Mutagenetix > Incidental Mutation

Incidental Mutation 'R0893:Cc2d1a'

83588

Institutional Source

Beutler Lab

Gene Symbol

Cc2d1a

Ensembl Gene

ENSMUSG00000036686

Gene Name

coiled-coil and C2 domain containing 1A

Synonyms

Tape, Freud-1

MMRRC Submission

039056-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

R0893 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

84859457-84874546 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 84867468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000117424]

AlphaFold

Q8K1A6

Predicted Effect

probably benign
Transcript: ENSMUST00000040383

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
DM14	137	194	1.02e-14	SMART
low complexity region	195	206	N/A	INTRINSIC
low complexity region	229	238	N/A	INTRINSIC
DM14	250	308	8.7e-23	SMART
DM14	342	400	7.44e-31	SMART
low complexity region	457	478	N/A	INTRINSIC
DM14	487	545	4.62e-27	SMART
C2	649	763	5.08e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117424

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
DM14	205	263	8.7e-23	SMART
DM14	297	355	7.44e-31	SMART
low complexity region	411	432	N/A	INTRINSIC
DM14	441	499	4.62e-27	SMART
C2	603	717	5.08e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154029

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,266,082 (GRCm39)		probably benign	Het
Adnp	A	T	2: 168,025,647 (GRCm39)	F549L	possibly damaging	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Aldh8a1	T	A	10: 21,267,593 (GRCm39)	M326K	probably benign	Het
Amdhd1	A	T	10: 93,363,513 (GRCm39)	M295K	probably damaging	Het
Arhgef4	T	A	1: 34,846,191 (GRCm39)	C324S	probably damaging	Het
Car8	A	T	4: 8,238,119 (GRCm39)		probably null	Het
Cd81	G	A	7: 142,616,242 (GRCm39)	V27M	possibly damaging	Het
Ces1b	A	T	8: 93,806,056 (GRCm39)	S62T	probably benign	Het
Cfb	A	G	17: 35,077,031 (GRCm39)	S30P	probably damaging	Het
Cmtm3	A	G	8: 105,070,543 (GRCm39)	M101V	possibly damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Ddb1	C	T	19: 10,590,280 (GRCm39)	S269L	probably benign	Het
Ddx25	G	A	9: 35,465,686 (GRCm39)	Q143*	probably null	Het
Dis3l2	T	A	1: 86,971,928 (GRCm39)		probably null	Het
Dlgap4	G	T	2: 156,587,898 (GRCm39)	E598*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Elp4	C	A	2: 105,727,290 (GRCm39)		probably benign	Het
Eya3	A	G	4: 132,417,097 (GRCm39)	N194S	probably benign	Het
Golgb1	G	T	16: 36,732,639 (GRCm39)	V629L	possibly damaging	Het
Hars2	G	A	18: 36,920,648 (GRCm39)	A164T	possibly damaging	Het
Hexb	T	A	13: 97,322,135 (GRCm39)	I217L	probably benign	Het
Hgh1	A	G	15: 76,253,848 (GRCm39)		probably null	Het
Hsd3b3	A	T	3: 98,649,757 (GRCm39)		probably null	Het
Ighg2c	T	A	12: 113,251,053 (GRCm39)	N321Y	unknown	Het
Il5	A	G	11: 53,611,763 (GRCm39)	T34A	probably benign	Het
Jph1	C	A	1: 17,074,507 (GRCm39)	E504*	probably null	Het
Kif2b	G	T	11: 91,466,420 (GRCm39)	T621K	probably benign	Het
Kmt2c	A	T	5: 25,556,268 (GRCm39)		probably benign	Het
Leprotl1	A	G	8: 34,606,006 (GRCm39)		probably null	Het
Lpar3	C	T	3: 145,946,348 (GRCm39)	R9C	possibly damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Map2	C	A	1: 66,419,927 (GRCm39)	T86K	probably damaging	Het
Map7	A	G	10: 20,149,629 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,701,713 (GRCm39)	V1482A	probably benign	Het
Mks1	G	A	11: 87,747,777 (GRCm39)		probably benign	Het
Morf4l1	T	G	9: 89,984,403 (GRCm39)	K102N	probably damaging	Het
Mroh1	T	A	15: 76,293,138 (GRCm39)	V304D	possibly damaging	Het
Mtg1	G	A	7: 139,729,665 (GRCm39)	V252M	probably damaging	Het
Myh13	A	T	11: 67,225,427 (GRCm39)	D264V	probably damaging	Het
Myh2	A	G	11: 67,077,334 (GRCm39)	Y823C	possibly damaging	Het
Myoz1	A	T	14: 20,701,252 (GRCm39)	S112R	probably benign	Het
Ncapd2	A	G	6: 125,150,445 (GRCm39)	V860A	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Npffr1	T	C	10: 61,450,010 (GRCm39)	F95L	possibly damaging	Het
Or51f1e	G	T	7: 102,747,641 (GRCm39)	R231L	probably benign	Het
Or8b9	T	C	9: 37,766,492 (GRCm39)	I126T	probably damaging	Het
Orc4	A	C	2: 48,822,622 (GRCm39)		probably benign	Het
P3h3	A	C	6: 124,822,476 (GRCm39)	I565R	probably damaging	Het
Pak4	T	C	7: 28,259,202 (GRCm39)	D552G	probably benign	Het
Pcdhb4	G	T	18: 37,442,423 (GRCm39)		probably null	Het
Pdcd4	G	T	19: 53,917,525 (GRCm39)	R454L	probably damaging	Het
Phf8-ps	T	C	17: 33,284,263 (GRCm39)	I846M	probably benign	Het
Pkd1l2	A	G	8: 117,771,231 (GRCm39)	I1116T	probably damaging	Het
Plcb2	A	G	2: 118,555,586 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,230 (GRCm39)		probably benign	Het
Pnpla7	T	A	2: 24,887,252 (GRCm39)	I32N	probably damaging	Het
Prpf8	A	G	11: 75,384,775 (GRCm39)	K718E	probably damaging	Het
Racgap1	C	T	15: 99,524,411 (GRCm39)	A359T	probably benign	Het
Rgs3	G	A	4: 62,523,798 (GRCm39)		probably null	Het
Rhpn1	A	G	15: 75,583,503 (GRCm39)	E356G	probably damaging	Het
Rps6ka5	T	C	12: 100,540,697 (GRCm39)	H488R	possibly damaging	Het
Scn11a	A	G	9: 119,632,396 (GRCm39)		probably null	Het
Sema4f	A	T	6: 82,912,948 (GRCm39)		probably benign	Het
Serpina1f	A	G	12: 103,660,094 (GRCm39)	S63P	probably damaging	Het
Slc9a3	T	C	13: 74,307,365 (GRCm39)	W386R	probably damaging	Het
Slc9b1	A	C	3: 135,100,651 (GRCm39)	L465F	probably benign	Het
Smc5	A	G	19: 23,241,017 (GRCm39)	V165A	possibly damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tinagl1	G	T	4: 130,067,816 (GRCm39)	D59E	probably damaging	Het
Tns3	A	G	11: 8,443,302 (GRCm39)	Y354H	probably damaging	Het
Trappc9	C	T	15: 72,461,956 (GRCm39)	G1103D	probably damaging	Het
Unc79	A	T	12: 102,957,687 (GRCm39)	D34V	probably damaging	Het
Unc80	T	C	1: 66,560,645 (GRCm39)	L791P	probably damaging	Het
Unc93a2	A	G	17: 7,641,926 (GRCm39)	L174P	probably damaging	Het
Xpo7	G	T	14: 70,903,537 (GRCm39)		probably benign	Het
Zbtb1	T	A	12: 76,432,113 (GRCm39)	I33N	probably damaging	Het

Other mutations in Cc2d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01078:Cc2d1a	APN	8	84,866,894 (GRCm39)	missense	possibly damaging	0.87
IGL01126:Cc2d1a	APN	8	84,870,033 (GRCm39)	missense	probably benign	0.11
IGL01129:Cc2d1a	APN	8	84,870,033 (GRCm39)	missense	probably benign	0.11
IGL01133:Cc2d1a	APN	8	84,870,033 (GRCm39)	missense	probably benign	0.11
IGL01135:Cc2d1a	APN	8	84,870,033 (GRCm39)	missense	probably benign	0.11
IGL01953:Cc2d1a	APN	8	84,870,607 (GRCm39)	missense	probably benign	0.00
IGL02216:Cc2d1a	APN	8	84,865,942 (GRCm39)	nonsense	probably null
IGL03131:Cc2d1a	APN	8	84,870,056 (GRCm39)	missense	probably damaging	1.00
IGL03268:Cc2d1a	APN	8	84,860,154 (GRCm39)	missense	probably damaging	1.00
IGL03401:Cc2d1a	APN	8	84,861,258 (GRCm39)	missense	probably benign	0.00
Rye	UTSW	8	84,861,599 (GRCm39)	missense	probably damaging	1.00
Taragon	UTSW	8	84,865,166 (GRCm39)	missense	probably damaging	0.96
R0313:Cc2d1a	UTSW	8	84,863,598 (GRCm39)	missense	probably benign	0.38
R0811:Cc2d1a	UTSW	8	84,860,465 (GRCm39)	missense	probably benign	0.23
R0812:Cc2d1a	UTSW	8	84,860,465 (GRCm39)	missense	probably benign	0.23
R1440:Cc2d1a	UTSW	8	84,860,604 (GRCm39)	critical splice donor site	probably null
R1625:Cc2d1a	UTSW	8	84,866,001 (GRCm39)	missense	probably damaging	1.00
R2183:Cc2d1a	UTSW	8	84,867,028 (GRCm39)	missense	probably damaging	1.00
R5155:Cc2d1a	UTSW	8	84,867,755 (GRCm39)	missense	probably benign	0.00
R5959:Cc2d1a	UTSW	8	84,860,132 (GRCm39)	nonsense	probably null
R6046:Cc2d1a	UTSW	8	84,863,571 (GRCm39)	missense	possibly damaging	0.81
R6386:Cc2d1a	UTSW	8	84,865,166 (GRCm39)	missense	probably damaging	0.96
R6956:Cc2d1a	UTSW	8	84,862,528 (GRCm39)	missense	probably damaging	1.00
R6992:Cc2d1a	UTSW	8	84,861,542 (GRCm39)	missense	probably damaging	1.00
R7156:Cc2d1a	UTSW	8	84,862,389 (GRCm39)	missense	possibly damaging	0.69
R7396:Cc2d1a	UTSW	8	84,870,374 (GRCm39)	splice site	probably null
R7456:Cc2d1a	UTSW	8	84,866,868 (GRCm39)	critical splice donor site	probably null
R7787:Cc2d1a	UTSW	8	84,860,144 (GRCm39)	missense	possibly damaging	0.94
R8507:Cc2d1a	UTSW	8	84,861,605 (GRCm39)	missense	probably benign	0.37
R8808:Cc2d1a	UTSW	8	84,861,599 (GRCm39)	missense	probably damaging	1.00
R9524:Cc2d1a	UTSW	8	84,870,744 (GRCm39)	missense	probably benign	0.06
R9563:Cc2d1a	UTSW	8	84,863,758 (GRCm39)	missense	probably benign	0.14
RF007:Cc2d1a	UTSW	8	84,861,298 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGTCTGGAGACGGAATACAAC -3'
(R):5'- TCAGGATGACACTGCTACAGCCAC -3'

Sequencing Primer
(F):5'- TACAACTCAGTGAGGGGCTTG -3'
(R):5'- ATAGCTAAGGTGGGTCTCAGC -3'

Posted On

2013-11-08