Mutagenetix > Incidental Mutations

Incidental Mutation 'R6142:Crocc2'

488604

Institutional Source

Beutler Lab

Gene Symbol

Crocc2

Ensembl Gene

ENSMUSG00000084989

Gene Name

ciliary rootlet coiled-coil, rootletin family member 2

Synonyms

LOC381284, E030010N08Rik

MMRRC Submission

044289-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93168725-93231072 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 93190479 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 375 (Q375E)

Ref Sequence

ENSEMBL: ENSMUSP00000120588 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138595
AA Change: Q375E

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: Q375E

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

0.024

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.2%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	T	C	15: 98,598,422	M579V	probably benign	Het
Agtr1b	T	C	3: 20,316,394	D16G	probably benign	Het
Akap12	C	A	10: 4,313,740		probably null	Het
Alpk2	T	C	18: 65,305,385	E979G	possibly damaging	Het
Arfgap3	T	C	15: 83,350,127	D8G	probably damaging	Het
AW551984	G	T	9: 39,597,114	L369I	probably benign	Het
Bmp8b	A	T	4: 123,115,250	H207L	probably benign	Het
Cc2d2a	G	T	5: 43,703,198	V490F	probably damaging	Het
Cnot6l	C	T	5: 96,082,978	V377I	probably benign	Het
Col25a1	T	A	3: 130,583,329		probably benign	Het
Ganc	T	C	2: 120,430,737		probably null	Het
Gm28168	C	A	1: 117,947,948	D102E	probably benign	Het
Gm8212	T	C	14: 44,201,227		probably null	Het
Gria2	T	C	3: 80,801,717	T53A	probably benign	Het
Hipk4	G	A	7: 27,529,165	V347M	probably damaging	Het
Hmgxb3	T	C	18: 61,136,237	E991G	probably benign	Het
Hyal1	G	A	9: 107,579,374	R420H	probably benign	Het
Il5	G	A	11: 53,720,978		probably null	Het
Kcnh7	T	C	2: 62,739,360	I731V	possibly damaging	Het
Lamb2	A	T	9: 108,485,618	K759*	probably null	Het
Lnpep	A	G	17: 17,566,681		probably null	Het
Lrch1	T	C	14: 74,947,500	E54G	probably damaging	Het
Msl3l2	A	G	10: 56,115,365	D62G	possibly damaging	Het
Mslnl	T	C	17: 25,744,557	L339P	probably damaging	Het
Nfe2l2	T	C	2: 75,679,417	I20V	probably damaging	Het
Pgm5	A	C	19: 24,824,408	I152S	probably damaging	Het
Plcg2	C	A	8: 117,585,271	T434K	probably benign	Het
Prrc2c	T	C	1: 162,710,387	E558G	unknown	Het
Ranbp3	T	C	17: 56,686,018	V12A	probably benign	Het
Rgsl1	A	G	1: 153,812,238	V635A	probably benign	Het
Rpap2	T	C	5: 107,598,298	V14A	probably benign	Het
Rxrg	G	T	1: 167,632,622	A341S	possibly damaging	Het
Sbf2	A	G	7: 110,348,975	S1177P	probably damaging	Het
Sema6a	T	C	18: 47,281,199	T498A	probably benign	Het
Slc13a4	G	A	6: 35,301,783	A57V	probably damaging	Het
Slc6a3	A	T	13: 73,544,783	D174V	probably benign	Het
Spg20	T	G	3: 55,117,248	V88G	probably damaging	Het
Tanc1	A	T	2: 59,833,222	R1108*	probably null	Het
Tas2r140	C	T	6: 133,055,735	G20E	probably damaging	Het
Tdrd6	A	G	17: 43,629,482	V225A	probably benign	Het
Tmem168	C	A	6: 13,591,369	A99S	probably benign	Het
Tnk2	T	A	16: 32,670,099	D252E	probably damaging	Het
Tpsg1	A	T	17: 25,372,486	H20L	probably benign	Het
Tram1l1	T	C	3: 124,321,443	F84S	probably damaging	Het
Vmn2r12	T	A	5: 109,092,897	I117L	probably benign	Het
Zfp148	T	C	16: 33,495,459	L219S	possibly damaging	Het
Zfp40	C	A	17: 23,176,337	E425D	probably benign	Het
Zfp773	T	C	7: 7,132,482	T372A	probably benign	Het

Other mutations in Crocc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Crocc2	APN	1	93217044	nonsense	probably null
R0396:Crocc2	UTSW	1	93224214	splice site	probably benign
R1382:Crocc2	UTSW	1	93217093	critical splice donor site	probably null
R4608:Crocc2	UTSW	1	93168794	missense	possibly damaging	0.95
R4609:Crocc2	UTSW	1	93168794	missense	possibly damaging	0.95
R4619:Crocc2	UTSW	1	93213650	missense	probably benign
R4646:Crocc2	UTSW	1	93168794	missense	possibly damaging	0.95
R4647:Crocc2	UTSW	1	93168794	missense	possibly damaging	0.95
R4648:Crocc2	UTSW	1	93168794	missense	possibly damaging	0.95
R4767:Crocc2	UTSW	1	93202856	missense	possibly damaging	0.72
R4811:Crocc2	UTSW	1	93205896	missense	probably damaging	0.99
R5046:Crocc2	UTSW	1	93205902	missense	probably damaging	0.96
R5389:Crocc2	UTSW	1	93215641	missense	probably benign	0.03
R5632:Crocc2	UTSW	1	93217853	missense	probably damaging	0.98
R5887:Crocc2	UTSW	1	93194116	missense	possibly damaging	0.47
R6128:Crocc2	UTSW	1	93194401	missense	probably benign	0.28
R6258:Crocc2	UTSW	1	93213638	missense	possibly damaging	0.57
R6260:Crocc2	UTSW	1	93213638	missense	possibly damaging	0.57
R6288:Crocc2	UTSW	1	93194505	missense	probably benign	0.07
R6312:Crocc2	UTSW	1	93215710	nonsense	probably null
R6335:Crocc2	UTSW	1	93202838	missense	probably benign	0.02
R6339:Crocc2	UTSW	1	93214032	missense	probably benign	0.23
R6371:Crocc2	UTSW	1	93215631	missense	probably benign	0.10
R6439:Crocc2	UTSW	1	93183404	missense	possibly damaging	0.81
R6442:Crocc2	UTSW	1	93185053	missense	probably benign	0.38
R6545:Crocc2	UTSW	1	93212937	missense	probably benign	0.45
R6619:Crocc2	UTSW	1	93190501	missense	probably benign	0.09
R6898:Crocc2	UTSW	1	93215582	missense	probably benign	0.06
R7170:Crocc2	UTSW	1	93193982	missense	possibly damaging	0.95
R7378:Crocc2	UTSW	1	93194087	missense	probably damaging	0.98
R7395:Crocc2	UTSW	1	93216107	nonsense	probably null
R7461:Crocc2	UTSW	1	93194589	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- ATGTCCTGGCCAGCATCAAG -3'
(R):5'- AAGGCTCTAGACACCTGAGG -3'

Sequencing Primer
(F):5'- CAGCATCAAGGAGGTATGGCC -3'
(R):5'- CTTTCAATGGCTGCCTGCACAG -3'

Posted On

2017-10-10