Mutagenetix > Incidental Mutation

Incidental Mutation 'R2163:Carf'

235247

Institutional Source

Beutler Lab

Gene Symbol

Carf

Ensembl Gene

ENSMUSG00000026017

Gene Name

calcium response factor

Synonyms

Als2cr8

MMRRC Submission

040166-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60137406-60193112 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 60186645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141169 (fasta)

Gene Model

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

AlphaFold

Q8VHI4

Predicted Effect

probably benign
Transcript: ENSMUST00000027171

SMART Domains

Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017

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 benign
Transcript: ENSMUST00000180952

SMART Domains

Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017

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 benign
Transcript: ENSMUST00000187978

SMART Domains

Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	C	A	14: 67,175,997 (GRCm39)	T64K	unknown	Het
Ablim2	T	C	5: 35,959,697 (GRCm39)		probably benign	Het
Acp4	T	C	7: 43,905,400 (GRCm39)	D107G	probably damaging	Het
Adamts2	T	A	11: 50,679,632 (GRCm39)	C871S	probably benign	Het
Adamts3	A	G	5: 89,856,577 (GRCm39)	V332A	probably damaging	Het
Alkal1	C	T	1: 6,459,736 (GRCm39)	T104M	probably benign	Het
Astn1	A	G	1: 158,329,720 (GRCm39)	S192G	probably damaging	Het
Axdnd1	A	C	1: 156,219,573 (GRCm39)	V337G	probably damaging	Het
Baiap2l2	T	C	15: 79,143,395 (GRCm39)	D481G	possibly damaging	Het
Cacna2d1	C	T	5: 16,567,317 (GRCm39)	T964I	probably damaging	Het
Catsper2	T	C	2: 121,230,656 (GRCm39)	D295G	probably damaging	Het
Cdh1	A	G	8: 107,375,713 (GRCm39)	T84A	probably benign	Het
Chd8	T	A	14: 52,436,275 (GRCm39)	H2508L	possibly damaging	Het
Chl1	A	T	6: 103,688,192 (GRCm39)	T284S	probably damaging	Het
Chtop	A	T	3: 90,409,518 (GRCm39)	M125K	probably benign	Het
Col14a1	T	A	15: 55,308,041 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,232,735 (GRCm39)		probably null	Het
Cyp2b10	A	T	7: 25,624,810 (GRCm39)		probably benign	Het
Cyp2c70	G	A	19: 40,149,163 (GRCm39)	H328Y	possibly damaging	Het
Dcbld1	A	G	10: 52,162,452 (GRCm39)	T77A	probably damaging	Het
Dnah6	A	T	6: 73,066,729 (GRCm39)		probably null	Het
Efhd1	A	T	1: 87,217,195 (GRCm39)	D104V	probably damaging	Het
Eif5b	A	T	1: 38,087,875 (GRCm39)	D957V	probably benign	Het
Eps15	T	A	4: 109,227,866 (GRCm39)	S549R	probably damaging	Het
Fbxo3	C	A	2: 103,885,330 (GRCm39)	H400N	probably benign	Het
Fcer1a	A	G	1: 173,050,264 (GRCm39)	V86A	probably damaging	Het
Fh1	A	G	1: 175,442,406 (GRCm39)	M148T	possibly damaging	Het
Foxc1	C	A	13: 31,992,586 (GRCm39)	H466N	unknown	Het
Gadl1	T	A	9: 115,778,626 (GRCm39)	I180N	possibly damaging	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm21718	T	C	14: 51,555,223 (GRCm39)		noncoding transcript	Het
Hivep2	T	A	10: 14,003,970 (GRCm39)	Y189*	probably null	Het
Hoxd13	T	A	2: 74,499,413 (GRCm39)	S254T	possibly damaging	Het
Hspd1	A	G	1: 55,117,697 (GRCm39)		probably benign	Het
Il1r1	A	G	1: 40,334,023 (GRCm39)	M198V	probably benign	Het
Katnal1	T	A	5: 148,825,746 (GRCm39)	I362F	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Mybpc1	T	C	10: 88,376,804 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,407,291 (GRCm39)		probably null	Het
Nell2	G	T	15: 95,327,859 (GRCm39)	N301K	probably damaging	Het
Nenf	T	A	1: 191,042,132 (GRCm39)	D108V	probably damaging	Het
Nfkbiz	T	C	16: 55,638,581 (GRCm39)	N293S	probably benign	Het
Nipbl	T	C	15: 8,366,403 (GRCm39)	K1229E	probably damaging	Het
Nlrp4a	T	C	7: 26,152,822 (GRCm39)	F631L	probably benign	Het
Nrp1	T	A	8: 129,224,352 (GRCm39)	V705E	probably damaging	Het
Nsf	G	C	11: 103,754,159 (GRCm39)	A459G	possibly damaging	Het
Or1af1	A	G	2: 37,110,089 (GRCm39)	E196G	probably damaging	Het
Or5w10	A	G	2: 87,375,238 (GRCm39)	S217P	probably damaging	Het
Pdia4	C	T	6: 47,775,341 (GRCm39)	D490N	possibly damaging	Het
Pinlyp	T	A	7: 24,241,226 (GRCm39)	Y192F	probably benign	Het
Pkd2	T	C	5: 104,603,543 (GRCm39)		probably benign	Het
Ppara	A	G	15: 85,685,247 (GRCm39)	K399E	probably benign	Het
Ppp4r2	C	A	6: 100,842,047 (GRCm39)	N169K	probably damaging	Het
Prom1	T	A	5: 44,171,505 (GRCm39)	E632V	possibly damaging	Het
Rpap3	T	A	15: 97,578,229 (GRCm39)	Y562F	possibly damaging	Het
Rsph14	T	A	10: 74,793,611 (GRCm39)	K263N	probably damaging	Het
Sanbr	T	C	11: 23,526,826 (GRCm39)		probably benign	Het
Scn11a	T	G	9: 119,584,091 (GRCm39)	D1508A	probably damaging	Het
Scn7a	T	C	2: 66,506,300 (GRCm39)	T1530A	probably damaging	Het
Sec14l1	T	A	11: 117,034,108 (GRCm39)		probably null	Het
Slc4a4	A	G	5: 89,362,435 (GRCm39)	I840V	probably damaging	Het
Slco1a8	G	A	6: 141,926,664 (GRCm39)	T554I	possibly damaging	Het
Slco1c1	T	A	6: 141,505,478 (GRCm39)	V419D	probably benign	Het
Sltm	T	A	9: 70,498,964 (GRCm39)	F1013I	probably damaging	Het
Spam1	A	G	6: 24,796,846 (GRCm39)	K266E	probably benign	Het
Syt15	A	G	14: 33,948,073 (GRCm39)	E306G	probably benign	Het
Tap1	A	T	17: 34,408,447 (GRCm39)		probably null	Het
Tbc1d16	G	C	11: 119,045,904 (GRCm39)		probably benign	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Ttn	T	C	2: 76,642,845 (GRCm39)	T13264A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubxn2a	A	T	12: 4,935,757 (GRCm39)	F131Y	probably damaging	Het
Usp40	T	C	1: 87,923,580 (GRCm39)		probably benign	Het
Vmn1r170	T	C	7: 23,306,462 (GRCm39)	L288P	probably damaging	Het
Vmn1r175	A	G	7: 23,508,352 (GRCm39)	Y92H	probably benign	Het
Wdpcp	G	T	11: 21,835,015 (GRCm39)	E673*	probably null	Het
Zfr	T	A	15: 12,162,309 (GRCm39)	L820I	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
R2198:Carf	UTSW	1	60,180,643 (GRCm39)	missense	probably damaging	1.00
R2238:Carf	UTSW	1	60,187,193 (GRCm39)	missense	probably benign
R2981:Carf	UTSW	1	60,178,391 (GRCm39)	missense	probably damaging	1.00
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'- GGAAGTCTTTTGCAAACCTTTGAC -3'
(R):5'- GTACAACAAAGCATTCATGGTCTCTC -3'

Sequencing Primer
(F):5'- GTCTTTTGCAAACCTTTGACTTTGTC -3'
(R):5'- AGCATTCATGGTCTCTCAAATTTTC -3'

Posted On

2014-10-01