,762,507 (GRCm39)	missense	probably damaging	0.99
R5955:Crocc	UTSW	4	140,745,229 (GRCm39)	missense	possibly damaging	0.75
R6031:Crocc	UTSW	4	140,761,668 (GRCm39)	critical splice donor site	probably null
R6063:Crocc	UTSW	4	140,773,851 (GRCm39)	missense	probably damaging	1.00
R6063:Crocc	UTSW	4	140,769,032 (GRCm39)	missense	probably benign	0.08
R7086:Crocc	UTSW	4	140,774,368 (GRCm39)	missense	possibly damaging	0.47
R7282:Crocc	UTSW	4	140,749,652 (GRCm39)	missense	probably damaging	1.00
R7293:Crocc	UTSW	4	140,770,867 (GRCm39)	missense	probably benign	0.17
R7404:Crocc	UTSW	4	140,753,497 (GRCm39)	missense	possibly damaging	0.46
R7571:Crocc	UTSW	4	140,773,360 (GRCm39)	critical splice acceptor site	probably null
R7646:Crocc	UTSW	4	140,748,966 (GRCm39)	missense	probably null	0.94
R7782:Crocc	UTSW	4	140,752,597 (GRCm39)	missense	probably benign	0.05
R8053:Crocc	UTSW	4	140,770,230 (GRCm39)	critical splice donor site	probably null
R8762:Crocc	UTSW	4	140,761,369 (GRCm39)	missense	possibly damaging	0.78
R9021:Crocc	UTSW	4	140,749,674 (GRCm39)	missense	probably benign	0.00
R9188:Crocc	UTSW	4	140,747,151 (GRCm39)	missense	probably benign	0.04
R9272:Crocc	UTSW	4	140,747,132 (GRCm39)	missense	probably benign	0.00
R9411:Crocc	UTSW	4	140,749,577 (GRCm39)	critical splice donor site	probably null
R9647:Crocc	UTSW	4	140,774,335 (GRCm39)	missense	probably benign	0.00
R9667:Crocc	UTSW	4	140,748,988 (GRCm39)	missense	probably damaging	1.00
R9706:Crocc	UTSW	4	140,746,046 (GRCm39)	missense	possibly damaging	0.76
R9780:Crocc	UTSW	4	140,756,556 (GRCm39)	missense	probably benign	0.01
X0065:Crocc	UTSW	4	140,769,103 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- TGAGGTGAAAAGCCGTCCTC -3'
(R):5'- AACCCTGCTTTGTCCCAGTG -3'

Sequencing Primer
(F):5'- TCCTCACGGACTTGGGAG -3'
(R):5'- TGTCCCAGTGGTGCAGAG -3'

Posted On

2014-12-29