Mutagenetix > Incidental Mutations

Incidental Mutation 'R7459:Carf'

578285

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 #

R7459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60098247-60153953 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60128039 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 177 (T177K)

Ref Sequence

ENSEMBL: ENSMUSP00000137825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027171] [ENSMUST00000124986] [ENSMUST00000130075] [ENSMUST00000180952] [ENSMUST00000186107] [ENSMUST00000187978]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027171
AA Change: T142K

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

SMART Domains

Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: T142K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124986

Predicted Effect

probably benign
Transcript: ENSMUST00000130075

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180952
AA Change: T177K

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: T177K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186107
AA Change: T142K

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

SMART Domains

Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017
AA Change: T142K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187978
AA Change: T177K

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: T177K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	T	G	8: 84,167,352	S383A	probably benign	Het
Adgre1	T	A	17: 57,449,933	V730E	probably damaging	Het
Agbl1	G	A	7: 76,420,066	D449N	not run	Het
Agr2	A	T	12: 35,997,453	E96V	probably benign	Het
Als2cr12	T	G	1: 58,691,752	E48D	possibly damaging	Het
Atp1a2	A	C	1: 172,287,295	S308A	probably benign	Het
Birc7	T	C	2: 180,929,357	S71P	possibly damaging	Het
Camk2g	T	C	14: 20,779,207	I73V	probably damaging	Het
Ccdc191	C	T	16: 43,947,457	Q665*	probably null	Het
Cd79a	A	T	7: 24,899,142	T39S	possibly damaging	Het
Ces5a	C	A	8: 93,535,741		probably benign	Het
Dkk2	C	A	3: 132,175,029	T145N	probably benign	Het
Dot1l	C	T	10: 80,773,173	A188V	probably damaging	Het
Egfr	T	A	11: 16,896,967	V788D	probably damaging	Het
Esyt3	T	A	9: 99,358,064	H109L	probably benign	Het
Fam129c	T	A	8: 71,605,027	C516S	possibly damaging	Het
Fam234b	C	T	6: 135,211,901	T168I	probably benign	Het
Fan1	G	T	7: 64,348,966	S936Y	probably damaging	Het
Fat2	T	C	11: 55,303,919	E1098G	probably damaging	Het
Fcgbp	A	G	7: 28,107,285	D2226G	possibly damaging	Het
Flvcr2	T	C	12: 85,747,057	V69A	probably benign	Het
Foxb2	T	A	19: 16,873,072	H190L	unknown	Het
Fut4	C	T	9: 14,751,306	V231M	possibly damaging	Het
Gtf2a1	G	A	12: 91,575,652	A91V	probably benign	Het
Hip1	A	G	5: 135,414,297	S961P	probably damaging	Het
Hsf2bp	C	T	17: 31,946,734	V296M	probably benign	Het
Hspbp1	G	T	7: 4,684,578	H11Q	probably benign	Het
Ighv1-84	C	T	12: 115,980,812	E81K	probably benign	Het
Isg20l2	T	C	3: 87,932,178	L232P	possibly damaging	Het
Isx	A	G	8: 74,892,764	Y181C	probably benign	Het
Kif9	A	G	9: 110,519,041	Y644C	probably damaging	Het
Lin7c	T	A	2: 109,897,337	V177D	probably benign	Het
Lpin3	T	C	2: 160,897,300	S343P	probably benign	Het
Mat1a	A	T	14: 41,120,184	Q246L	probably benign	Het
Mlkl	T	C	8: 111,333,530	I75V	probably benign	Het
Ndufa7	T	A	17: 33,838,166	S107T	probably damaging	Het
Nip7	T	A	8: 107,057,336	C69*	probably null	Het
Nipa2	A	T	7: 55,933,341	W219R	probably damaging	Het
Oas2	A	C	5: 120,749,710	S22A	unknown	Het
Obscn	A	G	11: 59,131,657	V754A	probably benign	Het
Olfr1249	G	A	2: 89,630,668	P77S	probably damaging	Het
Osbpl1a	C	T	18: 12,933,585	C39Y	probably damaging	Het
Pcdhb16	A	T	18: 37,479,553	Y522F	probably benign	Het
Pced1a	T	G	2: 130,419,824	D303A	possibly damaging	Het
Peli1	T	A	11: 21,148,190	Y308*	probably null	Het
Pfas	T	A	11: 68,988,655	R243W		Het
Pik3r5	C	A	11: 68,492,590	Q412K	probably benign	Het
Pkd1l1	A	T	11: 8,902,428	I1135N		Het
Prune1	C	A	3: 95,281,710		probably benign	Het
Ptpn4	T	A	1: 119,659,834	K926N	probably damaging	Het
Ptpre	A	G	7: 135,667,600	N277S	probably benign	Het
Raver2	A	T	4: 101,107,213	D255V	possibly damaging	Het
Rgs20	A	G	1: 4,910,634	V187A	probably benign	Het
Rgs3	A	G	4: 62,625,154	E242G	probably benign	Het
Rims2	T	G	15: 39,517,839	S1055R	probably benign	Het
Rnf146	T	C	10: 29,347,644	D82G	probably benign	Het
Rpgrip1	A	G	14: 52,140,559	S455G	probably benign	Het
Samm50	T	C	15: 84,195,856		probably null	Het
Sh3bgr	A	G	16: 96,205,922	K31E	probably benign	Het
Slc39a8	T	C	3: 135,886,911	I449T	probably damaging	Het
Slc5a3	A	T	16: 92,079,017	Y654F	probably benign	Het
Spata1	T	A	3: 146,476,222	L264F	possibly damaging	Het
Spats2l	A	T	1: 57,799,353		probably benign	Het
Stard13	A	C	5: 151,047,599	S848A	probably damaging	Het
Stat2	A	G	10: 128,276,565	S25G	possibly damaging	Het
Tet2	C	T	3: 133,480,289	R1129Q	possibly damaging	Het
Tmem232	T	C	17: 65,256,389	T670A	probably benign	Het
Tmem266	T	C	9: 55,396,599	L3P	unknown	Het
Tns3	A	T	11: 8,492,793	D523E	probably benign	Het
Trim3	A	T	7: 105,617,808	S455T	probably damaging	Het
Trim31	T	C	17: 36,909,662	V490A	probably damaging	Het
Trmt11	A	C	10: 30,590,043	N168K	probably benign	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Ttn	C	A	2: 76,919,138	D3856Y	possibly damaging	Het
Tulp2	G	A	7: 45,519,803	D377N	probably damaging	Het
Ubl7	A	G	9: 57,914,592	T75A	probably damaging	Het
Ugt2b34	T	G	5: 86,901,275	D297A	possibly damaging	Het
Usp34	A	T	11: 23,364,458	H800L	possibly damaging	Het
Utp3	C	A	5: 88,555,553	L314M	probably damaging	Het
Zer1	A	G	2: 30,113,325	Y27H	probably damaging	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
R7115:Carf	UTSW	1	60148150	missense	probably damaging	1.00
R7228:Carf	UTSW	1	60109394	missense	probably damaging	0.99
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'- ACATGTGTGCCCATACAGTAC -3'
(R):5'- CTATGAGAGACTTCTGCTCTGTC -3'

Sequencing Primer
(F):5'- GTGTGCCCATACAGTACAATATTAC -3'
(R):5'- ACTTTGTAGACCAAGCTGGC -3'

Posted On

2019-10-07