Mutagenetix > Incidental Mutation

Incidental Mutation 'R4714:Necab2'

353448

Institutional Source

Beutler Lab

Gene Symbol

Necab2

Ensembl Gene

ENSMUSG00000031837

Gene Name

N-terminal EF-hand calcium binding protein 2

Synonyms

Necab2, Efcbp2

MMRRC Submission

041956-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120173458-120199379 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120194334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 270 (L270P)

Ref Sequence

ENSEMBL: ENSMUSP00000095966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098363]

AlphaFold

Q91ZP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098363
AA Change: L270P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095966
Gene: ENSMUSG00000031837
AA Change: L270P

Domain	Start	End	E-Value	Type
low complexity region	50	66	N/A	INTRINSIC
EFh	67	95	4.06e-2	SMART
EFh	101	129	3.21e0	SMART
low complexity region	185	196	N/A	INTRINSIC
Pfam:ABM	289	363	2.1e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131074
AA Change: L247P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148328

SMART Domains

Protein: ENSMUSP00000120157
Gene: ENSMUSG00000031837

Domain	Start	End	E-Value	Type
low complexity region	73	84	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spermatid gigantism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4930486L24Rik	A	G	13: 60,992,132 (GRCm39)	V298A	probably damaging	Het
Abca12	A	G	1: 71,360,609 (GRCm39)	V534A	probably benign	Het
Abcb4	A	G	5: 8,980,906 (GRCm39)		probably null	Het
Adam30	A	T	3: 98,070,170 (GRCm39)	S668C	probably damaging	Het
Ap1g1	T	A	8: 110,556,252 (GRCm39)	V196D	probably damaging	Het
Atp11b	G	A	3: 35,888,543 (GRCm39)	V738I	probably benign	Het
Cast	C	T	13: 74,946,834 (GRCm39)	V27I	probably damaging	Het
Cfap54	A	G	10: 92,651,780 (GRCm39)	I3090T	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Champ1	T	C	8: 13,928,063 (GRCm39)	Y74H	probably damaging	Het
Cpm	T	C	10: 117,511,890 (GRCm39)	I278T	probably damaging	Het
Dcaf15	T	C	8: 84,828,845 (GRCm39)	T141A	probably benign	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Defb8	A	G	8: 19,497,575 (GRCm39)	L12P	probably damaging	Het
Dlg1	A	T	16: 31,609,079 (GRCm39)	I225F	probably damaging	Het
Dync2h1	G	T	9: 7,118,932 (GRCm39)	H2178N	possibly damaging	Het
Enam	A	G	5: 88,651,395 (GRCm39)	E893G	probably damaging	Het
Flt4	T	A	11: 49,518,034 (GRCm39)	L358Q	probably damaging	Het
Frmpd1	A	G	4: 45,284,785 (GRCm39)	Q1202R	probably benign	Het
Ghr	T	A	15: 3,349,879 (GRCm39)	D433V	possibly damaging	Het
Grm7	G	A	6: 111,057,383 (GRCm39)	D328N	possibly damaging	Het
Haus4	T	C	14: 54,779,577 (GRCm39)	D349G	probably benign	Het
Helz	T	C	11: 107,517,542 (GRCm39)		probably null	Het
Hif3a	A	G	7: 16,790,196 (GRCm39)	L69P	probably damaging	Het
Ifit1	A	G	19: 34,625,563 (GRCm39)	E233G	probably damaging	Het
Kcnc2	T	C	10: 112,291,733 (GRCm39)	F307S	possibly damaging	Het
Lrp1b	A	T	2: 41,000,771 (GRCm39)	V2151E	possibly damaging	Het
Lrp5	T	C	19: 3,709,454 (GRCm39)	N92S	probably damaging	Het
Metrnl	C	T	11: 121,606,839 (GRCm39)	A216V	probably damaging	Het
Msh2	A	G	17: 88,026,217 (GRCm39)	T732A	probably damaging	Het
Noc3l	T	C	19: 38,804,157 (GRCm39)	K74E	probably benign	Het
Oas2	A	T	5: 120,871,537 (GRCm39)	L702Q	probably damaging	Het
Or1j1	A	T	2: 36,703,047 (GRCm39)	I19N	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or4k1	A	G	14: 50,377,436 (GRCm39)	I220T	possibly damaging	Het
Or4k6	C	A	14: 50,475,824 (GRCm39)	V173L	possibly damaging	Het
Or6c216	A	T	10: 129,678,814 (GRCm39)	N32K	probably damaging	Het
Pax6	A	G	2: 105,525,745 (GRCm39)	H376R	possibly damaging	Het
Pnkd	C	T	1: 74,390,941 (GRCm39)	R376C	probably damaging	Het
Pnpla8	T	C	12: 44,342,696 (GRCm39)	F484S	probably damaging	Het
Psme4	T	A	11: 30,782,573 (GRCm39)	H909Q	probably benign	Het
Rasip1	CGG	CGGG	7: 45,281,820 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,182,395 (GRCm39)	Y413N	probably damaging	Het
Rnf123	A	G	9: 107,929,638 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,461,412 (GRCm39)	M259K	possibly damaging	Het
Sohlh2	A	G	3: 55,097,950 (GRCm39)	H134R	probably benign	Het
Sorbs2	A	G	8: 46,248,330 (GRCm39)	D447G	possibly damaging	Het
Tank	C	T	2: 61,480,573 (GRCm39)	P370S	probably benign	Het
Tenm4	A	G	7: 96,544,131 (GRCm39)	E2049G	probably damaging	Het
Tnik	A	G	3: 28,648,226 (GRCm39)	H426R	possibly damaging	Het
Trpm6	C	A	19: 18,831,564 (GRCm39)	S1476R	possibly damaging	Het
Trpm7	G	A	2: 126,682,703 (GRCm39)	Q389*	probably null	Het
Ttc28	G	A	5: 111,433,095 (GRCm39)	R2043Q	possibly damaging	Het
Tymp	A	G	15: 89,260,510 (GRCm39)	S103P	probably damaging	Het
Usp40	C	T	1: 87,894,901 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,685,977 (GRCm39)	N147Y	probably damaging	Het
Vmn2r89	T	C	14: 51,689,688 (GRCm39)	S64P	probably damaging	Het
Vps13a	A	T	19: 16,727,220 (GRCm39)	D229E	probably benign	Het
Vps52	A	G	17: 34,180,153 (GRCm39)	I354V	probably benign	Het
Zbtb8os	T	C	4: 129,235,557 (GRCm39)	F90L	probably damaging	Het
Zfp36l1	T	C	12: 80,157,270 (GRCm39)	D37G	possibly damaging	Het
Zfp467	A	G	6: 48,404,751 (GRCm39)	S109P	unknown	Het
Zzef1	T	A	11: 72,728,038 (GRCm39)	C535S	probably damaging	Het

Other mutations in Necab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Necab2	APN	8	120,189,315 (GRCm39)	missense	probably benign	0.00
IGL02232:Necab2	APN	8	120,189,391 (GRCm39)	missense	probably damaging	0.96
R0411:Necab2	UTSW	8	120,180,979 (GRCm39)	splice site	probably benign
R0715:Necab2	UTSW	8	120,197,670 (GRCm39)	missense	probably damaging	1.00
R4751:Necab2	UTSW	8	120,194,337 (GRCm39)	missense	probably benign	0.00
R5443:Necab2	UTSW	8	120,195,032 (GRCm39)	missense	probably benign	0.39
R6916:Necab2	UTSW	8	120,194,355 (GRCm39)	missense	probably damaging	0.98
R7056:Necab2	UTSW	8	120,178,878 (GRCm39)	missense	probably benign	0.09
R7822:Necab2	UTSW	8	120,181,103 (GRCm39)	missense	probably damaging	1.00
R8853:Necab2	UTSW	8	120,189,339 (GRCm39)	missense	possibly damaging	0.76
R9132:Necab2	UTSW	8	120,189,303 (GRCm39)	missense	probably damaging	0.99
R9159:Necab2	UTSW	8	120,189,303 (GRCm39)	missense	probably damaging	0.99
R9371:Necab2	UTSW	8	120,173,923 (GRCm39)	missense	probably benign	0.00
R9660:Necab2	UTSW	8	120,189,403 (GRCm39)	missense	possibly damaging	0.83
R9711:Necab2	UTSW	8	120,198,513 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAAGTAGCCTGTCCACTAGG -3'
(R):5'- CACCGTCTGATGACTGACAG -3'

Sequencing Primer
(F):5'- TGTCCACTAGGCCTGGC -3'
(R):5'- TATCAGTCTCAGAGCCTCAGC -3'

Posted On

2015-10-21