Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Nbeal2'

372428

Institutional Source

Beutler Lab

Gene Symbol

Nbeal2

Ensembl Gene

ENSMUSG00000056724

Gene Name

neurobeachin-like 2

Synonyms

1110014F23Rik

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110624789-110654161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110635194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1128 (T1128I)

Ref Sequence

ENSEMBL: ENSMUSP00000128586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133191] [ENSMUST00000149089] [ENSMUST00000167320] [ENSMUST00000196488]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000123996

Predicted Effect

probably benign
Transcript: ENSMUST00000130024

SMART Domains

Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
low complexity region	236	248	N/A	INTRINSIC
Pfam:DUF4704	345	607	2.5e-29	PFAM
low complexity region	649	664	N/A	INTRINSIC
low complexity region	804	819	N/A	INTRINSIC
Pfam:DUF4800	872	1138	9.9e-113	PFAM
low complexity region	1164	1193	N/A	INTRINSIC
Pfam:PH_BEACH	1204	1291	2.2e-21	PFAM
Beach	1343	1623	5.2e-205	SMART
WD40	1721	1766	1.03e1	SMART
WD40	1769	1808	6.19e-5	SMART
WD40	1820	1859	1.02e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131017

SMART Domains

Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724

Domain	Start	End	E-Value	Type
Pfam:DUF4800	1	209	7.5e-97	PFAM
low complexity region	235	264	N/A	INTRINSIC
Pfam:PH_BEACH	275	362	1e-21	PFAM
Beach	414	694	5.2e-205	SMART
WD40	762	807	1.03e1	SMART
WD40	810	849	6.19e-5	SMART
WD40	861	900	1.02e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133191
AA Change: T1128I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: T1128I

Domain	Start	End	E-Value	Type
low complexity region	56	84	N/A	INTRINSIC
low complexity region	192	201	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	527	542	N/A	INTRINSIC
Pfam:Laminin_G_3	578	818	5.9e-8	PFAM
low complexity region	1014	1028	N/A	INTRINSIC
low complexity region	1128	1136	N/A	INTRINSIC
low complexity region	1149	1163	N/A	INTRINSIC
low complexity region	1359	1375	N/A	INTRINSIC
low complexity region	1515	1530	N/A	INTRINSIC
low complexity region	1621	1647	N/A	INTRINSIC
low complexity region	1875	1904	N/A	INTRINSIC
Pfam:PH_BEACH	1908	2002	6.2e-28	PFAM
Beach	2054	2334	5.2e-205	SMART
WD40	2432	2477	1.03e1	SMART
WD40	2480	2519	6.19e-5	SMART
WD40	2531	2570	1.02e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138072

Predicted Effect

probably benign
Transcript: ENSMUST00000149089

SMART Domains

Protein: ENSMUSP00000119254
Gene: ENSMUSG00000056724

Domain	Start	End	E-Value	Type
low complexity region	49	77	N/A	INTRINSIC
low complexity region	185	194	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
low complexity region	480	488	N/A	INTRINSIC
low complexity region	493	508	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153960

Predicted Effect

probably benign
Transcript: ENSMUST00000167320
AA Change: T1128I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: T1128I

Domain	Start	End	E-Value	Type
low complexity region	56	84	N/A	INTRINSIC
low complexity region	192	201	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC
low complexity region	527	542	N/A	INTRINSIC
low complexity region	763	775	N/A	INTRINSIC
Pfam:DUF4704	872	1148	9.2e-32	PFAM
low complexity region	1149	1163	N/A	INTRINSIC
low complexity region	1366	1382	N/A	INTRINSIC
low complexity region	1522	1537	N/A	INTRINSIC
Pfam:DUF4800	1590	1856	1.5e-112	PFAM
low complexity region	1882	1911	N/A	INTRINSIC
Pfam:PH_BEACH	1922	2009	3.1e-21	PFAM
Beach	2061	2341	5.2e-205	SMART
WD40	2439	2484	1.03e1	SMART
WD40	2487	2526	6.19e-5	SMART
WD40	2538	2577	1.02e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184024

Predicted Effect

probably benign
Transcript: ENSMUST00000196488
AA Change: T1101I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: T1101I

Domain	Start	End	E-Value	Type
low complexity region	56	84	N/A	INTRINSIC
low complexity region	192	201	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
low complexity region	487	495	N/A	INTRINSIC
low complexity region	500	515	N/A	INTRINSIC
Pfam:Laminin_G_3	551	791	5.3e-6	PFAM
low complexity region	987	1001	N/A	INTRINSIC
low complexity region	1101	1109	N/A	INTRINSIC
low complexity region	1122	1136	N/A	INTRINSIC
low complexity region	1332	1348	N/A	INTRINSIC
low complexity region	1488	1503	N/A	INTRINSIC
low complexity region	1594	1620	N/A	INTRINSIC
low complexity region	1848	1877	N/A	INTRINSIC
Pfam:PH_BEACH	1881	1975	3.1e-25	PFAM
Beach	2027	2307	3.8e-209	SMART
WD40	2405	2450	6.3e-2	SMART
WD40	2453	2492	3.8e-7	SMART
WD40	2504	2543	6.5e-8	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

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 contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice exhibit megakaryocyte and platelet abnormalities resulting in impaired arterial thrombus formation and protection from infarction following cerebral ischemia. Wound repair is impaired. These abnormalities result in a bleeding disorder similiar to Gray Platelet Syndrome. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,423 (GRCm38)	S466P	possibly damaging	Het
1700061G19Rik	A	G	17: 56,888,655 (GRCm38)	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145 (GRCm38)	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866 (GRCm38)	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499 (GRCm38)	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927 (GRCm38)	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368 (GRCm38)	E41G	probably benign	Het
Akr1d1	G	A	6: 37,564,491 (GRCm38)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674 (GRCm38)	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066 (GRCm38)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095 (GRCm38)	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720 (GRCm38)	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700 (GRCm38)	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396 (GRCm38)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm38)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,167 (GRCm38)	E731G	probably damaging	Het
Ctsh	A	G	9: 90,054,548 (GRCm38)	E26G	probably benign	Het
Cul1	G	T	6: 47,517,146 (GRCm38)	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191 (GRCm38)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232 (GRCm38)	D373E	probably benign	Het
Ddx58	G	T	4: 40,210,000 (GRCm38)	S644R	probably damaging	Het
Dhcr7	A	G	7: 143,840,500 (GRCm38)	Q126R	probably benign	Het
Dok2	T	C	14: 70,777,516 (GRCm38)	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189 (GRCm38)	I314L	probably benign	Het
Eps8	A	G	6: 137,514,295 (GRCm38)	F362L	probably damaging	Het
Espn	G	T	4: 152,138,846 (GRCm38)	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896 (GRCm38)	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674 (GRCm38)	S36*	probably null	Het
Fam71e2	C	T	7: 4,757,469 (GRCm38)		probably null	Het
Fcho1	C	T	8: 71,710,481 (GRCm38)	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908 (GRCm38)	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753 (GRCm38)	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508 (GRCm38)	Y130*	probably null	Het
Gvin1	A	T	7: 106,163,436 (GRCm38)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818 (GRCm38)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842 (GRCm38)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,867,050 (GRCm38)	I568T	probably benign	Het
Larp6	A	G	9: 60,737,810 (GRCm38)	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337 (GRCm38)	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052 (GRCm38)	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824 (GRCm38)	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750 (GRCm38)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619 (GRCm38)	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640 (GRCm38)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926 (GRCm38)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280 (GRCm38)	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647 (GRCm38)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592 (GRCm38)	N1043S	probably damaging	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Nrg2	T	A	18: 36,196,547 (GRCm38)	Y205F	probably damaging	Het
Nubp2	A	G	17: 24,884,456 (GRCm38)	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957 (GRCm38)	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225 (GRCm38)	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504 (GRCm38)	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456 (GRCm38)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710 (GRCm38)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156 (GRCm38)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,537,378 (GRCm38)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993 (GRCm38)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,990,514 (GRCm38)	T91A	probably benign	Het
Ptger4	G	T	15: 5,242,606 (GRCm38)	N177K	probably benign	Het
Reln	A	G	5: 21,901,751 (GRCm38)	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536 (GRCm38)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744 (GRCm38)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935 (GRCm38)	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602 (GRCm38)	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064 (GRCm38)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883 (GRCm38)	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209 (GRCm38)	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504 (GRCm38)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,337,005 (GRCm38)	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211 (GRCm38)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589 (GRCm38)	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474 (GRCm38)	T586A	probably benign	Het
Tbce	T	A	13: 14,019,795 (GRCm38)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,858,840 (GRCm38)	G504S	probably null	Het
Tle4	A	T	19: 14,464,345 (GRCm38)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm38)	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055 (GRCm38)		probably benign	Het
Tubgcp3	T	C	8: 12,649,722 (GRCm38)	K377R	probably benign	Het
Ush2a	A	T	1: 188,553,275 (GRCm38)	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363 (GRCm38)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756 (GRCm38)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,401,803 (GRCm38)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,275,601 (GRCm38)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,385,843 (GRCm38)	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161 (GRCm38)	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785 (GRCm38)	E103G	possibly damaging	Het
Zfp870	A	T	17: 32,883,340 (GRCm38)	C339*	probably null	Het

Other mutations in Nbeal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Nbeal2	APN	9	110,635,869 (GRCm38)	missense	probably damaging	1.00
IGL00784:Nbeal2	APN	9	110,629,763 (GRCm38)	splice site	probably benign
IGL00826:Nbeal2	APN	9	110,626,903 (GRCm38)	missense	probably benign
IGL00885:Nbeal2	APN	9	110,638,661 (GRCm38)	missense	probably damaging	1.00
IGL01348:Nbeal2	APN	9	110,629,146 (GRCm38)	missense	probably damaging	0.99
IGL01511:Nbeal2	APN	9	110,629,234 (GRCm38)	missense	probably damaging	1.00
IGL01571:Nbeal2	APN	9	110,632,758 (GRCm38)	missense	possibly damaging	0.63
IGL01612:Nbeal2	APN	9	110,644,678 (GRCm38)	missense	probably damaging	1.00
IGL01924:Nbeal2	APN	9	110,631,414 (GRCm38)	missense	probably benign	0.23
IGL02056:Nbeal2	APN	9	110,627,324 (GRCm38)	missense	probably benign	0.17
IGL02481:Nbeal2	APN	9	110,625,995 (GRCm38)	nonsense	probably null
IGL02483:Nbeal2	APN	9	110,625,995 (GRCm38)	nonsense	probably null
IGL02502:Nbeal2	APN	9	110,633,768 (GRCm38)	missense	probably damaging	1.00
IGL02631:Nbeal2	APN	9	110,630,208 (GRCm38)	missense	probably damaging	0.99
IGL02637:Nbeal2	APN	9	110,625,977 (GRCm38)	missense	possibly damaging	0.62
IGL02727:Nbeal2	APN	9	110,639,285 (GRCm38)	splice site	probably benign
IGL02887:Nbeal2	APN	9	110,628,276 (GRCm38)	missense	probably damaging	1.00
IGL02896:Nbeal2	APN	9	110,639,292 (GRCm38)	critical splice donor site	probably null
IGL03110:Nbeal2	APN	9	110,631,433 (GRCm38)	missense	probably damaging	1.00
Antonym	UTSW	9	110,630,252 (GRCm38)	missense	probably damaging	1.00
Beowulf	UTSW	9	110,637,937 (GRCm38)	missense	possibly damaging	0.65
Blackmail	UTSW	9	110,629,639 (GRCm38)	missense	probably damaging	1.00
dog	UTSW	9	110,635,341 (GRCm38)	missense	possibly damaging	0.89
extortion	UTSW	9	110,630,243 (GRCm38)	missense	probably damaging	1.00
legion	UTSW	9	110,629,179 (GRCm38)	missense	probably damaging	1.00
litigious	UTSW	9	110,628,195 (GRCm38)	missense	probably damaging	1.00
mall	UTSW	9	110,632,886 (GRCm38)	missense	probably damaging	1.00
Mollusca	UTSW	9	110,645,438 (GRCm38)	splice site	probably null
Schleuter	UTSW	9	110,628,744 (GRCm38)	missense	possibly damaging	0.69
shellfish	UTSW	9	110,628,720 (GRCm38)	missense	probably damaging	1.00
Sophomoric	UTSW	9	110,633,047 (GRCm38)	missense	probably damaging	1.00
F5770:Nbeal2	UTSW	9	110,637,937 (GRCm38)	missense	possibly damaging	0.65
R0032:Nbeal2	UTSW	9	110,637,868 (GRCm38)	splice site	probably benign
R0084:Nbeal2	UTSW	9	110,643,710 (GRCm38)	critical splice donor site	probably null
R0147:Nbeal2	UTSW	9	110,642,143 (GRCm38)	nonsense	probably null
R0294:Nbeal2	UTSW	9	110,632,859 (GRCm38)	missense	probably damaging	1.00
R0310:Nbeal2	UTSW	9	110,638,163 (GRCm38)	missense	probably damaging	1.00
R0494:Nbeal2	UTSW	9	110,627,187 (GRCm38)	missense	probably damaging	1.00
R0550:Nbeal2	UTSW	9	110,642,158 (GRCm38)	missense	probably benign	0.01
R0630:Nbeal2	UTSW	9	110,636,034 (GRCm38)	splice site	probably benign
R0762:Nbeal2	UTSW	9	110,643,808 (GRCm38)	splice site	probably benign
R0862:Nbeal2	UTSW	9	110,628,195 (GRCm38)	missense	probably damaging	1.00
R0864:Nbeal2	UTSW	9	110,628,195 (GRCm38)	missense	probably damaging	1.00
R1225:Nbeal2	UTSW	9	110,632,886 (GRCm38)	missense	probably damaging	1.00
R1240:Nbeal2	UTSW	9	110,627,108 (GRCm38)	missense	probably damaging	0.98
R1450:Nbeal2	UTSW	9	110,633,672 (GRCm38)	splice site	probably benign
R1519:Nbeal2	UTSW	9	110,636,305 (GRCm38)	missense	probably damaging	1.00
R1655:Nbeal2	UTSW	9	110,632,872 (GRCm38)	missense	probably damaging	1.00
R1668:Nbeal2	UTSW	9	110,638,893 (GRCm38)	missense	probably damaging	1.00
R1705:Nbeal2	UTSW	9	110,625,196 (GRCm38)	missense	probably damaging	1.00
R1784:Nbeal2	UTSW	9	110,630,857 (GRCm38)	nonsense	probably null
R1834:Nbeal2	UTSW	9	110,627,129 (GRCm38)	missense	probably damaging	1.00
R1997:Nbeal2	UTSW	9	110,632,198 (GRCm38)	missense	probably damaging	1.00
R2013:Nbeal2	UTSW	9	110,634,071 (GRCm38)	missense	probably benign	0.09
R2014:Nbeal2	UTSW	9	110,634,071 (GRCm38)	missense	probably benign	0.09
R2055:Nbeal2	UTSW	9	110,635,307 (GRCm38)	missense	possibly damaging	0.92
R2086:Nbeal2	UTSW	9	110,634,071 (GRCm38)	missense	probably benign	0.09
R2113:Nbeal2	UTSW	9	110,625,406 (GRCm38)	missense	probably damaging	1.00
R2167:Nbeal2	UTSW	9	110,638,308 (GRCm38)	missense	probably damaging	1.00
R2201:Nbeal2	UTSW	9	110,630,250 (GRCm38)	missense	probably benign	0.16
R2309:Nbeal2	UTSW	9	110,626,570 (GRCm38)	missense	probably damaging	1.00
R2378:Nbeal2	UTSW	9	110,630,808 (GRCm38)	missense	probably damaging	0.99
R2945:Nbeal2	UTSW	9	110,628,068 (GRCm38)	missense	possibly damaging	0.82
R3052:Nbeal2	UTSW	9	110,633,085 (GRCm38)	missense	possibly damaging	0.93
R3076:Nbeal2	UTSW	9	110,631,700 (GRCm38)	missense	probably damaging	1.00
R3176:Nbeal2	UTSW	9	110,636,887 (GRCm38)	splice site	probably benign
R3974:Nbeal2	UTSW	9	110,633,846 (GRCm38)	missense	probably damaging	1.00
R4183:Nbeal2	UTSW	9	110,636,675 (GRCm38)	missense	probably benign
R4342:Nbeal2	UTSW	9	110,631,793 (GRCm38)	intron	probably benign
R4654:Nbeal2	UTSW	9	110,632,004 (GRCm38)	missense	probably damaging	1.00
R4707:Nbeal2	UTSW	9	110,632,055 (GRCm38)	missense	probably benign	0.10
R4822:Nbeal2	UTSW	9	110,636,315 (GRCm38)	missense	possibly damaging	0.82
R4854:Nbeal2	UTSW	9	110,631,396 (GRCm38)	missense	probably damaging	1.00
R4860:Nbeal2	UTSW	9	110,635,194 (GRCm38)	missense	probably benign	0.00
R4990:Nbeal2	UTSW	9	110,634,803 (GRCm38)	missense	probably benign	0.10
R4991:Nbeal2	UTSW	9	110,638,767 (GRCm38)	missense	probably damaging	1.00
R5021:Nbeal2	UTSW	9	110,637,463 (GRCm38)	missense	probably damaging	0.99
R5057:Nbeal2	UTSW	9	110,631,005 (GRCm38)	missense	probably damaging	1.00
R5092:Nbeal2	UTSW	9	110,626,728 (GRCm38)	splice site	probably null
R5161:Nbeal2	UTSW	9	110,629,868 (GRCm38)	missense	probably benign
R5202:Nbeal2	UTSW	9	110,644,666 (GRCm38)	missense	probably damaging	0.99
R5217:Nbeal2	UTSW	9	110,632,090 (GRCm38)	missense	possibly damaging	0.56
R5408:Nbeal2	UTSW	9	110,637,520 (GRCm38)	missense	possibly damaging	0.91
R5540:Nbeal2	UTSW	9	110,631,733 (GRCm38)	missense	probably damaging	1.00
R5866:Nbeal2	UTSW	9	110,631,492 (GRCm38)	missense	probably damaging	1.00
R5925:Nbeal2	UTSW	9	110,629,880 (GRCm38)	missense	probably benign	0.00
R6057:Nbeal2	UTSW	9	110,641,877 (GRCm38)	missense	possibly damaging	0.81
R6180:Nbeal2	UTSW	9	110,625,147 (GRCm38)	missense	probably damaging	1.00
R6191:Nbeal2	UTSW	9	110,627,990 (GRCm38)	critical splice donor site	probably null
R6232:Nbeal2	UTSW	9	110,638,734 (GRCm38)	missense	probably damaging	1.00
R6372:Nbeal2	UTSW	9	110,628,744 (GRCm38)	missense	possibly damaging	0.69
R6423:Nbeal2	UTSW	9	110,625,994 (GRCm38)	missense	probably damaging	1.00
R6543:Nbeal2	UTSW	9	110,644,458 (GRCm38)	missense	probably benign
R6648:Nbeal2	UTSW	9	110,637,642 (GRCm38)	missense	probably damaging	1.00
R6722:Nbeal2	UTSW	9	110,632,992 (GRCm38)	missense	probably damaging	1.00
R6738:Nbeal2	UTSW	9	110,636,905 (GRCm38)	missense	possibly damaging	0.93
R6916:Nbeal2	UTSW	9	110,626,108 (GRCm38)	missense	probably damaging	1.00
R6935:Nbeal2	UTSW	9	110,639,391 (GRCm38)	missense	probably damaging	1.00
R7022:Nbeal2	UTSW	9	110,638,618 (GRCm38)	missense	probably damaging	1.00
R7023:Nbeal2	UTSW	9	110,638,618 (GRCm38)	missense	probably damaging	1.00
R7050:Nbeal2	UTSW	9	110,628,720 (GRCm38)	missense	probably damaging	1.00
R7072:Nbeal2	UTSW	9	110,626,051 (GRCm38)	missense	probably benign	0.01
R7073:Nbeal2	UTSW	9	110,626,109 (GRCm38)	missense	probably damaging	0.99
R7099:Nbeal2	UTSW	9	110,645,438 (GRCm38)	splice site	probably null
R7354:Nbeal2	UTSW	9	110,629,179 (GRCm38)	missense	probably damaging	1.00
R7394:Nbeal2	UTSW	9	110,630,189 (GRCm38)	critical splice donor site	probably null
R7397:Nbeal2	UTSW	9	110,628,032 (GRCm38)	missense	possibly damaging	0.78
R7552:Nbeal2	UTSW	9	110,653,917 (GRCm38)	missense	probably benign	0.16
R7619:Nbeal2	UTSW	9	110,625,818 (GRCm38)	missense	probably benign	0.19
R7821:Nbeal2	UTSW	9	110,630,252 (GRCm38)	missense	probably damaging	1.00
R7902:Nbeal2	UTSW	9	110,637,547 (GRCm38)	missense	probably benign
R7923:Nbeal2	UTSW	9	110,631,446 (GRCm38)	nonsense	probably null
R8018:Nbeal2	UTSW	9	110,629,157 (GRCm38)	unclassified	probably benign
R8190:Nbeal2	UTSW	9	110,626,090 (GRCm38)	missense	probably benign	0.04
R8297:Nbeal2	UTSW	9	110,635,341 (GRCm38)	missense	possibly damaging	0.89
R8404:Nbeal2	UTSW	9	110,634,389 (GRCm38)	missense	possibly damaging	0.48
R8502:Nbeal2	UTSW	9	110,634,389 (GRCm38)	missense	possibly damaging	0.48
R8737:Nbeal2	UTSW	9	110,627,881 (GRCm38)	missense	probably damaging	1.00
R8782:Nbeal2	UTSW	9	110,630,805 (GRCm38)	missense	probably benign	0.04
R8807:Nbeal2	UTSW	9	110,629,639 (GRCm38)	missense	probably damaging	1.00
R8877:Nbeal2	UTSW	9	110,630,243 (GRCm38)	missense	probably damaging	1.00
R9057:Nbeal2	UTSW	9	110,627,150 (GRCm38)	missense	probably benign
R9267:Nbeal2	UTSW	9	110,633,047 (GRCm38)	missense	probably damaging	1.00
R9313:Nbeal2	UTSW	9	110,634,368 (GRCm38)	missense	probably damaging	1.00
R9352:Nbeal2	UTSW	9	110,627,848 (GRCm38)	missense	probably benign	0.03
R9482:Nbeal2	UTSW	9	110,633,998 (GRCm38)	missense	probably benign	0.25
R9533:Nbeal2	UTSW	9	110,644,661 (GRCm38)	missense	probably benign	0.01
R9566:Nbeal2	UTSW	9	110,628,921 (GRCm38)	missense	probably benign	0.00
R9769:Nbeal2	UTSW	9	110,626,279 (GRCm38)	missense	probably benign	0.01
V7583:Nbeal2	UTSW	9	110,637,937 (GRCm38)	missense	possibly damaging	0.65
X0017:Nbeal2	UTSW	9	110,644,278 (GRCm38)	missense	probably benign	0.02
X0065:Nbeal2	UTSW	9	110,644,413 (GRCm38)	splice site	probably benign
Z1088:Nbeal2	UTSW	9	110,632,372 (GRCm38)	missense	possibly damaging	0.51
Z1176:Nbeal2	UTSW	9	110,638,835 (GRCm38)	missense	probably benign
Z1176:Nbeal2	UTSW	9	110,625,816 (GRCm38)	missense	probably benign	0.01
Z1177:Nbeal2	UTSW	9	110,629,854 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCCTGTGAAAGTGGCTTTAAAG -3'
(R):5'- CTTCTCGGTGGAAGACATGC -3'

Sequencing Primer
(F):5'- CCTGTGAAAGTGGCTTTAAAGTTTCC -3'
(R):5'- AAGACATGCAGGTTGTATTGAAC -3'

Posted On

2016-03-01