Mutagenetix > Incidental Mutations

Incidental Mutation 'R1561:Crocc'

170593

Institutional Source

Beutler Lab

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

MMRRC Submission

039600-MU

Accession Numbers

Genbank: NM_172122;MGI: 3529431

Is this an essential gene?

Possibly non essential (E-score: 0.489) question?

Stock #

R1561 (G1)

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

141016637-141060550 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141030268 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 905 (E905K)

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: E905K

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

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: E905K

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: E905K

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

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: E905K

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: E1069K

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

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: E1069K

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: E905K

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

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: E905K

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,877,431	N69D	probably benign	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Ap1g2	T	C	14: 55,104,887	E171G	probably damaging	Het
Atg7	T	C	6: 114,701,172	V341A	possibly damaging	Het
Bace1	G	T	9: 45,839,194	R56L	probably benign	Het
Chfr	A	T	5: 110,158,808	D472V	probably benign	Het
Ckap2l	G	A	2: 129,270,725	T621I	probably benign	Het
Cmip	A	G	8: 117,453,850	T554A	probably benign	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
F5	C	A	1: 164,186,903	S581*	probably null	Het
Fam227a	T	A	15: 79,636,762	Y291F	possibly damaging	Het
Gm609	A	G	16: 45,442,512	V88A	possibly damaging	Het
Gpr151	A	T	18: 42,579,156	S152R	probably benign	Het
Gpr158	A	T	2: 21,815,694		probably null	Het
Kcna5	T	C	6: 126,534,583	Y194C	probably damaging	Het
Khsrp	A	G	17: 57,025,639	S214P	probably benign	Het
Mrgprb1	C	G	7: 48,447,125		probably null	Het
Mrnip	C	T	11: 50,176,849	T30I	probably damaging	Het
Mtus2	A	C	5: 148,076,552	K52Q	probably benign	Het
Naca	G	T	10: 128,040,398		probably benign	Het
Obscn	T	G	11: 59,036,073	T5539P	probably damaging	Het
Olfr1154	C	T	2: 87,903,161	V172I	probably benign	Het
Olfr1341	T	A	4: 118,709,554	I49N	probably damaging	Het
Ovca2	A	G	11: 75,177,979	L198P	probably damaging	Het
Pdzrn4	T	C	15: 92,677,637	V308A	possibly damaging	Het
Pkd1l3	A	G	8: 109,614,813	I99M	unknown	Het
Polr3b	T	A	10: 84,634,912	M139K	probably damaging	Het
Prkag2	T	C	5: 24,871,595	Y191C	probably damaging	Het
Prss47	A	T	13: 65,046,248	C278S	probably damaging	Het
Ptprm	T	C	17: 66,940,541	T600A	probably damaging	Het
Ruvbl1	T	C	6: 88,479,154	V70A	probably damaging	Het
Sf3a1	T	C	11: 4,179,217	V726A	probably benign	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc26a3	A	G	12: 31,466,452	N603S	probably benign	Het
Slc2a1	A	G	4: 119,136,409	E481G	possibly damaging	Het
Slc35a5	A	C	16: 45,151,521	S127A	possibly damaging	Het
Spen	C	A	4: 141,472,383	G2978*	probably null	Het
Srrt	T	A	5: 137,300,019	E297V	probably benign	Het
Srsf4	T	A	4: 131,897,695	D134E	probably damaging	Het
Tdrd6	G	A	17: 43,625,624	S1511L	probably damaging	Het
Tmem65	T	A	15: 58,822,858	I91F	probably benign	Het
Top2b	A	G	14: 16,398,993	K538E	possibly damaging	Het
Trappc8	G	A	18: 20,841,623	R883*	probably null	Het
Ttc28	G	A	5: 111,225,677	S962N	probably damaging	Het
Vav3	T	C	3: 109,494,838		probably null	Het
Vmn1r42	C	T	6: 89,845,381	G69S	probably damaging	Het
Zan	A	T	5: 137,380,838	Y5333*	probably null	Het
Zfp994	A	C	17: 22,201,225	F248V	probably damaging	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
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	unknown
X0065:Crocc	UTSW	4	141041792	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- AGTAGTCTCACCAAGGTGGAGCTG -3'
(R):5'- GGCACTTGCTGATCCTTCCAAATTG -3'

Sequencing Primer
(F):5'- AAGGGCTGGACCTTCCAC -3'
(R):5'- ccaggggggaagttgaag -3'

Posted On

2014-04-13