Mutagenetix > Incidental Mutation

Incidental Mutation 'R7136:Tbl2'

553060

Institutional Source

Beutler Lab

Gene Symbol

Tbl2

Ensembl Gene

ENSMUSG00000005374

Gene Name

transducin (beta)-like 2

Synonyms

C76179, WS-bTRP

MMRRC Submission

045220-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R7136 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135178288-135192727 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 135178682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 31 (W31G)

Ref Sequence

ENSEMBL: ENSMUSP00000115011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005508] [ENSMUST00000139565] [ENSMUST00000152013] [ENSMUST00000153183] [ENSMUST00000201780]

AlphaFold

Q9R099

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005508
AA Change: W31G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005508
Gene: ENSMUSG00000005374
AA Change: W31G

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	50	59	N/A	INTRINSIC
WD40	75	114	1.89e-9	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000139565
AA Change: W31G

SMART Domains

Protein: ENSMUSP00000120685
Gene: ENSMUSG00000005374
AA Change: W31G

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152013

SMART Domains

Protein: ENSMUSP00000118691
Gene: ENSMUSG00000005374

Domain	Start	End	E-Value	Type
low complexity region	15	24	N/A	INTRINSIC
WD40	40	79	1.89e-9	SMART
Blast:WD40	87	126	3e-15	BLAST
WD40	138	177	1.67e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153183
AA Change: W31G

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115011
Gene: ENSMUSG00000005374
AA Change: W31G

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	50	59	N/A	INTRINSIC
WD40	75	114	1.89e-9	SMART
Blast:WD40	122	161	5e-14	BLAST
WD40	173	212	1.67e-1	SMART
WD40	214	253	2.38e1	SMART
WD40	264	303	6.04e-8	SMART
Blast:WD40	313	353	4e-16	BLAST
WD40	358	395	1.28e0	SMART
coiled coil region	411	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201780
AA Change: W31G

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,560,610 (GRCm39)	S262P	probably damaging	Het
Abcc2	A	G	19: 43,825,899 (GRCm39)	E1512G	probably damaging	Het
Abcg2	T	G	6: 58,661,325 (GRCm39)	Y459D	possibly damaging	Het
Amy1	T	C	3: 113,357,248 (GRCm39)	Y197C	probably damaging	Het
Bptf	A	G	11: 106,990,541 (GRCm39)	I516T	probably damaging	Het
Capn12	T	A	7: 28,582,532 (GRCm39)		probably null	Het
Cbln2	T	A	18: 86,734,797 (GRCm39)	L190Q	probably damaging	Het
Ccdc157	C	T	11: 4,098,592 (GRCm39)	E305K	possibly damaging	Het
Ccdc47	A	G	11: 106,095,830 (GRCm39)	S289P	probably benign	Het
Chd3	C	T	11: 69,239,264 (GRCm39)	E1756K	probably null	Het
Chrd	G	T	16: 20,553,272 (GRCm39)	A183S	possibly damaging	Het
Cp	C	T	3: 20,039,822 (GRCm39)	R880*	probably null	Het
Cyp24a1	A	T	2: 170,336,063 (GRCm39)	D191E	probably benign	Het
Dnah1	T	C	14: 31,020,613 (GRCm39)	Y1252C	probably damaging	Het
Eps8l1	A	G	7: 4,480,403 (GRCm39)	D487G	probably damaging	Het
Fam227b	T	G	2: 125,965,948 (GRCm39)	Q159P	probably damaging	Het
Fat3	A	G	9: 16,289,481 (GRCm39)	I14T	probably benign	Het
Fbxl19	C	A	7: 127,349,217 (GRCm39)	T129N	possibly damaging	Het
Fuca2	T	C	10: 13,381,665 (GRCm39)	F193L	probably benign	Het
H2-Q1	T	C	17: 35,539,603 (GRCm39)		probably null	Het
Hgh1	A	G	15: 76,254,631 (GRCm39)	M336V	probably benign	Het
Il12b	T	C	11: 44,298,857 (GRCm39)	L104P	probably benign	Het
Kcnh2	A	T	5: 24,537,989 (GRCm39)	F125I	probably benign	Het
Kcnk7	A	G	19: 5,756,104 (GRCm39)	H110R	probably benign	Het
Kdm3a	G	A	6: 71,588,764 (GRCm39)	P415L	probably benign	Het
Kifc3	T	C	8: 95,830,077 (GRCm39)	T610A	probably benign	Het
Krbox5	A	G	13: 67,991,111 (GRCm39)		probably null	Het
Lmbr1l	C	A	15: 98,809,372 (GRCm39)		probably null	Het
Lmo7	T	A	14: 102,157,975 (GRCm39)	M1436K	unknown	Het
Lrp1	C	T	10: 127,394,491 (GRCm39)	C2574Y	probably damaging	Het
Med13l	A	G	5: 118,859,587 (GRCm39)	E258G	possibly damaging	Het
Mesp1	T	C	7: 79,442,906 (GRCm39)	I124V	probably damaging	Het
Mrgpra2a	A	T	7: 47,076,934 (GRCm39)	I108N	probably benign	Het
Nos1	G	T	5: 118,033,925 (GRCm39)	R349L	possibly damaging	Het
Or5k3	C	T	16: 58,969,327 (GRCm39)	T38I	probably damaging	Het
Or7c70	T	C	10: 78,683,615 (GRCm39)	I45V	probably benign	Het
Osgin1	T	A	8: 120,168,176 (GRCm39)	M1K	probably null	Het
Pde4dip	C	T	3: 97,601,379 (GRCm39)	S2346N	probably benign	Het
Pde7a	T	C	3: 19,285,258 (GRCm39)	M310V	probably benign	Het
Pigw	G	A	11: 84,768,585 (GRCm39)	T248M	probably damaging	Het
Pink1	T	C	4: 138,044,769 (GRCm39)	T323A	probably damaging	Het
Polr3a	C	T	14: 24,511,883 (GRCm39)	R891Q	probably damaging	Het
Prkar1b	C	A	5: 139,094,363 (GRCm39)	C75F	probably benign	Het
Prss58	C	T	6: 40,876,987 (GRCm39)		probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Pttg1ip2	A	T	5: 5,516,631 (GRCm39)	D63E	possibly damaging	Het
Qars1	T	C	9: 108,389,971 (GRCm39)	I350T	probably damaging	Het
Qprt	T	C	7: 126,707,984 (GRCm39)	K149R	probably damaging	Het
Rasgrf1	T	A	9: 89,873,651 (GRCm39)	D653E	probably damaging	Het
Rbm26	T	C	14: 105,381,703 (GRCm39)	M481V	possibly damaging	Het
Rdx	C	T	9: 51,997,745 (GRCm39)	T573M	probably damaging	Het
Rgs14	A	G	13: 55,527,508 (GRCm39)		probably null	Het
Robo2	T	C	16: 73,753,438 (GRCm39)	E813G	probably damaging	Het
Rrbp1	A	T	2: 143,791,600 (GRCm39)	F1369I	probably benign	Het
Sh2d4b	T	A	14: 40,562,209 (GRCm39)	T319S	probably benign	Het
Slc7a15	G	T	12: 8,588,895 (GRCm39)	N217K	probably damaging	Het
Stmn1	A	G	4: 134,198,088 (GRCm39)	K42E	probably damaging	Het
Tmem8b	T	C	4: 43,669,845 (GRCm39)	C114R	possibly damaging	Het
Tsc2	T	C	17: 24,832,254 (GRCm39)	S711G	probably benign	Het
Ttn	T	C	2: 76,666,904 (GRCm39)	R11531G	unknown	Het
Ube2e3	T	C	2: 78,744,085 (GRCm39)	Y105H	probably benign	Het
Usp16	G	T	16: 87,280,059 (GRCm39)	C753F	probably benign	Het
Vmn1r13	T	C	6: 57,187,239 (GRCm39)	S133P	possibly damaging	Het
Vmn2r76	T	A	7: 85,877,975 (GRCm39)	Q474L	probably benign	Het
Vps52	T	C	17: 34,184,262 (GRCm39)	I601T	probably benign	Het
Wasf1	A	T	10: 40,802,587 (GRCm39)	T81S	possibly damaging	Het
Wdr82	A	G	9: 106,048,532 (GRCm39)	S39G	probably benign	Het
Zdhhc13	A	G	7: 48,451,080 (GRCm39)	I108V	probably benign	Het

Other mutations in Tbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Tbl2	APN	5	135,185,217 (GRCm39)	unclassified	probably benign
IGL02669:Tbl2	APN	5	135,181,852 (GRCm39)	missense	probably damaging	1.00
R1160:Tbl2	UTSW	5	135,188,246 (GRCm39)	missense	probably benign	0.01
R1909:Tbl2	UTSW	5	135,181,845 (GRCm39)	missense	probably damaging	1.00
R1945:Tbl2	UTSW	5	135,186,454 (GRCm39)	missense	possibly damaging	0.56
R2156:Tbl2	UTSW	5	135,185,374 (GRCm39)	critical splice donor site	probably null
R2342:Tbl2	UTSW	5	135,187,607 (GRCm39)	missense	possibly damaging	0.81
R2392:Tbl2	UTSW	5	135,185,368 (GRCm39)	missense	probably benign	0.10
R3813:Tbl2	UTSW	5	135,185,375 (GRCm39)	critical splice donor site	probably null
R5560:Tbl2	UTSW	5	135,186,445 (GRCm39)	nonsense	probably null
R6301:Tbl2	UTSW	5	135,188,223 (GRCm39)	missense	probably benign
R6723:Tbl2	UTSW	5	135,188,130 (GRCm39)	missense	probably damaging	1.00
R6816:Tbl2	UTSW	5	135,188,069 (GRCm39)	splice site	probably null
R7288:Tbl2	UTSW	5	135,183,253 (GRCm39)	missense	possibly damaging	0.92
R7720:Tbl2	UTSW	5	135,188,329 (GRCm39)	missense	probably damaging	1.00
R9488:Tbl2	UTSW	5	135,187,471 (GRCm39)	missense	probably benign	0.09
X0024:Tbl2	UTSW	5	135,188,445 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- ATCGTAACGACTAGGTCCCG -3'
(R):5'- AAGAATCTTGTCCCTGGGGTG -3'

Sequencing Primer
(F):5'- CCAAAGAGGCCAACGCTGG -3'
(R):5'- TCCCTGGGGTGCACCTG -3'

Posted On

2019-05-15