Mutagenetix > Incidental Mutation

Incidental Mutation 'R7156:Cc2d1a'

557314

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

045257-MU

Accession Numbers

Essential gene?

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

Stock #

R7156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84859457-84874546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84862389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 684 (V684M)

Ref Sequence

ENSEMBL: ENSMUSP00000046449 (fasta)

Gene Model

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

AlphaFold

Q8K1A6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040383
AA Change: V684M

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686
AA Change: V684M

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

possibly damaging
Transcript: ENSMUST00000117424
AA Change: V638M

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686
AA Change: V638M

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

0.0803

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,643,282 (GRCm39)	I317T	possibly damaging	Het
Acsl5	G	A	19: 55,257,260 (GRCm39)		probably null	Het
Ahrr	G	A	13: 74,378,035 (GRCm39)	T136I	probably damaging	Het
AI597479	G	A	1: 43,150,261 (GRCm39)	D124N	probably damaging	Het
Arap2	G	T	5: 62,761,914 (GRCm39)	A1604D	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cadps2	T	C	6: 23,688,955 (GRCm39)	N118S	probably benign	Het
Caskin1	T	A	17: 24,719,657 (GRCm39)		probably null	Het
Ccdc91	T	C	6: 147,435,676 (GRCm39)	S87P	possibly damaging	Het
Cdr2l	A	G	11: 115,281,792 (GRCm39)	Q99R	probably benign	Het
Celsr3	T	C	9: 108,715,203 (GRCm39)	L2066P	possibly damaging	Het
Cep95	A	C	11: 106,700,050 (GRCm39)	L313F	possibly damaging	Het
Chst10	G	A	1: 38,913,088 (GRCm39)	T63M	probably damaging	Het
Clrn2	G	A	5: 45,611,258 (GRCm39)	G36R	probably damaging	Het
Cnn2	T	G	10: 79,830,349 (GRCm39)	Y273*	probably null	Het
Crtap	T	C	9: 114,207,164 (GRCm39)	T365A	probably benign	Het
D630045J12Rik	T	C	6: 38,171,964 (GRCm39)	T735A	possibly damaging	Het
Disp2	C	T	2: 118,622,292 (GRCm39)	A1008V	probably damaging	Het
Dmrt3	A	G	19: 25,588,317 (GRCm39)	D52G	probably damaging	Het
Dmrta1	T	G	4: 89,576,700 (GRCm39)	L52R	probably damaging	Het
Dmrta2	A	G	4: 109,839,185 (GRCm39)	T311A	probably damaging	Het
Dnm1	T	A	2: 32,230,479 (GRCm39)	N112Y	probably damaging	Het
Dysf	T	C	6: 84,064,858 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,833,229 (GRCm39)	F2034L	unknown	Het
F12	G	A	13: 55,566,310 (GRCm39)	A494V	probably damaging	Het
Fbp2	A	T	13: 62,989,675 (GRCm39)	F210L	probably benign	Het
Fbxo31	T	A	8: 122,281,060 (GRCm39)	Q362L	possibly damaging	Het
Fkbp4	C	T	6: 128,412,787 (GRCm39)	A95T	probably benign	Het
Frmd6	T	G	12: 70,923,983 (GRCm39)	C80W	probably damaging	Het
Fsip2	A	G	2: 82,813,085 (GRCm39)	I3135V	probably benign	Het
Garre1	G	T	7: 33,945,133 (GRCm39)	N582K	possibly damaging	Het
Guca2b	T	A	4: 119,514,887 (GRCm39)	E34V	probably damaging	Het
Hdlbp	G	A	1: 93,341,637 (GRCm39)	T974I	probably damaging	Het
Hsdl2	T	A	4: 59,617,653 (GRCm39)	M460K	possibly damaging	Het
Ift172	C	T	5: 31,429,419 (GRCm39)	V581M	probably damaging	Het
Ift74	A	G	4: 94,549,189 (GRCm39)	K313R	possibly damaging	Het
Ints4	T	A	7: 97,184,493 (GRCm39)		probably null	Het
Iqca1l	C	T	5: 24,757,648 (GRCm39)	E150K	probably benign	Het
Kif21b	A	C	1: 136,075,562 (GRCm39)	T230P	probably damaging	Het
Kit	A	T	5: 75,776,034 (GRCm39)	Y272F	probably benign	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lce1j	T	A	3: 92,696,491 (GRCm39)	S96C	unknown	Het
Marveld3	T	A	8: 110,674,820 (GRCm39)	D332V	probably damaging	Het
Matr3	G	T	18: 35,705,974 (GRCm39)	V300F	probably damaging	Het
Mical1	T	A	10: 41,361,253 (GRCm39)		probably null	Het
Mslnl	T	A	17: 25,962,184 (GRCm39)	V194E	probably benign	Het
Mug1	C	A	6: 121,857,864 (GRCm39)	T1119K	probably damaging	Het
Mug1	C	T	6: 121,861,302 (GRCm39)	P1308S	probably damaging	Het
Neb	C	A	2: 52,195,295 (GRCm39)		probably null	Het
Neo1	T	A	9: 58,810,206 (GRCm39)	T1082S	probably damaging	Het
Nkx6-2	C	T	7: 139,162,045 (GRCm39)		probably null	Het
Or10g6	T	C	9: 39,934,526 (GRCm39)	I279T	probably benign	Het
Or8k27	T	A	2: 86,275,652 (GRCm39)	I225L	probably damaging	Het
Orc1	A	T	4: 108,452,656 (GRCm39)	E177V	probably benign	Het
Parp1	G	A	1: 180,426,629 (GRCm39)	V924I	possibly damaging	Het
Pax2	A	T	19: 44,777,298 (GRCm39)	I165F	probably benign	Het
Pnma2	C	T	14: 67,153,980 (GRCm39)	P135S	probably benign	Het
Ranbp17	A	G	11: 33,247,420 (GRCm39)	I718T	probably damaging	Het
Rbm25	T	A	12: 83,710,965 (GRCm39)	D359E	unknown	Het
Rgs3	T	C	4: 62,535,363 (GRCm39)	L194P	probably damaging	Het
Serpinb6b	A	G	13: 33,155,598 (GRCm39)	I104V	probably benign	Het
Smg9	A	G	7: 24,120,286 (GRCm39)	D420G	probably benign	Het
Smpd1	C	T	7: 105,203,693 (GRCm39)		probably benign	Het
Snx17	T	A	5: 31,354,692 (GRCm39)	M318K	probably damaging	Het
Spata31e5	A	T	1: 28,815,848 (GRCm39)	M728K	possibly damaging	Het
Stard10	G	A	7: 100,995,258 (GRCm39)	D337N	probably damaging	Het
Tex14	A	G	11: 87,375,545 (GRCm39)	T103A	probably damaging	Het
Tle1	A	G	4: 72,088,953 (GRCm39)	S97P	probably benign	Het
Tnfrsf8	T	A	4: 145,041,654 (GRCm39)	M1L	unknown	Het
Traf3ip2	T	C	10: 39,502,173 (GRCm39)	L107P	possibly damaging	Het
Trpc7	A	T	13: 56,937,579 (GRCm39)	S626T	possibly damaging	Het
Ubl7	T	A	9: 57,837,039 (GRCm39)	I350N	probably damaging	Het
Ubr3	T	A	2: 69,851,967 (GRCm39)	I1878N	probably damaging	Het
Usp24	G	T	4: 106,245,116 (GRCm39)		probably null	Het
Vcan	A	T	13: 89,837,229 (GRCm39)	S2772T	possibly damaging	Het
Vmn2r79	T	C	7: 86,686,851 (GRCm39)	V744A	probably damaging	Het
Wbp2nl	T	C	15: 82,189,903 (GRCm39)	S32P	probably damaging	Het
Wwc1	A	G	11: 35,788,201 (GRCm39)		probably null	Het
Zfp629	C	T	7: 127,211,463 (GRCm39)	W115*	probably null	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
R0893:Cc2d1a	UTSW	8	84,867,468 (GRCm39)	splice site	probably benign
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
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'- GTAGATTTCCACTGTGGCCC -3'
(R):5'- GAGCAACAGTGACATGCTCCTG -3'

Sequencing Primer
(F):5'- CCACTGTGGCCCTAGGTTTAG -3'
(R):5'- CCTGTTTATCGTGAAGGGCATCAAC -3'

Posted On

2019-06-26