Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:Crocc2'

425441

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

042961-MU

Accession Numbers

Essential gene?

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

Stock #

R5389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93096447-93158794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93143363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1322 (Q1322K)

Ref Sequence

ENSEMBL: ENSMUSP00000120588 (fasta)

Gene Model

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

AlphaFold

F6XLV1

Predicted Effect

probably benign
Transcript: ENSMUST00000138595
AA Change: Q1322K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: Q1322K

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

0.0932

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,795 (GRCm39)	V398A	probably benign	Het
A430033K04Rik	T	A	5: 138,644,559 (GRCm39)	V148E	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,485,536 (GRCm39)	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900 (GRCm39)		probably benign	Het
Arrb2	T	C	11: 70,329,484 (GRCm39)	S265P	probably damaging	Het
Baiap2	T	C	11: 119,887,496 (GRCm39)	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,103 (GRCm39)	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907 (GRCm39)	V96F	probably damaging	Het
Cenpe	T	C	3: 134,965,149 (GRCm39)		probably null	Het
Cryzl2	T	A	1: 157,289,546 (GRCm39)	C61*	probably null	Het
Dazl	T	C	17: 50,595,718 (GRCm39)	I56V	probably benign	Het
Dnah12	A	T	14: 26,456,904 (GRCm39)	D890V	probably damaging	Het
Dnah9	C	A	11: 65,986,140 (GRCm39)	E1165*	probably null	Het
Dnmt3l	T	A	10: 77,892,665 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,739,960 (GRCm39)	N62S	possibly damaging	Het
Entr1	T	C	2: 26,275,559 (GRCm39)	D244G	probably damaging	Het
Fam216b	T	A	14: 78,322,503 (GRCm39)	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,481,954 (GRCm39)	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Gvin3	T	C	7: 106,197,442 (GRCm39)		noncoding transcript	Het
Igf2r	T	C	17: 12,944,303 (GRCm39)	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,512,413 (GRCm39)	F20L	probably benign	Het
Klhl5	T	A	5: 65,298,625 (GRCm39)	L135M	possibly damaging	Het
Klk1b16	A	T	7: 43,790,412 (GRCm39)	M196L	possibly damaging	Het
Ltf	T	C	9: 110,858,719 (GRCm39)	M489T	possibly damaging	Het
Mctp2	G	T	7: 71,863,835 (GRCm39)	R343S	possibly damaging	Het
Nbas	T	A	12: 13,584,578 (GRCm39)		probably null	Het
Ncr1	A	T	7: 4,343,932 (GRCm39)	M177L	probably benign	Het
Net1	C	T	13: 3,936,170 (GRCm39)	E305K	probably damaging	Het
Nfx1	T	C	4: 40,985,000 (GRCm39)	F375L	probably damaging	Het
Notch3	T	A	17: 32,358,163 (GRCm39)	I1687L	probably benign	Het
Obsl1	A	T	1: 75,479,905 (GRCm39)		probably benign	Het
Or2ag16	A	T	7: 106,352,290 (GRCm39)	F102I	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Or51v14	G	T	7: 103,260,797 (GRCm39)	Y254*	probably null	Het
Or5g23	A	G	2: 85,438,627 (GRCm39)	F209S	probably benign	Het
Or5j3	G	A	2: 86,128,561 (GRCm39)	V134M	possibly damaging	Het
Or5p79	A	C	7: 108,221,924 (GRCm39)	I302L	probably damaging	Het
Orai1	A	T	5: 123,167,564 (GRCm39)	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,899,785 (GRCm39)	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,654,998 (GRCm39)	T199K	probably damaging	Het
Prkd1	T	A	12: 50,389,920 (GRCm39)	I819F	probably damaging	Het
Ptpn9	T	C	9: 56,964,121 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,478,666 (GRCm39)	E255G	probably damaging	Het
Sema3e	T	C	5: 14,286,099 (GRCm39)		probably benign	Het
Serpina3c	T	C	12: 104,115,699 (GRCm39)	M282V	possibly damaging	Het
Slco1a7	A	G	6: 141,686,193 (GRCm39)	F216L	probably benign	Het
Slco2b1	A	G	7: 99,335,132 (GRCm39)	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,916,309 (GRCm39)		noncoding transcript	Het
Slco6d1	A	T	1: 98,371,369 (GRCm39)	I285F	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sp9	C	A	2: 73,104,641 (GRCm39)	N398K	probably damaging	Het
Sycp2	A	C	2: 178,019,495 (GRCm39)		probably null	Het
Tbc1d23	T	C	16: 57,019,291 (GRCm39)	D219G	probably damaging	Het
Tdpoz3	A	G	3: 93,734,179 (GRCm39)	R285G	probably benign	Het
Trim2	T	A	3: 84,074,960 (GRCm39)	Q694L	probably null	Het
Trim23	T	A	13: 104,328,541 (GRCm39)	V293D	probably damaging	Het
Ttn	A	G	2: 76,665,183 (GRCm39)		probably benign	Het
Vmn2r12	T	A	5: 109,238,261 (GRCm39)	Y493F	probably benign	Het
Vps41	T	A	13: 19,046,708 (GRCm39)	I753N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Yme1l1	G	A	2: 23,083,246 (GRCm39)	G571R	probably damaging	Het
Zfp322a	A	T	13: 23,541,149 (GRCm39)	C198S	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
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
R6288:Crocc2	UTSW	1	93,122,227 (GRCm39)	missense	probably benign	0.07
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'- TCTTTGTGAGAGCCAGAGGG -3'
(R):5'- GTAAGCACAGACTCCTAAAGTTG -3'

Sequencing Primer
(F):5'- CCAGAGGGCTGAGCAGAC -3'
(R):5'- GGTCCAGCCTCCTTATTACATAGG -3'

Posted On

2016-08-04