Mutagenetix > Incidental Mutation

Incidental Mutation 'R8918:Crocc2'

679029

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

068705-MU

Accession Numbers

Essential gene?

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

Stock #

R8918 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93096447-93158794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93129144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 816 (N816K)

Ref Sequence

ENSEMBL: ENSMUSP00000120588 (fasta)

Gene Model

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

AlphaFold

F6XLV1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138595
AA Change: N816K

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: N816K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,333,315 (GRCm39)	F480L	probably damaging	Het
Actr6	A	T	10: 89,553,057 (GRCm39)	I267N	probably damaging	Het
Ank2	A	G	3: 126,737,380 (GRCm39)	S2835P	unknown	Het
Arfgef3	C	T	10: 18,511,453 (GRCm39)	R753Q	probably benign	Het
Arid3a	A	G	10: 79,784,765 (GRCm39)	T285A	probably benign	Het
Atad5	T	C	11: 79,986,473 (GRCm39)	V520A	probably benign	Het
Atoh1	T	G	6: 64,707,241 (GRCm39)	L312R	probably damaging	Het
Brd10	T	C	19: 29,696,841 (GRCm39)	K884R	possibly damaging	Het
Cpt1a	T	C	19: 3,408,258 (GRCm39)	V179A		Het
Csf2ra	A	T	19: 61,214,721 (GRCm39)	V201D	probably damaging	Het
Dok1	C	T	6: 83,008,324 (GRCm39)	V453I	probably benign	Het
Elp4	A	G	2: 105,662,600 (GRCm39)	S175P	probably benign	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Etl4	G	A	2: 20,748,733 (GRCm39)	S357N	probably benign	Het
Etl4	A	G	2: 20,811,246 (GRCm39)	T1478A	probably benign	Het
Gabra1	A	G	11: 42,026,320 (GRCm39)	F324S	probably damaging	Het
Gm11437	T	C	11: 84,043,530 (GRCm39)	T254A	probably benign	Het
Gria2	T	C	3: 80,599,706 (GRCm39)	E726G	probably damaging	Het
Gstm2	A	T	3: 107,892,382 (GRCm39)	C115S	possibly damaging	Het
Ighv1-12	T	C	12: 114,579,553 (GRCm39)	T90A	probably damaging	Het
Inf2	A	G	12: 112,572,703 (GRCm39)	I690V	unknown	Het
Kdm3b	A	G	18: 34,970,650 (GRCm39)	N1739S	probably damaging	Het
Lrp1b	A	T	2: 40,615,893 (GRCm39)	N3614K		Het
Mapk8ip3	A	G	17: 25,131,727 (GRCm39)	L404P	probably damaging	Het
Mcl1	T	C	3: 95,567,192 (GRCm39)	F251S	probably damaging	Het
Mdn1	T	A	4: 32,744,579 (GRCm39)	L4038*	probably null	Het
Mmp8	T	C	9: 7,561,485 (GRCm39)	V163A	probably benign	Het
Myo18b	C	T	5: 113,022,873 (GRCm39)		probably benign	Het
Ndst1	C	T	18: 60,825,083 (GRCm39)	R745H	probably benign	Het
Or4d2b	A	G	11: 87,780,284 (GRCm39)	V146A	probably benign	Het
Or8c18	T	C	9: 38,203,385 (GRCm39)	F48S	probably benign	Het
Pard3	C	T	8: 128,098,011 (GRCm39)	R351C	probably benign	Het
Pcdhgb4	A	G	18: 37,855,648 (GRCm39)	D681G	probably damaging	Het
Pde10a	G	A	17: 9,160,063 (GRCm39)	A163T	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pelp1	A	G	11: 70,296,505 (GRCm39)	L123S	probably damaging	Het
Plekhh2	A	G	17: 84,906,621 (GRCm39)	D1152G	possibly damaging	Het
Rag1	T	C	2: 101,472,098 (GRCm39)	T1015A	probably benign	Het
Rock2	C	T	12: 16,990,422 (GRCm39)	Q115*	probably null	Het
Rorb	T	A	19: 18,915,356 (GRCm39)	H434L	probably damaging	Het
Safb2	A	T	17: 56,882,975 (GRCm39)	C219*	probably null	Het
Sema3a	A	G	5: 13,573,099 (GRCm39)	H209R	probably damaging	Het
Serpinb9g	T	G	13: 33,679,131 (GRCm39)	S334A	probably benign	Het
Slc5a9	T	A	4: 111,741,147 (GRCm39)	M500L	probably benign	Het
Snap91	A	G	9: 86,651,611 (GRCm39)	S810P	unknown	Het
Spink5	G	T	18: 44,100,087 (GRCm39)	A35S	probably damaging	Het
Stxbp5l	G	A	16: 36,954,892 (GRCm39)	T887I		Het
Tacc2	T	C	7: 130,227,823 (GRCm39)	F1503L	probably benign	Het
Tectb	A	G	19: 55,180,000 (GRCm39)	E272G	probably damaging	Het
Trdn	A	T	10: 33,015,117 (GRCm39)	I24F	probably benign	Het
Tshr	G	A	12: 91,504,211 (GRCm39)	S383N	probably benign	Het
Tspan1	C	A	4: 116,020,970 (GRCm39)	C149F	probably damaging	Het
Ttn	A	T	2: 76,570,862 (GRCm39)	L26677Q	probably damaging	Het
Ush2a	T	A	1: 188,270,017 (GRCm39)	F1755I	possibly damaging	Het
Vps13d	T	A	4: 144,772,873 (GRCm39)	I4047F		Het
Zfp1010	A	C	2: 176,958,551 (GRCm39)	S29R	probably benign	Het
Zfp369	T	A	13: 65,443,529 (GRCm39)	L336*	probably null	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfp984	T	C	4: 147,840,623 (GRCm39)	H76R	possibly damaging	Het
Zscan10	G	A	17: 23,826,116 (GRCm39)	G138S	probably benign	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
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
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'- GGCTTTCATGTCAGGCTTAAGG -3'
(R):5'- GGGACTGAGTTCCTTCCAAC -3'

Sequencing Primer
(F):5'- ATAGTTCTGAGTTATTCTGCTGTGAC -3'
(R):5'- GACTGAGTTCCTTCCAACAGTGAC -3'

Posted On

2021-08-02