Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Cc2d1a'

541459

Institutional Source

Beutler Lab

Gene Symbol

Cc2d1a

Ensembl Gene

ENSMUSG00000036686

Gene Name

coiled-coil and C2 domain containing 1A

Synonyms

Freud-1, Tape

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84132828-84147936 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84135899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 661 (P661T)

Ref Sequence

ENSEMBL: ENSMUSP00000046449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000093380] [ENSMUST00000117424]

AlphaFold

Q8K1A6

Predicted Effect

probably damaging
Transcript: ENSMUST00000040383
AA Change: P661T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686
AA Change: P661T

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: ENSMUST00000093380

SMART Domains

Protein: ENSMUSP00000091073
Gene: ENSMUSG00000012889

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LRRNT	38	71	1.91e0	SMART
LRR	70	89	1.81e2	SMART
LRR	90	115	1.76e-1	SMART
LRR	116	139	1.19e2	SMART
LRR	162	186	1.06e1	SMART
LRR	191	210	5.42e1	SMART
LRR	211	231	1.66e1	SMART
LRR	233	257	3.98e1	SMART
LRR_TYP	258	281	7.9e-4	SMART
LRR	304	328	9.24e1	SMART
LRR_TYP	329	352	4.72e-2	SMART
LRR	375	399	2.61e2	SMART
LRR_TYP	400	423	2.61e-4	SMART
LRR	424	444	3.18e1	SMART
LRR	445	470	3.27e1	SMART
LRR_TYP	471	494	3.63e-3	SMART
LRR	495	515	1.97e1	SMART
LRR	516	541	2.03e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117424
AA Change: P615T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686
AA Change: P615T

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

Meta Mutation Damage Score

0.5372

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
C9	A	T	15: 6,445,464	M35L	probably benign	Het
Dcdc2a	T	A	13: 25,119,366	S293R	probably benign	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gbp11	A	G	5: 105,328,375		probably null	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Mboat1	T	C	13: 30,238,076	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Togaram2	T	C	17: 71,729,188	V891A	probably benign	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Usp2	T	A	9: 44,092,756	V533E	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	probably damaging	Het

Other mutations in Cc2d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01078:Cc2d1a	APN	8	84140265	missense	possibly damaging	0.87
IGL01126:Cc2d1a	APN	8	84143404	missense	probably benign	0.11
IGL01129:Cc2d1a	APN	8	84143404	missense	probably benign	0.11
IGL01133:Cc2d1a	APN	8	84143404	missense	probably benign	0.11
IGL01135:Cc2d1a	APN	8	84143404	missense	probably benign	0.11
IGL01953:Cc2d1a	APN	8	84143978	missense	probably benign	0.00
IGL02216:Cc2d1a	APN	8	84139313	nonsense	probably null
IGL03131:Cc2d1a	APN	8	84143427	missense	probably damaging	1.00
IGL03268:Cc2d1a	APN	8	84133525	missense	probably damaging	1.00
IGL03401:Cc2d1a	APN	8	84134629	missense	probably benign	0.00
Rye	UTSW	8	84134970	missense	probably damaging	1.00
Taragon	UTSW	8	84138537	missense	probably damaging	0.96
R0313:Cc2d1a	UTSW	8	84136969	missense	probably benign	0.38
R0811:Cc2d1a	UTSW	8	84133836	missense	probably benign	0.23
R0812:Cc2d1a	UTSW	8	84133836	missense	probably benign	0.23
R0893:Cc2d1a	UTSW	8	84140839	splice site	probably benign
R1440:Cc2d1a	UTSW	8	84133975	critical splice donor site	probably null
R1625:Cc2d1a	UTSW	8	84139372	missense	probably damaging	1.00
R2183:Cc2d1a	UTSW	8	84140399	missense	probably damaging	1.00
R5155:Cc2d1a	UTSW	8	84141126	missense	probably benign	0.00
R5959:Cc2d1a	UTSW	8	84133503	nonsense	probably null
R6046:Cc2d1a	UTSW	8	84136942	missense	possibly damaging	0.81
R6386:Cc2d1a	UTSW	8	84138537	missense	probably damaging	0.96
R6992:Cc2d1a	UTSW	8	84134913	missense	probably damaging	1.00
R7156:Cc2d1a	UTSW	8	84135760	missense	possibly damaging	0.69
R7396:Cc2d1a	UTSW	8	84143745	splice site	probably null
R7456:Cc2d1a	UTSW	8	84140239	critical splice donor site	probably null
R7787:Cc2d1a	UTSW	8	84133515	missense	possibly damaging	0.94
R8507:Cc2d1a	UTSW	8	84134976	missense	probably benign	0.37
R8808:Cc2d1a	UTSW	8	84134970	missense	probably damaging	1.00
R9524:Cc2d1a	UTSW	8	84144115	missense	probably benign	0.06
R9563:Cc2d1a	UTSW	8	84137129	missense	probably benign	0.14
RF007:Cc2d1a	UTSW	8	84134669	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGAATGATCAGGACCCAG -3'
(R):5'- ATGCCTAGCCCTACATCCTG -3'

Sequencing Primer
(F):5'- AGGCCAGATGTACACTTCCTG -3'
(R):5'- ACATCCTGACTGTGAAGTCTG -3'

Posted On

2018-11-28