Mutagenetix > Incidental Mutation

Incidental Mutation 'R5386:Cc2d2a'

425200

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R5386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43819715-43898317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43887383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1271 (N1271S)

Ref Sequence

ENSEMBL: ENSMUSP00000114349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048150] [ENSMUST00000125866]

AlphaFold

Q8CFW7

Predicted Effect

probably benign
Transcript: ENSMUST00000048150
AA Change: N1332S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: N1332S

Domain	Start	End	E-Value	Type
low complexity region	26	41	N/A	INTRINSIC
low complexity region	58	67	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	203	217	N/A	INTRINSIC
coiled coil region	472	501	N/A	INTRINSIC
coiled coil region	553	582	N/A	INTRINSIC
Pfam:CC2D2AN-C2	645	817	2e-36	PFAM
low complexity region	1005	1017	N/A	INTRINSIC
low complexity region	1024	1036	N/A	INTRINSIC
C2	1048	1208	3.43e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125866
AA Change: N1271S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: N1271S

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
low complexity region	75	87	N/A	INTRINSIC
low complexity region	154	168	N/A	INTRINSIC
coiled coil region	423	452	N/A	INTRINSIC
coiled coil region	504	533	N/A	INTRINSIC
Pfam:CC2D2AN-C2	596	768	7.7e-44	PFAM
low complexity region	970	982	N/A	INTRINSIC
C2	994	1154	2.3e-7	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, other(4) Gene trapped(1)

Other mutations in this stock

Total: 134 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	G	8: 87,244,118 (GRCm39)	K1012Q	possibly damaging	Het
Afmid	G	A	11: 117,718,968 (GRCm39)	G33R	probably benign	Het
Agbl3	G	T	6: 34,776,131 (GRCm39)	W207C	probably damaging	Het
Ajuba	T	C	14: 54,807,855 (GRCm39)	Y459C	probably damaging	Het
Ak2	T	C	4: 128,901,965 (GRCm39)	S213P	probably benign	Het
Alk	T	A	17: 72,182,007 (GRCm39)	N1339Y	probably damaging	Het
Angpt1	T	C	15: 42,301,761 (GRCm39)	S416G	probably damaging	Het
Ank2	C	T	3: 126,775,582 (GRCm39)	V854M	probably benign	Het
Ankrd61	G	T	5: 143,828,482 (GRCm39)	N122K	possibly damaging	Het
Armc9	T	A	1: 86,126,011 (GRCm39)	L34Q	probably null	Het
Aspg	T	A	12: 112,089,466 (GRCm39)	V418E	probably benign	Het
Baz1b	C	T	5: 135,266,913 (GRCm39)	R1241C	probably damaging	Het
Bclaf1	T	C	10: 20,201,338 (GRCm39)	V201A	possibly damaging	Het
C1ql3	A	T	2: 13,009,169 (GRCm39)	D225E	probably damaging	Het
Capn9	A	G	8: 125,332,279 (GRCm39)	T417A	possibly damaging	Het
Card14	C	T	11: 119,208,115 (GRCm39)	R62C	probably damaging	Het
Ccpg1	G	A	9: 72,920,326 (GRCm39)	S647N	probably benign	Het
Cdv3	T	C	9: 103,232,429 (GRCm39)	K133R	possibly damaging	Het
Cep128	A	C	12: 90,966,345 (GRCm39)	S1087R	probably benign	Het
Cep70	T	A	9: 99,163,128 (GRCm39)	L325Q	probably damaging	Het
Chit1	T	G	1: 134,077,192 (GRCm39)	F332V	probably damaging	Het
Chodl	C	A	16: 78,743,585 (GRCm39)	T219K	probably damaging	Het
Cntn4	T	C	6: 106,158,765 (GRCm39)	L10P	possibly damaging	Het
Copg1	G	T	6: 87,867,189 (GRCm39)	M87I	possibly damaging	Het
Cplane1	G	A	15: 8,223,897 (GRCm39)	G887R	probably damaging	Het
Cyp3a59	A	G	5: 146,022,578 (GRCm39)	Y28C	probably benign	Het
Dchs1	A	C	7: 105,407,236 (GRCm39)	V2119G	probably damaging	Het
Dedd	T	C	1: 171,165,951 (GRCm39)	L23P	probably damaging	Het
Dmxl2	A	G	9: 54,286,041 (GRCm39)	S2715P	probably benign	Het
Dnah9	T	C	11: 65,920,182 (GRCm39)	N2237S	probably damaging	Het
Drosha	A	G	15: 12,842,207 (GRCm39)	I337V	probably benign	Het
Duox2	A	G	2: 122,125,617 (GRCm39)	V330A	probably benign	Het
Dusp11	T	C	6: 85,924,587 (GRCm39)	*322W	probably null	Het
Dusp8	T	A	7: 141,643,730 (GRCm39)	Q61L	possibly damaging	Het
Ears2	G	C	7: 121,643,600 (GRCm39)	T426S	probably benign	Het
Elmo1	T	C	13: 20,784,380 (GRCm39)	Y646H	probably benign	Het
Eps15	T	A	4: 109,178,422 (GRCm39)	I220K	possibly damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam171a2	C	A	11: 102,328,693 (GRCm39)	V689L	possibly damaging	Het
Fam91a1	G	A	15: 58,320,243 (GRCm39)	S645N	probably benign	Het
Fancg	G	A	4: 43,007,076 (GRCm39)	Q234*	probably null	Het
Garre1	A	G	7: 33,941,813 (GRCm39)	F120L	probably damaging	Het
Gid4	T	A	11: 60,323,268 (GRCm39)		probably null	Het
Gm7361	A	C	5: 26,463,903 (GRCm39)	T53P	probably benign	Het
Golgb1	T	A	16: 36,732,677 (GRCm39)	C641*	probably null	Het
Gon4l	T	A	3: 88,765,803 (GRCm39)	M409K	probably benign	Het
Gpatch8	A	T	11: 102,399,053 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,768,671 (GRCm39)	V64E	possibly damaging	Het
Grid2	T	A	6: 63,908,089 (GRCm39)	I243K	probably damaging	Het
Gucy2g	G	A	19: 55,203,548 (GRCm39)	A750V	probably damaging	Het
Hdac5	T	C	11: 102,092,967 (GRCm39)	E590G	possibly damaging	Het
Herc3	T	A	6: 58,851,263 (GRCm39)	M504K	probably damaging	Het
Hif1a	A	G	12: 73,990,867 (GRCm39)	E713G	probably benign	Het
Hmx3	A	G	7: 131,146,033 (GRCm39)	D247G	probably damaging	Het
Hoxd11	G	T	2: 74,513,163 (GRCm39)	E143*	probably null	Het
Ifitm3	T	C	7: 140,590,554 (GRCm39)	N2S	probably benign	Het
Il17f	T	C	1: 20,848,181 (GRCm39)	Q99R	probably benign	Het
Itga6	T	A	2: 71,671,494 (GRCm39)	S341R	probably damaging	Het
Itgam	A	G	7: 127,707,152 (GRCm39)	N661S	probably benign	Het
Jag1	A	T	2: 136,937,464 (GRCm39)	H303Q	possibly damaging	Het
Kcnh8	T	A	17: 53,033,023 (GRCm39)	N103K	probably benign	Het
Kdm6b	T	C	11: 69,291,636 (GRCm39)		probably benign	Het
Keg1	A	C	19: 12,691,902 (GRCm39)	N63T	probably damaging	Het
Klf12	T	A	14: 100,137,595 (GRCm39)	H317L	probably damaging	Het
Lrp1	A	T	10: 127,427,983 (GRCm39)	V530E	probably damaging	Het
Mrgpra6	A	G	7: 46,838,629 (GRCm39)	C190R	probably damaging	Het
Myo1a	G	T	10: 127,541,766 (GRCm39)	E102*	probably null	Het
Napa	A	T	7: 15,850,397 (GRCm39)	E265D	probably benign	Het
Ncam1	A	C	9: 49,476,174 (GRCm39)	V305G	probably damaging	Het
Nek8	T	C	11: 78,061,263 (GRCm39)		probably null	Het
Or10ag53	C	T	2: 87,082,827 (GRCm39)	P182L	probably benign	Het
Or11g24	T	A	14: 50,662,846 (GRCm39)	V290E	possibly damaging	Het
Or4a70	G	T	2: 89,324,481 (GRCm39)	Y58*	probably null	Het
Or4f52	T	C	2: 111,061,539 (GRCm39)	T200A	probably benign	Het
Or52a20	T	C	7: 103,366,562 (GRCm39)	F254L	probably benign	Het
Or5ak4	T	C	2: 85,161,979 (GRCm39)	T88A	probably benign	Het
Or5h23	T	A	16: 58,906,253 (GRCm39)	M198L	probably benign	Het
Or8c11	A	T	9: 38,289,281 (GRCm39)	I29F	probably benign	Het
Or8g2b	A	G	9: 39,751,126 (GRCm39)	Y132C	possibly damaging	Het
Pabpc4	A	G	4: 123,188,790 (GRCm39)	Q417R	probably benign	Het
Panx3	A	T	9: 37,580,320 (GRCm39)	M11K	probably damaging	Het
Pcbp1	C	T	6: 86,502,471 (GRCm39)	E143K	probably damaging	Het
Pdcd7	G	A	9: 65,265,974 (GRCm39)	W477*	probably null	Het
Pi4k2a	G	A	19: 42,078,954 (GRCm39)	S5N	probably damaging	Het
Plag1	T	A	4: 3,904,075 (GRCm39)	Q372L	probably benign	Het
Plce1	C	A	19: 38,748,535 (GRCm39)	N1755K	probably damaging	Het
Pld4	G	T	12: 112,730,422 (GRCm39)	E102*	probably null	Het
Pnlip	A	G	19: 58,668,039 (GRCm39)	N345S	probably benign	Het
Ppm1e	A	T	11: 87,249,377 (GRCm39)	L118Q	possibly damaging	Het
Prkra	T	G	2: 76,469,622 (GRCm39)	T146P	probably damaging	Het
Prpf8	A	G	11: 75,386,625 (GRCm39)	D1038G	probably damaging	Het
Prss51	T	A	14: 64,334,543 (GRCm39)	V108E	probably damaging	Het
Prxl2b	T	A	4: 154,983,462 (GRCm39)	M1L	probably benign	Het
Ptch1	A	G	13: 63,692,857 (GRCm39)	Y181H	probably damaging	Het
Reln	A	G	5: 22,244,527 (GRCm39)	V817A	probably benign	Het
Rictor	C	A	15: 6,818,985 (GRCm39)	Q1403K	probably benign	Het
Rims1	T	A	1: 22,482,469 (GRCm39)	I882F	probably damaging	Het
Rnf19a	A	G	15: 36,242,185 (GRCm39)	V618A	probably benign	Het
Ryr1	A	T	7: 28,816,841 (GRCm39)	I65N	probably damaging	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Serpine2	A	T	1: 79,799,004 (GRCm39)	Y83*	probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Sgip1	T	C	4: 102,772,256 (GRCm39)	V215A	probably benign	Het
Sgsm3	T	C	15: 80,892,200 (GRCm39)	V256A	probably benign	Het
Shroom4	T	A	X: 6,497,523 (GRCm39)	C894*	probably null	Het
Slc14a2	T	A	18: 78,229,055 (GRCm39)	D306V	possibly damaging	Het
Slc28a2b	C	A	2: 122,353,259 (GRCm39)	L480I	probably benign	Het
Slc4a10	A	T	2: 62,120,402 (GRCm39)	E843V	probably damaging	Het
Smyd4	T	A	11: 75,280,982 (GRCm39)	C152S	probably damaging	Het
Snx10	T	C	6: 51,552,952 (GRCm39)	Y32H	probably damaging	Het
Sorl1	T	C	9: 41,968,580 (GRCm39)	T558A	possibly damaging	Het
Spata31d1b	G	A	13: 59,866,866 (GRCm39)	C1338Y	possibly damaging	Het
Sppl2c	T	A	11: 104,078,127 (GRCm39)	I309K	possibly damaging	Het
Stard9	A	G	2: 120,531,111 (GRCm39)	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tecpr2	T	C	12: 110,881,887 (GRCm39)	V152A	probably damaging	Het
Tedc1	T	C	12: 113,120,302 (GRCm39)	V47A	probably benign	Het
Tep1	A	T	14: 51,105,774 (GRCm39)	L82Q	probably damaging	Het
Tgm4	A	G	9: 122,885,559 (GRCm39)	Y367C	probably damaging	Het
Tle1	C	T	4: 72,060,081 (GRCm39)	V258M	probably damaging	Het
Tm9sf1	C	T	14: 55,880,301 (GRCm39)	G32D	possibly damaging	Het
Tmco2	A	G	4: 120,963,181 (GRCm39)	L106P	probably damaging	Het
Tmem131	A	T	1: 36,911,639 (GRCm39)	C103S	possibly damaging	Het
Tmprss7	T	A	16: 45,489,891 (GRCm39)	I444F	possibly damaging	Het
Trank1	T	C	9: 111,191,470 (GRCm39)	V493A	probably benign	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Trmt6	C	A	2: 132,650,703 (GRCm39)	A302S	probably benign	Het
Ttc17	A	T	2: 94,133,985 (GRCm39)	W1067R	probably damaging	Het
Tulp4	T	A	17: 6,286,568 (GRCm39)	V1532D	probably damaging	Het
Ubqlnl	T	G	7: 103,798,424 (GRCm39)	I358L	probably benign	Het
Ulk3	T	A	9: 57,498,023 (GRCm39)	I108N	possibly damaging	Het
Vps13b	A	T	15: 35,640,674 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,389,365 (GRCm39)	K68E	possibly damaging	Het
Zfp746	G	T	6: 48,041,110 (GRCm39)	H538N	possibly damaging	Het

Other mutations in Cc2d2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cc2d2a	APN	5	43,881,722 (GRCm39)	splice site	probably benign
IGL00937:Cc2d2a	APN	5	43,845,464 (GRCm39)	critical splice acceptor site	probably null
IGL01322:Cc2d2a	APN	5	43,846,345 (GRCm39)	missense	probably benign	0.00
IGL01349:Cc2d2a	APN	5	43,881,126 (GRCm39)	missense	probably benign	0.01
IGL01448:Cc2d2a	APN	5	43,841,527 (GRCm39)	missense	possibly damaging	0.65
IGL01871:Cc2d2a	APN	5	43,846,311 (GRCm39)	missense	probably damaging	0.98
IGL01947:Cc2d2a	APN	5	43,845,579 (GRCm39)	missense	probably damaging	0.96
IGL01976:Cc2d2a	APN	5	43,840,457 (GRCm39)	missense	probably benign	0.02
IGL02113:Cc2d2a	APN	5	43,842,590 (GRCm39)	splice site	probably null
IGL02364:Cc2d2a	APN	5	43,892,792 (GRCm39)	missense	probably damaging	1.00
IGL02448:Cc2d2a	APN	5	43,840,547 (GRCm39)	splice site	probably benign
IGL02458:Cc2d2a	APN	5	43,875,896 (GRCm39)	missense	probably benign	0.01
IGL02542:Cc2d2a	APN	5	43,846,252 (GRCm39)	splice site	probably benign
IGL02834:Cc2d2a	APN	5	43,871,863 (GRCm39)	nonsense	probably null
IGL02940:Cc2d2a	APN	5	43,885,636 (GRCm39)	splice site	probably null
IGL03003:Cc2d2a	APN	5	43,828,608 (GRCm39)	missense	probably benign	0.22
IGL03183:Cc2d2a	APN	5	43,889,721 (GRCm39)	missense	probably damaging	1.00
C9142:Cc2d2a	UTSW	5	43,892,799 (GRCm39)	splice site	probably benign
P0028:Cc2d2a	UTSW	5	43,841,541 (GRCm39)	missense	probably benign
R0193:Cc2d2a	UTSW	5	43,893,460 (GRCm39)	missense	probably damaging	1.00
R0201:Cc2d2a	UTSW	5	43,894,854 (GRCm39)	missense	probably damaging	1.00
R0211:Cc2d2a	UTSW	5	43,845,608 (GRCm39)	splice site	probably null
R0243:Cc2d2a	UTSW	5	43,853,980 (GRCm39)	splice site	probably benign
R0317:Cc2d2a	UTSW	5	43,864,243 (GRCm39)	critical splice donor site	probably null
R0453:Cc2d2a	UTSW	5	43,860,636 (GRCm39)	missense	probably benign	0.00
R0558:Cc2d2a	UTSW	5	43,881,729 (GRCm39)	splice site	probably benign
R0624:Cc2d2a	UTSW	5	43,887,371 (GRCm39)	missense	probably benign
R0634:Cc2d2a	UTSW	5	43,838,723 (GRCm39)	splice site	probably benign
R1503:Cc2d2a	UTSW	5	43,852,581 (GRCm39)	missense	probably damaging	1.00
R1635:Cc2d2a	UTSW	5	43,879,812 (GRCm39)	missense	probably damaging	1.00
R1686:Cc2d2a	UTSW	5	43,896,713 (GRCm39)	missense	possibly damaging	0.81
R1707:Cc2d2a	UTSW	5	43,881,030 (GRCm39)	splice site	probably null
R1715:Cc2d2a	UTSW	5	43,876,003 (GRCm39)	missense	probably damaging	0.97
R1765:Cc2d2a	UTSW	5	43,871,873 (GRCm39)	missense	probably damaging	0.99
R1794:Cc2d2a	UTSW	5	43,845,594 (GRCm39)	missense	probably damaging	1.00
R1881:Cc2d2a	UTSW	5	43,898,170 (GRCm39)	missense	probably damaging	0.99
R1917:Cc2d2a	UTSW	5	43,863,564 (GRCm39)	missense	probably damaging	1.00
R2005:Cc2d2a	UTSW	5	43,883,715 (GRCm39)	critical splice donor site	probably null
R2201:Cc2d2a	UTSW	5	43,841,375 (GRCm39)	splice site	probably benign
R2244:Cc2d2a	UTSW	5	43,889,775 (GRCm39)	missense	probably damaging	1.00
R2368:Cc2d2a	UTSW	5	43,861,230 (GRCm39)	missense	probably benign
R2442:Cc2d2a	UTSW	5	43,828,647 (GRCm39)	critical splice donor site	probably null
R2511:Cc2d2a	UTSW	5	43,892,737 (GRCm39)	missense	probably damaging	0.99
R3023:Cc2d2a	UTSW	5	43,842,593 (GRCm39)	splice site	probably null
R3147:Cc2d2a	UTSW	5	43,866,497 (GRCm39)	missense	probably damaging	1.00
R3148:Cc2d2a	UTSW	5	43,866,497 (GRCm39)	missense	probably damaging	1.00
R3426:Cc2d2a	UTSW	5	43,893,451 (GRCm39)	missense	probably benign	0.00
R3609:Cc2d2a	UTSW	5	43,869,668 (GRCm39)	missense	probably damaging	0.99
R3610:Cc2d2a	UTSW	5	43,869,668 (GRCm39)	missense	probably damaging	0.99
R3611:Cc2d2a	UTSW	5	43,869,668 (GRCm39)	missense	probably damaging	0.99
R3839:Cc2d2a	UTSW	5	43,876,056 (GRCm39)	missense	probably benign
R3870:Cc2d2a	UTSW	5	43,876,033 (GRCm39)	nonsense	probably null
R4334:Cc2d2a	UTSW	5	43,840,476 (GRCm39)	missense	probably benign	0.00
R4913:Cc2d2a	UTSW	5	43,896,665 (GRCm39)	missense	probably benign	0.12
R5179:Cc2d2a	UTSW	5	43,845,563 (GRCm39)	missense	possibly damaging	0.82
R5315:Cc2d2a	UTSW	5	43,877,775 (GRCm39)	missense	probably damaging	0.99
R5352:Cc2d2a	UTSW	5	43,863,555 (GRCm39)	missense	probably damaging	1.00
R5538:Cc2d2a	UTSW	5	43,852,518 (GRCm39)	missense	possibly damaging	0.94
R5568:Cc2d2a	UTSW	5	43,866,433 (GRCm39)	missense	probably damaging	0.99
R5618:Cc2d2a	UTSW	5	43,887,249 (GRCm39)	missense	probably benign	0.00
R5653:Cc2d2a	UTSW	5	43,879,804 (GRCm39)	missense	possibly damaging	0.81
R5817:Cc2d2a	UTSW	5	43,869,760 (GRCm39)	missense	probably damaging	1.00
R5858:Cc2d2a	UTSW	5	43,873,117 (GRCm39)	missense	probably damaging	1.00
R5905:Cc2d2a	UTSW	5	43,869,768 (GRCm39)	missense	probably benign
R5912:Cc2d2a	UTSW	5	43,877,772 (GRCm39)	missense	probably damaging	0.97
R6073:Cc2d2a	UTSW	5	43,887,317 (GRCm39)	missense	probably damaging	1.00
R6084:Cc2d2a	UTSW	5	43,826,015 (GRCm39)	missense	probably benign
R6142:Cc2d2a	UTSW	5	43,860,540 (GRCm39)	missense	probably damaging	0.97
R6176:Cc2d2a	UTSW	5	43,866,455 (GRCm39)	missense	probably benign	0.32
R6238:Cc2d2a	UTSW	5	43,828,577 (GRCm39)	missense	probably benign	0.11
R6381:Cc2d2a	UTSW	5	43,873,118 (GRCm39)	missense	possibly damaging	0.69
R6404:Cc2d2a	UTSW	5	43,861,416 (GRCm39)	missense	possibly damaging	0.58
R6455:Cc2d2a	UTSW	5	43,896,754 (GRCm39)	missense	possibly damaging	0.69
R6695:Cc2d2a	UTSW	5	43,876,019 (GRCm39)	missense	probably damaging	0.99
R6805:Cc2d2a	UTSW	5	43,838,673 (GRCm39)	missense	probably damaging	1.00
R6919:Cc2d2a	UTSW	5	43,860,557 (GRCm39)	missense	probably benign	0.19
R6970:Cc2d2a	UTSW	5	43,875,927 (GRCm39)	missense	probably damaging	1.00
R7024:Cc2d2a	UTSW	5	43,891,271 (GRCm39)	missense	probably benign	0.10
R7054:Cc2d2a	UTSW	5	43,857,321 (GRCm39)	nonsense	probably null
R7071:Cc2d2a	UTSW	5	43,866,455 (GRCm39)	missense	probably benign	0.13
R7098:Cc2d2a	UTSW	5	43,840,481 (GRCm39)	missense	probably benign	0.00
R7366:Cc2d2a	UTSW	5	43,887,332 (GRCm39)	missense	probably damaging	1.00
R7908:Cc2d2a	UTSW	5	43,864,188 (GRCm39)	missense	probably benign	0.00
R7920:Cc2d2a	UTSW	5	43,896,651 (GRCm39)	missense	probably benign	0.09
R7950:Cc2d2a	UTSW	5	43,852,638 (GRCm39)	critical splice donor site	probably null
R8007:Cc2d2a	UTSW	5	43,863,442 (GRCm39)	missense	possibly damaging	0.71
R8117:Cc2d2a	UTSW	5	43,869,781 (GRCm39)	missense	probably damaging	1.00
R8123:Cc2d2a	UTSW	5	43,867,896 (GRCm39)	missense	probably benign
R8179:Cc2d2a	UTSW	5	43,857,295 (GRCm39)	missense	probably damaging	0.96
R8279:Cc2d2a	UTSW	5	43,893,487 (GRCm39)	missense	probably benign	0.01
R8293:Cc2d2a	UTSW	5	43,845,570 (GRCm39)	missense	probably damaging	0.97
R8480:Cc2d2a	UTSW	5	43,842,486 (GRCm39)	splice site	probably null
R8482:Cc2d2a	UTSW	5	43,852,581 (GRCm39)	missense	probably damaging	1.00
R8731:Cc2d2a	UTSW	5	43,892,788 (GRCm39)	missense	probably damaging	1.00
R8780:Cc2d2a	UTSW	5	43,896,692 (GRCm39)	missense	probably damaging	1.00
R8784:Cc2d2a	UTSW	5	43,860,645 (GRCm39)	missense	possibly damaging	0.90
R8871:Cc2d2a	UTSW	5	43,857,285 (GRCm39)	missense	possibly damaging	0.71
R8972:Cc2d2a	UTSW	5	43,867,884 (GRCm39)	missense	probably benign
R9122:Cc2d2a	UTSW	5	43,831,081 (GRCm39)	missense	probably null	0.07
R9125:Cc2d2a	UTSW	5	43,860,563 (GRCm39)	missense	probably benign
R9203:Cc2d2a	UTSW	5	43,891,179 (GRCm39)	missense	probably benign	0.01
R9310:Cc2d2a	UTSW	5	43,852,488 (GRCm39)	missense	probably damaging	1.00
R9343:Cc2d2a	UTSW	5	43,875,999 (GRCm39)	missense	probably damaging	1.00
R9353:Cc2d2a	UTSW	5	43,860,691 (GRCm39)	critical splice donor site	probably null
Z1177:Cc2d2a	UTSW	5	43,860,546 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAAGTTTGATACCCAGGAAGATG -3'
(R):5'- CCAAGGTTTATCATCATCTCTGGAAC -3'

Sequencing Primer
(F):5'- CCCAGGAAGATGAGAAATTACTTC -3'
(R):5'- TCCAAATAAAAGAAGTCCTCATTGC -3'

Posted On

2016-08-04