Mutagenetix > Incidental Mutation

Incidental Mutation 'R2697:Cabp7'

251208

Institutional Source

Beutler Lab

Gene Symbol

Cabp7

Ensembl Gene

ENSMUSG00000009075

Gene Name

calcium binding protein 7

Synonyms

calneuron II

MMRRC Submission

040435-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R2697 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

4686892-4696778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4688837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 211 (R211H)

Ref Sequence

ENSEMBL: ENSMUSP00000009219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009219] [ENSMUST00000009220]

AlphaFold

Q91ZM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000009219
AA Change: R211H

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

SMART Domains

Protein: ENSMUSP00000009219
Gene: ENSMUSG00000009075
AA Change: R211H

Domain	Start	End	E-Value	Type
EFh	37	65	1.21e-9	SMART
EFh	73	101	4.56e-5	SMART
transmembrane domain	188	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000009220

SMART Domains

Protein: ENSMUSP00000009220
Gene: ENSMUSG00000009076

Domain	Start	End	E-Value	Type
Pfam:zf-U1	2	38	6.5e-10	PFAM
ZnF_C3H1	52	78	2.3e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154341

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,619 (GRCm39)	S46G	unknown	Het
Acaca	T	A	11: 84,255,239 (GRCm39)	D1932E	probably damaging	Het
Adam7	A	T	14: 68,752,232 (GRCm39)	C417*	probably null	Het
Adgrl4	A	C	3: 151,216,260 (GRCm39)	Q481P	probably damaging	Het
Adra2c	C	A	5: 35,438,042 (GRCm39)	N271K	probably benign	Het
Ahctf1	T	C	1: 179,580,097 (GRCm39)	K2035R	probably damaging	Het
Ano3	T	C	2: 110,625,305 (GRCm39)	T182A	possibly damaging	Het
Armc3	T	C	2: 19,308,746 (GRCm39)	Y805H	probably damaging	Het
BC024139	TCCACCACCACCACCACCAC	TCCACCACCACCACCAC	15: 76,004,393 (GRCm39)		probably benign	Het
Ccdc117	T	C	11: 5,484,888 (GRCm39)	N112S	possibly damaging	Het
Cep120	C	T	18: 53,873,197 (GRCm39)	D45N	probably benign	Het
Cpsf1	T	C	15: 76,483,529 (GRCm39)	Y872C	probably damaging	Het
Cradd	A	G	10: 95,011,807 (GRCm39)	L111P	probably damaging	Het
Crhr2	A	G	6: 55,079,815 (GRCm39)	L155P	probably damaging	Het
Fgd2	A	T	17: 29,595,895 (GRCm39)	T518S	probably damaging	Het
Gpam	C	T	19: 55,071,641 (GRCm39)	E367K	probably damaging	Het
Gtf3c1	T	A	7: 125,243,126 (GRCm39)	N1826I	probably damaging	Het
Kcnq5	T	C	1: 21,549,656 (GRCm39)	E357G	probably damaging	Het
Krt1	T	A	15: 101,755,364 (GRCm39)	D465V	probably damaging	Het
Lcor	T	A	19: 41,572,466 (GRCm39)	V407E	probably benign	Het
Macrod1	T	C	19: 7,174,157 (GRCm39)	V221A	probably damaging	Het
Mbd1	T	C	18: 74,406,688 (GRCm39)	S144P	possibly damaging	Het
Mtfmt	T	C	9: 65,359,303 (GRCm39)	V326A	probably benign	Het
Myo1b	T	C	1: 51,902,517 (GRCm39)	D71G	probably benign	Het
Myo1h	A	G	5: 114,493,274 (GRCm39)	Y705C	probably damaging	Het
Nudt9	T	C	5: 104,212,859 (GRCm39)	W311R	probably damaging	Het
Or11g27	C	T	14: 50,771,238 (GRCm39)	A123V	probably damaging	Het
Or2a57	A	T	6: 43,213,060 (GRCm39)	I173F	probably damaging	Het
Or2h15	A	G	17: 38,441,900 (GRCm39)	F61S	probably damaging	Het
Or6c65	G	A	10: 129,603,793 (GRCm39)	V143I	probably benign	Het
Osbp2	A	T	11: 3,813,407 (GRCm39)	L154Q	probably benign	Het
P3h1	A	G	4: 119,104,377 (GRCm39)	T633A	probably damaging	Het
Polq	T	G	16: 36,862,515 (GRCm39)	L616R	probably damaging	Het
Pon3	A	G	6: 5,232,429 (GRCm39)	L197S	possibly damaging	Het
Rap1gds1	C	T	3: 138,689,482 (GRCm39)		probably null	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rfng	C	A	11: 120,674,865 (GRCm39)		probably benign	Het
Rps6ka2	T	G	17: 7,567,721 (GRCm39)	L728R	probably benign	Het
Slc41a3	C	A	6: 90,619,302 (GRCm39)	N360K	possibly damaging	Het
Sult1e1	T	C	5: 87,726,397 (GRCm39)	N239S	probably damaging	Het
Tacr1	T	A	6: 82,469,578 (GRCm39)	I154N	probably damaging	Het
Tacstd2	T	A	6: 67,512,203 (GRCm39)	H163L	probably benign	Het
Tent5a	T	C	9: 85,206,793 (GRCm39)	D335G	possibly damaging	Het
Tiam1	T	C	16: 89,590,052 (GRCm39)	S1382G	probably benign	Het
Tmem43	A	G	6: 91,456,911 (GRCm39)	E164G	possibly damaging	Het
U2af2	G	A	7: 5,070,545 (GRCm39)	R78H	probably benign	Het
Yipf7	T	A	5: 69,698,483 (GRCm39)	D8V	possibly damaging	Het
Zfp58	G	A	13: 67,639,124 (GRCm39)	H456Y	probably damaging	Het
Zfp799	G	A	17: 33,039,214 (GRCm39)	R351*	probably null	Het
Zfyve9	T	C	4: 108,553,016 (GRCm39)	D715G	probably damaging	Het

Other mutations in Cabp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Cabp7	APN	11	4,688,931 (GRCm39)	missense	probably benign	0.00
IGL02852:Cabp7	APN	11	4,688,912 (GRCm39)	missense	probably damaging	1.00
R0746:Cabp7	UTSW	11	4,688,900 (GRCm39)	missense	probably damaging	1.00
R1612:Cabp7	UTSW	11	4,689,198 (GRCm39)	missense	probably damaging	0.99
R4687:Cabp7	UTSW	11	4,689,265 (GRCm39)	nonsense	probably null
R5216:Cabp7	UTSW	11	4,688,873 (GRCm39)	missense	probably damaging	1.00
R6644:Cabp7	UTSW	11	4,690,396 (GRCm39)	missense	probably benign	0.00
R7046:Cabp7	UTSW	11	4,688,886 (GRCm39)	missense	probably damaging	0.99
R7270:Cabp7	UTSW	11	4,696,676 (GRCm39)	missense	possibly damaging	0.64
R7422:Cabp7	UTSW	11	4,688,856 (GRCm39)	missense	probably damaging	1.00
R7806:Cabp7	UTSW	11	4,688,889 (GRCm39)	missense	probably damaging	1.00
R8928:Cabp7	UTSW	11	4,696,640 (GRCm39)	missense	possibly damaging	0.80
R9587:Cabp7	UTSW	11	4,688,865 (GRCm39)	missense	probably damaging	1.00
Z1176:Cabp7	UTSW	11	4,696,669 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGCTACACACAGGCCAGG -3'
(R):5'- GTGCAGCTCTGATTCCATCC -3'

Sequencing Primer
(F):5'- TAGGGCTGTCCTCAAAGCCAC -3'
(R):5'- AGCTCTGATTCCATCCCTTCG -3'

Posted On

2014-12-04