Mutagenetix > Incidental Mutation

Incidental Mutation 'R0592:C2cd4b'

172367

Institutional Source

Beutler Lab

Gene Symbol

C2cd4b

Ensembl Gene

ENSMUSG00000091956

Gene Name

C2 calcium-dependent domain containing 4B

Synonyms

3300001A09Rik, Fam148b

MMRRC Submission

038782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0592 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

67666719-67668212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67667973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 323 (R323H)

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: R323H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131138
Gene: ENSMUSG00000091956
AA Change: R323H

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,295,037 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,664,446 (GRCm39)	V53D	probably benign	Het
Bglap	T	A	3: 88,290,962 (GRCm39)	I90F	probably benign	Het
Cdh5	T	A	8: 104,857,534 (GRCm39)		probably null	Het
Cdh8	T	A	8: 100,006,110 (GRCm39)	D159V	probably damaging	Het
Dnah7a	A	G	1: 53,495,771 (GRCm39)	Y3229H	possibly damaging	Het
Dzip1	T	C	14: 119,139,551 (GRCm39)	E381G	probably damaging	Het
Elmod1	A	G	9: 53,833,390 (GRCm39)		probably benign	Het
Exosc10	T	C	4: 148,665,570 (GRCm39)	S811P	probably benign	Het
Fhl3	A	G	4: 124,599,470 (GRCm39)	Y15C	probably benign	Het
Gstz1	G	A	12: 87,210,495 (GRCm39)	S126N	probably benign	Het
Hey2	C	A	10: 30,709,953 (GRCm39)	A267S	probably benign	Het
Iqce	A	T	5: 140,671,862 (GRCm39)		probably null	Het
Katnal2	A	T	18: 77,090,256 (GRCm39)		probably null	Het
Kdm2b	G	A	5: 123,099,197 (GRCm39)		probably benign	Het
Mov10l1	A	G	15: 88,882,969 (GRCm39)		probably null	Het
Numa1	A	G	7: 101,663,104 (GRCm39)	T724A	probably benign	Het
Oas3	A	G	5: 120,909,214 (GRCm39)	F244S	probably damaging	Het
Or2d2	G	A	7: 106,728,550 (GRCm39)	L17F	probably benign	Het
Or5b117	T	C	19: 13,431,069 (GRCm39)	I271V	probably benign	Het
Rab37	T	G	11: 115,051,349 (GRCm39)		probably benign	Het
Riox2	T	C	16: 59,309,942 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,508,826 (GRCm39)	S3358P	probably damaging	Het
Sash1	T	A	10: 8,605,546 (GRCm39)	H948L	probably benign	Het
Serpinb6e	T	A	13: 34,025,057 (GRCm39)	N78I	probably damaging	Het
Slc25a47	G	A	12: 108,820,184 (GRCm39)	V63M	probably damaging	Het
Slc9b1	A	T	3: 135,099,835 (GRCm39)		probably benign	Het
Strip2	T	A	6: 29,931,209 (GRCm39)	S387T	probably benign	Het
Tcaf3	T	C	6: 42,573,777 (GRCm39)	N145S	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Trmu	T	C	15: 85,781,027 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn2r116	C	T	17: 23,605,889 (GRCm39)	T267I	probably damaging	Het
Whrn	C	A	4: 63,333,804 (GRCm39)	A450S	probably damaging	Het
Ypel1	A	G	16: 16,925,083 (GRCm39)	S30P	probably benign	Het

Other mutations in C2cd4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0625:C2cd4b	UTSW	9	67,667,033 (GRCm39)	missense	probably benign	0.27
R2081:C2cd4b	UTSW	9	67,667,859 (GRCm39)	missense	probably damaging	1.00
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'- CTGCAAGCTGAAGCCAGCGT -3'
(R):5'- CCGGGGATAAGCCACTGTCAAGAG -3'

Sequencing Primer
(F):5'- TGAAGCCAGCGTGGCTC -3'
(R):5'- TAAATGTCCAGAGCACCAGG -3'

Posted On

2014-04-14