Mutagenetix > Incidental Mutation

Incidental Mutation 'R5815:Crocc'

448988

Institutional Source

Beutler Lab

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R5815 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

140743948-140787861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140762507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 661 (V661E)

Ref Sequence

ENSEMBL: ENSMUSP00000126543 (fasta)

Gene Model

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

AlphaFold

Q8CJ40

Predicted Effect

probably damaging
Transcript: ENSMUST00000040222
AA Change: V661E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: V661E

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: V661E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: V661E

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: V825E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: V825E

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

probably damaging
Transcript: ENSMUST00000168157
AA Change: V661E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: V661E

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: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	A	G	11: 117,726,530 (GRCm39)	D226G	probably benign	Het
Ago2	T	C	15: 72,979,215 (GRCm39)		probably null	Het
Aldh1a1	C	A	19: 20,608,034 (GRCm39)	D285E	probably benign	Het
Alms1	T	C	6: 85,599,820 (GRCm39)	S1549P	probably damaging	Het
Apmap	T	C	2: 150,442,171 (GRCm39)	S68G	probably benign	Het
Atp8a1	A	T	5: 67,906,414 (GRCm39)	I500N	probably benign	Het
B3gnt7	A	C	1: 86,233,510 (GRCm39)	D135A	probably benign	Het
Bms1	A	T	6: 118,381,240 (GRCm39)	L692H	probably damaging	Het
Cdk17	T	A	10: 93,064,559 (GRCm39)	V276E	probably damaging	Het
Cep290	A	T	10: 100,393,970 (GRCm39)	E2059V	possibly damaging	Het
Cpxm2	C	A	7: 131,645,839 (GRCm39)	G693V	probably damaging	Het
D1Pas1	A	T	1: 186,700,206 (GRCm39)	N45I	probably damaging	Het
Ddx19a	C	T	8: 111,705,781 (GRCm39)	W223*	probably null	Het
Ddx60	C	A	8: 62,416,756 (GRCm39)	S567Y	probably damaging	Het
Dhx36	A	T	3: 62,401,176 (GRCm39)	N363K	probably damaging	Het
Gm57859	C	A	11: 113,578,783 (GRCm39)		probably null	Het
Gpr151	G	A	18: 42,712,450 (GRCm39)	T76M	probably benign	Het
Inhbc	C	T	10: 127,193,318 (GRCm39)	V233I	probably benign	Het
Ippk	C	T	13: 49,599,839 (GRCm39)	L233F	probably damaging	Het
Lama2	A	G	10: 26,862,847 (GRCm39)	V2972A	probably damaging	Het
Lrrc37a	T	C	11: 103,394,612 (GRCm39)	Q271R	probably benign	Het
Mia2	A	T	12: 59,220,892 (GRCm39)	K1083N	possibly damaging	Het
Mphosph9	A	C	5: 124,453,481 (GRCm39)	L277R	probably damaging	Het
Myo7b	A	T	18: 32,099,341 (GRCm39)	F1694I	probably damaging	Het
Obscn	T	C	11: 58,973,015 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2w6	T	C	13: 21,842,707 (GRCm39)	Y262C	probably damaging	Het
Pcdh10	A	G	3: 45,347,156 (GRCm39)	T984A	probably benign	Het
Pcdh20	T	C	14: 88,708,312 (GRCm39)	S39G	probably benign	Het
Pdia3	T	A	2: 121,266,892 (GRCm39)	Y467*	probably null	Het
Ptpn13	C	A	5: 103,745,556 (GRCm39)		probably null	Het
Reln	A	G	5: 22,152,431 (GRCm39)	M2345T	probably damaging	Het
Rnf126	A	T	10: 79,602,603 (GRCm39)	I20N	probably benign	Het
Satb1	A	G	17: 52,089,981 (GRCm39)	S289P	possibly damaging	Het
Scd4	A	T	19: 44,326,003 (GRCm39)	H119L	probably damaging	Het
Sco2	T	C	15: 89,256,574 (GRCm39)	T27A	probably benign	Het
Slc39a14	A	T	14: 70,544,194 (GRCm39)	I464N	probably damaging	Het
Slc4a8	T	A	15: 100,686,092 (GRCm39)	V220E	probably benign	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Tmf1	T	A	6: 97,150,364 (GRCm39)	T448S	probably benign	Het
Tspan33	G	A	6: 29,710,688 (GRCm39)	R87Q	probably damaging	Het
Vmn2r91	A	T	17: 18,326,464 (GRCm39)	M250L	probably benign	Het
Zc3h7a	A	T	16: 10,974,050 (GRCm39)	V245D	probably 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
R2913:Crocc	UTSW	4	140,747,661 (GRCm39)	missense	probably damaging	1.00
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
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'- TCAAGGCCCTTAGCTAGCAG -3'
(R):5'- GAGAGTCCCTTTGCTCCTCAAATC -3'

Sequencing Primer
(F):5'- GCCCTTAGCTAGCAGAAGTG -3'
(R):5'- CTGTCCATACAGCTAGAGGAAG -3'

Posted On

2016-12-20