Incidental Mutation 'R5577:Necab3'
ID 437247
Institutional Source Beutler Lab
Gene Symbol Necab3
Ensembl Gene ENSMUSG00000027489
Gene Name N-terminal EF-hand calcium binding protein 3
Synonyms Apba2bp, XB51, 2900010M17Rik, Nip1
MMRRC Submission 043132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R5577 (G1)
Quality Score 129
Status Not validated
Chromosome 2
Chromosomal Location 154386319-154400810 bp(-) (GRCm39)
Type of Mutation splice site (1890 bp from exon)
DNA Base Change (assembly) T to C at 154387076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000895] [ENSMUST00000045116] [ENSMUST00000109709] [ENSMUST00000109716] [ENSMUST00000125793]
AlphaFold Q9D6J4
Predicted Effect probably benign
Transcript: ENSMUST00000000895
AA Change: I349V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489
AA Change: I349V

DomainStartEndE-ValueType
Pfam:EF-hand_1 31 58 7.3e-8 PFAM
Pfam:EF-hand_5 32 57 4.6e-9 PFAM
low complexity region 180 203 N/A INTRINSIC
coiled coil region 209 237 N/A INTRINSIC
Pfam:ABM 252 327 4.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045116
SMART Domains Protein: ENSMUSP00000035523
Gene: ENSMUSG00000038523

DomainStartEndE-ValueType
Pfam:Bclt 1 194 2.1e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109709
SMART Domains Protein: ENSMUSP00000105331
Gene: ENSMUSG00000038523

DomainStartEndE-ValueType
Pfam:Bclt 1 207 1.9e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109716
AA Change: I325V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489
AA Change: I325V

DomainStartEndE-ValueType
Pfam:EF-hand_1 31 59 6.9e-8 PFAM
Pfam:EF-hand_5 32 57 1.7e-9 PFAM
low complexity region 180 203 N/A INTRINSIC
Pfam:ABM 232 303 2.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124382
Predicted Effect probably null
Transcript: ENSMUST00000125793
SMART Domains Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489

DomainStartEndE-ValueType
low complexity region 146 168 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135641
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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 interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,835,826 (GRCm39) Y256D probably damaging Het
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Clmn G T 12: 104,743,329 (GRCm39) S879R probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Eno1 C A 4: 150,331,067 (GRCm39) Y236* probably null Het
Enpp7 T A 11: 118,882,953 (GRCm39) N342K probably benign Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Fshr A T 17: 89,293,351 (GRCm39) D442E probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Myo1e G A 9: 70,277,753 (GRCm39) E817K probably benign Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Ppp2r5d T C 17: 46,998,901 (GRCm39) S54G probably benign Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Sqstm1 T C 11: 50,098,266 (GRCm39) I167V probably benign Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Vmn2r43 T C 7: 8,247,811 (GRCm39) H784R probably damaging Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q probably damaging Het
Other mutations in Necab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Necab3 APN 2 154,389,488 (GRCm39) unclassified probably benign
IGL01515:Necab3 APN 2 154,396,611 (GRCm39) missense probably damaging 1.00
IGL02438:Necab3 APN 2 154,387,964 (GRCm39) missense probably damaging 1.00
IGL03150:Necab3 APN 2 154,396,662 (GRCm39) missense probably damaging 1.00
R0092:Necab3 UTSW 2 154,400,659 (GRCm39) missense possibly damaging 0.89
R0102:Necab3 UTSW 2 154,387,232 (GRCm39) missense probably damaging 1.00
R0102:Necab3 UTSW 2 154,387,232 (GRCm39) missense probably damaging 1.00
R0219:Necab3 UTSW 2 154,388,013 (GRCm39) missense probably benign 0.17
R0656:Necab3 UTSW 2 154,388,223 (GRCm39) missense probably null 0.28
R1728:Necab3 UTSW 2 154,388,795 (GRCm39) missense probably benign 0.09
R1729:Necab3 UTSW 2 154,388,795 (GRCm39) missense probably benign 0.09
R2192:Necab3 UTSW 2 154,388,999 (GRCm39) missense possibly damaging 0.62
R4622:Necab3 UTSW 2 154,397,502 (GRCm39) critical splice donor site probably null
R5434:Necab3 UTSW 2 154,389,379 (GRCm39) missense probably damaging 1.00
R6603:Necab3 UTSW 2 154,396,842 (GRCm39) missense probably damaging 1.00
R7792:Necab3 UTSW 2 154,388,200 (GRCm39) missense probably damaging 1.00
R8195:Necab3 UTSW 2 154,389,363 (GRCm39) missense probably benign 0.05
R8831:Necab3 UTSW 2 154,396,607 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACGGCCTAGCTCCTGATC -3'
(R):5'- AGCAGATGACTCAGCCTCTG -3'

Sequencing Primer
(F):5'- TGATCCCTGGGCTGAGAGAC -3'
(R):5'- AGTCACCCTGCAGCAAGG -3'
Posted On 2016-10-26