Mutagenetix > Incidental Mutation

Incidental Mutation 'R6288:Crocc2'

509224

Institutional Source

Beutler Lab

Gene Symbol

Crocc2

Ensembl Gene

ENSMUSG00000084989

Gene Name

ciliary rootlet coiled-coil, rootletin family member 2

Synonyms

E030010N08Rik, LOC381284

MMRRC Submission

044458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6288 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93096447-93158794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93122227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 707 (R707G)

Ref Sequence

ENSEMBL: ENSMUSP00000120588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000138595]

AlphaFold

F6XLV1

Predicted Effect

probably benign
Transcript: ENSMUST00000138595
AA Change: R707G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: R707G

Domain	Start	End	E-Value	Type
low complexity region	67	82	N/A	INTRINSIC
Pfam:Rootletin	89	260	5.1e-24	PFAM
coiled coil region	281	346	N/A	INTRINSIC
internal_repeat_1	381	424	9.68e-9	PROSPERO
internal_repeat_3	389	414	5.46e-6	PROSPERO
internal_repeat_4	398	425	1.1e-5	PROSPERO
coiled coil region	426	627	N/A	INTRINSIC
coiled coil region	655	1247	N/A	INTRINSIC
internal_repeat_2	1252	1280	6.61e-7	PROSPERO
internal_repeat_4	1341	1374	1.1e-5	PROSPERO
internal_repeat_1	1347	1384	9.68e-9	PROSPERO
coiled coil region	1403	1512	N/A	INTRINSIC
coiled coil region	1539	1582	N/A	INTRINSIC
low complexity region	1590	1604	N/A	INTRINSIC

Meta Mutation Damage Score

0.0996

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	T	11: 58,184,421 (GRCm39)	D380Y	probably damaging	Het
4931406B18Rik	T	A	7: 43,147,549 (GRCm39)	E274V	probably damaging	Het
Ankrd44	A	G	1: 54,802,922 (GRCm39)	L192P	probably damaging	Het
Apbb1	T	A	7: 105,208,434 (GRCm39)	I624F	probably damaging	Het
Asxl2	A	G	12: 3,526,040 (GRCm39)	K219E	possibly damaging	Het
Bean1	T	A	8: 104,937,622 (GRCm39)	L33Q	probably damaging	Het
Cdhr17	T	A	5: 17,061,283 (GRCm39)	C738S	possibly damaging	Het
Col22a1	T	C	15: 71,766,718 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,945,462 (GRCm39)	D884G	probably damaging	Het
Cts7	C	T	13: 61,500,584 (GRCm39)	G321E	probably damaging	Het
Cyp2d9	C	T	15: 82,340,616 (GRCm39)	H422Y	probably damaging	Het
Epha2	C	T	4: 141,044,344 (GRCm39)	A382V	probably benign	Het
Fam151a	A	C	4: 106,605,341 (GRCm39)	T568P	probably damaging	Het
Fbln2	A	T	6: 91,210,263 (GRCm39)	Y69F	probably damaging	Het
Flg2	A	T	3: 93,111,092 (GRCm39)	H1040L	unknown	Het
Gucy2g	T	C	19: 55,215,945 (GRCm39)	T476A	probably benign	Het
H3c7	A	G	13: 23,728,664 (GRCm39)	T4A	probably benign	Het
Ighv1-20	C	T	12: 114,687,519 (GRCm39)	G75D	probably benign	Het
Inpp5b	G	A	4: 124,679,020 (GRCm39)	V476I	probably benign	Het
Nrxn2	T	A	19: 6,540,591 (GRCm39)	L855Q	probably damaging	Het
Or52ab2	A	G	7: 102,970,286 (GRCm39)	I223V	probably damaging	Het
Or8h7	A	G	2: 86,721,226 (GRCm39)	F98L	probably benign	Het
Pcolce2	T	A	9: 95,563,646 (GRCm39)	Y211N	probably damaging	Het
Phf21b	A	C	15: 84,739,272 (GRCm39)		probably benign	Het
Rbm8a2	T	C	1: 175,806,111 (GRCm39)	E122G	probably benign	Het
Rimbp3	C	T	16: 17,030,772 (GRCm39)	P1399S	probably benign	Het
Slc38a1	A	G	15: 96,484,759 (GRCm39)	V267A	probably benign	Het
Sox11	A	G	12: 27,392,332 (GRCm39)	F26L	possibly damaging	Het
Ssbp3	T	A	4: 106,903,277 (GRCm39)		probably null	Het
Trim12c	C	T	7: 103,995,936 (GRCm39)	V146I	probably benign	Het
Trrap	C	A	5: 144,748,802 (GRCm39)	T1543K	probably damaging	Het
Zfp473	C	A	7: 44,382,958 (GRCm39)	K457N	probably damaging	Het

Other mutations in Crocc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Crocc2	APN	1	93,144,766 (GRCm39)	nonsense	probably null
Popper	UTSW	1	93,111,126 (GRCm39)	missense	possibly damaging	0.81
R0396:Crocc2	UTSW	1	93,151,936 (GRCm39)	splice site	probably benign
R1382:Crocc2	UTSW	1	93,144,815 (GRCm39)	critical splice donor site	probably null
R4608:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4609:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4619:Crocc2	UTSW	1	93,141,372 (GRCm39)	missense	probably benign
R4646:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4647:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4648:Crocc2	UTSW	1	93,096,516 (GRCm39)	missense	possibly damaging	0.95
R4767:Crocc2	UTSW	1	93,130,578 (GRCm39)	missense	possibly damaging	0.72
R4811:Crocc2	UTSW	1	93,133,618 (GRCm39)	missense	probably damaging	0.99
R5046:Crocc2	UTSW	1	93,133,624 (GRCm39)	missense	probably damaging	0.96
R5389:Crocc2	UTSW	1	93,143,363 (GRCm39)	missense	probably benign	0.03
R5632:Crocc2	UTSW	1	93,145,575 (GRCm39)	missense	probably damaging	0.98
R5887:Crocc2	UTSW	1	93,121,838 (GRCm39)	missense	possibly damaging	0.47
R6128:Crocc2	UTSW	1	93,122,123 (GRCm39)	missense	probably benign	0.28
R6142:Crocc2	UTSW	1	93,118,201 (GRCm39)	missense	possibly damaging	0.61
R6258:Crocc2	UTSW	1	93,141,360 (GRCm39)	missense	possibly damaging	0.57
R6260:Crocc2	UTSW	1	93,141,360 (GRCm39)	missense	possibly damaging	0.57
R6312:Crocc2	UTSW	1	93,143,432 (GRCm39)	nonsense	probably null
R6335:Crocc2	UTSW	1	93,130,560 (GRCm39)	missense	probably benign	0.02
R6339:Crocc2	UTSW	1	93,141,754 (GRCm39)	missense	probably benign	0.23
R6371:Crocc2	UTSW	1	93,143,353 (GRCm39)	missense	probably benign	0.10
R6439:Crocc2	UTSW	1	93,111,126 (GRCm39)	missense	possibly damaging	0.81
R6442:Crocc2	UTSW	1	93,112,775 (GRCm39)	missense	probably benign	0.38
R6545:Crocc2	UTSW	1	93,140,659 (GRCm39)	missense	probably benign	0.45
R6619:Crocc2	UTSW	1	93,118,223 (GRCm39)	missense	probably benign	0.09
R6898:Crocc2	UTSW	1	93,143,304 (GRCm39)	missense	probably benign	0.06
R7170:Crocc2	UTSW	1	93,121,704 (GRCm39)	missense	possibly damaging	0.95
R7378:Crocc2	UTSW	1	93,121,809 (GRCm39)	missense	probably damaging	0.98
R7395:Crocc2	UTSW	1	93,143,829 (GRCm39)	nonsense	probably null
R7461:Crocc2	UTSW	1	93,122,311 (GRCm39)	missense	possibly damaging	0.47
R7613:Crocc2	UTSW	1	93,122,311 (GRCm39)	missense	possibly damaging	0.47
R7831:Crocc2	UTSW	1	93,143,195 (GRCm39)	missense	probably benign	0.17
R7915:Crocc2	UTSW	1	93,141,363 (GRCm39)	missense	probably damaging	1.00
R8085:Crocc2	UTSW	1	93,130,578 (GRCm39)	missense	possibly damaging	0.72
R8171:Crocc2	UTSW	1	93,116,723 (GRCm39)	critical splice donor site	probably null
R8193:Crocc2	UTSW	1	93,117,888 (GRCm39)	splice site	probably null
R8494:Crocc2	UTSW	1	93,144,788 (GRCm39)	missense	probably damaging	1.00
R8856:Crocc2	UTSW	1	93,120,847 (GRCm39)	missense	probably benign	0.41
R8918:Crocc2	UTSW	1	93,129,144 (GRCm39)	missense	possibly damaging	0.51
R8970:Crocc2	UTSW	1	93,116,687 (GRCm39)	missense	probably benign	0.02
R9458:Crocc2	UTSW	1	93,145,516 (GRCm39)	missense	probably damaging	0.97
R9482:Crocc2	UTSW	1	93,143,106 (GRCm39)	missense	probably benign	0.32
R9522:Crocc2	UTSW	1	93,117,429 (GRCm39)	missense	probably benign	0.02
R9597:Crocc2	UTSW	1	93,118,217 (GRCm39)	missense	probably benign	0.26
R9703:Crocc2	UTSW	1	93,130,444 (GRCm39)	missense	probably benign
Z1177:Crocc2	UTSW	1	93,154,414 (GRCm39)	missense	probably benign	0.04
Z1177:Crocc2	UTSW	1	93,141,317 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAAGCAGGGACATTAGGATC -3'
(R):5'- GGAGGTACAATCAGCAATAGCC -3'

Sequencing Primer
(F):5'- CAGGGACATTAGGATCTCCATGTC -3'
(R):5'- CCCGGCAGGATGTGTGATTAC -3'

Posted On

2018-04-02