Mutagenetix > Incidental Mutation

Incidental Mutation 'R4906:Carf'

378150

Institutional Source

Beutler Lab

Gene Symbol

Carf

Ensembl Gene

ENSMUSG00000026017

Gene Name

calcium response factor

Synonyms

Als2cr8

MMRRC Submission

042508-MU

Accession Numbers

Genbank: NM_139150; MGI: 2182269

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60098247-60153953 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60141367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 316 (H316L)

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: H316L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027171
Gene: ENSMUSG00000026017
AA Change: H316L

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: H351L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137825
Gene: ENSMUSG00000026017
AA Change: H351L

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

Predicted Effect

unknown
Transcript: ENSMUST00000186107
AA Change: I228F

SMART Domains

Protein: ENSMUSP00000139554
Gene: ENSMUSG00000026017
AA Change: I228F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186779

Predicted Effect

probably damaging
Transcript: ENSMUST00000187978
AA Change: H351L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141169
Gene: ENSMUSG00000026017
AA Change: H351L

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

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	T	C	7: 107,624,690		probably benign	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Adgrf2	T	C	17: 42,711,193	I247V	probably benign	Het
Adgrv1	A	G	13: 81,270,738		probably null	Het
Ankrd22	T	A	19: 34,149,352	K26I	possibly damaging	Het
Arhgap32	T	A	9: 32,245,256		probably null	Het
Armc10	A	G	5: 21,661,524	Y262C	probably damaging	Het
Arrb2	A	G	11: 70,439,899	D374G	probably benign	Het
Ascc3	C	T	10: 50,749,131	R1675C	probably damaging	Het
Atg5	T	C	10: 44,363,050	*276R	probably null	Het
Bcl11b	G	A	12: 107,916,709	T377M	probably damaging	Het
C1s2	C	A	6: 124,635,114	E104*	probably null	Het
Ccdc77	A	T	6: 120,334,835	I234N	probably damaging	Het
Cd300c2	A	T	11: 114,997,000	V192E	possibly damaging	Het
Cep72	G	A	13: 74,059,465	R62C	probably damaging	Het
Clasp1	T	A	1: 118,508,910	L308*	probably null	Het
Clec2g	A	G	6: 128,979,448	S25G	probably benign	Het
Cngb1	T	C	8: 95,251,973	M1046V	probably damaging	Het
Cobll1	A	T	2: 65,097,693	D1095E	probably benign	Het
Cpeb2	A	G	5: 43,244,662	H662R	possibly damaging	Het
Cps1	A	T	1: 67,139,763	T45S	probably benign	Het
Cspp1	A	G	1: 10,082,328	Q368R	possibly damaging	Het
Dcaf6	C	A	1: 165,411,463		probably null	Het
Dcst1	T	C	3: 89,350,507	Y652C	possibly damaging	Het
Elf5	T	G	2: 103,449,573	Y225*	probably null	Het
Ermap	A	C	4: 119,188,818		probably benign	Het
Fam186b	A	T	15: 99,271,321	V915D	probably damaging	Het
Fbxo34	C	A	14: 47,529,454	N90K	probably benign	Het
Flnc	A	G	6: 29,447,525	E1109G	probably damaging	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Gabpb2	A	G	3: 95,190,636	V242A	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gm14409	T	C	2: 177,265,430	T92A	possibly damaging	Het
Gm21798	A	T	15: 64,817,883		probably benign	Het
Gm765	A	T	6: 98,238,119	M181K	probably damaging	Het
Gpr179	A	T	11: 97,346,661	S345T	possibly damaging	Het
Gusb	A	T	5: 129,998,118	F377L	probably damaging	Het
Hnrnpu	T	C	1: 178,329,373		probably benign	Het
Htr3b	C	T	9: 48,937,048		probably null	Het
Iqub	A	T	6: 24,501,369	V194D	probably damaging	Het
Itga2b	A	G	11: 102,461,159	V504A	probably benign	Het
Itga4	T	A	2: 79,288,248	F430L	probably damaging	Het
Jcad	C	A	18: 4,673,762	P508H	probably damaging	Het
Jph1	T	C	1: 17,091,611	T276A	probably damaging	Het
Kansl2	A	G	15: 98,531,890	F87S	possibly damaging	Het
Kdm1b	T	C	13: 47,063,144		probably null	Het
Kif5b	C	T	18: 6,220,930	D393N	probably benign	Het
Kmt2d	A	T	15: 98,849,539		probably benign	Het
Krt75	A	G	15: 101,570,239	I320T	probably damaging	Het
Lipo5	T	C	19: 33,465,948	N156S	unknown	Het
Mblac2	A	C	13: 81,711,587	Q19P	probably null	Het
Mfsd4b3	T	C	10: 39,948,060	H68R	probably damaging	Het
Mzb1	A	T	18: 35,647,953		probably null	Het
Nup210l	T	A	3: 90,170,030	I891N	probably benign	Het
Nwd1	G	A	8: 72,672,213	R667Q	probably damaging	Het
Oas1h	C	T	5: 120,867,109	Q207*	probably null	Het
Olfr159	A	T	4: 43,770,476	F178L	possibly damaging	Het
Pcdh15	C	T	10: 74,504,793	R1120*	probably null	Het
Pfkl	A	G	10: 77,988,310	L748P	probably damaging	Het
Phldb2	T	A	16: 45,751,395	K473N	probably damaging	Het
Rapgef6	G	A	11: 54,552,836	V82I	probably damaging	Het
Rfc3	A	T	5: 151,647,495	L112Q	probably damaging	Het
Rsph6a	T	A	7: 19,068,072	C349S	possibly damaging	Het
Sec16a	A	T	2: 26,441,967		probably benign	Het
Sept14	T	A	5: 129,692,966	Y222F	probably benign	Het
Skor2	T	C	18: 76,860,295	S571P	possibly damaging	Het
Slc13a5	T	A	11: 72,257,418	M264L	probably damaging	Het
Slc45a3	T	A	1: 131,981,577	V504E	probably damaging	Het
Smg1	C	T	7: 118,152,408		probably benign	Het
Smim20	A	G	5: 53,277,161	N45S	probably null	Het
Spp2	A	T	1: 88,412,269	S111C	probably damaging	Het
Sspo	A	G	6: 48,465,730		probably null	Het
Sycp2	C	T	2: 178,403,657		probably null	Het
Tas2r113	A	G	6: 132,893,558	N183S	possibly damaging	Het
Tcaf2	A	T	6: 42,629,745	M425K	probably benign	Het
Tdrp	A	G	8: 13,953,845	V164A	possibly damaging	Het
Tmbim1	A	G	1: 74,289,409	F298S	probably damaging	Het
Tmem211	T	A	5: 113,238,170	M161K	probably benign	Het
Tmem89	A	G	9: 108,914,761		probably benign	Het
Trpm2	G	T	10: 77,932,189	C825*	probably null	Het
Tsc1	A	G	2: 28,675,189	E421G	possibly damaging	Het
Usp24	T	C	4: 106,388,637	I1364T	probably benign	Het
Vmn1r52	G	A	6: 90,178,948	G78E	possibly damaging	Het
Vmn2r73	T	G	7: 85,857,621	I828L	probably damaging	Het
Vwa5b1	A	T	4: 138,610,747	D87E	probably benign	Het
Zfp451	A	T	1: 33,805,384	D47E	probably damaging	Het
Zfp821	A	G	8: 109,724,209	E278G	probably damaging	Het
Zfp930	A	T	8: 69,228,945	T430S	probably benign	Het
Zfp994	G	T	17: 22,200,467	Y500*	probably null	Het
Zmat3	A	T	3: 32,343,687	I142N	probably damaging	Het
Zzef1	T	A	11: 72,901,388	I2266N	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
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
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
R9155:Carf	UTSW	1	60150683	missense	possibly damaging	0.85
R9177:Carf	UTSW	1	60109399	missense	possibly damaging	0.61
R9215:Carf	UTSW	1	60150645	missense	possibly damaging	0.62
R9268:Carf	UTSW	1	60109399	missense	possibly damaging	0.61
R9750:Carf	UTSW	1	60131999	nonsense	probably null
Z1177:Carf	UTSW	1	60136262	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCCTTAGCTTTGGGTCAG -3'
(R):5'- GTCCTACTCCCTGTGACACTAG -3'

Sequencing Primer
(F):5'- GTGTGCCAACATTTCCAGAG -3'
(R):5'- GACACTAGTTCCTGAATCTTATGCG -3'

Posted On

2016-04-15