Mutagenetix > Incidental Mutation

Incidental Mutation 'R6294:Tulp2'

508604

Institutional Source

Beutler Lab

Gene Symbol

Tulp2

Ensembl Gene

ENSMUSG00000023467

Gene Name

tubby-like protein 2

Synonyms

MMRRC Submission

044406-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45131450-45173070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45164116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 36 (K36E)

Ref Sequence

ENSEMBL: ENSMUSP00000103391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024233] [ENSMUST00000033096] [ENSMUST00000085331] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000107762] [ENSMUST00000209436] [ENSMUST00000211682] [ENSMUST00000210813] [ENSMUST00000209763] [ENSMUST00000210299] [ENSMUST00000210868] [ENSMUST00000211343] [ENSMUST00000211765] [ENSMUST00000210532]

AlphaFold

P46686

Predicted Effect

probably damaging
Transcript: ENSMUST00000024233
AA Change: K36E

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

SMART Domains

Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: K36E

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: ENSMUST00000033096

SMART Domains

Protein: ENSMUSP00000033096
Gene: ENSMUSG00000030824

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:EF-hand_7	227	319	2.1e-9	PFAM
coiled coil region	340	407	N/A	INTRINSIC
low complexity region	420	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085331

SMART Domains

Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107758

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107759

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107762
AA Change: K36E

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

SMART Domains

Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: K36E

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: ENSMUST00000209436

Predicted Effect

probably benign
Transcript: ENSMUST00000211682

Predicted Effect

probably benign
Transcript: ENSMUST00000210813

Predicted Effect

probably benign
Transcript: ENSMUST00000209763

Predicted Effect

probably benign
Transcript: ENSMUST00000210299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209509

Predicted Effect

probably benign
Transcript: ENSMUST00000210868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211413

Predicted Effect

probably benign
Transcript: ENSMUST00000211343

Predicted Effect

probably benign
Transcript: ENSMUST00000211765

Predicted Effect

probably benign
Transcript: ENSMUST00000210532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210208

Meta Mutation Damage Score

0.1121

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,631,440 (GRCm39)	H579L	probably benign	Het
Aldh2	G	A	5: 121,710,879 (GRCm39)	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,427,446 (GRCm39)	H10Q	probably benign	Het
Arpp21	A	G	9: 111,956,520 (GRCm39)	F453L	probably damaging	Het
Birc6	C	A	17: 74,996,252 (GRCm39)	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,609,069 (GRCm39)	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,815,017 (GRCm39)	I203T	probably damaging	Het
Cat	A	T	2: 103,290,640 (GRCm39)	C425S	probably benign	Het
Ccdc34	A	G	2: 109,848,496 (GRCm39)	D95G	probably benign	Het
Clca4b	T	C	3: 144,630,946 (GRCm39)	S305G	probably null	Het
Cul7	T	C	17: 46,974,074 (GRCm39)	I1453T	probably benign	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986 (GRCm39)	K561T	probably benign	Het
Erbin	T	C	13: 103,993,564 (GRCm39)	T359A	probably benign	Het
Far2	T	A	6: 148,058,980 (GRCm39)	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,577,839 (GRCm39)	E114G	probably benign	Het
Fryl	A	T	5: 73,349,102 (GRCm39)		probably benign	Het
Ggn	A	G	7: 28,873,273 (GRCm39)	D666G	possibly damaging	Het
Hal	G	A	10: 93,350,005 (GRCm39)		probably null	Het
Htt	A	G	5: 34,979,170 (GRCm39)	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,958,218 (GRCm39)	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,800,426 (GRCm39)	S87L	probably damaging	Het
Klhl29	A	T	12: 5,133,995 (GRCm39)	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,602,196 (GRCm39)	Y43N	probably damaging	Het
Krtap20-1	T	A	16: 88,880,989 (GRCm39)	Y7N	unknown	Het
Lama4	T	A	10: 38,951,466 (GRCm39)	F1070L	probably damaging	Het
Map4	A	G	9: 109,831,814 (GRCm39)	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,306,319 (GRCm39)	M581T	probably benign	Het
Mtss2	T	A	8: 111,453,960 (GRCm39)	N43K	possibly damaging	Het
Mylk3	T	A	8: 86,077,012 (GRCm39)	I475F	probably damaging	Het
Nat14	C	T	7: 4,927,073 (GRCm39)	R82*	probably null	Het
Nckap1	T	C	2: 80,371,858 (GRCm39)	N324S	probably benign	Het
Nemp1	C	T	10: 127,530,391 (GRCm39)	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,119,196 (GRCm39)	H425Q	probably benign	Het
Omd	T	A	13: 49,743,467 (GRCm39)	N172K	probably damaging	Het
Or10c1	T	C	17: 37,522,517 (GRCm39)	T76A	probably benign	Het
Or12d12	T	A	17: 37,610,444 (GRCm39)	T290S	probably benign	Het
Or4f62	A	G	2: 111,986,364 (GRCm39)	I23V	probably benign	Het
Or52a33	A	G	7: 103,288,798 (GRCm39)	M183T	probably damaging	Het
Or52r1c	A	T	7: 102,734,874 (GRCm39)	I45F	probably benign	Het
Or5b123	T	C	19: 13,596,730 (GRCm39)	V25A	probably benign	Het
Orc1	T	C	4: 108,447,867 (GRCm39)	I38T	probably benign	Het
Oxct1	A	G	15: 4,172,304 (GRCm39)	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,715,108 (GRCm39)	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,433,424 (GRCm39)	I3435F	probably damaging	Het
Psg20	C	A	7: 18,416,604 (GRCm39)	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,531 (GRCm39)	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,059,419 (GRCm39)	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,122,273 (GRCm39)	Y372*	probably null	Het
Rell1	G	T	5: 64,097,048 (GRCm39)		probably benign	Het
Rps14	A	G	18: 60,910,033 (GRCm39)	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,441,321 (GRCm39)	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,894,382 (GRCm39)	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,141,621 (GRCm39)		probably null	Het
Slc14a1	T	A	18: 78,153,273 (GRCm39)		probably null	Het
Smad2	A	T	18: 76,422,233 (GRCm39)	N215I	probably benign	Het
Smchd1	A	T	17: 71,677,922 (GRCm39)	N1473K	probably benign	Het
Spag9	A	G	11: 93,984,311 (GRCm39)		probably null	Het
Stk31	A	C	6: 49,394,278 (GRCm39)	R213S	probably benign	Het
Tmod4	A	T	3: 95,035,617 (GRCm39)	Q255L	probably benign	Het
Tnpo1	T	A	13: 99,027,282 (GRCm39)	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,552,587 (GRCm39)	Y206*	probably null	Het
Tulp4	C	T	17: 6,252,094 (GRCm39)	R282C	probably damaging	Het
Unc5b	A	T	10: 60,614,110 (GRCm39)	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,268,567 (GRCm39)	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,640,083 (GRCm39)	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,001,404 (GRCm39)	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,313,688 (GRCm39)	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,569,282 (GRCm39)	F601L	probably benign	Het
Zc3h3	A	T	15: 75,681,417 (GRCm39)	S555T	possibly damaging	Het

Other mutations in Tulp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Tulp2	APN	7	45,171,332 (GRCm39)	missense	probably damaging	1.00
IGL00942:Tulp2	APN	7	45,165,692 (GRCm39)	missense	possibly damaging	0.87
IGL01881:Tulp2	APN	7	45,170,219 (GRCm39)	missense	probably damaging	1.00
IGL03240:Tulp2	APN	7	45,171,734 (GRCm39)	missense	probably damaging	1.00
IGL03242:Tulp2	APN	7	45,171,282 (GRCm39)	missense	probably damaging	0.99
IGL03353:Tulp2	APN	7	45,165,696 (GRCm39)	missense	probably damaging	1.00
R0063:Tulp2	UTSW	7	45,170,284 (GRCm39)	unclassified	probably benign
R0063:Tulp2	UTSW	7	45,170,284 (GRCm39)	unclassified	probably benign
R0306:Tulp2	UTSW	7	45,168,000 (GRCm39)	unclassified	probably benign
R0648:Tulp2	UTSW	7	45,169,210 (GRCm39)	missense	probably damaging	1.00
R0710:Tulp2	UTSW	7	45,170,232 (GRCm39)	missense	possibly damaging	0.92
R1168:Tulp2	UTSW	7	45,167,266 (GRCm39)	missense	probably benign
R1345:Tulp2	UTSW	7	45,168,145 (GRCm39)	missense	probably benign	0.13
R1737:Tulp2	UTSW	7	45,169,201 (GRCm39)	missense	probably damaging	1.00
R1854:Tulp2	UTSW	7	45,167,367 (GRCm39)	missense	probably damaging	0.98
R1918:Tulp2	UTSW	7	45,167,365 (GRCm39)	missense	possibly damaging	0.95
R2356:Tulp2	UTSW	7	45,168,052 (GRCm39)	missense	possibly damaging	0.85
R3012:Tulp2	UTSW	7	45,168,187 (GRCm39)	missense	probably damaging	1.00
R3419:Tulp2	UTSW	7	45,168,176 (GRCm39)	missense	possibly damaging	0.56
R4236:Tulp2	UTSW	7	45,171,298 (GRCm39)	missense	probably damaging	1.00
R4701:Tulp2	UTSW	7	45,167,348 (GRCm39)	missense	probably damaging	0.98
R5367:Tulp2	UTSW	7	45,166,075 (GRCm39)	missense	possibly damaging	0.95
R6056:Tulp2	UTSW	7	45,139,797 (GRCm39)	splice site	probably null
R6432:Tulp2	UTSW	7	45,168,012 (GRCm39)	missense	probably benign	0.01
R6875:Tulp2	UTSW	7	45,168,038 (GRCm39)	missense	probably benign	0.05
R7459:Tulp2	UTSW	7	45,169,227 (GRCm39)	missense	probably damaging	1.00
R7556:Tulp2	UTSW	7	45,168,005 (GRCm39)	splice site	probably null
R7676:Tulp2	UTSW	7	45,170,451 (GRCm39)	missense	possibly damaging	0.86
R7883:Tulp2	UTSW	7	45,166,188 (GRCm39)	splice site	probably null
R8775:Tulp2	UTSW	7	45,164,914 (GRCm39)	missense	probably benign
R8775-TAIL:Tulp2	UTSW	7	45,164,914 (GRCm39)	missense	probably benign
R8804:Tulp2	UTSW	7	45,170,398 (GRCm39)	missense	probably damaging	1.00
Z1088:Tulp2	UTSW	7	45,171,410 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAGGGTCCTAAAATGGGG -3'
(R):5'- TCAAGCTGCACGTTTGAGAG -3'

Sequencing Primer
(F):5'- AGCAGATAAATGGCCTAAAAAGTTC -3'
(R):5'- TGCACGTTTGAGAGCCAGG -3'

Posted On

2018-03-15