Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Nbeal2'

545703

Institutional Source

Beutler Lab

Gene Symbol

Nbeal2

Ensembl Gene

ENSMUSG00000056724

Gene Name

neurobeachin-like 2

Synonyms

1110014F23Rik

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R7022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110453857-110483229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110467686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 501 (R501W)

Ref Sequence

ENSEMBL: ENSMUSP00000143265 (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 damaging
Transcript: ENSMUST00000133191
AA Change: R528W

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

SMART Domains

Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: R528W

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

probably damaging
Transcript: ENSMUST00000149089
AA Change: R494W

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

SMART Domains

Protein: ENSMUSP00000119254
Gene: ENSMUSG00000056724
AA Change: R494W

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

probably damaging
Transcript: ENSMUST00000167320
AA Change: R528W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: R528W

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

probably damaging
Transcript: ENSMUST00000196488
AA Change: R501W

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

SMART Domains

Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: R501W

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,974,326 (GRCm39)	S203T	probably damaging	Het
Adat1	A	T	8: 112,716,494 (GRCm39)	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,014,780 (GRCm39)	V56L	probably benign	Het
Ascc3	T	A	10: 50,592,725 (GRCm39)	L1134I	possibly damaging	Het
C3	T	G	17: 57,524,286 (GRCm39)	D948A	probably damaging	Het
Ccdc121rt3	A	C	5: 112,503,395 (GRCm39)	M103R	probably benign	Het
Ccdc40	A	G	11: 119,122,612 (GRCm39)	E138G	possibly damaging	Het
Cd80	A	G	16: 38,306,866 (GRCm39)		probably null	Het
Cdca7	T	A	2: 72,309,873 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,079,030 (GRCm39)	S447G	probably benign	Het
Cmya5	C	T	13: 93,205,786 (GRCm39)		probably null	Het
Cnnm2	A	T	19: 46,750,989 (GRCm39)	I260F	probably damaging	Het
Cnnm2	T	A	19: 46,847,379 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,534,639 (GRCm39)	L881P	unknown	Het
Crebbp	A	T	16: 3,935,187 (GRCm39)	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,321,637 (GRCm39)	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,370,005 (GRCm39)	P4477S	probably benign	Het
Donson	A	G	16: 91,478,218 (GRCm39)	Y428H	probably damaging	Het
Dsp	G	T	13: 38,375,716 (GRCm39)	W1167L	probably benign	Het
Elmo2	C	T	2: 165,136,961 (GRCm39)	V592M	probably damaging	Het
Enpp3	T	A	10: 24,702,093 (GRCm39)	E60D	probably damaging	Het
Erfl	A	T	7: 24,631,089 (GRCm39)		probably null	Het
Fam83b	TAAGA	T	9: 76,409,394 (GRCm39)		probably null	Het
Fbxo38	A	G	18: 62,669,295 (GRCm39)	C52R	probably damaging	Het
Gm10912	T	C	2: 103,897,055 (GRCm39)	W65R	probably damaging	Het
Gm43518	A	T	5: 124,074,490 (GRCm39)	M44L	probably benign	Het
Gnb1	T	A	4: 155,637,913 (GRCm39)	D212E	probably damaging	Het
Gnl1	A	G	17: 36,299,620 (GRCm39)	N597S	probably damaging	Het
Gprin1	T	G	13: 54,886,855 (GRCm39)	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,586,834 (GRCm39)	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,496,193 (GRCm39)	S29P	probably damaging	Het
Ints6	A	G	14: 62,951,786 (GRCm39)	V232A	probably damaging	Het
Jup	A	G	11: 100,270,379 (GRCm39)	L376P	probably damaging	Het
Kdr	A	T	5: 76,132,920 (GRCm39)	Y119*	probably null	Het
Kif1a	T	G	1: 92,993,820 (GRCm39)	T377P	probably benign	Het
Lama5	C	A	2: 179,822,524 (GRCm39)	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,313,552 (GRCm39)	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,356,763 (GRCm39)	Q255*	probably null	Het
Msh3	A	C	13: 92,372,096 (GRCm39)	D891E	probably damaging	Het
Msl2	A	G	9: 100,957,335 (GRCm39)	N2D	possibly damaging	Het
Myo19	T	C	11: 84,791,373 (GRCm39)	L476P	probably damaging	Het
Nfasc	C	A	1: 132,548,787 (GRCm39)	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,987,319 (GRCm39)	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,401,825 (GRCm39)	D34E	probably damaging	Het
Nup205	T	A	6: 35,220,871 (GRCm39)	V1891D	probably benign	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Or5g29	T	A	2: 85,420,942 (GRCm39)	D19E	probably benign	Het
Or5k1b	T	C	16: 58,581,482 (GRCm39)	N19S	probably benign	Het
Or8g22	G	T	9: 38,958,379 (GRCm39)	C156*	probably null	Het
Oscp1	G	A	4: 125,976,783 (GRCm39)		probably null	Het
Pcdhgb7	A	G	18: 37,886,086 (GRCm39)	T419A	probably damaging	Het
Pdzph1	T	C	17: 59,281,121 (GRCm39)	D387G	probably benign	Het
Phc1	A	G	6: 122,311,990 (GRCm39)	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,599,061 (GRCm39)	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,398,752 (GRCm39)	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,206,738 (GRCm39)	L250Q	probably damaging	Het
Ror1	T	A	4: 100,265,108 (GRCm39)	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,799,722 (GRCm39)		probably null	Het
Rundc3b	T	C	5: 8,562,348 (GRCm39)	K340R	probably null	Het
Scn1a	T	A	2: 66,148,243 (GRCm39)	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,080,412 (GRCm39)		probably null	Het
Skic2	A	G	17: 35,064,183 (GRCm39)	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,041,979 (GRCm39)	M114K	probably damaging	Het
Sorl1	A	C	9: 41,881,047 (GRCm39)	I2158S	probably benign	Het
Strip1	A	T	3: 107,534,111 (GRCm39)	F174L	probably benign	Het
Sucnr1	A	T	3: 59,993,699 (GRCm39)	I76L	probably benign	Het
Syt17	C	T	7: 118,007,242 (GRCm39)	V412I	probably benign	Het
Tie1	T	A	4: 118,346,850 (GRCm39)	H18L	probably benign	Het
Tpp1	T	G	7: 105,398,129 (GRCm39)	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,148,852 (GRCm39)	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,499,742 (GRCm39)	N260S	probably benign	Het
Vps41	C	A	13: 19,026,438 (GRCm39)	T512K	possibly damaging	Het
Vps52	A	T	17: 34,178,293 (GRCm39)	M147L	probably benign	Het
Ywhaq	A	G	12: 21,441,752 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,184,387 (GRCm39)	N139S	probably benign	Het

Other mutations in Nbeal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Nbeal2	APN	9	110,464,937 (GRCm39)	missense	probably damaging	1.00
IGL00784:Nbeal2	APN	9	110,458,831 (GRCm39)	splice site	probably benign
IGL00826:Nbeal2	APN	9	110,455,971 (GRCm39)	missense	probably benign
IGL00885:Nbeal2	APN	9	110,467,729 (GRCm39)	missense	probably damaging	1.00
IGL01348:Nbeal2	APN	9	110,458,214 (GRCm39)	missense	probably damaging	0.99
IGL01511:Nbeal2	APN	9	110,458,302 (GRCm39)	missense	probably damaging	1.00
IGL01571:Nbeal2	APN	9	110,461,826 (GRCm39)	missense	possibly damaging	0.63
IGL01612:Nbeal2	APN	9	110,473,746 (GRCm39)	missense	probably damaging	1.00
IGL01924:Nbeal2	APN	9	110,460,482 (GRCm39)	missense	probably benign	0.23
IGL02056:Nbeal2	APN	9	110,456,392 (GRCm39)	missense	probably benign	0.17
IGL02481:Nbeal2	APN	9	110,455,063 (GRCm39)	nonsense	probably null
IGL02483:Nbeal2	APN	9	110,455,063 (GRCm39)	nonsense	probably null
IGL02502:Nbeal2	APN	9	110,462,836 (GRCm39)	missense	probably damaging	1.00
IGL02631:Nbeal2	APN	9	110,459,276 (GRCm39)	missense	probably damaging	0.99
IGL02637:Nbeal2	APN	9	110,455,045 (GRCm39)	missense	possibly damaging	0.62
IGL02727:Nbeal2	APN	9	110,468,353 (GRCm39)	splice site	probably benign
IGL02887:Nbeal2	APN	9	110,457,344 (GRCm39)	missense	probably damaging	1.00
IGL02896:Nbeal2	APN	9	110,468,360 (GRCm39)	critical splice donor site	probably null
IGL03110:Nbeal2	APN	9	110,460,501 (GRCm39)	missense	probably damaging	1.00
Antonym	UTSW	9	110,459,320 (GRCm39)	missense	probably damaging	1.00
Beowulf	UTSW	9	110,467,005 (GRCm39)	missense	possibly damaging	0.65
Blackmail	UTSW	9	110,458,707 (GRCm39)	missense	probably damaging	1.00
dog	UTSW	9	110,464,409 (GRCm39)	missense	possibly damaging	0.89
extortion	UTSW	9	110,459,311 (GRCm39)	missense	probably damaging	1.00
legion	UTSW	9	110,458,247 (GRCm39)	missense	probably damaging	1.00
litigious	UTSW	9	110,457,263 (GRCm39)	missense	probably damaging	1.00
mall	UTSW	9	110,461,954 (GRCm39)	missense	probably damaging	1.00
Mollusca	UTSW	9	110,474,506 (GRCm39)	splice site	probably null
Schleuter	UTSW	9	110,457,812 (GRCm39)	missense	possibly damaging	0.69
shellfish	UTSW	9	110,457,788 (GRCm39)	missense	probably damaging	1.00
Sophomoric	UTSW	9	110,462,115 (GRCm39)	missense	probably damaging	1.00
F5770:Nbeal2	UTSW	9	110,467,005 (GRCm39)	missense	possibly damaging	0.65
R0032:Nbeal2	UTSW	9	110,466,936 (GRCm39)	splice site	probably benign
R0084:Nbeal2	UTSW	9	110,472,778 (GRCm39)	critical splice donor site	probably null
R0147:Nbeal2	UTSW	9	110,471,211 (GRCm39)	nonsense	probably null
R0294:Nbeal2	UTSW	9	110,461,927 (GRCm39)	missense	probably damaging	1.00
R0310:Nbeal2	UTSW	9	110,467,231 (GRCm39)	missense	probably damaging	1.00
R0494:Nbeal2	UTSW	9	110,456,255 (GRCm39)	missense	probably damaging	1.00
R0550:Nbeal2	UTSW	9	110,471,226 (GRCm39)	missense	probably benign	0.01
R0630:Nbeal2	UTSW	9	110,465,102 (GRCm39)	splice site	probably benign
R0762:Nbeal2	UTSW	9	110,472,876 (GRCm39)	splice site	probably benign
R0862:Nbeal2	UTSW	9	110,457,263 (GRCm39)	missense	probably damaging	1.00
R0864:Nbeal2	UTSW	9	110,457,263 (GRCm39)	missense	probably damaging	1.00
R1225:Nbeal2	UTSW	9	110,461,954 (GRCm39)	missense	probably damaging	1.00
R1240:Nbeal2	UTSW	9	110,456,176 (GRCm39)	missense	probably damaging	0.98
R1450:Nbeal2	UTSW	9	110,462,740 (GRCm39)	splice site	probably benign
R1519:Nbeal2	UTSW	9	110,465,373 (GRCm39)	missense	probably damaging	1.00
R1655:Nbeal2	UTSW	9	110,461,940 (GRCm39)	missense	probably damaging	1.00
R1668:Nbeal2	UTSW	9	110,467,961 (GRCm39)	missense	probably damaging	1.00
R1705:Nbeal2	UTSW	9	110,454,264 (GRCm39)	missense	probably damaging	1.00
R1784:Nbeal2	UTSW	9	110,459,925 (GRCm39)	nonsense	probably null
R1834:Nbeal2	UTSW	9	110,456,197 (GRCm39)	missense	probably damaging	1.00
R1997:Nbeal2	UTSW	9	110,461,266 (GRCm39)	missense	probably damaging	1.00
R2013:Nbeal2	UTSW	9	110,463,139 (GRCm39)	missense	probably benign	0.09
R2014:Nbeal2	UTSW	9	110,463,139 (GRCm39)	missense	probably benign	0.09
R2055:Nbeal2	UTSW	9	110,464,375 (GRCm39)	missense	possibly damaging	0.92
R2086:Nbeal2	UTSW	9	110,463,139 (GRCm39)	missense	probably benign	0.09
R2113:Nbeal2	UTSW	9	110,454,474 (GRCm39)	missense	probably damaging	1.00
R2167:Nbeal2	UTSW	9	110,467,376 (GRCm39)	missense	probably damaging	1.00
R2201:Nbeal2	UTSW	9	110,459,318 (GRCm39)	missense	probably benign	0.16
R2309:Nbeal2	UTSW	9	110,455,638 (GRCm39)	missense	probably damaging	1.00
R2378:Nbeal2	UTSW	9	110,459,876 (GRCm39)	missense	probably damaging	0.99
R2945:Nbeal2	UTSW	9	110,457,136 (GRCm39)	missense	possibly damaging	0.82
R3052:Nbeal2	UTSW	9	110,462,153 (GRCm39)	missense	possibly damaging	0.93
R3076:Nbeal2	UTSW	9	110,460,768 (GRCm39)	missense	probably damaging	1.00
R3176:Nbeal2	UTSW	9	110,465,955 (GRCm39)	splice site	probably benign
R3974:Nbeal2	UTSW	9	110,462,914 (GRCm39)	missense	probably damaging	1.00
R4183:Nbeal2	UTSW	9	110,465,743 (GRCm39)	missense	probably benign
R4342:Nbeal2	UTSW	9	110,460,861 (GRCm39)	intron	probably benign
R4654:Nbeal2	UTSW	9	110,461,072 (GRCm39)	missense	probably damaging	1.00
R4707:Nbeal2	UTSW	9	110,461,123 (GRCm39)	missense	probably benign	0.10
R4822:Nbeal2	UTSW	9	110,465,383 (GRCm39)	missense	possibly damaging	0.82
R4854:Nbeal2	UTSW	9	110,460,464 (GRCm39)	missense	probably damaging	1.00
R4860:Nbeal2	UTSW	9	110,464,262 (GRCm39)	missense	probably benign	0.00
R4860:Nbeal2	UTSW	9	110,464,262 (GRCm39)	missense	probably benign	0.00
R4990:Nbeal2	UTSW	9	110,463,871 (GRCm39)	missense	probably benign	0.10
R4991:Nbeal2	UTSW	9	110,467,835 (GRCm39)	missense	probably damaging	1.00
R5021:Nbeal2	UTSW	9	110,466,531 (GRCm39)	missense	probably damaging	0.99
R5057:Nbeal2	UTSW	9	110,460,073 (GRCm39)	missense	probably damaging	1.00
R5092:Nbeal2	UTSW	9	110,455,796 (GRCm39)	splice site	probably null
R5161:Nbeal2	UTSW	9	110,458,936 (GRCm39)	missense	probably benign
R5202:Nbeal2	UTSW	9	110,473,734 (GRCm39)	missense	probably damaging	0.99
R5217:Nbeal2	UTSW	9	110,461,158 (GRCm39)	missense	possibly damaging	0.56
R5408:Nbeal2	UTSW	9	110,466,588 (GRCm39)	missense	possibly damaging	0.91
R5540:Nbeal2	UTSW	9	110,460,801 (GRCm39)	missense	probably damaging	1.00
R5866:Nbeal2	UTSW	9	110,460,560 (GRCm39)	missense	probably damaging	1.00
R5925:Nbeal2	UTSW	9	110,458,948 (GRCm39)	missense	probably benign	0.00
R6057:Nbeal2	UTSW	9	110,470,945 (GRCm39)	missense	possibly damaging	0.81
R6180:Nbeal2	UTSW	9	110,454,215 (GRCm39)	missense	probably damaging	1.00
R6191:Nbeal2	UTSW	9	110,457,058 (GRCm39)	critical splice donor site	probably null
R6232:Nbeal2	UTSW	9	110,467,802 (GRCm39)	missense	probably damaging	1.00
R6372:Nbeal2	UTSW	9	110,457,812 (GRCm39)	missense	possibly damaging	0.69
R6423:Nbeal2	UTSW	9	110,455,062 (GRCm39)	missense	probably damaging	1.00
R6543:Nbeal2	UTSW	9	110,473,526 (GRCm39)	missense	probably benign
R6648:Nbeal2	UTSW	9	110,466,710 (GRCm39)	missense	probably damaging	1.00
R6722:Nbeal2	UTSW	9	110,462,060 (GRCm39)	missense	probably damaging	1.00
R6738:Nbeal2	UTSW	9	110,465,973 (GRCm39)	missense	possibly damaging	0.93
R6916:Nbeal2	UTSW	9	110,455,176 (GRCm39)	missense	probably damaging	1.00
R6935:Nbeal2	UTSW	9	110,468,459 (GRCm39)	missense	probably damaging	1.00
R7023:Nbeal2	UTSW	9	110,467,686 (GRCm39)	missense	probably damaging	1.00
R7050:Nbeal2	UTSW	9	110,457,788 (GRCm39)	missense	probably damaging	1.00
R7072:Nbeal2	UTSW	9	110,455,119 (GRCm39)	missense	probably benign	0.01
R7073:Nbeal2	UTSW	9	110,455,177 (GRCm39)	missense	probably damaging	0.99
R7099:Nbeal2	UTSW	9	110,474,506 (GRCm39)	splice site	probably null
R7354:Nbeal2	UTSW	9	110,458,247 (GRCm39)	missense	probably damaging	1.00
R7394:Nbeal2	UTSW	9	110,459,257 (GRCm39)	critical splice donor site	probably null
R7397:Nbeal2	UTSW	9	110,457,100 (GRCm39)	missense	possibly damaging	0.78
R7552:Nbeal2	UTSW	9	110,482,985 (GRCm39)	missense	probably benign	0.16
R7619:Nbeal2	UTSW	9	110,454,886 (GRCm39)	missense	probably benign	0.19
R7821:Nbeal2	UTSW	9	110,459,320 (GRCm39)	missense	probably damaging	1.00
R7902:Nbeal2	UTSW	9	110,466,615 (GRCm39)	missense	probably benign
R7923:Nbeal2	UTSW	9	110,460,514 (GRCm39)	nonsense	probably null
R8018:Nbeal2	UTSW	9	110,458,225 (GRCm39)	unclassified	probably benign
R8190:Nbeal2	UTSW	9	110,455,158 (GRCm39)	missense	probably benign	0.04
R8297:Nbeal2	UTSW	9	110,464,409 (GRCm39)	missense	possibly damaging	0.89
R8404:Nbeal2	UTSW	9	110,463,457 (GRCm39)	missense	possibly damaging	0.48
R8502:Nbeal2	UTSW	9	110,463,457 (GRCm39)	missense	possibly damaging	0.48
R8737:Nbeal2	UTSW	9	110,456,949 (GRCm39)	missense	probably damaging	1.00
R8782:Nbeal2	UTSW	9	110,459,873 (GRCm39)	missense	probably benign	0.04
R8807:Nbeal2	UTSW	9	110,458,707 (GRCm39)	missense	probably damaging	1.00
R8877:Nbeal2	UTSW	9	110,459,311 (GRCm39)	missense	probably damaging	1.00
R9057:Nbeal2	UTSW	9	110,456,218 (GRCm39)	missense	probably benign
R9267:Nbeal2	UTSW	9	110,462,115 (GRCm39)	missense	probably damaging	1.00
R9313:Nbeal2	UTSW	9	110,463,436 (GRCm39)	missense	probably damaging	1.00
R9352:Nbeal2	UTSW	9	110,456,916 (GRCm39)	missense	probably benign	0.03
R9482:Nbeal2	UTSW	9	110,463,066 (GRCm39)	missense	probably benign	0.25
R9533:Nbeal2	UTSW	9	110,473,729 (GRCm39)	missense	probably benign	0.01
R9566:Nbeal2	UTSW	9	110,457,989 (GRCm39)	missense	probably benign	0.00
R9769:Nbeal2	UTSW	9	110,455,347 (GRCm39)	missense	probably benign	0.01
V7583:Nbeal2	UTSW	9	110,467,005 (GRCm39)	missense	possibly damaging	0.65
X0017:Nbeal2	UTSW	9	110,473,346 (GRCm39)	missense	probably benign	0.02
X0065:Nbeal2	UTSW	9	110,473,481 (GRCm39)	splice site	probably benign
Z1088:Nbeal2	UTSW	9	110,461,440 (GRCm39)	missense	possibly damaging	0.51
Z1176:Nbeal2	UTSW	9	110,467,903 (GRCm39)	missense	probably benign
Z1176:Nbeal2	UTSW	9	110,454,884 (GRCm39)	missense	probably benign	0.01
Z1177:Nbeal2	UTSW	9	110,458,922 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGGAAGGTAAAGCCGGCTC -3'
(R):5'- CTTTCCACCTACAGGCTGTG -3'

Sequencing Primer
(F):5'- GCACCATGATGCCAGCCATG -3'
(R):5'- TGCTGATGCAGTGGCTACCAG -3'

Posted On

2019-05-13