Mutagenetix > Incidental Mutations

Incidental Mutation 'R5143:Crocc'

396514

Institutional Source

Beutler Lab

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

Accession Numbers

Genbank: NM_172122;MGI: 3529431

Is this an essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

R5143 (G1)

Quality Score

130

Status

Not validated

Chromosome

Chromosomal Location

141016637-141060550 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141041039 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 414 (T414S)

Ref Sequence

ENSEMBL: ENSMUSP00000126543 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040222
AA Change: T414S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: T414S

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: ENSMUST00000097816
AA Change: T414S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: T414S

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: T578S

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

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: T578S

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: ENSMUST00000168157
AA Change: T414S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: T414S

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: 98.7%
10x: 97.4%
20x: 95.5%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,739,198		probably null	Het
Abcc2	T	C	19: 43,821,661	I886T	probably benign	Het
Adrb2	T	C	18: 62,178,776	Y326C	probably damaging	Het
AF366264	A	G	8: 13,836,844	S416P	possibly damaging	Het
Aplp1	G	A	7: 30,441,123	R334C	probably damaging	Het
AY358078	T	C	14: 51,802,549	S39P	unknown	Het
Bpifb2	A	T	2: 153,878,504	D61V	probably damaging	Het
Caap1	A	T	4: 94,501,382	N238K	probably damaging	Het
Cfap54	A	G	10: 93,029,158	V726A	possibly damaging	Het
Chrna7	T	C	7: 63,106,147	Y217C	probably damaging	Het
Cyp2a12	A	G	7: 27,036,611	I482V	probably benign	Het
Dnah6	A	T	6: 73,181,761	F620I	possibly damaging	Het
Eogt	A	G	6: 97,125,584	L256P	probably damaging	Het
F5	A	G	1: 164,211,828	I2002M	probably damaging	Het
Foxp1	A	G	6: 98,945,532		probably null	Het
Fut8	A	G	12: 77,365,209	D111G	probably benign	Het
Gm17689	T	A	9: 36,581,904	N41Y	probably benign	Het
Golgb1	C	T	16: 36,898,689	A319V	probably benign	Het
Hoxd3	C	T	2: 74,746,372	R39C	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Olfr690	T	A	7: 105,329,524	I223F	probably damaging	Het
Pcdhb2	A	G	18: 37,296,732	Y586C	probably damaging	Het
Plcd1	G	A	9: 119,074,451	Q442*	probably null	Het
Plppr5	A	G	3: 117,625,903	T207A	probably benign	Het
Pomt1	C	A	2: 32,254,329	A709E	probably benign	Het
Prmt8	A	G	6: 127,732,714	M61T	probably benign	Het
Ptpn23	A	G	9: 110,385,438		probably benign	Het
Sbf2	T	A	7: 110,422,540	K493*	probably null	Het
Tmc2	A	T	2: 130,234,818	S355C	probably damaging	Het
Tonsl	A	G	15: 76,636,657	S399P	possibly damaging	Het
Ttc14	T	C	3: 33,808,901		probably benign	Het
Ttn	A	G	2: 76,738,065	S19168P	probably damaging	Het
Usp17lb	A	T	7: 104,841,478	S80T	probably damaging	Het
Vmn2r96	A	G	17: 18,583,858	I457V	possibly damaging	Het
Wdr64	G	T	1: 175,726,413	D170Y	probably damaging	Het
Zbtb42	T	C	12: 112,679,514	V41A	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
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
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'- ACCAGCAGGAAACAGTTCAG -3'
(R):5'- GAAGAGAGTGAGTGGGCTTCTC -3'

Sequencing Primer
(F):5'- ATGGTCTATAGCCACACGTG -3'
(R):5'- AGAGAGTGAGTGGGCTTCTCTAGAC -3'

Posted On

2016-06-21