Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:Tulp2'

592451

Institutional Source

Beutler Lab

Gene Symbol

Tulp2

Ensembl Gene

ENSMUSG00000023467

Gene Name

tubby-like protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45481877-45523632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45521027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 457 (V457F)

Ref Sequence

ENSEMBL: ENSMUSP00000024233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024233] [ENSMUST00000042105] [ENSMUST00000085331] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000107762] [ENSMUST00000167273] [ENSMUST00000209763] [ENSMUST00000210299] [ENSMUST00000210532] [ENSMUST00000210813] [ENSMUST00000210868] [ENSMUST00000211212]

AlphaFold

P46686

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024233
AA Change: V457F

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: V457F

Domain	Start	End	E-Value	Type
low complexity region	67	77	N/A	INTRINSIC
low complexity region	212	220	N/A	INTRINSIC
Pfam:Tub	315	556	1.1e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042105

SMART Domains

Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435

Domain	Start	End	E-Value	Type
low complexity region	149	160	N/A	INTRINSIC
low complexity region	225	234	N/A	INTRINSIC
internal_repeat_1	245	333	1.03e-15	PROSPERO
low complexity region	334	351	N/A	INTRINSIC
internal_repeat_1	357	447	1.03e-15	PROSPERO
low complexity region	448	459	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
Pfam:PP1c_bdg	536	612	8.2e-15	PFAM
low complexity region	636	652	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085331
AA Change: V333F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: V333F

Domain	Start	End	E-Value	Type
low complexity region	88	96	N/A	INTRINSIC
Pfam:Tub	191	432	6.2e-117	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107758
AA Change: V352F

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: V352F

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	451	4.1e-85	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107759
AA Change: V345F

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: V345F

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	444	3.4e-117	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107762
AA Change: V457F

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: V457F

Domain	Start	End	E-Value	Type
Pfam:Tub_N	39	295	8.8e-36	PFAM
Pfam:Tub	315	556	1.3e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167273

SMART Domains

Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435

Domain	Start	End	E-Value	Type
low complexity region	149	160	N/A	INTRINSIC
low complexity region	225	234	N/A	INTRINSIC
internal_repeat_1	245	333	1.03e-15	PROSPERO
low complexity region	334	351	N/A	INTRINSIC
internal_repeat_1	357	447	1.03e-15	PROSPERO
low complexity region	448	459	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
Pfam:PP1c_bdg	531	612	1.1e-20	PFAM
low complexity region	636	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209763

Predicted Effect

probably benign
Transcript: ENSMUST00000210299

Predicted Effect

probably benign
Transcript: ENSMUST00000210532

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210813
AA Change: V352F

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210868
AA Change: V345F

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000211212

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam6a	G	A	12: 113,544,576	G190S	probably benign	Het
Adnp	G	A	2: 168,183,447	R643*	probably null	Het
Akap6	A	G	12: 52,886,850	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,508,111	A480E	probably benign	Het
Ccdc175	T	A	12: 72,102,047	Q779L	possibly damaging	Het
D430042O09Rik	A	G	7: 125,850,377	D897G	probably benign	Het
Dnah7b	T	G	1: 46,234,164	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,344	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,684,087	N255K	probably benign	Het
Efhc1	G	T	1: 20,967,369	G257W	probably damaging	Het
Fars2	C	A	13: 36,205,043	L172I	probably benign	Het
Fat4	T	C	3: 38,891,697	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,428,030	N253Y	probably benign	Het
Foxd3	G	T	4: 99,656,914	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170	D120E	possibly damaging	Het
Ighv10-3	A	G	12: 114,523,679	C41R	probably damaging	Het
Kcnab3	A	G	11: 69,326,727	S16G	probably benign	Het
Keg1	T	G	19: 12,716,045	V154G	probably benign	Het
Lrrc45	G	A	11: 120,720,322	R602H	probably damaging	Het
Ltbp1	A	G	17: 75,291,297	D591G	possibly damaging	Het
Mmp10	T	A	9: 7,503,549	V140D	probably damaging	Het
Nat8f2	A	T	6: 85,868,212	M56K	probably benign	Het
Nckipsd	T	C	9: 108,814,954	F525L	probably damaging	Het
Olfr1328	A	G	4: 118,934,150	S233P	probably damaging	Het
Olfr1406	T	A	1: 173,183,553	K294*	probably null	Het
Olfr804	G	T	10: 129,705,286	S136I	possibly damaging	Het
P2ry12	T	A	3: 59,217,757	M166L	possibly damaging	Het
Palm3	T	C	8: 84,029,445	S529P	possibly damaging	Het
Pdilt	A	T	7: 119,494,997	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,720,362	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,962,708	V166I		Het
Plxdc2	C	T	2: 16,712,083	S377L	probably benign	Het
Rc3h2	A	T	2: 37,405,332	V224E	possibly damaging	Het
Stk32c	T	A	7: 139,105,304	D428V	possibly damaging	Het
Ttn	T	C	2: 76,814,607	D12968G	probably damaging	Het
Vcan	A	T	13: 89,691,789	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,129,455	Y118H	probably benign	Het
Zfat	A	C	15: 68,224,844	V40G	possibly damaging	Het

Other mutations in Tulp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Tulp2	APN	7	45521908	missense	probably damaging	1.00
IGL00942:Tulp2	APN	7	45516268	missense	possibly damaging	0.87
IGL01881:Tulp2	APN	7	45520795	missense	probably damaging	1.00
IGL03240:Tulp2	APN	7	45522310	missense	probably damaging	1.00
IGL03242:Tulp2	APN	7	45521858	missense	probably damaging	0.99
IGL03353:Tulp2	APN	7	45516272	missense	probably damaging	1.00
R0063:Tulp2	UTSW	7	45520860	unclassified	probably benign
R0063:Tulp2	UTSW	7	45520860	unclassified	probably benign
R0306:Tulp2	UTSW	7	45518576	unclassified	probably benign
R0648:Tulp2	UTSW	7	45519786	missense	probably damaging	1.00
R0710:Tulp2	UTSW	7	45520808	missense	possibly damaging	0.92
R1168:Tulp2	UTSW	7	45517842	missense	probably benign
R1345:Tulp2	UTSW	7	45518721	missense	probably benign	0.13
R1737:Tulp2	UTSW	7	45519777	missense	probably damaging	1.00
R1854:Tulp2	UTSW	7	45517943	missense	probably damaging	0.98
R1918:Tulp2	UTSW	7	45517941	missense	possibly damaging	0.95
R2356:Tulp2	UTSW	7	45518628	missense	possibly damaging	0.85
R3012:Tulp2	UTSW	7	45518763	missense	probably damaging	1.00
R3419:Tulp2	UTSW	7	45518752	missense	possibly damaging	0.56
R4236:Tulp2	UTSW	7	45521874	missense	probably damaging	1.00
R4701:Tulp2	UTSW	7	45517924	missense	probably damaging	0.98
R5367:Tulp2	UTSW	7	45516651	missense	possibly damaging	0.95
R6056:Tulp2	UTSW	7	45490373	splice site	probably null
R6294:Tulp2	UTSW	7	45514692	missense	probably damaging	1.00
R6432:Tulp2	UTSW	7	45518588	missense	probably benign	0.01
R6875:Tulp2	UTSW	7	45518614	missense	probably benign	0.05
R7459:Tulp2	UTSW	7	45519803	missense	probably damaging	1.00
R7556:Tulp2	UTSW	7	45518581	splice site	probably null
R7883:Tulp2	UTSW	7	45516764	splice site	probably null
R8775:Tulp2	UTSW	7	45515490	missense	probably benign
R8775-TAIL:Tulp2	UTSW	7	45515490	missense	probably benign
R8804:Tulp2	UTSW	7	45520974	missense	probably damaging	1.00
Z1088:Tulp2	UTSW	7	45521986	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACCCTGAGCGGAGTTACTG -3'
(R):5'- GGATGGAACTCTGGCAAAGC -3'

Sequencing Primer
(F):5'- TTCCAGACAGTGCCCGGATC -3'
(R):5'- GCCATTCAAGATTCACACATGACCTG -3'

Posted On

2019-11-12