Mutagenetix > Incidental Mutation

Incidental Mutation 'R2981:Carf'

257071

Institutional Source

Beutler Lab

Gene Symbol

Carf

Ensembl Gene

ENSMUSG00000026017

Gene Name

calcium response factor

Synonyms

Als2cr8

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2981 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60137406-60193112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60178391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 268 (E268V)

Ref Sequence

ENSEMBL: ENSMUSP00000027171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027171] [ENSMUST00000130075] [ENSMUST00000180952] [ENSMUST00000186107] [ENSMUST00000187978]

AlphaFold

Q8VHI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027171
AA Change: E268V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: E268V

Domain	Start	End	E-Value	Type
Pfam:ALS2CR8	227	457	6.4e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130075

Predicted Effect

probably benign
Transcript: ENSMUST00000132949

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180952
AA Change: E303V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: E303V

Domain	Start	End	E-Value	Type
Pfam:ALS2CR8	224	458	1.2e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186107

SMART Domains

Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017

Domain	Start	End	E-Value	Type
low complexity region	239	255	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186779

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187978
AA Change: E303V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: E303V

Domain	Start	End	E-Value	Type
Pfam:ALS2CR8	224	458	1.2e-64	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele have aberrant learning and memory. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(2)

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,965,938 (GRCm39)	T163A	probably benign	Het
Adgrg7	C	T	16: 56,570,769 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,977,512 (GRCm39)	Q17K	probably damaging	Het
Cacna2d3	T	C	14: 28,785,875 (GRCm39)	Y604C	probably damaging	Het
Dmxl2	C	A	9: 54,300,986 (GRCm39)	R2375L	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	G	15: 58,435,926 (GRCm39)	K440E	probably damaging	Het
Grin2a	A	T	16: 9,462,087 (GRCm39)	F682I	possibly damaging	Het
Irf3	C	A	7: 44,648,124 (GRCm39)		probably null	Het
Kif1b	C	T	4: 149,304,998 (GRCm39)		probably null	Het
Pcdha5	A	G	18: 37,094,529 (GRCm39)	N346S	probably damaging	Het
Prex2	T	A	1: 11,252,186 (GRCm39)	V1077D	probably damaging	Het
Rptor	T	C	11: 119,756,420 (GRCm39)	L71S	probably damaging	Het
Timeless	A	G	10: 128,084,327 (GRCm39)	T791A	probably benign	Het
Trim58	T	A	11: 58,542,387 (GRCm39)	V449D	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vrk1	A	G	12: 106,018,052 (GRCm39)	Y107C	probably damaging	Het
Yeats2	C	T	16: 20,005,051 (GRCm39)	P400S	probably damaging	Het

Other mutations in Carf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Carf	APN	1	60,164,001 (GRCm39)	splice site	probably benign
IGL00730:Carf	APN	1	60,186,577 (GRCm39)	nonsense	probably null
IGL00792:Carf	APN	1	60,165,168 (GRCm39)	missense	possibly damaging	0.73
IGL00913:Carf	APN	1	60,187,114 (GRCm39)	missense	probably benign	0.20
IGL01487:Carf	APN	1	60,148,538 (GRCm39)	missense	probably damaging	1.00
IGL02214:Carf	APN	1	60,187,240 (GRCm39)	missense	probably damaging	1.00
IGL03258:Carf	APN	1	60,148,388 (GRCm39)	missense	possibly damaging	0.93
IGL03285:Carf	APN	1	60,185,313 (GRCm39)	missense	probably damaging	1.00
3-1:Carf	UTSW	1	60,180,627 (GRCm39)	missense	possibly damaging	0.93
PIT4283001:Carf	UTSW	1	60,167,161 (GRCm39)	missense	probably benign	0.32
R0375:Carf	UTSW	1	60,183,161 (GRCm39)	missense	probably damaging	1.00
R0465:Carf	UTSW	1	60,171,142 (GRCm39)	missense	probably damaging	1.00
R0591:Carf	UTSW	1	60,165,073 (GRCm39)	splice site	probably benign
R1158:Carf	UTSW	1	60,186,998 (GRCm39)	missense	probably benign	0.22
R1433:Carf	UTSW	1	60,164,017 (GRCm39)	missense	probably damaging	1.00
R1464:Carf	UTSW	1	60,165,065 (GRCm39)	splice site	probably benign
R1467:Carf	UTSW	1	60,167,152 (GRCm39)	missense	possibly damaging	0.58
R1467:Carf	UTSW	1	60,167,152 (GRCm39)	missense	possibly damaging	0.58
R1546:Carf	UTSW	1	60,165,195 (GRCm39)	critical splice donor site	probably null
R1801:Carf	UTSW	1	60,180,664 (GRCm39)	missense	possibly damaging	0.60
R1977:Carf	UTSW	1	60,185,295 (GRCm39)	missense	probably damaging	1.00
R2086:Carf	UTSW	1	60,148,570 (GRCm39)	missense	probably damaging	1.00
R2163:Carf	UTSW	1	60,186,645 (GRCm39)	splice site	probably benign
R2198:Carf	UTSW	1	60,180,643 (GRCm39)	missense	probably damaging	1.00
R2238:Carf	UTSW	1	60,187,193 (GRCm39)	missense	probably benign
R4090:Carf	UTSW	1	60,175,506 (GRCm39)	missense	possibly damaging	0.94
R4573:Carf	UTSW	1	60,187,271 (GRCm39)	missense	probably benign	0.39
R4737:Carf	UTSW	1	60,148,477 (GRCm39)	missense	probably benign	0.00
R4906:Carf	UTSW	1	60,180,526 (GRCm39)	missense	probably damaging	1.00
R4965:Carf	UTSW	1	60,189,796 (GRCm39)	missense	probably damaging	0.99
R5080:Carf	UTSW	1	60,189,772 (GRCm39)	missense	probably damaging	0.98
R5184:Carf	UTSW	1	60,147,333 (GRCm39)	missense	probably damaging	0.99
R5949:Carf	UTSW	1	60,178,472 (GRCm39)	missense	probably damaging	1.00
R6135:Carf	UTSW	1	60,187,122 (GRCm39)	missense	probably damaging	1.00
R6346:Carf	UTSW	1	60,180,699 (GRCm39)	nonsense	probably null
R6886:Carf	UTSW	1	60,175,413 (GRCm39)	splice site	probably null
R7115:Carf	UTSW	1	60,187,309 (GRCm39)	missense	probably damaging	1.00
R7228:Carf	UTSW	1	60,148,553 (GRCm39)	missense	probably damaging	0.99
R7459:Carf	UTSW	1	60,167,198 (GRCm39)	missense	possibly damaging	0.93
R7755:Carf	UTSW	1	60,187,214 (GRCm39)	missense	probably benign	0.00
R7809:Carf	UTSW	1	60,183,226 (GRCm39)	missense	probably damaging	0.98
R8053:Carf	UTSW	1	60,167,197 (GRCm39)	missense	probably benign	0.42
R8137:Carf	UTSW	1	60,187,124 (GRCm39)	missense	probably benign	0.00
R8423:Carf	UTSW	1	60,189,752 (GRCm39)	missense	possibly damaging	0.95
R9155:Carf	UTSW	1	60,189,842 (GRCm39)	missense	possibly damaging	0.85
R9177:Carf	UTSW	1	60,148,558 (GRCm39)	missense	possibly damaging	0.61
R9215:Carf	UTSW	1	60,189,804 (GRCm39)	missense	possibly damaging	0.62
R9268:Carf	UTSW	1	60,148,558 (GRCm39)	missense	possibly damaging	0.61
R9750:Carf	UTSW	1	60,171,158 (GRCm39)	nonsense	probably null
Z1177:Carf	UTSW	1	60,175,421 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTTCCAGTACAATGAAGAAG -3'
(R):5'- GGTAAAAGAGTCCTTGTTAGTGATG -3'

Sequencing Primer
(F):5'- GATGTCTTTCATAAGCTTCTGA -3'
(R):5'- TGCTAATAAGAAAATGAAAGGGTTGC -3'

Posted On

2015-01-11