Mutagenetix > Incidental Mutation

Incidental Mutation 'R4837:Cabp1'

374336

Institutional Source

Beutler Lab

Gene Symbol

Cabp1

Ensembl Gene

ENSMUSG00000029544

Gene Name

calcium binding protein 1

Synonyms

caldendrin

MMRRC Submission

042452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115306750-115332440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115311212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 158 (M158V)

Ref Sequence

ENSEMBL: ENSMUSP00000031519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031519] [ENSMUST00000112112] [ENSMUST00000112113] [ENSMUST00000145197]

AlphaFold

Q9JLK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031519
AA Change: M158V

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

SMART Domains

Protein: ENSMUSP00000031519
Gene: ENSMUSG00000029544
AA Change: M158V

Domain	Start	End	E-Value	Type
EFh	86	114	1.22e-5	SMART
Blast:EFh	122	150	1e-7	BLAST
EFh	163	191	3.93e-9	SMART
EFh	200	227	7.82e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112109

SMART Domains

Protein: ENSMUSP00000107737
Gene: ENSMUSG00000029544

Domain	Start	End	E-Value	Type
EFh	71	99	1.22e-5	SMART
Blast:EFh	107	135	8e-8	BLAST
EFh	148	176	3.93e-9	SMART
EFh	185	212	7.82e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112112
AA Change: M98V

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107740
Gene: ENSMUSG00000029544
AA Change: M98V

Domain	Start	End	E-Value	Type
EFh	26	54	1.22e-5	SMART
Blast:EFh	62	90	5e-8	BLAST
EFh	103	131	3.93e-9	SMART
EFh	140	167	7.82e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112113
AA Change: M281V

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107741
Gene: ENSMUSG00000029544
AA Change: M281V

Domain	Start	End	E-Value	Type
low complexity region	29	55	N/A	INTRINSIC
low complexity region	58	113	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
EFh	209	237	1.22e-5	SMART
Blast:EFh	245	273	3e-7	BLAST
EFh	286	314	3.93e-9	SMART
EFh	323	350	7.82e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151775

Meta Mutation Damage Score

0.1358

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (75/76)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knockout allele are viable and fertile and show no apparent motor deficits, but they are affected in the transmission of responses to light through the retinal circuits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,846,203 (GRCm39)	H618L	probably benign	Het
Adgrl3	A	G	5: 81,914,081 (GRCm39)	T1230A	probably benign	Het
Ahnak2	A	G	12: 112,749,359 (GRCm39)	S203P	probably benign	Het
Allc	A	G	12: 28,609,308 (GRCm39)	V244A	probably benign	Het
Ap3m1	G	A	14: 21,087,225 (GRCm39)	P157L	probably damaging	Het
Arhgef2	T	G	3: 88,540,250 (GRCm39)	I97S	probably damaging	Het
Btaf1	C	A	19: 36,944,185 (GRCm39)	T398K	probably benign	Het
Ccdc162	G	A	10: 41,549,863 (GRCm39)	P340L	probably benign	Het
Ccdc168	G	A	1: 44,100,594 (GRCm39)	T168I	possibly damaging	Het
Clip4	A	G	17: 72,141,217 (GRCm39)	K524E	probably damaging	Het
Cltc	A	G	11: 86,586,474 (GRCm39)	V189A	probably benign	Het
Cmc2	A	G	8: 117,620,879 (GRCm39)	F34S	probably damaging	Het
Ctcfl	G	T	2: 172,955,449 (GRCm39)	T271N	probably benign	Het
Cyp4f16	T	A	17: 32,761,738 (GRCm39)	F124I	possibly damaging	Het
Ddx41	C	A	13: 55,679,461 (GRCm39)	R479L	possibly damaging	Het
Dgcr6	C	A	16: 17,884,710 (GRCm39)	N87K	possibly damaging	Het
Dll1	A	G	17: 15,589,121 (GRCm39)	L518P	probably damaging	Het
Dnaja4	G	T	9: 54,617,928 (GRCm39)	M263I	probably benign	Het
Dusp13b	T	A	14: 21,793,593 (GRCm39)		probably benign	Het
Fam185a	T	A	5: 21,685,375 (GRCm39)	I357N	probably benign	Het
Fam186a	T	C	15: 99,838,678 (GRCm39)	Y2522C	unknown	Het
Fam222a	T	A	5: 114,732,458 (GRCm39)	C4*	probably null	Het
Filip1	T	C	9: 79,726,741 (GRCm39)	D626G	probably damaging	Het
Ghrhr	C	T	6: 55,365,172 (GRCm39)	R389C	probably damaging	Het
Gstm3	T	A	3: 107,871,531 (GRCm39)	T217S	probably benign	Het
Gucy2g	T	C	19: 55,214,485 (GRCm39)	T548A	probably benign	Het
Hectd3	T	A	4: 116,859,794 (GRCm39)	C744S	probably null	Het
Hnrnpl	T	C	7: 28,516,762 (GRCm39)	S184P	probably benign	Het
Il3	G	A	11: 54,158,083 (GRCm39)		probably benign	Het
Itga5	C	T	15: 103,262,511 (GRCm39)	G330S	probably damaging	Het
Kl	A	G	5: 150,904,312 (GRCm39)	T355A	possibly damaging	Het
Lipk	A	C	19: 34,009,720 (GRCm39)	S208R	probably damaging	Het
Mrs2	T	A	13: 25,183,040 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,674,887 (GRCm39)	E372G	probably damaging	Het
Myh4	C	A	11: 67,149,818 (GRCm39)	A1821D	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nlrp12	T	C	7: 3,279,693 (GRCm39)	E881G	probably damaging	Het
Nol9	T	C	4: 152,136,552 (GRCm39)		probably benign	Het
Nwd1	A	G	8: 73,383,759 (GRCm39)	E52G	probably damaging	Het
Opn4	A	G	14: 34,318,261 (GRCm39)	V242A	probably damaging	Het
Or4e1	A	T	14: 52,701,103 (GRCm39)	M121K	probably damaging	Het
Or4k44	T	A	2: 111,368,319 (GRCm39)	H105L	probably damaging	Het
Or5m13	A	G	2: 85,748,748 (GRCm39)	T160A	probably benign	Het
Or6b1	T	G	6: 42,814,783 (GRCm39)		probably null	Het
Or6b2b	A	G	1: 92,418,697 (GRCm39)	V260A	probably benign	Het
Paxbp1	G	A	16: 90,831,866 (GRCm39)	Q341*	probably null	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pcdhb18	G	A	18: 37,622,867 (GRCm39)	V66M	probably damaging	Het
Pikfyve	A	G	1: 65,285,749 (GRCm39)	E951G	possibly damaging	Het
Plcg1	A	G	2: 160,592,906 (GRCm39)	N179S	probably benign	Het
Prr11	A	C	11: 86,989,517 (GRCm39)	S285A	probably benign	Het
Ranbp17	A	G	11: 33,278,451 (GRCm39)	S139P	probably damaging	Het
Rasa4	G	A	5: 136,120,664 (GRCm39)		probably null	Het
Rnf213	G	C	11: 119,333,589 (GRCm39)	G2934R	probably benign	Het
Rpap1	A	G	2: 119,608,732 (GRCm39)	V210A	probably benign	Het
Rpn1	T	A	6: 88,067,187 (GRCm39)	N182K	probably benign	Het
Rps24	C	T	14: 24,541,855 (GRCm39)	T14I	possibly damaging	Het
Rrp12	C	T	19: 41,865,944 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,108,539 (GRCm39)		probably null	Het
Rufy1	A	G	11: 50,292,320 (GRCm39)	S490P	probably damaging	Het
Sec62	T	A	3: 30,864,018 (GRCm39)	M100K	unknown	Het
Spata16	A	G	3: 26,787,081 (GRCm39)	H253R	possibly damaging	Het
Srcap	T	C	7: 127,158,134 (GRCm39)		probably benign	Het
Srrm1	A	G	4: 135,072,823 (GRCm39)		probably benign	Het
Tbcd	G	A	11: 121,473,611 (GRCm39)		probably null	Het
Tedc2	C	A	17: 24,439,567 (GRCm39)	A25S	probably damaging	Het
Tnr	A	T	1: 159,512,358 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,936,981 (GRCm39)	D3730A	probably damaging	Het
Tor2a	G	A	2: 32,650,609 (GRCm39)	G201D	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Vmn1r211	G	T	13: 23,036,296 (GRCm39)	Q124K	probably benign	Het
Wasf3	T	C	5: 146,397,788 (GRCm39)	V185A	probably benign	Het
Zbtb12	A	G	17: 35,114,985 (GRCm39)	T257A	probably benign	Het

Other mutations in Cabp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1280:Cabp1	UTSW	5	115,313,530 (GRCm39)	missense	probably benign	0.06
R1307:Cabp1	UTSW	5	115,310,965 (GRCm39)	missense	probably damaging	0.99
R1435:Cabp1	UTSW	5	115,311,267 (GRCm39)	missense	probably damaging	1.00
R2509:Cabp1	UTSW	5	115,310,843 (GRCm39)	missense	probably damaging	1.00
R4417:Cabp1	UTSW	5	115,324,096 (GRCm39)	missense	possibly damaging	0.68
R4788:Cabp1	UTSW	5	115,313,530 (GRCm39)	missense	probably benign	0.06
R5026:Cabp1	UTSW	5	115,313,531 (GRCm39)	missense	possibly damaging	0.83
R5199:Cabp1	UTSW	5	115,324,102 (GRCm39)	missense	possibly damaging	0.92
R6513:Cabp1	UTSW	5	115,307,193 (GRCm39)	missense	possibly damaging	0.51
R6941:Cabp1	UTSW	5	115,310,960 (GRCm39)	missense	probably damaging	1.00
R9659:Cabp1	UTSW	5	115,311,187 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ATGTTGAATGGATGAGCGGC -3'
(R):5'- TCGAGTCGTTTCCTGACCAG -3'

Sequencing Primer
(F):5'- AACACGGAGCAGGGTTCC -3'
(R):5'- GGTCTGACCTCATTGACCTCGG -3'

Posted On

2016-03-01