Mutagenetix > Incidental Mutation

Incidental Mutation 'R5935:Cabp2'

462227

Institutional Source

Beutler Lab

Gene Symbol

Cabp2

Ensembl Gene

ENSMUSG00000024857

Gene Name

calcium binding protein 2

Synonyms

MMRRC Submission

044129-MU

Accession Numbers

Essential gene?

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

Stock #

R5935 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4131578-4137340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4136497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 181 (A181D)

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: A163D

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125740
Gene: ENSMUSG00000024857
AA Change: A163D

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: A128D

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

SMART Domains

Protein: ENSMUSP00000124389
Gene: ENSMUSG00000024857
AA Change: A128D

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 benign
Transcript: ENSMUST00000159593

SMART Domains

Protein: ENSMUSP00000124607
Gene: ENSMUSG00000024857

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

noncoding transcript
Transcript: ENSMUST00000162584

Predicted Effect

probably damaging
Transcript: ENSMUST00000162908
AA Change: A181D

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

SMART Domains

Protein: ENSMUSP00000125255
Gene: ENSMUSG00000024857
AA Change: A181D

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

Meta Mutation Damage Score

0.8508

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (92/96)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	C	G	8: 43,974,335 (GRCm39)	M222I	probably benign	Het
Ahnak	T	C	19: 8,992,546 (GRCm39)	V4610A	possibly damaging	Het
Ankrd13c	C	T	3: 157,653,220 (GRCm39)		silent	Het
Cables2	A	G	2: 179,903,841 (GRCm39)		probably benign	Het
Camsap3	A	G	8: 3,651,999 (GRCm39)	D265G	probably damaging	Het
Cbs	G	T	17: 31,851,853 (GRCm39)	T50N	probably damaging	Het
Cenpa	A	T	5: 30,830,381 (GRCm39)	Q83L	possibly damaging	Het
Cit	A	T	5: 116,063,598 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,445,445 (GRCm39)	E1694G	possibly damaging	Het
Copz1	A	T	15: 103,203,197 (GRCm39)	M104L	probably benign	Het
Crot	T	A	5: 9,024,192 (GRCm39)	M335L	probably benign	Het
Ctnna2	T	C	6: 77,120,904 (GRCm39)	D373G	probably benign	Het
Ctu2	G	A	8: 123,203,693 (GRCm39)		probably benign	Het
Cyp3a59	T	A	5: 146,027,455 (GRCm39)	Y75*	probably null	Het
Dbi	A	G	1: 120,048,583 (GRCm39)	I21T	probably benign	Het
Dcun1d3	A	G	7: 119,458,799 (GRCm39)	S79P	probably benign	Het
Dock10	T	A	1: 80,483,304 (GRCm39)		probably benign	Het
Dstyk	T	A	1: 132,381,875 (GRCm39)	I543N	probably damaging	Het
Epx	G	T	11: 87,756,318 (GRCm39)	A621E	probably damaging	Het
Farp2	G	A	1: 93,548,367 (GRCm39)		probably null	Het
Gm11992	C	T	11: 9,002,711 (GRCm39)	P25S	probably damaging	Het
Grik5	A	T	7: 24,758,502 (GRCm39)	M307K	possibly damaging	Het
Hnf1b	A	T	11: 83,773,503 (GRCm39)	N234I	probably damaging	Het
Htr2a	A	G	14: 74,882,530 (GRCm39)	D172G	probably damaging	Het
Ifit1bl2	T	C	19: 34,597,128 (GRCm39)	T163A	probably benign	Het
Igsf10	A	T	3: 59,235,578 (GRCm39)	D1534E	probably benign	Het
Il3ra	T	G	14: 14,350,799 (GRCm38)	V178G	probably damaging	Het
Itgb1	A	T	8: 129,439,718 (GRCm39)	K136*	probably null	Het
Itprid1	A	T	6: 55,874,754 (GRCm39)	R235*	probably null	Het
Lama2	T	A	10: 26,891,494 (GRCm39)	I2540F	probably benign	Het
Lrp8	C	A	4: 107,714,493 (GRCm39)	H622Q	probably damaging	Het
Lrrc2	T	A	9: 110,795,629 (GRCm39)	M138K	probably benign	Het
Lrrk2	C	A	15: 91,630,034 (GRCm39)	H1242N	probably benign	Het
Lsm11	G	C	11: 45,835,445 (GRCm39)	R99G	probably benign	Het
Mif4gd	C	T	11: 115,500,439 (GRCm39)	V40M	probably benign	Het
Mpp3	A	T	11: 101,916,241 (GRCm39)	V37D	probably damaging	Het
Mre11a	T	A	9: 14,698,258 (GRCm39)	D35E	probably damaging	Het
Mroh4	C	A	15: 74,493,003 (GRCm39)	V233F	probably damaging	Het
Npy2r	A	T	3: 82,448,068 (GRCm39)	S123T	possibly damaging	Het
Nrip2	A	G	6: 128,385,361 (GRCm39)	Y264C	possibly damaging	Het
Obscn	A	G	11: 58,897,639 (GRCm39)	S6639P	unknown	Het
Or10d4	C	T	9: 39,580,386 (GRCm39)	T11I	probably benign	Het
Or51t4	T	A	7: 102,598,017 (GRCm39)	F105Y	probably benign	Het
Osbpl5	C	T	7: 143,310,695 (GRCm39)		probably benign	Het
Panx1	A	T	9: 14,921,513 (GRCm39)	Y121N	probably damaging	Het
Pcdhb8	A	G	18: 37,489,243 (GRCm39)	D307G	probably damaging	Het
Pde1b	A	G	15: 103,429,866 (GRCm39)	K120E	possibly damaging	Het
Pdzrn4	T	C	15: 92,295,255 (GRCm39)	S154P	probably benign	Het
Ppp1r13b	T	C	12: 111,796,876 (GRCm39)	K889R	probably benign	Het
Ppp4r3a	T	A	12: 101,017,872 (GRCm39)	D439V	probably damaging	Het
Ptk2b	A	G	14: 66,411,328 (GRCm39)	I401T	probably damaging	Het
Rab24	T	C	13: 55,468,343 (GRCm39)	T153A	probably damaging	Het
Rarb	C	A	14: 16,434,264 (GRCm38)	A305S	probably damaging	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Scn10a	G	A	9: 119,456,237 (GRCm39)	T1194I	probably damaging	Het
Scn3a	G	T	2: 65,295,180 (GRCm39)	N1514K	probably damaging	Het
Serpinb3d	T	C	1: 107,011,105 (GRCm39)	T36A	probably benign	Het
Shisa5	T	A	9: 108,885,751 (GRCm39)	M229K	possibly damaging	Het
Sik2	C	T	9: 50,828,431 (GRCm39)	G204R	probably damaging	Het
Sla	C	T	15: 66,665,554 (GRCm39)	G46E	probably damaging	Het
Slc35g3	A	T	11: 69,652,509 (GRCm39)	M1K	probably null	Het
Slc5a7	A	T	17: 54,583,972 (GRCm39)	Y439*	probably null	Het
Slc9a1	T	C	4: 133,147,176 (GRCm39)		probably benign	Het
Slitrk6	T	G	14: 110,987,305 (GRCm39)	T801P	probably benign	Het
Spata31d1c	T	C	13: 65,184,894 (GRCm39)	V812A	possibly damaging	Het
Spata31g1	T	C	4: 42,971,465 (GRCm39)	L230P	probably benign	Het
Spef1l	G	A	7: 139,556,526 (GRCm39)	H154Y	probably benign	Het
Sphkap	A	C	1: 83,317,320 (GRCm39)	L59R	probably damaging	Het
Spmip8	A	T	8: 96,046,620 (GRCm39)	T98S	possibly damaging	Het
Srsf10	C	A	4: 135,583,553 (GRCm39)	R6S	probably damaging	Het
Supt5	T	A	7: 28,028,900 (GRCm39)	R131S	probably benign	Het
Syne1	T	C	10: 5,310,706 (GRCm39)		probably null	Het
Tet2	T	A	3: 133,194,296 (GRCm39)	H46L	possibly damaging	Het
Tnfsf4	T	A	1: 161,244,819 (GRCm39)	N169K	probably damaging	Het
Tprg1	A	T	16: 25,136,011 (GRCm39)	M1L	possibly damaging	Het
Tsen2	A	G	6: 115,536,556 (GRCm39)	Y104C	probably damaging	Het
Ttc6	A	G	12: 57,720,590 (GRCm39)	Y952C	probably damaging	Het
Umod	A	T	7: 119,070,650 (GRCm39)	I414N	probably damaging	Het
Usp10	G	T	8: 120,673,828 (GRCm39)	V398L	possibly damaging	Het
Vmn2r23	A	T	6: 123,718,854 (GRCm39)	I736F	possibly damaging	Het
Vmn2r65	C	A	7: 84,592,869 (GRCm39)	G446V	probably benign	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Yars2	A	G	16: 16,127,335 (GRCm39)	I467V	probably benign	Het
Ykt6	A	G	11: 5,909,338 (GRCm39)	E49G	possibly damaging	Het
Zan	T	A	5: 137,442,192 (GRCm39)	M1907L	unknown	Het
Zdhhc2	T	C	8: 40,917,277 (GRCm39)	S225P	probably damaging	Het
Zfc3h1	A	T	10: 115,267,262 (GRCm39)		probably benign	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
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
R8113:Cabp2	UTSW	19	4,135,582 (GRCm39)	missense	probably damaging	1.00
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'- CAGACATGATTGGCGTGAGG -3'
(R):5'- TCGATCCTTCATGATAACTGAGAAC -3'

Sequencing Primer
(F):5'- AGCTTCGAGACGCCTTCC -3'
(R):5'- AATGCTGCGACCCTTTGATACAG -3'

Posted On

2017-02-28