Mutagenetix > Incidental Mutation

Incidental Mutation 'R6941:Cabp1'

540534

Institutional Source

Beutler Lab

Gene Symbol

Cabp1

Ensembl Gene

ENSMUSG00000029544

Gene Name

calcium binding protein 1

Synonyms

caldendrin

MMRRC Submission

045055-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6941 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115306750-115332440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115310960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 295 (D295E)

Ref Sequence

ENSEMBL: ENSMUSP00000107741 (fasta)

Gene Model

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

AlphaFold

Q9JLK7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031519
AA Change: D172E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031519
Gene: ENSMUSG00000029544
AA Change: D172E

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

probably benign
Transcript: ENSMUST00000112112
AA Change: D112E

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107740
Gene: ENSMUSG00000029544
AA Change: D112E

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

probably damaging
Transcript: ENSMUST00000112113
AA Change: D295E

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

SMART Domains

Protein: ENSMUSP00000107741
Gene: ENSMUSG00000029544
AA Change: D295E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.0%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,140,370 (GRCm39)	I1557F	probably damaging	Het
Acad10	A	T	5: 121,787,420 (GRCm39)	D176E	probably damaging	Het
Acta2	A	T	19: 34,229,922 (GRCm39)	V11E	probably damaging	Het
Ampd2	T	C	3: 107,986,609 (GRCm39)	H225R	probably damaging	Het
Arfgef3	A	G	10: 18,501,203 (GRCm39)	Y1016H	possibly damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU018091	A	G	7: 3,209,267 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,819,469 (GRCm39)	V481A	probably benign	Het
Cd180	A	T	13: 102,842,699 (GRCm39)	T582S	probably benign	Het
Cnksr3	A	G	10: 7,076,758 (GRCm39)	S145P	probably damaging	Het
Ddx27	A	G	2: 166,857,297 (GRCm39)	D15G	possibly damaging	Het
Dsc1	T	C	18: 20,230,246 (GRCm39)	Y353C	probably benign	Het
Dsg1c	C	T	18: 20,400,980 (GRCm39)	T161I	probably damaging	Het
Epm2a	A	G	10: 11,266,829 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,152,914 (GRCm39)	H3766R	probably benign	Het
Fjx1	A	G	2: 102,280,903 (GRCm39)	V344A	probably benign	Het
Frmd3	A	G	4: 74,016,363 (GRCm39)	I93V	probably benign	Het
Gbe1	TAGTAAGAGT	TAGT	16: 70,230,444 (GRCm39)		probably benign	Het
Gdf15	A	G	8: 71,082,794 (GRCm39)	L104P	possibly damaging	Het
Glra3	G	A	8: 56,393,961 (GRCm39)	R24Q	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ipmk	G	A	10: 71,183,920 (GRCm39)	G47S	probably null	Het
Itsn2	T	C	12: 4,679,641 (GRCm39)	I150T	probably benign	Het
Kcnq5	T	C	1: 21,476,068 (GRCm39)	Y545C	probably damaging	Het
Klk1b8	C	A	7: 43,602,213 (GRCm39)	H48Q	possibly damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc34	T	C	3: 30,678,969 (GRCm39)	Y376C	probably benign	Het
Mast4	A	T	13: 102,941,222 (GRCm39)	D278E	probably damaging	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Ndst4	T	G	3: 125,403,160 (GRCm39)	H422Q	possibly damaging	Het
Nek7	T	C	1: 138,430,376 (GRCm39)	E206G	probably damaging	Het
Nufip2	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 77,577,122 (GRCm39)		probably benign	Het
Or5b99	T	A	19: 12,976,861 (GRCm39)	N170K	possibly damaging	Het
Pglyrp2	T	C	17: 32,635,048 (GRCm39)	Y438C	probably damaging	Het
Pigr	G	T	1: 130,775,064 (GRCm39)	W497L	probably damaging	Het
Pkd2l2	G	T	18: 34,549,936 (GRCm39)	V194L	probably benign	Het
Ppp1r16b	A	T	2: 158,538,068 (GRCm39)	K5M	probably damaging	Het
Psat1	A	T	19: 15,898,307 (GRCm39)	S35R	probably damaging	Het
Qrfprl	G	A	6: 65,424,385 (GRCm39)	M126I	probably damaging	Het
Rab11fip1	G	A	8: 27,646,303 (GRCm39)	Q258*	probably null	Het
Rad51d	A	G	11: 82,780,623 (GRCm39)	L53P	probably damaging	Het
Rell2	G	A	18: 38,091,341 (GRCm39)	A169T	probably benign	Het
Rnf19b	T	C	4: 128,976,572 (GRCm39)	I545T	probably benign	Het
Slc12a1	G	T	2: 125,055,999 (GRCm39)	E843D	possibly damaging	Het
Slc1a4	A	G	11: 20,254,346 (GRCm39)	S507P	probably damaging	Het
Slc6a1	G	A	6: 114,290,473 (GRCm39)	W316*	probably null	Het
Spesp1	A	G	9: 62,180,152 (GRCm39)	L252P	probably damaging	Het
Sphkap	G	A	1: 83,385,811 (GRCm39)		probably benign	Het
Srcap	A	G	7: 127,141,769 (GRCm39)	T1850A	probably damaging	Het
Supv3l1	T	C	10: 62,266,365 (GRCm39)	T604A	possibly damaging	Het
Tacr1	A	G	6: 82,380,846 (GRCm39)	T86A	possibly damaging	Het
Tenm3	T	C	8: 49,127,451 (GRCm39)	R76G	probably damaging	Het
Tmprss6	C	A	15: 78,330,977 (GRCm39)	A419S	probably damaging	Het
Usp54	T	G	14: 20,612,177 (GRCm39)	I880L	probably benign	Het
Wwp2	T	A	8: 108,275,134 (GRCm39)	V377D	probably damaging	Het
Zfp735	A	T	11: 73,581,159 (GRCm39)	E65D	probably benign	Het
Zfy2	T	C	Y: 2,121,491 (GRCm39)	E134G	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
R4837:Cabp1	UTSW	5	115,311,212 (GRCm39)	missense	probably damaging	1.00
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
R9659:Cabp1	UTSW	5	115,311,187 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CTTCGCACCGGTTTTCAAGC -3'
(R):5'- TGATGGGCCCTAAACTCCTG -3'

Sequencing Primer
(F):5'- ACCGGTTTTCAAGCCCCAC -3'
(R):5'- AGGAGCTGAGAGACGCCTTTC -3'

Posted On

2018-11-06