Mutagenetix > Incidental Mutation

Incidental Mutation 'R8113:Cabp2'

631041

Institutional Source

Beutler Lab

Gene Symbol

Cabp2

Ensembl Gene

ENSMUSG00000024857

Gene Name

calcium binding protein 2

Synonyms

MMRRC Submission

067542-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4131578-4137340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4135582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 91 (F91I)

Ref Sequence

ENSEMBL: ENSMUSP00000125255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159148] [ENSMUST00000159556] [ENSMUST00000159593] [ENSMUST00000162908]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000159148
AA Change: F73I

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

SMART Domains

Protein: ENSMUSP00000125740
Gene: ENSMUSG00000024857
AA Change: F73I

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
EFh	65	93	2.62e-5	SMART
Blast:EFh	101	126	3e-6	BLAST
EFh	139	167	1.26e-7	SMART
EFh	176	203	3.85e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159556
AA Change: F38I

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

SMART Domains

Protein: ENSMUSP00000124389
Gene: ENSMUSG00000024857
AA Change: F38I

Domain	Start	End	E-Value	Type
EFh	30	58	2.62e-5	SMART
Blast:EFh	66	91	2e-6	BLAST
EFh	104	132	1.26e-7	SMART
EFh	141	168	3.85e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159593
AA Change: F73I

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

SMART Domains

Protein: ENSMUSP00000124607
Gene: ENSMUSG00000024857
AA Change: F73I

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
Pfam:EF-hand_1	65	93	2.8e-9	PFAM
Pfam:EF-hand_6	65	96	6.9e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162908
AA Change: F91I

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

SMART Domains

Protein: ENSMUSP00000125255
Gene: ENSMUSG00000024857
AA Change: F91I

Domain	Start	End	E-Value	Type
low complexity region	25	39	N/A	INTRINSIC
EFh	83	111	2.62e-5	SMART
Blast:EFh	119	144	4e-6	BLAST
EFh	157	185	1.26e-7	SMART
EFh	194	221	3.85e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (72/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 89,048,431 (GRCm39)	S625P	probably damaging	Het
Agpat1	T	C	17: 34,830,586 (GRCm39)	V170A	probably damaging	Het
Alg9	C	T	9: 50,720,080 (GRCm39)	Q519*	probably null	Het
Apol8	C	T	15: 77,634,336 (GRCm39)	R80H	probably benign	Het
Arhgap25	G	T	6: 87,465,287 (GRCm39)	S118*	probably null	Het
Arhgap30	T	A	1: 171,225,086 (GRCm39)	Y47*	probably null	Het
Arhgap42	C	T	9: 9,011,434 (GRCm39)	D451N	probably damaging	Het
Ccdc30	T	C	4: 119,230,943 (GRCm39)	E108G	probably benign	Het
Cfap99	T	C	5: 34,458,763 (GRCm39)	S53P	probably damaging	Het
Clec5a	C	T	6: 40,556,361 (GRCm39)	R135H	possibly damaging	Het
Cops8	T	G	1: 90,531,325 (GRCm39)	D18E	probably benign	Het
Cped1	A	T	6: 22,233,480 (GRCm39)	M779L	possibly damaging	Het
Cyp4x1	G	A	4: 114,967,263 (GRCm39)	H438Y	probably damaging	Het
Disc1	A	T	8: 125,815,014 (GRCm39)	T293S	probably benign	Het
Ercc1	T	C	7: 19,084,102 (GRCm39)	L113S	probably damaging	Het
Ermp1	G	T	19: 29,593,196 (GRCm39)	N765K	probably benign	Het
Fam83c	A	G	2: 155,676,740 (GRCm39)	I10T	probably benign	Het
Farp1	T	C	14: 121,513,008 (GRCm39)	V788A	probably benign	Het
Fbn1	C	G	2: 125,319,489 (GRCm39)	G92R	probably damaging	Het
Fsd1	T	A	17: 56,302,881 (GRCm39)	M328K	probably benign	Het
Fzd3	C	A	14: 65,440,262 (GRCm39)	S636I	probably benign	Het
Gapvd1	A	G	2: 34,594,330 (GRCm39)	S886P	probably damaging	Het
Gatad2b	T	A	3: 90,249,029 (GRCm39)	D22E	probably benign	Het
Gm7168	A	T	17: 14,169,238 (GRCm39)	K202*	probably null	Het
Gmps	T	C	3: 63,887,690 (GRCm39)	I54T	probably damaging	Het
Gp6	A	G	7: 4,397,114 (GRCm39)	I107T	probably benign	Het
Gpat2	T	C	2: 127,273,267 (GRCm39)	V217A	possibly damaging	Het
Hdlbp	T	A	1: 93,344,917 (GRCm39)	I863F	probably damaging	Het
Hmcn1	A	C	1: 150,624,841 (GRCm39)	I1021M	possibly damaging	Het
Igkv6-14	C	T	6: 70,412,087 (GRCm39)	A66T	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Iqch	A	G	9: 63,361,855 (GRCm39)	I925T	probably benign	Het
Kcnt1	A	G	2: 25,791,223 (GRCm39)	E522G	possibly damaging	Het
Kremen2	C	G	17: 23,962,776 (GRCm39)	E103D	probably damaging	Het
Lig4	G	T	8: 10,023,485 (GRCm39)	N98K	probably benign	Het
Lrrc3b	T	G	14: 15,358,232 (GRCm38)	I125L	probably benign	Het
Lrrc4	T	C	6: 28,829,902 (GRCm39)	D148G	probably damaging	Het
Lrsam1	A	G	2: 32,837,901 (GRCm39)	Y218H	possibly damaging	Het
Mmrn2	G	A	14: 34,119,593 (GRCm39)	V191I	probably benign	Het
Nadk	T	A	4: 155,655,127 (GRCm39)		probably null	Het
Napb	C	A	2: 148,551,351 (GRCm39)	A61S	possibly damaging	Het
Ncan	T	A	8: 70,561,221 (GRCm39)	D582V	possibly damaging	Het
Ncl	T	C	1: 86,284,364 (GRCm39)	D244G	possibly damaging	Het
Nlrp14	A	G	7: 106,791,715 (GRCm39)	N800S	possibly damaging	Het
Nlrp9b	C	T	7: 19,753,260 (GRCm39)	T55M	probably benign	Het
Nobox	G	A	6: 43,282,951 (GRCm39)	T228I	probably benign	Het
Npffr1	C	A	10: 61,449,750 (GRCm39)	P8H	possibly damaging	Het
Nrg2	T	C	18: 36,154,156 (GRCm39)	Y587C	probably damaging	Het
Nsd1	T	G	13: 55,393,434 (GRCm39)	V448G	probably benign	Het
Or2w1	T	A	13: 21,317,371 (GRCm39)	V142D	probably benign	Het
Or5e1	G	T	7: 108,354,438 (GRCm39)	C125F	probably damaging	Het
Or8k41	T	G	2: 86,313,412 (GRCm39)	I225L	probably damaging	Het
Or9g20	A	G	2: 85,630,011 (GRCm39)	L201P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Ppp5c	T	C	7: 16,742,932 (GRCm39)	T229A	probably benign	Het
Pramel51	T	C	12: 88,143,850 (GRCm39)	Y329C	probably benign	Het
Prr5	C	T	15: 84,577,993 (GRCm39)	R101C	probably damaging	Het
Psg22	T	C	7: 18,456,987 (GRCm39)	M290T	probably benign	Het
Pzp	C	T	6: 128,490,694 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,516,784 (GRCm39)	V347A	probably benign	Het
Rttn	A	T	18: 89,029,040 (GRCm39)	H586L	probably damaging	Het
Sema3f	A	T	9: 107,565,275 (GRCm39)	I259K	possibly damaging	Het
Sgpp1	A	T	12: 75,763,374 (GRCm39)	L269Q	probably damaging	Het
Slc22a8	A	C	19: 8,582,903 (GRCm39)	I195L	probably benign	Het
Slc35a5	T	C	16: 44,962,551 (GRCm39)	T425A	unknown	Het
Spata31e1	G	A	13: 49,939,548 (GRCm39)	R721C	probably benign	Het
Stard13	G	A	5: 150,986,970 (GRCm39)	T180I	probably damaging	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Svil	A	T	18: 5,062,385 (GRCm39)	T902S	probably damaging	Het
Tnfaip8l3	T	A	9: 53,934,421 (GRCm39)	R185W	probably damaging	Het
Ttn	A	T	2: 76,590,393 (GRCm39)	D21105E	probably benign	Het
Vmn2r109	T	A	17: 20,774,729 (GRCm39)	M209L	probably benign	Het
Vmn2r125	A	G	4: 156,703,642 (GRCm39)	H340R	probably damaging	Het
Zfp946	T	C	17: 22,674,481 (GRCm39)	C412R	probably damaging	Het

Other mutations in Cabp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02160:Cabp2	APN	19	4,134,868 (GRCm39)	splice site	probably benign
IGL02338:Cabp2	APN	19	4,134,154 (GRCm39)	missense	possibly damaging	0.74
R0017:Cabp2	UTSW	19	4,136,242 (GRCm39)	missense	possibly damaging	0.88
R0153:Cabp2	UTSW	19	4,134,913 (GRCm39)	splice site	probably benign
R0432:Cabp2	UTSW	19	4,134,903 (GRCm39)	missense	possibly damaging	0.59
R2027:Cabp2	UTSW	19	4,137,126 (GRCm39)	missense	probably damaging	1.00
R3693:Cabp2	UTSW	19	4,133,593 (GRCm39)	missense	probably benign	0.02
R3694:Cabp2	UTSW	19	4,133,593 (GRCm39)	missense	probably benign	0.02
R3695:Cabp2	UTSW	19	4,133,593 (GRCm39)	missense	probably benign	0.02
R5935:Cabp2	UTSW	19	4,136,497 (GRCm39)	missense	probably damaging	1.00
R5939:Cabp2	UTSW	19	4,136,470 (GRCm39)	missense	possibly damaging	0.85
R6413:Cabp2	UTSW	19	4,135,698 (GRCm39)	splice site	probably null
R7023:Cabp2	UTSW	19	4,132,658 (GRCm39)	critical splice acceptor site	probably null
R8544:Cabp2	UTSW	19	4,134,892 (GRCm39)	missense	probably damaging	1.00
R9125:Cabp2	UTSW	19	4,135,597 (GRCm39)	missense	probably damaging	1.00
R9310:Cabp2	UTSW	19	4,136,464 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACATGACAGATGCTTCTTAAG -3'
(R):5'- ATATCCTGGGCGTTTGGAAC -3'

Sequencing Primer
(F):5'- CTTCTTAAGCATTGGATGAGAGAAC -3'
(R):5'- TTTGGAACAGCGCACACGTC -3'

Posted On

2020-06-30