Mutagenetix > Incidental Mutation

Incidental Mutation 'R0243:Cc2d2a'

37843

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

MMRRC Submission

038481-MU

Accession Numbers

Genbank: NM_172274; MGI: 1924487

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R0243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43662346-43740972 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 43696638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114349 (fasta)

Gene Model

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

AlphaFold

Q8CFW7

Predicted Effect

probably benign
Transcript: ENSMUST00000048150

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765

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

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127355

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 63,898,463 (GRCm38)	Y181D	probably benign	Het
1110034G24Rik	T	C	2: 132,750,639 (GRCm38)	V202A	probably benign	Het
1700029H14Rik	A	G	8: 13,554,715 (GRCm38)	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,938,078 (GRCm38)	D7G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,241 (GRCm38)	Y262H	probably damaging	Het
Acap1	A	G	11: 69,885,426 (GRCm38)	V249A	probably damaging	Het
Acat2	A	T	17: 12,944,021 (GRCm38)	D313E	probably benign	Het
Actn4	T	C	7: 28,905,398 (GRCm38)	T325A	probably benign	Het
Adamdec1	C	T	14: 68,581,958 (GRCm38)		probably null	Het
Adat2	A	G	10: 13,553,293 (GRCm38)	T10A	probably benign	Het
Aff4	T	A	11: 53,397,858 (GRCm38)	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,791,481 (GRCm38)	P104L	possibly damaging	Het
Alox12	G	T	11: 70,242,716 (GRCm38)	T594K	possibly damaging	Het
Als2	C	A	1: 59,215,387 (GRCm38)	K270N	probably benign	Het
Ankhd1	T	A	18: 36,634,734 (GRCm38)	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,634,944 (GRCm38)	I69N	probably damaging	Het
Aox4	G	A	1: 58,213,076 (GRCm38)	V37I	probably benign	Het
Arfgap3	A	G	15: 83,330,513 (GRCm38)		probably benign	Het
Arhgef4	T	A	1: 34,806,999 (GRCm38)		probably null	Het
Asic1	C	T	15: 99,698,617 (GRCm38)		probably benign	Het
Atp8b5	A	G	4: 43,366,057 (GRCm38)	N776S	probably benign	Het
Bbs7	A	G	3: 36,605,734 (GRCm38)	I184T	probably benign	Het
Bbs9	A	T	9: 22,514,001 (GRCm38)	H117L	probably damaging	Het
Bnip2	T	C	9: 69,995,505 (GRCm38)	W10R	probably damaging	Het
Brd4	G	T	17: 32,224,123 (GRCm38)	Q175K	probably benign	Het
Bysl	A	T	17: 47,606,896 (GRCm38)	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,346,573 (GRCm38)		probably benign	Het
Ccdc134	G	T	15: 82,140,946 (GRCm38)	E215D	probably damaging	Het
Celsr3	G	T	9: 108,843,724 (GRCm38)		probably benign	Het
Cntn5	T	A	9: 9,781,775 (GRCm38)	D428V	probably damaging	Het
Cog1	A	G	11: 113,656,995 (GRCm38)		probably benign	Het
Col11a2	G	T	17: 34,062,546 (GRCm38)		probably benign	Het
Cyp4f13	G	A	17: 32,924,969 (GRCm38)		probably benign	Het
D3Ertd254e	A	G	3: 36,165,154 (GRCm38)	H442R	possibly damaging	Het
Dffb	T	A	4: 153,965,378 (GRCm38)	K343*	probably null	Het
Dnah9	T	A	11: 65,911,852 (GRCm38)	I224F	possibly damaging	Het
Dolk	A	T	2: 30,286,019 (GRCm38)	C5S	probably benign	Het
Ebf1	A	T	11: 44,869,088 (GRCm38)		probably benign	Het
Elac1	A	G	18: 73,742,363 (GRCm38)	L199P	probably damaging	Het
Elmod1	A	C	9: 53,935,547 (GRCm38)		probably benign	Het
Ep400	A	C	5: 110,724,407 (GRCm38)		probably benign	Het
F10	A	T	8: 13,048,196 (GRCm38)	N133I	probably damaging	Het
Fasn	A	G	11: 120,815,315 (GRCm38)	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,624,557 (GRCm38)	E12G	probably damaging	Het
Fer	G	T	17: 64,078,946 (GRCm38)	L304F	probably benign	Het
Filip1	A	C	9: 79,819,003 (GRCm38)	L778R	probably damaging	Het
Fli1	A	T	9: 32,423,981 (GRCm38)	I385N	probably benign	Het
Fpgs	A	T	2: 32,692,494 (GRCm38)	L89*	probably null	Het
Gab2	T	G	7: 97,299,241 (GRCm38)	I346R	probably damaging	Het
Gm10764	G	A	10: 87,290,979 (GRCm38)	G83R	unknown	Het
Gpr83	G	T	9: 14,864,842 (GRCm38)	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,403,536 (GRCm38)	L783P	possibly damaging	Het
Gys2	A	G	6: 142,472,668 (GRCm38)		probably benign	Het
Heatr9	C	T	11: 83,513,338 (GRCm38)	V378I	possibly damaging	Het
Helz	A	T	11: 107,637,914 (GRCm38)	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,695,183 (GRCm38)	Q459L	probably damaging	Het
Ints12	T	C	3: 133,109,045 (GRCm38)	S338P	probably benign	Het
Kif13a	T	C	13: 46,791,351 (GRCm38)	T925A	probably benign	Het
Kif1a	C	T	1: 93,042,093 (GRCm38)	V1051I	probably damaging	Het
Kif7	T	A	7: 79,699,560 (GRCm38)	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,850,137 (GRCm38)		probably benign	Het
Krt90	C	T	15: 101,562,675 (GRCm38)	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,936,746 (GRCm38)	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,428,630 (GRCm38)	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,385,944 (GRCm38)	E493G	probably damaging	Het
Matk	T	G	10: 81,258,492 (GRCm38)	L28V	probably benign	Het
Mcc	T	A	18: 44,759,299 (GRCm38)	T83S	probably benign	Het
Mtch1	A	T	17: 29,340,106 (GRCm38)	M204K	possibly damaging	Het
Muc4	T	G	16: 32,765,746 (GRCm38)	C2622G	possibly damaging	Het
Myo5a	G	A	9: 75,186,123 (GRCm38)		probably null	Het
Myoz3	T	C	18: 60,578,951 (GRCm38)	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,592,138 (GRCm38)	V196A	probably benign	Het
Nr2f2	G	C	7: 70,360,175 (GRCm38)	P52R	probably damaging	Het
Nup214	T	A	2: 31,998,057 (GRCm38)		probably benign	Het
Olfr1261	T	A	2: 89,993,806 (GRCm38)	F138I	probably benign	Het
Olfr1383	T	C	11: 49,523,912 (GRCm38)	L63P	probably damaging	Het
Olfr169	T	G	16: 19,566,294 (GRCm38)	E196D	probably damaging	Het
Pank3	T	C	11: 35,781,716 (GRCm38)		probably benign	Het
Parm1	A	T	5: 91,594,294 (GRCm38)	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,692,418 (GRCm38)		probably null	Het
Pclo	A	T	5: 14,775,420 (GRCm38)	K4661M	unknown	Het
Pcsk7	A	C	9: 45,916,059 (GRCm38)	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,770,319 (GRCm38)	S784I	possibly damaging	Het
Pex6	T	A	17: 46,723,737 (GRCm38)		probably null	Het
Pi4ka	C	T	16: 17,297,635 (GRCm38)	V1384M	probably benign	Het
Polr3f	T	A	2: 144,536,275 (GRCm38)		probably benign	Het
Ppp2r3a	A	T	9: 101,212,284 (GRCm38)	V280E	probably damaging	Het
Prdm14	C	T	1: 13,122,448 (GRCm38)	G356R	probably damaging	Het
Prepl	A	G	17: 85,065,038 (GRCm38)		probably null	Het
Primpol	T	C	8: 46,599,814 (GRCm38)	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,503,416 (GRCm38)	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,152,225 (GRCm38)	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,719,351 (GRCm38)	D405E	probably damaging	Het
Rbm26	T	C	14: 105,131,938 (GRCm38)	T686A	probably benign	Het
Rint1	A	G	5: 23,816,932 (GRCm38)		probably benign	Het
Rnasek	G	T	11: 70,238,440 (GRCm38)	Y62*	probably null	Het
Rnf17	T	G	14: 56,482,084 (GRCm38)	N930K	possibly damaging	Het
Sap130	A	G	18: 31,680,681 (GRCm38)		probably benign	Het
Sectm1b	T	A	11: 121,055,785 (GRCm38)	I95F	probably damaging	Het
Sema4f	A	T	6: 82,939,466 (GRCm38)	I53N	possibly damaging	Het
Siglec1	T	C	2: 131,085,476 (GRCm38)	T137A	probably damaging	Het
Six5	A	C	7: 19,097,022 (GRCm38)		probably null	Het
Slc22a30	A	T	19: 8,345,357 (GRCm38)	I345N	probably benign	Het
Slc25a27	A	T	17: 43,643,627 (GRCm38)	M316K	probably benign	Het
Slc2a8	A	T	2: 32,980,104 (GRCm38)		probably benign	Het
Snx1	G	A	9: 66,101,326 (GRCm38)		probably benign	Het
Spag17	A	G	3: 100,085,368 (GRCm38)	T1727A	probably benign	Het
Spata20	T	C	11: 94,481,646 (GRCm38)	D633G	probably benign	Het
Spock1	C	T	13: 57,436,109 (GRCm38)		probably null	Het
Sra1	A	T	18: 36,675,706 (GRCm38)	Y291*	probably null	Het
Sspo	C	A	6: 48,493,186 (GRCm38)	P4520T	probably damaging	Het
Stat4	A	G	1: 52,011,857 (GRCm38)	N25S	probably benign	Het
Tbx18	A	T	9: 87,715,516 (GRCm38)		probably benign	Het
Tctex1d2	A	G	16: 32,426,887 (GRCm38)	D118G	probably damaging	Het
Tep1	T	A	14: 50,846,987 (GRCm38)	I187F	probably damaging	Het
Tfap2b	A	T	1: 19,234,123 (GRCm38)	I368F	probably damaging	Het
Tmtc1	A	T	6: 148,246,837 (GRCm38)	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,538,489 (GRCm38)		probably benign	Het
Tnc	G	T	4: 63,970,420 (GRCm38)	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213 (GRCm38)	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,675,866 (GRCm38)	P281S	probably benign	Het
Trim45	A	G	3: 100,929,844 (GRCm38)	R499G	probably benign	Het
Tulp3	A	T	6: 128,325,958 (GRCm38)	Y299*	probably null	Het
Ube4a	A	T	9: 44,946,178 (GRCm38)		probably benign	Het
Ubr3	T	G	2: 69,951,405 (GRCm38)	S642R	probably damaging	Het
Vcpip1	A	T	1: 9,747,206 (GRCm38)	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,844,402 (GRCm38)	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,687,577 (GRCm38)	V24I	probably benign	Het
Wdr41	C	T	13: 95,017,406 (GRCm38)	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,178,835 (GRCm38)	N44D	probably benign	Het
Wnt7b	C	A	15: 85,558,902 (GRCm38)		probably null	Het
Zfp108	T	C	7: 24,261,783 (GRCm38)	S600P	possibly damaging	Het
Zfp385b	A	G	2: 77,415,728 (GRCm38)		probably null	Het
Zfp395	T	C	14: 65,386,480 (GRCm38)	S133P	probably benign	Het
Zfp407	T	A	18: 84,558,711 (GRCm38)	M1426L	probably damaging	Het
Zfp641	T	G	15: 98,289,127 (GRCm38)	N191T	possibly damaging	Het
Zfp687	T	C	3: 95,011,553 (GRCm38)	S303G	probably damaging	Het
Zfp759	T	A	13: 67,138,813 (GRCm38)	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,615,446 (GRCm38)	E1690Q	probably damaging	Het

Other mutations in Cc2d2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cc2d2a	APN	5	43,724,380 (GRCm38)	splice site	probably benign
IGL00937:Cc2d2a	APN	5	43,688,122 (GRCm38)	critical splice acceptor site	probably null
IGL01322:Cc2d2a	APN	5	43,689,003 (GRCm38)	missense	probably benign	0.00
IGL01349:Cc2d2a	APN	5	43,723,784 (GRCm38)	missense	probably benign	0.01
IGL01448:Cc2d2a	APN	5	43,684,185 (GRCm38)	missense	possibly damaging	0.65
IGL01871:Cc2d2a	APN	5	43,688,969 (GRCm38)	missense	probably damaging	0.98
IGL01947:Cc2d2a	APN	5	43,688,237 (GRCm38)	missense	probably damaging	0.96
IGL01976:Cc2d2a	APN	5	43,683,115 (GRCm38)	missense	probably benign	0.02
IGL02113:Cc2d2a	APN	5	43,685,248 (GRCm38)	splice site	probably null
IGL02364:Cc2d2a	APN	5	43,735,450 (GRCm38)	missense	probably damaging	1.00
IGL02448:Cc2d2a	APN	5	43,683,205 (GRCm38)	splice site	probably benign
IGL02458:Cc2d2a	APN	5	43,718,554 (GRCm38)	missense	probably benign	0.01
IGL02542:Cc2d2a	APN	5	43,688,910 (GRCm38)	splice site	probably benign
IGL02834:Cc2d2a	APN	5	43,714,521 (GRCm38)	nonsense	probably null
IGL02940:Cc2d2a	APN	5	43,728,294 (GRCm38)	splice site	probably null
IGL03003:Cc2d2a	APN	5	43,671,266 (GRCm38)	missense	probably benign	0.22
IGL03183:Cc2d2a	APN	5	43,732,379 (GRCm38)	missense	probably damaging	1.00
C9142:Cc2d2a	UTSW	5	43,735,457 (GRCm38)	splice site	probably benign
P0028:Cc2d2a	UTSW	5	43,684,199 (GRCm38)	missense	probably benign
R0193:Cc2d2a	UTSW	5	43,736,118 (GRCm38)	missense	probably damaging	1.00
R0201:Cc2d2a	UTSW	5	43,737,512 (GRCm38)	missense	probably damaging	1.00
R0211:Cc2d2a	UTSW	5	43,688,266 (GRCm38)	splice site	probably null
R0317:Cc2d2a	UTSW	5	43,706,901 (GRCm38)	critical splice donor site	probably null
R0453:Cc2d2a	UTSW	5	43,703,294 (GRCm38)	missense	probably benign	0.00
R0558:Cc2d2a	UTSW	5	43,724,387 (GRCm38)	splice site	probably benign
R0624:Cc2d2a	UTSW	5	43,730,029 (GRCm38)	missense	probably benign
R0634:Cc2d2a	UTSW	5	43,681,381 (GRCm38)	splice site	probably benign
R1503:Cc2d2a	UTSW	5	43,695,239 (GRCm38)	missense	probably damaging	1.00
R1635:Cc2d2a	UTSW	5	43,722,470 (GRCm38)	missense	probably damaging	1.00
R1686:Cc2d2a	UTSW	5	43,739,371 (GRCm38)	missense	possibly damaging	0.81
R1707:Cc2d2a	UTSW	5	43,723,688 (GRCm38)	splice site	probably null
R1715:Cc2d2a	UTSW	5	43,718,661 (GRCm38)	missense	probably damaging	0.97
R1765:Cc2d2a	UTSW	5	43,714,531 (GRCm38)	missense	probably damaging	0.99
R1794:Cc2d2a	UTSW	5	43,688,252 (GRCm38)	missense	probably damaging	1.00
R1881:Cc2d2a	UTSW	5	43,740,828 (GRCm38)	missense	probably damaging	0.99
R1917:Cc2d2a	UTSW	5	43,706,222 (GRCm38)	missense	probably damaging	1.00
R2005:Cc2d2a	UTSW	5	43,726,373 (GRCm38)	critical splice donor site	probably null
R2201:Cc2d2a	UTSW	5	43,684,033 (GRCm38)	splice site	probably benign
R2244:Cc2d2a	UTSW	5	43,732,433 (GRCm38)	missense	probably damaging	1.00
R2368:Cc2d2a	UTSW	5	43,703,888 (GRCm38)	missense	probably benign
R2442:Cc2d2a	UTSW	5	43,671,305 (GRCm38)	critical splice donor site	probably null
R2511:Cc2d2a	UTSW	5	43,735,395 (GRCm38)	missense	probably damaging	0.99
R3023:Cc2d2a	UTSW	5	43,685,251 (GRCm38)	splice site	probably null
R3147:Cc2d2a	UTSW	5	43,709,155 (GRCm38)	missense	probably damaging	1.00
R3148:Cc2d2a	UTSW	5	43,709,155 (GRCm38)	missense	probably damaging	1.00
R3426:Cc2d2a	UTSW	5	43,736,109 (GRCm38)	missense	probably benign	0.00
R3609:Cc2d2a	UTSW	5	43,712,326 (GRCm38)	missense	probably damaging	0.99
R3610:Cc2d2a	UTSW	5	43,712,326 (GRCm38)	missense	probably damaging	0.99
R3611:Cc2d2a	UTSW	5	43,712,326 (GRCm38)	missense	probably damaging	0.99
R3839:Cc2d2a	UTSW	5	43,718,714 (GRCm38)	missense	probably benign
R3870:Cc2d2a	UTSW	5	43,718,691 (GRCm38)	nonsense	probably null
R4334:Cc2d2a	UTSW	5	43,683,134 (GRCm38)	missense	probably benign	0.00
R4913:Cc2d2a	UTSW	5	43,739,323 (GRCm38)	missense	probably benign	0.12
R5179:Cc2d2a	UTSW	5	43,688,221 (GRCm38)	missense	possibly damaging	0.82
R5315:Cc2d2a	UTSW	5	43,720,433 (GRCm38)	missense	probably damaging	0.99
R5352:Cc2d2a	UTSW	5	43,706,213 (GRCm38)	missense	probably damaging	1.00
R5386:Cc2d2a	UTSW	5	43,730,041 (GRCm38)	missense	probably benign	0.01
R5538:Cc2d2a	UTSW	5	43,695,176 (GRCm38)	missense	possibly damaging	0.94
R5568:Cc2d2a	UTSW	5	43,709,091 (GRCm38)	missense	probably damaging	0.99
R5618:Cc2d2a	UTSW	5	43,729,907 (GRCm38)	missense	probably benign	0.00
R5653:Cc2d2a	UTSW	5	43,722,462 (GRCm38)	missense	possibly damaging	0.81
R5817:Cc2d2a	UTSW	5	43,712,418 (GRCm38)	missense	probably damaging	1.00
R5858:Cc2d2a	UTSW	5	43,715,775 (GRCm38)	missense	probably damaging	1.00
R5905:Cc2d2a	UTSW	5	43,712,426 (GRCm38)	missense	probably benign
R5912:Cc2d2a	UTSW	5	43,720,430 (GRCm38)	missense	probably damaging	0.97
R6073:Cc2d2a	UTSW	5	43,729,975 (GRCm38)	missense	probably damaging	1.00
R6084:Cc2d2a	UTSW	5	43,668,673 (GRCm38)	missense	probably benign
R6142:Cc2d2a	UTSW	5	43,703,198 (GRCm38)	missense	probably damaging	0.97
R6176:Cc2d2a	UTSW	5	43,709,113 (GRCm38)	missense	probably benign	0.32
R6238:Cc2d2a	UTSW	5	43,671,235 (GRCm38)	missense	probably benign	0.11
R6381:Cc2d2a	UTSW	5	43,715,776 (GRCm38)	missense	possibly damaging	0.69
R6404:Cc2d2a	UTSW	5	43,704,074 (GRCm38)	missense	possibly damaging	0.58
R6455:Cc2d2a	UTSW	5	43,739,412 (GRCm38)	missense	possibly damaging	0.69
R6695:Cc2d2a	UTSW	5	43,718,677 (GRCm38)	missense	probably damaging	0.99
R6805:Cc2d2a	UTSW	5	43,681,331 (GRCm38)	missense	probably damaging	1.00
R6919:Cc2d2a	UTSW	5	43,703,215 (GRCm38)	missense	probably benign	0.19
R6970:Cc2d2a	UTSW	5	43,718,585 (GRCm38)	missense	probably damaging	1.00
R7024:Cc2d2a	UTSW	5	43,733,929 (GRCm38)	missense	probably benign	0.10
R7054:Cc2d2a	UTSW	5	43,699,979 (GRCm38)	nonsense	probably null
R7071:Cc2d2a	UTSW	5	43,709,113 (GRCm38)	missense	probably benign	0.13
R7098:Cc2d2a	UTSW	5	43,683,139 (GRCm38)	missense	probably benign	0.00
R7366:Cc2d2a	UTSW	5	43,729,990 (GRCm38)	missense	probably damaging	1.00
R7908:Cc2d2a	UTSW	5	43,706,846 (GRCm38)	missense	probably benign	0.00
R7920:Cc2d2a	UTSW	5	43,739,309 (GRCm38)	missense	probably benign	0.09
R7950:Cc2d2a	UTSW	5	43,695,296 (GRCm38)	critical splice donor site	probably null
R8007:Cc2d2a	UTSW	5	43,706,100 (GRCm38)	missense	possibly damaging	0.71
R8117:Cc2d2a	UTSW	5	43,712,439 (GRCm38)	missense	probably damaging	1.00
R8123:Cc2d2a	UTSW	5	43,710,554 (GRCm38)	missense	probably benign
R8179:Cc2d2a	UTSW	5	43,699,953 (GRCm38)	missense	probably damaging	0.96
R8279:Cc2d2a	UTSW	5	43,736,145 (GRCm38)	missense	probably benign	0.01
R8293:Cc2d2a	UTSW	5	43,688,228 (GRCm38)	missense	probably damaging	0.97
R8480:Cc2d2a	UTSW	5	43,685,144 (GRCm38)	splice site	probably null
R8482:Cc2d2a	UTSW	5	43,695,239 (GRCm38)	missense	probably damaging	1.00
R8731:Cc2d2a	UTSW	5	43,735,446 (GRCm38)	missense	probably damaging	1.00
R8780:Cc2d2a	UTSW	5	43,739,350 (GRCm38)	missense	probably damaging	1.00
R8784:Cc2d2a	UTSW	5	43,703,303 (GRCm38)	missense	possibly damaging	0.90
R8871:Cc2d2a	UTSW	5	43,699,943 (GRCm38)	missense	possibly damaging	0.71
R8972:Cc2d2a	UTSW	5	43,710,542 (GRCm38)	missense	probably benign
R9122:Cc2d2a	UTSW	5	43,673,739 (GRCm38)	missense	probably null	0.07
R9125:Cc2d2a	UTSW	5	43,703,221 (GRCm38)	missense	probably benign
R9203:Cc2d2a	UTSW	5	43,733,837 (GRCm38)	missense	probably benign	0.01
R9310:Cc2d2a	UTSW	5	43,695,146 (GRCm38)	missense	probably damaging	1.00
R9343:Cc2d2a	UTSW	5	43,718,657 (GRCm38)	missense	probably damaging	1.00
R9353:Cc2d2a	UTSW	5	43,703,349 (GRCm38)	critical splice donor site	probably null
Z1177:Cc2d2a	UTSW	5	43,703,204 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAGCTGGAGCCTTGAGCATCCAC -3'
(R):5'- CGAGAACAGTCTGTGTGACAGTGAG -3'

Sequencing Primer
(F):5'- GAAGATGCTCACACCTTTCAG -3'
(R):5'- TATGTATAGGCAACCGTTCAGAG -3'

Posted On

2013-05-23