Mutagenetix > Incidental Mutations

Incidental Mutation 'R3417:Crocc'

266838

Institutional Source

Beutler Lab

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

MMRRC Submission

040635-MU

Accession Numbers

Genbank: NM_172122;MGI: 3529431

Is this an essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R3417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141016637-141060550 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141046447 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 103 (T103I)

Ref Sequence

ENSEMBL: ENSMUSP00000126543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040222] [ENSMUST00000097816] [ENSMUST00000102491] [ENSMUST00000144196] [ENSMUST00000168157]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040222
AA Change: T103I

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: T103I

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

possibly damaging
Transcript: ENSMUST00000097816
AA Change: T103I

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: T103I

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

possibly damaging
Transcript: ENSMUST00000102491
AA Change: T267I

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: T267I

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: ENSMUST00000126863

Predicted Effect

probably benign
Transcript: ENSMUST00000144196

SMART Domains

Protein: ENSMUSP00000120555
Gene: ENSMUSG00000040860

Domain	Start	End	E-Value	Type
coiled coil region	1	42	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168157
AA Change: T103I

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: T103I

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

Meta Mutation Damage Score

0.0945

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (54/55)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	A	C	16: 38,828,740	D2E	probably benign	Het
Abcc5	A	G	16: 20,405,552		probably benign	Het
Adgrl2	T	C	3: 148,859,329	Y201C	probably damaging	Het
Ankar	A	G	1: 72,658,976		probably null	Het
Ankrd17	G	A	5: 90,243,913	T1857I	possibly damaging	Het
Atp6v0d2	A	G	4: 19,888,829		probably benign	Het
Cep170	G	T	1: 176,756,044	P923Q	probably damaging	Het
Cfc1	A	T	1: 34,536,376	R44*	probably null	Het
Col6a1	C	T	10: 76,712,369	V618M	unknown	Het
Crmp1	A	T	5: 37,268,687	I159L	possibly damaging	Het
Cyp4f39	T	C	17: 32,489,742	V421A	possibly damaging	Het
Ero1l	T	C	14: 45,287,866	T401A	possibly damaging	Het
Exoc6b	C	G	6: 84,890,565	L288F	possibly damaging	Het
Fsip2	G	A	2: 82,986,510	V4196I	possibly damaging	Het
Gm884	A	T	11: 103,614,609	S2178T	possibly damaging	Het
Icosl	A	T	10: 78,072,035	N143I	possibly damaging	Het
Igsf9b	G	A	9: 27,309,478	V47I	possibly damaging	Het
Jrk	A	G	15: 74,706,885	Y184H	probably damaging	Het
Kdm5b	T	C	1: 134,587,977	L113P	probably damaging	Het
Klhl42	G	A	6: 147,107,880	V406M	probably damaging	Het
Lrp12	A	G	15: 39,878,282	F365L	probably damaging	Het
Map4k5	A	T	12: 69,809,264	V716E	probably damaging	Het
Mcm9	T	C	10: 53,537,407	T1264A	possibly damaging	Het
Mia3	T	A	1: 183,362,100	D100V	probably damaging	Het
Mrgprb2	C	A	7: 48,552,533	R148L	probably damaging	Het
Mrvi1	T	C	7: 110,876,954	T597A	possibly damaging	Het
Mterf1a	A	G	5: 3,890,795	S358P	probably damaging	Het
Myd88	T	C	9: 119,337,490	I253V	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nqo2	G	T	13: 33,979,633	V92L	probably benign	Het
Olfr730	T	A	14: 50,186,612	T202S	possibly damaging	Het
Pcdhb15	A	T	18: 37,475,163	N483Y	probably damaging	Het
Pds5a	A	G	5: 65,637,892	F667S	probably damaging	Het
Plxnb1	C	A	9: 109,100,760	A228E	probably damaging	Het
Prpsap1	T	C	11: 116,478,584	S179G	probably benign	Het
Rtl4	C	T	X: 145,119,905	Q108*	probably null	Het
Scn8a	A	G	15: 100,971,668		probably benign	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Slc44a1	G	A	4: 53,553,549	V519I	probably benign	Het
Smg1	G	C	7: 118,148,853		probably benign	Het
Sptlc2	A	G	12: 87,346,808		probably benign	Het
St13	A	T	15: 81,369,450		probably benign	Het
Strbp	C	G	2: 37,590,725	R610T	possibly damaging	Het
Tas2r124	A	T	6: 132,755,638	R303S	probably benign	Het
Tgm3	G	A	2: 130,047,772	V629M	possibly damaging	Het
Tnr	T	C	1: 159,895,042	V1019A	probably benign	Het
Ttn	A	T	2: 76,785,564	C14932*	probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	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
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
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
X0065:Crocc	UTSW	4	141041792	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- TGGAAGAAATGGCCAGTCTG -3'
(R):5'- TACTGAACTGGAGCAGCAGC -3'

Sequencing Primer
(F):5'- TTGACTGAACCCCTGCAA -3'
(R):5'- TCTTCTGCGCCTAGAGGAG -3'

Posted On

2015-02-18