Mutagenetix > Incidental Mutation

Incidental Mutation 'R0746:Cabp7'

70141

Institutional Source

Beutler Lab

Gene Symbol

Cabp7

Ensembl Gene

ENSMUSG00000009075

Gene Name

calcium binding protein 7

Synonyms

calneuron II

MMRRC Submission

038927-MU

Accession Numbers

Essential gene?

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

Stock #

R0746 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

4686892-4696778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4688900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 190 (I190N)

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: I190N

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

SMART Domains

Protein: ENSMUSP00000009219
Gene: ENSMUSG00000009075
AA Change: I190N

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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	T	C	17: 79,935,715 (GRCm39)		probably benign	Het
Acvr1	T	C	2: 58,390,562 (GRCm39)	M1V	probably null	Het
Adamts10	T	A	17: 33,768,521 (GRCm39)	C866*	probably null	Het
Adgrv1	G	A	13: 81,718,675 (GRCm39)	P4S	probably benign	Het
Arhgef37	A	G	18: 61,651,064 (GRCm39)		probably null	Het
Arid4b	A	G	13: 14,317,623 (GRCm39)	T169A	probably benign	Het
Bltp3b	T	A	10: 89,641,316 (GRCm39)	I829K	probably benign	Het
Capn13	A	C	17: 73,658,503 (GRCm39)	D188E	probably benign	Het
Ces1d	A	G	8: 93,916,096 (GRCm39)	F177S	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Csmd2	T	A	4: 128,308,090 (GRCm39)	C1283S	probably damaging	Het
Cul1	T	C	6: 47,495,222 (GRCm39)		probably null	Het
F7	T	G	8: 13,084,740 (GRCm39)	S255R	probably benign	Het
Fanci	T	A	7: 79,089,429 (GRCm39)	I955N	probably damaging	Het
Focad	C	A	4: 88,315,451 (GRCm39)	D1536E	possibly damaging	Het
Fus	A	G	7: 127,584,596 (GRCm39)		probably benign	Het
Gpr146	C	T	5: 139,378,977 (GRCm39)	R260W	probably damaging	Het
Grid1	T	C	14: 34,544,647 (GRCm39)	F73L	possibly damaging	Het
Ilf2	T	A	3: 90,390,114 (GRCm39)	V142D	probably damaging	Het
Kcna2	A	G	3: 107,012,484 (GRCm39)	D355G	probably benign	Het
Mgat4c	T	C	10: 102,224,548 (GRCm39)	F254S	probably damaging	Het
Mrps10	A	C	17: 47,683,564 (GRCm39)	R139S	probably benign	Het
Myh2	A	G	11: 67,064,257 (GRCm39)	T71A	probably benign	Het
Myo1d	A	C	11: 80,477,705 (GRCm39)	Y893D	possibly damaging	Het
Ncapd2	T	C	6: 125,151,227 (GRCm39)	E760G	possibly damaging	Het
Or10ab5	A	T	7: 108,245,248 (GRCm39)	D178E	probably damaging	Het
Or11h6	T	A	14: 50,880,232 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,268,331 (GRCm39)	D3349V	probably damaging	Het
Ptprn2	A	C	12: 116,864,637 (GRCm39)	M551L	probably benign	Het
Ptprq	A	G	10: 107,353,692 (GRCm39)	Y2275H	probably damaging	Het
Rfx7	A	G	9: 72,526,388 (GRCm39)	T1193A	probably benign	Het
Rtl1	T	C	12: 109,559,394 (GRCm39)	D815G	probably damaging	Het
Scn1a	T	A	2: 66,181,470 (GRCm39)	T18S	probably benign	Het
Septin5	T	C	16: 18,441,975 (GRCm39)	H277R	probably damaging	Het
Sh3bp5l	A	G	11: 58,237,173 (GRCm39)	S377G	probably benign	Het
Snx2	T	A	18: 53,330,961 (GRCm39)	I142K	possibly damaging	Het
Spata31d1a	C	A	13: 59,850,077 (GRCm39)	D684Y	possibly damaging	Het
Taar6	C	A	10: 23,861,258 (GRCm39)	S96I	probably benign	Het
Thsd7b	C	A	1: 130,116,268 (GRCm39)	H1340Q	probably benign	Het
Tmem115	C	T	9: 107,415,198 (GRCm39)	T329M	probably benign	Het
Tmem50b	C	T	16: 91,378,578 (GRCm39)		probably null	Het
Wdr64	A	T	1: 175,620,539 (GRCm39)	D316V	possibly damaging	Het
Yars1	C	A	4: 129,091,079 (GRCm39)	S162R	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
R1612:Cabp7	UTSW	11	4,689,198 (GRCm39)	missense	probably damaging	0.99
R2697:Cabp7	UTSW	11	4,688,837 (GRCm39)	missense	probably damaging	1.00
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'- TGGTGGGAAGTGAATGCTACACAC -3'
(R):5'- CACGTACCCAGGGTTTGCATAGAG -3'

Sequencing Primer
(F):5'- CATTGTCCAGGCTCAAAGTG -3'
(R):5'- GCATAGAGGGCCACCTTATGTATC -3'

Posted On

2013-09-30