Mutagenetix > Incidental Mutation

Incidental Mutation 'R7821:C2cd6'

601844

Institutional Source

Beutler Lab

Gene Symbol

C2cd6

Ensembl Gene

ENSMUSG00000072295

Gene Name

C2 calcium dependent domain containing 6

Synonyms

Als2cr11, C2cd6b, Gm33589, 1700052H20Rik, Als2cr11b, 4930408G06Rik

MMRRC Submission

045875-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R7821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59036275-59134059 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 59106951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 291 (Y291*)

Ref Sequence

ENSEMBL: ENSMUSP00000094845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097080]

AlphaFold

A0A5F8MPU3

Predicted Effect

probably null
Transcript: ENSMUST00000097080
AA Change: Y291*

SMART Domains

Protein: ENSMUSP00000094845
Gene: ENSMUSG00000072295
AA Change: Y291*

Domain	Start	End	E-Value	Type
low complexity region	99	126	N/A	INTRINSIC
Pfam:ALS2CR11	128	533	1.2e-180	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,120,929 (GRCm39)	T112S	probably damaging	Het
Abca12	G	T	1: 71,298,950 (GRCm39)	S2320R	probably benign	Het
Abca7	TGGTGCGTGAG	TG	10: 79,838,424 (GRCm39)		probably benign	Het
Adh7	T	A	3: 137,932,136 (GRCm39)	I250N	probably damaging	Het
Albfm1	T	C	5: 90,740,747 (GRCm39)	V560A	possibly damaging	Het
Aoc1	T	A	6: 48,882,745 (GRCm39)	I229N	probably damaging	Het
Cacnb4	T	C	2: 52,324,520 (GRCm39)	D514G	possibly damaging	Het
Ccdc202	A	G	14: 96,119,486 (GRCm39)	Q81R	possibly damaging	Het
Clec2g	A	G	6: 128,925,740 (GRCm39)	T50A	probably benign	Het
Col6a5	T	C	9: 105,741,458 (GRCm39)	E2487G	probably damaging	Het
D130040H23Rik	A	T	8: 69,752,887 (GRCm39)		probably null	Het
D6Ertd527e	G	A	6: 87,087,879 (GRCm39)	S14N	unknown	Het
Dchs1	G	A	7: 105,414,352 (GRCm39)	T821I	probably benign	Het
Dhcr24	T	C	4: 106,428,633 (GRCm39)	S138P	possibly damaging	Het
Dhrs9	G	A	2: 69,224,782 (GRCm39)	G157R	probably damaging	Het
Dnah5	T	A	15: 28,411,678 (GRCm39)	D3682E	possibly damaging	Het
Dst	T	C	1: 34,314,443 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,403,261 (GRCm39)	H4L	probably benign	Het
Flnb	A	G	14: 7,939,113 (GRCm38)	I2319V	probably benign	Het
Foxe1	T	C	4: 46,344,578 (GRCm39)	W129R	probably damaging	Het
Foxred2	G	A	15: 77,827,550 (GRCm39)	P603L	probably benign	Het
Fshr	A	G	17: 89,293,641 (GRCm39)	S346P	probably damaging	Het
Galnt2	T	A	8: 125,070,134 (GRCm39)	S550R	possibly damaging	Het
Gpc2	A	G	5: 138,274,559 (GRCm39)	S312P	probably benign	Het
Gpr150	C	A	13: 76,204,511 (GRCm39)	A145S	probably benign	Het
Grk4	T	A	5: 34,867,553 (GRCm39)	W173R	probably damaging	Het
Hoxb9	C	G	11: 96,162,537 (GRCm39)	P57R	probably damaging	Het
Hsf5	A	G	11: 87,528,954 (GRCm39)	Q563R	probably benign	Het
Ighv1-58	A	G	12: 115,275,796 (GRCm39)	F114S	possibly damaging	Het
Klra9	T	A	6: 130,162,563 (GRCm39)	I158F	probably damaging	Het
Lrrc8d	T	C	5: 105,960,210 (GRCm39)	S207P	probably damaging	Het
Nbeal2	T	C	9: 110,459,320 (GRCm39)	E1929G	probably damaging	Het
Ncoa1	A	G	12: 4,346,221 (GRCm39)	M89T	probably benign	Het
Nkx2-4	T	C	2: 146,927,208 (GRCm39)	I20V	probably benign	Het
Nup214	T	C	2: 31,916,917 (GRCm39)	S1191P	possibly damaging	Het
Or2n1d	A	G	17: 38,646,855 (GRCm39)	D269G	probably benign	Het
Pfkp	T	A	13: 6,647,908 (GRCm39)	N556I	probably damaging	Het
Pidd1	A	T	7: 141,022,193 (GRCm39)	S199T	probably benign	Het
Pik3r2	T	A	8: 71,222,408 (GRCm39)	I515F	probably damaging	Het
Plcxd2	T	A	16: 45,785,524 (GRCm39)	I294F	probably damaging	Het
Prmt6	C	A	3: 110,158,303 (GRCm39)		probably benign	Het
Prpf8	A	G	11: 75,385,300 (GRCm39)	I812V	probably benign	Het
Rasa2	T	C	9: 96,462,537 (GRCm39)		probably null	Het
Rsad1	A	C	11: 94,435,288 (GRCm39)	D266E	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Shroom3	T	A	5: 93,088,705 (GRCm39)	V485E	probably damaging	Het
Siae	T	A	9: 37,556,196 (GRCm39)	Y451N	probably damaging	Het
Slc7a11	A	T	3: 50,335,476 (GRCm39)	I354N	probably damaging	Het
Spryd7	A	T	14: 61,783,129 (GRCm39)		probably null	Het
Srcap	A	G	7: 127,129,499 (GRCm39)		probably benign	Het
Svep1	T	A	4: 58,179,601 (GRCm39)	D214V	probably damaging	Het
Tmtc4	T	C	14: 123,209,289 (GRCm39)	I119V	probably benign	Het
Trim5	G	A	7: 103,927,633 (GRCm39)	T169I	probably benign	Het
Ttc33	T	C	15: 5,241,506 (GRCm39)	F83S	probably benign	Het
Ubr5	A	T	15: 37,997,431 (GRCm39)	S1741T	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdcp	A	G	12: 4,907,975 (GRCm39)	N694S	probably benign	Het
Zfp174	T	A	16: 3,666,041 (GRCm39)	I102N	probably damaging	Het
Zfp354a	T	C	11: 50,960,539 (GRCm39)	F248S	probably damaging	Het
Zfyve26	A	T	12: 79,302,098 (GRCm39)	C404S	probably damaging	Het
Zmynd8	A	T	2: 165,723,000 (GRCm39)		probably benign	Het

Other mutations in C2cd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:C2cd6	APN	1	59,117,104 (GRCm39)	missense	probably damaging	0.97
IGL01012:C2cd6	APN	1	59,036,507 (GRCm39)	unclassified	probably benign
IGL01682:C2cd6	APN	1	59,101,660 (GRCm39)	missense	probably damaging	1.00
IGL01834:C2cd6	APN	1	59,036,604 (GRCm39)	unclassified	probably benign
IGL01982:C2cd6	APN	1	59,106,932 (GRCm39)	splice site	probably benign
IGL02027:C2cd6	APN	1	59,099,763 (GRCm39)	missense	probably benign	0.12
IGL02069:C2cd6	APN	1	59,091,700 (GRCm39)	splice site	probably benign
IGL02232:C2cd6	APN	1	59,101,651 (GRCm39)	missense	probably damaging	0.99
IGL02280:C2cd6	APN	1	59,117,040 (GRCm39)	critical splice donor site	probably null
IGL02392:C2cd6	APN	1	59,133,997 (GRCm39)	missense	probably benign	0.00
IGL02440:C2cd6	APN	1	59,114,259 (GRCm39)	missense	probably benign	0.14
IGL02469:C2cd6	APN	1	59,036,640 (GRCm39)	unclassified	probably benign
IGL02660:C2cd6	APN	1	59,090,389 (GRCm39)	missense	probably damaging	1.00
IGL02720:C2cd6	APN	1	59,090,307 (GRCm39)	missense	probably damaging	0.98
IGL03340:C2cd6	APN	1	59,115,830 (GRCm39)	missense	probably benign	0.07
R1472:C2cd6	UTSW	1	59,106,944 (GRCm39)	missense	possibly damaging	0.92
R1476:C2cd6	UTSW	1	59,115,887 (GRCm39)	splice site	probably benign
R1753:C2cd6	UTSW	1	59,133,992 (GRCm39)	missense	possibly damaging	0.53
R2009:C2cd6	UTSW	1	59,042,391 (GRCm39)	exon	noncoding transcript
R3724:C2cd6	UTSW	1	59,105,394 (GRCm39)	splice site	probably benign
R4887:C2cd6	UTSW	1	59,133,893 (GRCm39)	missense	probably benign	0.00
R5115:C2cd6	UTSW	1	59,090,420 (GRCm39)	missense	probably benign	0.12
R5335:C2cd6	UTSW	1	59,043,393 (GRCm39)	unclassified	noncoding transcript
R6406:C2cd6	UTSW	1	59,097,835 (GRCm39)	missense	possibly damaging	0.60
R6467:C2cd6	UTSW	1	59,117,093 (GRCm39)	missense	probably benign	0.01
R6697:C2cd6	UTSW	1	59,090,247 (GRCm39)	small deletion	probably benign
R6801:C2cd6	UTSW	1	59,133,742 (GRCm39)	frame shift	probably null
R6882:C2cd6	UTSW	1	59,105,318 (GRCm39)	missense	probably damaging	0.99
R7468:C2cd6	UTSW	1	59,107,844 (GRCm39)	missense	probably benign
R8338:C2cd6	UTSW	1	59,099,734 (GRCm39)	missense	probably benign	0.00
R8368:C2cd6	UTSW	1	59,133,820 (GRCm39)	missense	probably benign	0.33
R8768:C2cd6	UTSW	1	59,105,312 (GRCm39)	missense	probably benign	0.40
R8774:C2cd6	UTSW	1	59,099,825 (GRCm39)	missense	possibly damaging	0.82
R8774-TAIL:C2cd6	UTSW	1	59,099,825 (GRCm39)	missense	possibly damaging	0.82
R8970:C2cd6	UTSW	1	59,108,895 (GRCm39)	missense	possibly damaging	0.93
R9617:C2cd6	UTSW	1	59,097,848 (GRCm39)	missense	probably benign	0.40
R9700:C2cd6	UTSW	1	59,117,089 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGAAACACCTGACATTGCTTC -3'
(R):5'- GAGGCTTTTAACTTTCTGGGAAC -3'

Sequencing Primer
(F):5'- GTCTGAACCATGCCATCAGG -3'
(R):5'- GGCTTTTAACTTTCTGGGAACTGAAC -3'

Posted On

2019-12-03