Mutagenetix > Incidental Mutation

Incidental Mutation 'R2081:C2cd4b'

229495

Institutional Source

Beutler Lab

Gene Symbol

C2cd4b

Ensembl Gene

ENSMUSG00000091956

Gene Name

C2 calcium-dependent domain containing 4B

Synonyms

3300001A09Rik, Fam148b

MMRRC Submission

040086-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2081 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

67666719-67668212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67667859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 285 (R285L)

Ref Sequence

ENSEMBL: ENSMUSP00000131138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171652]

AlphaFold

Q80XU5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000068526

SMART Domains

Protein: ENSMUSP00000064378
Gene: ENSMUSG00000055125

Domain	Start	End	E-Value	Type
low complexity region	30	64	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171652
AA Change: R285L

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

SMART Domains

Protein: ENSMUSP00000131138
Gene: ENSMUSG00000091956
AA Change: R285L

Domain	Start	End	E-Value	Type
low complexity region	37	50	N/A	INTRINSIC
low complexity region	174	195	N/A	INTRINSIC
low complexity region	201	214	N/A	INTRINSIC
low complexity region	245	251	N/A	INTRINSIC
Blast:C2	252	325	2e-11	BLAST
low complexity region	327	340	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196844

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,211,085 (GRCm39)	T28A	possibly damaging	Het
Actl11	G	A	9: 107,807,396 (GRCm39)	G573D	probably benign	Het
Adam39	T	A	8: 41,279,879 (GRCm39)	*757K	probably null	Het
Agpat4	T	C	17: 12,370,771 (GRCm39)	I38T	possibly damaging	Het
Ap3d1	A	C	10: 80,568,770 (GRCm39)	I36S	probably damaging	Het
Arhgap45	T	C	10: 79,863,508 (GRCm39)	F784L	probably damaging	Het
Atg5lrt	T	C	10: 95,972,601 (GRCm39)	I46T	possibly damaging	Het
Atp10b	T	A	11: 43,092,955 (GRCm39)	I430N	probably damaging	Het
Atrip	T	A	9: 108,901,807 (GRCm39)		probably null	Het
Camta1	T	C	4: 151,228,699 (GRCm39)	E711G	probably benign	Het
Clcn6	T	C	4: 148,095,525 (GRCm39)	Y685C	probably damaging	Het
Col18a1	T	A	10: 76,890,019 (GRCm39)	D1447V	probably damaging	Het
Crispld1	T	A	1: 17,832,403 (GRCm39)	V463D	probably damaging	Het
Crybg2	T	G	4: 133,816,131 (GRCm39)	F1612V	possibly damaging	Het
Dclk1	T	C	3: 55,429,346 (GRCm39)		probably null	Het
Ddx46	G	T	13: 55,821,829 (GRCm39)	V834L	probably benign	Het
Dnah10	A	G	5: 124,852,045 (GRCm39)	D1734G	possibly damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Ect2l	T	C	10: 18,041,275 (GRCm39)	E301G	probably damaging	Het
Elf3	C	T	1: 135,184,814 (GRCm39)	C124Y	probably benign	Het
Eno2	A	G	6: 124,740,088 (GRCm39)	V316A	probably damaging	Het
Erap1	A	G	13: 74,823,426 (GRCm39)	E820G	possibly damaging	Het
Evpl	A	T	11: 116,125,092 (GRCm39)	H123Q	probably damaging	Het
Fat2	T	A	11: 55,200,503 (GRCm39)	Y857F	possibly damaging	Het
Fbrsl1	T	A	5: 110,519,491 (GRCm39)		probably null	Het
Fbxw7	A	G	3: 84,881,820 (GRCm39)	D432G	probably damaging	Het
Flt1	A	T	5: 147,576,232 (GRCm39)	L592Q	probably damaging	Het
Gm14496	T	A	2: 181,642,272 (GRCm39)	C648S	probably damaging	Het
Gm5150	A	T	3: 16,045,109 (GRCm39)	S39T	probably benign	Het
Gse1	C	A	8: 121,293,219 (GRCm39)	P177Q	probably damaging	Het
Heatr4	G	A	12: 84,027,096 (GRCm39)	R54W	probably damaging	Het
Hpgd	C	A	8: 56,760,677 (GRCm39)	Q125K	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Mast2	A	T	4: 116,187,671 (GRCm39)		probably null	Het
Mfsd11	A	G	11: 116,752,381 (GRCm39)	T177A	possibly damaging	Het
Mlx	T	C	11: 100,978,257 (GRCm39)	S36P	probably benign	Het
Mlxipl	T	A	5: 135,142,492 (GRCm39)	V102D	probably damaging	Het
Mms22l	T	C	4: 24,536,150 (GRCm39)	Y540H	probably damaging	Het
Msc	T	C	1: 14,825,941 (GRCm39)	D11G	probably benign	Het
Muc4	C	G	16: 32,574,020 (GRCm39)	S699R	probably benign	Het
Nckap1l	T	C	15: 103,405,881 (GRCm39)	S1106P	probably damaging	Het
Obscn	T	C	11: 58,925,008 (GRCm39)	E5703G	possibly damaging	Het
Or2ag1	A	G	7: 106,313,405 (GRCm39)	M161T	probably benign	Het
Pabpn1	A	G	14: 55,133,115 (GRCm39)	K38E	probably damaging	Het
Padi3	A	T	4: 140,526,290 (GRCm39)	L141Q	probably damaging	Het
Pakap	G	A	4: 57,855,927 (GRCm39)	E419K	possibly damaging	Het
Pde3b	A	G	7: 114,122,657 (GRCm39)	N742D	probably benign	Het
Pex1	T	A	5: 3,674,132 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,608,077 (GRCm39)	V192A	probably benign	Het
Ppp6r2	T	A	15: 89,166,332 (GRCm39)	M750K	probably benign	Het
Prdm15	A	T	16: 97,604,980 (GRCm39)	Y783*	probably null	Het
Prox2	T	A	12: 85,141,782 (GRCm39)	Q140H	probably damaging	Het
Psg27	A	T	7: 18,290,883 (GRCm39)	I440K	probably damaging	Het
Pzp	A	G	6: 128,496,383 (GRCm39)	M283T	probably benign	Het
Sec23a	G	A	12: 59,045,067 (GRCm39)	Q192*	probably null	Het
Sh2b1	A	G	7: 126,071,862 (GRCm39)	S108P	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tkfc	G	A	19: 10,574,742 (GRCm39)	A166V	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Trim47	A	G	11: 115,997,239 (GRCm39)	F505S	probably damaging	Het
Tti2	T	C	8: 31,641,337 (GRCm39)	F154L	possibly damaging	Het
Ubap2l	C	T	3: 89,946,271 (GRCm39)	G111D	possibly damaging	Het
Usp9y	A	T	Y: 1,381,277 (GRCm39)	I848N	possibly damaging	Het
Veph1	T	C	3: 65,968,523 (GRCm39)	Y740C	probably damaging	Het
Vmn2r114	T	A	17: 23,510,083 (GRCm39)	H799L	possibly damaging	Het
Wdr31	T	A	4: 62,374,180 (GRCm39)	M270L	probably benign	Het
Zfp26	A	G	9: 20,347,913 (GRCm39)	S884P	probably benign	Het
Zswim6	T	A	13: 107,909,930 (GRCm39)		noncoding transcript	Het

Other mutations in C2cd4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0592:C2cd4b	UTSW	9	67,667,973 (GRCm39)	missense	probably damaging	1.00
R0625:C2cd4b	UTSW	9	67,667,033 (GRCm39)	missense	probably benign	0.27
R6999:C2cd4b	UTSW	9	67,667,571 (GRCm39)	missense	probably benign	0.38
R7329:C2cd4b	UTSW	9	67,667,419 (GRCm39)	missense	possibly damaging	0.61
R9210:C2cd4b	UTSW	9	67,667,028 (GRCm39)	missense	probably damaging	0.99
R9212:C2cd4b	UTSW	9	67,667,028 (GRCm39)	missense	probably damaging	0.99
X0021:C2cd4b	UTSW	9	67,667,124 (GRCm39)	missense	probably benign	0.00
Z1177:C2cd4b	UTSW	9	67,667,081 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATCGGACTCTGAGCTCG -3'
(R):5'- CGCTCATAGCAGTAGCAGAG -3'

Sequencing Primer
(F):5'- AGCGCCTGCAAGCTGAAG -3'
(R):5'- CAGAGAGCCCAGCAGCAG -3'

Posted On

2014-09-17