Mutagenetix > Incidental Mutation

Incidental Mutation 'R0280:Crocc'

37443

Institutional Source

Beutler Lab

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

MMRRC Submission

038502-MU

Accession Numbers

Essential gene?

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

Stock #

R0280 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

140743948-140787861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140755737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1097 (E1097G)

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: E1097G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: E1097G

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: E1097G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: E1097G

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: E1261G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: E1261G

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: E1097G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: E1097G

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

0.1160

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ankrd16	T	G	2: 11,786,312 (GRCm39)	V187G	probably damaging	Het
Ccdc110	A	T	8: 46,396,487 (GRCm39)	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,508,663 (GRCm39)	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,093,172 (GRCm39)	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Csmd1	A	T	8: 16,321,616 (GRCm39)	V494E	probably damaging	Het
Drg1	A	T	11: 3,206,537 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,840,206 (GRCm39)	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Esr1	A	G	10: 4,806,951 (GRCm39)	D289G	probably benign	Het
Esr1	G	T	10: 4,889,289 (GRCm39)	V396F	probably damaging	Het
Evi5l	T	C	8: 4,243,133 (GRCm39)	V339A	probably damaging	Het
Fat4	A	T	3: 38,944,965 (GRCm39)	Q1286L	probably benign	Het
Fcsk	A	T	8: 111,621,380 (GRCm39)	V188D	probably damaging	Het
Frem1	T	C	4: 82,887,681 (GRCm39)	H1118R	probably damaging	Het
Fut9	C	T	4: 25,619,852 (GRCm39)	D321N	probably benign	Het
Gaa	T	G	11: 119,175,373 (GRCm39)	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,583,839 (GRCm39)		probably null	Het
Kidins220	A	G	12: 25,060,140 (GRCm39)	T767A	probably damaging	Het
Kif7	A	G	7: 79,348,571 (GRCm39)	S1257P	probably benign	Het
Ltn1	A	G	16: 87,194,726 (GRCm39)	L1391P	probably damaging	Het
Mast3	A	G	8: 71,236,439 (GRCm39)	Y681H	probably damaging	Het
Mast3	A	G	8: 71,240,564 (GRCm39)	V291A	possibly damaging	Het
Metrn	C	T	17: 26,014,109 (GRCm39)	R239H	probably benign	Het
Mphosph10	C	A	7: 64,026,451 (GRCm39)	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,449,857 (GRCm39)	T433I	probably benign	Het
Mtmr2	A	G	9: 13,710,545 (GRCm39)	K365E	probably damaging	Het
Nanog	A	G	6: 122,690,357 (GRCm39)	D229G	probably damaging	Het
Nkapd1	T	C	9: 50,520,679 (GRCm39)	T123A	probably damaging	Het
Npepps	T	C	11: 97,131,840 (GRCm39)	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,636,393 (GRCm39)		probably benign	Het
Odad4	A	T	11: 100,441,091 (GRCm39)	K107N	probably damaging	Het
Or4g16	T	C	2: 111,137,417 (GRCm39)	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,914,062 (GRCm39)	E357G	probably damaging	Het
Polb	A	T	8: 23,130,408 (GRCm39)	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,090,512 (GRCm39)	S74T	probably benign	Het
Raet1d	T	A	10: 22,246,782 (GRCm39)	C37S	probably damaging	Het
Reln	G	A	5: 22,432,511 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,541,197 (GRCm39)	S369G	probably damaging	Het
Sgf29	A	G	7: 126,270,743 (GRCm39)	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,863,361 (GRCm39)	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,874,187 (GRCm39)	L188*	probably null	Het
Slc9a3	T	A	13: 74,307,543 (GRCm39)	I445N	probably damaging	Het
Sufu	A	T	19: 46,439,112 (GRCm39)		probably benign	Het
Tomm40	G	A	7: 19,447,676 (GRCm39)	T118I	probably damaging	Het
Ttn	C	T	2: 76,570,823 (GRCm39)	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,488,005 (GRCm39)	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vsig8	A	G	1: 172,389,105 (GRCm39)	D119G	probably benign	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
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
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'- GAACTGGTCTCCTGAAATGGGTGC -3'
(R):5'- TGTCGGTCACCCTGGAAACTGAAC -3'

Sequencing Primer
(F):5'- CCTGAAATGGGTGCTGCTG -3'
(R):5'- CGCACTATGTCAGTGCAAG -3'

Posted On

2013-05-23