Mutagenetix > Incidental Mutations

Incidental Mutation 'R7115:Carf'

551710

Institutional Source

Beutler Lab

Gene Symbol

Carf

Ensembl Gene

ENSMUSG00000026017

Gene Name

calcium response factor

Synonyms

Als2cr8

MMRRC Submission

Accession Numbers

Genbank: NM_139150; MGI: 2182269

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60098247-60153953 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 60148150 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 637 (L637F)

Ref Sequence

ENSEMBL: ENSMUSP00000137825 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027171
AA Change: L602F

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

SMART Domains

Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: L602F

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

probably damaging
Transcript: ENSMUST00000180952
AA Change: L637F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: L637F

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

probably damaging
Transcript: ENSMUST00000187978
AA Change: L637F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: L637F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,437,725	I636N	probably benign	Het
Adam5	A	G	8: 24,781,696	I565T	possibly damaging	Het
Amd2	C	A	10: 35,711,637		probably benign	Het
Ap5m1	T	A	14: 49,086,270	Y472*	probably null	Het
Apcdd1	T	C	18: 62,936,953	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,380,876	K267R		Het
BC067074	T	G	13: 113,320,776	S1119A		Het
Ccdc103	A	T	11: 102,883,810	S95C	possibly damaging	Het
Cfap20	T	C	8: 95,421,246	I156V	probably benign	Het
Csn1s2a	T	C	5: 87,781,805	C96R	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dennd2a	G	A	6: 39,506,711	T405M	probably damaging	Het
Dennd5a	A	G	7: 109,894,754	Y1248H	probably damaging	Het
Dnah14	A	T	1: 181,720,145	K2504N	probably damaging	Het
Dnajb2	G	A	1: 75,243,662	G275D		Het
Elf3	T	G	1: 135,257,118	D110A	probably damaging	Het
Eomes	A	G	9: 118,484,489	N534S	probably benign	Het
Fry	A	T	5: 150,386,067	R659W	probably damaging	Het
Gm10428	G	A	11: 62,753,380	C94Y	unknown	Het
Gm2696	T	A	10: 77,836,299	C111S	unknown	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Lrp1b	T	A	2: 40,998,235	N2338Y		Het
Map2k1	A	G	9: 64,212,606	I139T	probably damaging	Het
Olfr44	T	C	9: 39,484,648	I202V	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,707	Y79C	probably benign	Het
Pxylp1	G	A	9: 96,825,010	T373I	probably benign	Het
Ranbp9	T	C	13: 43,406,671	N484S	probably benign	Het
Rassf5	A	G	1: 131,181,249	V293A	probably benign	Het
Ring1	A	G	17: 34,023,446	I29T	probably damaging	Het
Scn1a	G	A	2: 66,324,618	Q666*	probably null	Het
Spice1	G	A	16: 44,379,275	G697R	probably benign	Het
Tas2r131	A	G	6: 132,957,604	F81L	probably benign	Het
Tenm2	G	A	11: 36,163,817	S572L	probably damaging	Het
Tfr2	A	G	5: 137,571,715	T128A	probably benign	Het
Trim56	T	A	5: 137,113,660	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,367,528	R840*	probably null	Het

Other mutations in Carf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Carf	APN	1	60124842	splice site	probably benign
IGL00730:Carf	APN	1	60147418	nonsense	probably null
IGL00792:Carf	APN	1	60126009	missense	possibly damaging	0.73
IGL00913:Carf	APN	1	60147955	missense	probably benign	0.20
IGL01487:Carf	APN	1	60109379	missense	probably damaging	1.00
IGL02214:Carf	APN	1	60148081	missense	probably damaging	1.00
IGL03258:Carf	APN	1	60109229	missense	possibly damaging	0.93
IGL03285:Carf	APN	1	60146154	missense	probably damaging	1.00
3-1:Carf	UTSW	1	60141468	missense	possibly damaging	0.93
PIT4283001:Carf	UTSW	1	60128002	missense	probably benign	0.32
R0375:Carf	UTSW	1	60144002	missense	probably damaging	1.00
R0465:Carf	UTSW	1	60131983	missense	probably damaging	1.00
R0591:Carf	UTSW	1	60125914	splice site	probably benign
R1158:Carf	UTSW	1	60147839	missense	probably benign	0.22
R1433:Carf	UTSW	1	60124858	missense	probably damaging	1.00
R1464:Carf	UTSW	1	60125906	splice site	probably benign
R1467:Carf	UTSW	1	60127993	missense	possibly damaging	0.58
R1467:Carf	UTSW	1	60127993	missense	possibly damaging	0.58
R1546:Carf	UTSW	1	60126036	critical splice donor site	probably null
R1801:Carf	UTSW	1	60141505	missense	possibly damaging	0.60
R1977:Carf	UTSW	1	60146136	missense	probably damaging	1.00
R2086:Carf	UTSW	1	60109411	missense	probably damaging	1.00
R2163:Carf	UTSW	1	60147486	splice site	probably benign
R2198:Carf	UTSW	1	60141484	missense	probably damaging	1.00
R2238:Carf	UTSW	1	60148034	missense	probably benign
R2981:Carf	UTSW	1	60139232	missense	probably damaging	1.00
R4090:Carf	UTSW	1	60136347	missense	possibly damaging	0.94
R4573:Carf	UTSW	1	60148112	missense	probably benign	0.39
R4737:Carf	UTSW	1	60109318	missense	probably benign	0.00
R4906:Carf	UTSW	1	60141367	missense	probably damaging	1.00
R4965:Carf	UTSW	1	60150637	missense	probably damaging	0.99
R5080:Carf	UTSW	1	60150613	missense	probably damaging	0.98
R5184:Carf	UTSW	1	60108174	missense	probably damaging	0.99
R5949:Carf	UTSW	1	60139313	missense	probably damaging	1.00
R6135:Carf	UTSW	1	60147963	missense	probably damaging	1.00
R6346:Carf	UTSW	1	60141540	nonsense	probably null
R6886:Carf	UTSW	1	60136254	splice site	probably null
R7228:Carf	UTSW	1	60109394	missense	probably damaging	0.99
R7459:Carf	UTSW	1	60128039	missense	possibly damaging	0.93
R7755:Carf	UTSW	1	60148055	missense	probably benign	0.00
R7809:Carf	UTSW	1	60144067	missense	probably damaging	0.98
R8053:Carf	UTSW	1	60128038	missense	probably benign	0.42
R8137:Carf	UTSW	1	60147965	missense	probably benign	0.00
R8423:Carf	UTSW	1	60150593	missense	possibly damaging	0.95
Z1177:Carf	UTSW	1	60136262	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTGGTCAGAGTCAAAACCC -3'
(R):5'- AGGGCCTACTATGGAGTAAAGTAC -3'

Sequencing Primer
(F):5'- GTCAGAGTCAAAACCCTGGGAC -3'
(R):5'- CACACAGGATCTTGCTAAGTTGGTC -3'

Posted On

2019-05-15