Mutagenetix > Incidental Mutation

Incidental Mutation 'R7170:Crocc2'

558163

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

045332-MU

Accession Numbers

Essential gene?

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

Stock #

R7170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93096447-93158794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93121704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 618 (A618T)

Ref Sequence

ENSEMBL: ENSMUSP00000120588 (fasta)

Gene Model

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

AlphaFold

F6XLV1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138595
AA Change: A618T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: A618T

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

0.0733

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,836,654 (GRCm39)	T1214A	probably benign	Het
Acte1	T	C	7: 143,450,102 (GRCm39)	S285P	probably damaging	Het
Adgrf5	G	A	17: 43,757,029 (GRCm39)	V708M	possibly damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ankrd7	T	A	6: 18,868,389 (GRCm39)	Y170*	probably null	Het
Aplp2	T	C	9: 31,081,739 (GRCm39)	D236G	probably benign	Het
Apoa5	T	C	9: 46,181,437 (GRCm39)	M171T	probably benign	Het
Bcas3	T	C	11: 85,386,744 (GRCm39)	V393A	probably damaging	Het
Ccdc47	T	C	11: 106,093,304 (GRCm39)	N370S	probably benign	Het
Cfap77	A	T	2: 28,875,854 (GRCm39)	Y85*	probably null	Het
Col4a3	G	A	1: 82,693,630 (GRCm39)		probably null	Het
Crnn	T	A	3: 93,056,020 (GRCm39)	S269T	possibly damaging	Het
D030056L22Rik	A	G	19: 18,690,737 (GRCm39)	K17R	possibly damaging	Het
Emx1	G	A	6: 85,164,983 (GRCm39)	G20D	probably benign	Het
Fabp3	A	G	4: 130,207,763 (GRCm39)	D88G	probably benign	Het
Fam124a	A	C	14: 62,824,629 (GRCm39)	D41A	probably damaging	Het
Fanca	T	C	8: 123,997,945 (GRCm39)	E1247G	probably damaging	Het
Fat3	T	C	9: 15,917,870 (GRCm39)	R1518G	probably damaging	Het
Fgf12	T	C	16: 28,263,931 (GRCm39)	I5V	probably benign	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Ftdc1	G	T	16: 58,436,091 (GRCm39)	C77*	probably null	Het
Fubp3	A	G	2: 31,488,632 (GRCm39)	T163A	probably benign	Het
Gask1a	G	T	9: 121,807,301 (GRCm39)	A482S	probably damaging	Het
Gne	A	G	4: 44,040,361 (GRCm39)	L601P	possibly damaging	Het
Gphn	T	C	12: 78,730,663 (GRCm39)	V766A	possibly damaging	Het
Hsf1	G	T	15: 76,384,221 (GRCm39)	G402C	probably damaging	Het
Ift81	A	T	5: 122,693,596 (GRCm39)	Y604*	probably null	Het
Iqgap3	T	A	3: 88,009,370 (GRCm39)	I768N	probably damaging	Het
Kazald1	A	T	19: 45,066,855 (GRCm39)	D218V	probably benign	Het
Kmt2a	T	C	9: 44,722,018 (GRCm39)	N3776D	unknown	Het
Ktn1	T	C	14: 47,943,867 (GRCm39)	L872S	probably damaging	Het
Lama3	T	G	18: 12,537,133 (GRCm39)	F259L	probably benign	Het
Mfsd6	A	G	1: 52,701,547 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,950,694 (GRCm39)		probably null	Het
Mob3b	A	G	4: 35,083,839 (GRCm39)	Y117H	probably damaging	Het
Mrpl2	G	A	17: 46,959,181 (GRCm39)	G95D	probably damaging	Het
Mstn	A	T	1: 53,105,554 (GRCm39)	I299F	probably damaging	Het
Mta3	C	T	17: 84,022,091 (GRCm39)	R49W	probably damaging	Het
Mylk3	A	G	8: 86,077,114 (GRCm39)	F574L	probably damaging	Het
Naca	T	A	10: 127,875,990 (GRCm39)	S341T	unknown	Het
Ncoa1	T	C	12: 4,299,722 (GRCm39)	D1401G	probably benign	Het
Nedd4	T	A	9: 72,577,381 (GRCm39)	Y69N	probably benign	Het
Nin	T	C	12: 70,091,013 (GRCm39)	T801A		Het
Nsd1	T	A	13: 55,409,439 (GRCm39)	L1336*	probably null	Het
Nudt16l2	C	A	9: 105,020,600 (GRCm39)		probably null	Het
Oprk1	G	A	1: 5,672,619 (GRCm39)	R252H	probably damaging	Het
Or4c10b	A	T	2: 89,711,397 (GRCm39)	T76S	possibly damaging	Het
Or4c10b	A	G	2: 89,711,185 (GRCm39)	N5S	probably benign	Het
Or5w15	C	T	2: 87,568,056 (GRCm39)	G204D	probably damaging	Het
Pcdhga11	T	C	18: 37,889,717 (GRCm39)	F242L	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pold1	T	C	7: 44,191,572 (GRCm39)	H138R	possibly damaging	Het
Ptprd	A	T	4: 75,990,199 (GRCm39)	D504E	probably benign	Het
Rabgap1l	A	G	1: 160,472,935 (GRCm39)	V501A	probably damaging	Het
Rimklb	T	C	6: 122,429,697 (GRCm39)	N233S	probably benign	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Rora	T	A	9: 69,280,472 (GRCm39)	C348*	probably null	Het
Sdhaf3	T	C	6: 6,956,043 (GRCm39)	V6A	probably benign	Het
Serpina3m	T	A	12: 104,355,777 (GRCm39)	L148Q	probably damaging	Het
Sik1	T	C	17: 32,067,746 (GRCm39)	D443G	possibly damaging	Het
Sim2	A	G	16: 93,923,559 (GRCm39)	T366A	probably benign	Het
Slc32a1	T	C	2: 158,453,243 (GRCm39)	F28L	probably damaging	Het
Sorbs1	A	T	19: 40,314,573 (GRCm39)	Y746*	probably null	Het
Speer4b	T	A	5: 27,703,821 (GRCm39)	N106I	possibly damaging	Het
Sphkap	A	G	1: 83,243,706 (GRCm39)	S1269P	probably damaging	Het
Tcf4	T	C	18: 69,766,649 (GRCm39)	V205A	probably damaging	Het
Thsd7a	C	T	6: 12,352,090 (GRCm39)	R1035H		Het
Tmprss11c	A	T	5: 86,385,478 (GRCm39)		probably null	Het
Trim50	A	G	5: 135,396,365 (GRCm39)	T438A	probably benign	Het
Ttc21a	C	T	9: 119,774,607 (GRCm39)	P287L	probably damaging	Het
Ttc41	C	T	10: 86,549,367 (GRCm39)	S187L	probably benign	Het
Ttll3	C	T	6: 113,390,839 (GRCm39)	P807L	probably benign	Het
Ttn	A	C	2: 76,597,696 (GRCm39)	V19739G	probably benign	Het
Usp15	C	A	10: 123,007,100 (GRCm39)	C127F	probably damaging	Het
Vmn2r100	G	T	17: 19,752,233 (GRCm39)	A822S	probably benign	Het
Zan	A	T	5: 137,461,756 (GRCm39)	V1141D	unknown	Het
Zfp457	A	T	13: 67,442,241 (GRCm39)	C111*	probably null	Het
Zfp758	C	T	17: 22,594,116 (GRCm39)	Q201*	probably null	Het
Zkscan2	T	C	7: 123,099,030 (GRCm39)	E54G	possibly 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
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
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'- CCTAGTCACTGCTATTGTGCAC -3'
(R):5'- AGCCCACAGAGAAGGTTCAG -3'

Sequencing Primer
(F):5'- GTGCACTACACTCATCCCTGAC -3'
(R):5'- TCAGGGACATCTTGGTGAAGCC -3'

Posted On

2019-06-26