Mutagenetix > Incidental Mutation

Incidental Mutation 'R1707:Intu'

190120

Institutional Source

Beutler Lab

Gene Symbol

Intu

Ensembl Gene

ENSMUSG00000060798

Gene Name

inturned planar cell polarity protein

Synonyms

Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik

MMRRC Submission

039740-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40531286-40704774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 40683501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 472 (D472E)

Ref Sequence

ENSEMBL: ENSMUSP00000088725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091186]

AlphaFold

Q059U7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091186
AA Change: D472E

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: D472E

Domain	Start	End	E-Value	Type
low complexity region	21	48	N/A	INTRINSIC
low complexity region	64	81	N/A	INTRINSIC
PDZ	187	269	2.09e-3	SMART
low complexity region	459	468	N/A	INTRINSIC
low complexity region	774	784	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000204176
AA Change: D195E

Meta Mutation Damage Score

0.1428

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

96% (82/85)

MGI Phenotype

PHENOTYPE: Homozygous null mice show defective ciliogenesis and neural tube closure, abnormal patterning of the CNS and limbs, polydactyly, edema and death by E16.5. Homozygotes for a hypomorphic allele show defective ciliation and endochondral ossification, stunted growth, polydactyly and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	T	1: 160,070,802 (GRCm38)		probably benign	Het
4931429P17Rik	A	G	13: 47,961,005 (GRCm38)		noncoding transcript	Het
Acox3	T	A	5: 35,601,564 (GRCm38)	I373N	possibly damaging	Het
Adgrb1	G	T	15: 74,529,343 (GRCm38)	A63S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Aplp2	A	T	9: 31,150,919 (GRCm38)	H692Q	probably damaging	Het
Arhgap24	T	C	5: 102,892,087 (GRCm38)	S297P	probably benign	Het
Arhgap9	C	T	10: 127,328,889 (GRCm38)	P561S	probably benign	Het
Arhgef10l	T	G	4: 140,564,289 (GRCm38)	D62A	probably damaging	Het
Asb14	T	G	14: 26,901,122 (GRCm38)	F150L	probably benign	Het
Atp8b3	A	T	10: 80,521,801 (GRCm38)		probably null	Het
Atrnl1	A	G	19: 57,686,737 (GRCm38)	D686G	probably benign	Het
Bmpr1a	A	T	14: 34,425,141 (GRCm38)		probably benign	Het
C330027C09Rik	A	C	16: 49,018,404 (GRCm38)	Q861H	probably damaging	Het
Cc2d2a	T	A	5: 43,723,688 (GRCm38)		probably null	Het
Ccin	T	A	4: 43,983,947 (GRCm38)	I118N	probably benign	Het
Cd8b1	G	A	6: 71,326,184 (GRCm38)	G81D	probably damaging	Het
Cep126	G	A	9: 8,100,382 (GRCm38)	S717L	probably benign	Het
Colgalt2	C	T	1: 152,400,363 (GRCm38)	R76W	probably damaging	Het
Copg1	A	T	6: 87,905,210 (GRCm38)	T596S	probably benign	Het
Cpb1	G	A	3: 20,275,491 (GRCm38)	R24W	probably damaging	Het
Csad	T	A	15: 102,179,972 (GRCm38)	D134V	probably damaging	Het
Dchs2	A	G	3: 83,127,605 (GRCm38)		probably benign	Het
Ddb2	A	G	2: 91,234,209 (GRCm38)	W119R	probably damaging	Het
Dhx57	A	T	17: 80,275,226 (GRCm38)	S317T	probably damaging	Het
Dlc1	A	G	8: 36,937,609 (GRCm38)	V342A	probably benign	Het
Dpp4	G	A	2: 62,359,335 (GRCm38)		probably benign	Het
Dst	G	T	1: 34,167,646 (GRCm38)	W1005L	probably damaging	Het
Ehmt1	T	C	2: 24,805,138 (GRCm38)	M989V	probably benign	Het
Gm17660	T	A	5: 104,074,233 (GRCm38)		probably benign	Het
Gm5422	G	A	10: 31,248,462 (GRCm38)		noncoding transcript	Het
Gm9944	A	G	4: 144,453,263 (GRCm38)		probably benign	Het
Gtf2ird2	T	C	5: 134,216,987 (GRCm38)	Y696H	probably damaging	Het
H2-M11	T	G	17: 36,548,766 (GRCm38)	V217G	probably damaging	Het
Hrasls	A	G	16: 29,228,226 (GRCm38)	K166E	probably damaging	Het
Hunk	C	T	16: 90,386,407 (GRCm38)		probably benign	Het
Impg1	T	C	9: 80,378,517 (GRCm38)		probably null	Het
Ints11	T	G	4: 155,875,198 (GRCm38)	D87E	probably benign	Het
Kbtbd3	T	A	9: 4,316,985 (GRCm38)	N45K	probably benign	Het
Kif1c	C	T	11: 70,728,397 (GRCm38)	L953F	probably damaging	Het
Klrg2	C	G	6: 38,636,794 (GRCm38)	E91D	possibly damaging	Het
Lamc3	T	C	2: 31,912,129 (GRCm38)		probably null	Het
Magi2	T	G	5: 20,215,493 (GRCm38)	M309R	probably damaging	Het
Magohb	G	A	6: 131,284,637 (GRCm38)	P147S	probably damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm38)	D1043G	probably damaging	Het
Mtmr3	T	C	11: 4,504,095 (GRCm38)	D203G	probably damaging	Het
Mvp	C	T	7: 127,001,572 (GRCm38)	V86I	probably benign	Het
Naip5	A	T	13: 100,242,855 (GRCm38)	F226I	probably damaging	Het
Nasp	T	A	4: 116,618,936 (GRCm38)	Q51L	probably damaging	Het
Nf1	T	A	11: 79,535,604 (GRCm38)	F1594I	probably damaging	Het
Nod2	A	C	8: 88,670,476 (GRCm38)	E816A	possibly damaging	Het
Nom1	G	A	5: 29,435,318 (GRCm38)	S214N	probably damaging	Het
Olfr168	T	C	16: 19,530,177 (GRCm38)	T248A	probably benign	Het
Olfr25	T	A	9: 38,329,901 (GRCm38)	F105I	probably damaging	Het
Parp14	A	C	16: 35,857,849 (GRCm38)	L583R	probably damaging	Het
Pclo	T	C	5: 14,713,224 (GRCm38)	S3904P	unknown	Het
Pkhd1	T	A	1: 20,550,840 (GRCm38)		probably benign	Het
Polr1e	A	C	4: 45,027,469 (GRCm38)	D233A	probably damaging	Het
Prr29	T	C	11: 106,376,683 (GRCm38)	V124A	probably damaging	Het
Rasgrp1	A	T	2: 117,298,547 (GRCm38)	V197E	probably damaging	Het
Rgma	A	T	7: 73,417,959 (GRCm38)	T415S	unknown	Het
Sacs	G	T	14: 61,209,762 (GRCm38)	V3086L	probably benign	Het
Sash1	A	G	10: 8,730,377 (GRCm38)	S750P	probably benign	Het
Sdccag3	T	A	2: 26,387,606 (GRCm38)	N69Y	probably damaging	Het
Sema6a	A	T	18: 47,283,445 (GRCm38)	S372T	probably benign	Het
Sis	A	G	3: 72,909,087 (GRCm38)		probably benign	Het
Skint8	T	A	4: 111,939,572 (GRCm38)	V291D	probably damaging	Het
Slc12a8	A	G	16: 33,551,007 (GRCm38)	N171S	probably damaging	Het
Slc25a40	G	A	5: 8,440,793 (GRCm38)		probably null	Het
Spag6l	A	T	16: 16,780,628 (GRCm38)	I333N	probably benign	Het
Sspo	T	A	6: 48,477,877 (GRCm38)	F2999L	probably damaging	Het
Stambpl1	A	C	19: 34,238,821 (GRCm38)	T363P	probably damaging	Het
Tenm4	A	T	7: 96,888,685 (GRCm38)	N1785Y	probably damaging	Het
Tln2	C	T	9: 67,375,807 (GRCm38)	S293N	probably benign	Het
Tmed3	G	A	9: 89,702,780 (GRCm38)	L141F	probably damaging	Het
Tmem30c	G	T	16: 57,266,480 (GRCm38)	T320K	possibly damaging	Het
Tnn	T	C	1: 160,145,144 (GRCm38)	Y296C	probably damaging	Het
Ttn	C	T	2: 76,790,086 (GRCm38)	A15802T	probably damaging	Het
Usp53	T	C	3: 122,947,400 (GRCm38)	M734V	probably benign	Het
Vmn1r24	A	G	6: 57,956,512 (GRCm38)	I7T	probably benign	Het
Vmn1r74	T	A	7: 11,847,577 (GRCm38)	V268E	probably damaging	Het
Xirp1	A	T	9: 120,018,775 (GRCm38)	H347Q	possibly damaging	Het

Other mutations in Intu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Intu	APN	3	40,664,266 (GRCm38)	missense	probably benign	0.12
IGL01386:Intu	APN	3	40,692,587 (GRCm38)	missense	probably damaging	1.00
IGL02645:Intu	APN	3	40,701,272 (GRCm38)	missense	probably benign	0.01
IGL02869:Intu	APN	3	40,687,786 (GRCm38)	missense	probably damaging	1.00
IGL03263:Intu	APN	3	40,672,597 (GRCm38)	nonsense	probably null
H8562:Intu	UTSW	3	40,692,673 (GRCm38)	missense	probably damaging	1.00
PIT4495001:Intu	UTSW	3	40,697,603 (GRCm38)	missense	probably benign	0.07
R0010:Intu	UTSW	3	40,654,272 (GRCm38)	intron	probably benign
R0173:Intu	UTSW	3	40,675,346 (GRCm38)	critical splice donor site	probably null
R0426:Intu	UTSW	3	40,675,305 (GRCm38)	missense	probably damaging	0.97
R1566:Intu	UTSW	3	40,692,578 (GRCm38)	missense	probably damaging	0.99
R1619:Intu	UTSW	3	40,697,631 (GRCm38)	nonsense	probably null
R1658:Intu	UTSW	3	40,692,781 (GRCm38)	missense	probably benign	0.20
R1701:Intu	UTSW	3	40,664,264 (GRCm38)	missense	probably damaging	1.00
R1707:Intu	UTSW	3	40,540,924 (GRCm38)	missense	probably benign	0.03
R1867:Intu	UTSW	3	40,664,335 (GRCm38)	missense	probably damaging	1.00
R1868:Intu	UTSW	3	40,664,335 (GRCm38)	missense	probably damaging	1.00
R2090:Intu	UTSW	3	40,683,536 (GRCm38)	missense	probably benign	0.00
R2310:Intu	UTSW	3	40,653,813 (GRCm38)	missense	probably benign
R2989:Intu	UTSW	3	40,692,710 (GRCm38)	missense	probably benign	0.11
R4168:Intu	UTSW	3	40,672,623 (GRCm38)	missense	probably benign	0.00
R4530:Intu	UTSW	3	40,683,364 (GRCm38)	missense	possibly damaging	0.95
R5093:Intu	UTSW	3	40,692,917 (GRCm38)	missense	probably benign	0.00
R5541:Intu	UTSW	3	40,692,587 (GRCm38)	splice site	probably null
R5587:Intu	UTSW	3	40,675,308 (GRCm38)	missense	probably damaging	0.99
R5745:Intu	UTSW	3	40,692,972 (GRCm38)	splice site	probably null
R5809:Intu	UTSW	3	40,679,590 (GRCm38)	missense	probably damaging	0.99
R5939:Intu	UTSW	3	40,692,584 (GRCm38)	missense	probably damaging	1.00
R5953:Intu	UTSW	3	40,679,550 (GRCm38)	missense	probably damaging	1.00
R6000:Intu	UTSW	3	40,654,148 (GRCm38)	nonsense	probably null
R6063:Intu	UTSW	3	40,654,094 (GRCm38)	missense	probably damaging	0.97
R6245:Intu	UTSW	3	40,675,326 (GRCm38)	missense	probably damaging	0.98
R6310:Intu	UTSW	3	40,701,291 (GRCm38)	nonsense	probably null
R6353:Intu	UTSW	3	40,653,708 (GRCm38)	missense	probably damaging	1.00
R6451:Intu	UTSW	3	40,701,293 (GRCm38)	missense	possibly damaging	0.94
R6660:Intu	UTSW	3	40,531,951 (GRCm38)	missense	probably benign	0.00
R6848:Intu	UTSW	3	40,694,255 (GRCm38)	missense	probably benign	0.00
R7440:Intu	UTSW	3	40,697,551 (GRCm38)	missense	probably benign	0.04
R7625:Intu	UTSW	3	40,697,599 (GRCm38)	missense	probably benign
R7633:Intu	UTSW	3	40,654,253 (GRCm38)	missense	probably damaging	1.00
R7798:Intu	UTSW	3	40,691,929 (GRCm38)	missense	probably damaging	1.00
R7877:Intu	UTSW	3	40,699,792 (GRCm38)	missense	probably benign	0.07
R7978:Intu	UTSW	3	40,697,639 (GRCm38)	missense	probably damaging	1.00
R8319:Intu	UTSW	3	40,653,772 (GRCm38)	missense	probably damaging	1.00
R8332:Intu	UTSW	3	40,675,289 (GRCm38)	missense	probably benign	0.35
R8860:Intu	UTSW	3	40,672,732 (GRCm38)	missense	probably benign	0.07
R8926:Intu	UTSW	3	40,653,709 (GRCm38)	missense	possibly damaging	0.69
R8946:Intu	UTSW	3	40,683,359 (GRCm38)	missense	possibly damaging	0.93
R9164:Intu	UTSW	3	40,690,703 (GRCm38)	missense	probably damaging	1.00
R9191:Intu	UTSW	3	40,692,511 (GRCm38)	missense	probably damaging	0.99
R9547:Intu	UTSW	3	40,654,106 (GRCm38)	missense	probably benign
Z1177:Intu	UTSW	3	40,697,516 (GRCm38)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GCAGTAGCCGTAACTACAGGAACAG -3'
(R):5'- TCACTGGACCTCCTACTTCAGCAG -3'

Sequencing Primer
(F):5'- AGGAGAGCATCCGTGCTG -3'
(R):5'- Gcacacacacacacacacac -3'

Posted On

2014-05-14