Mutagenetix > Incidental Mutation

Incidental Mutation 'R5809:Intu'

448889

Institutional Source

Beutler Lab

Gene Symbol

Intu

Ensembl Gene

ENSMUSG00000060798

Gene Name

inturned planar cell polarity protein

Synonyms

Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik

MMRRC Submission

043394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40531286-40704774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40679590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 418 (M418L)

Ref Sequence

ENSEMBL: ENSMUSP00000088725 (fasta)

Gene Model

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

AlphaFold

Q059U7

Predicted Effect

probably damaging
Transcript: ENSMUST00000091186
AA Change: M418L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: M418L

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: M141L

Meta Mutation Damage Score

0.1014

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (77/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,708,885	R460G	probably damaging	Het
A230072I06Rik	A	G	8: 12,279,556	S4G	unknown	Het
AA623943	T	C	11: 94,813,002		noncoding transcript	Het
Abca13	T	A	11: 9,293,692	S1852T	probably damaging	Het
Ackr2	G	A	9: 121,909,474	C305Y	probably damaging	Het
Aebp1	T	C	11: 5,870,257	V411A	probably benign	Het
Akp3	G	A	1: 87,126,548	R269H	probably benign	Het
Alox15	C	A	11: 70,350,882	G58W	probably damaging	Het
Ankle2	A	G	5: 110,237,990	N369S	probably damaging	Het
Ankrd28	T	A	14: 31,743,354	I289L	probably benign	Het
Atp13a4	T	A	16: 29,433,987	T714S	possibly damaging	Het
Birc6	A	C	17: 74,670,374	N4388T	probably damaging	Het
Blm	A	T	7: 80,464,844	L1159Q	probably damaging	Het
Caskin1	G	A	17: 24,504,547	V770I	probably benign	Het
Ccdc148	T	A	2: 58,823,645	H498L	probably damaging	Het
Cdh26	T	A	2: 178,460,126	Y179*	probably null	Het
Cela2a	T	A	4: 141,825,553	T38S	probably benign	Het
Cep350	A	T	1: 155,933,341	N496K	probably damaging	Het
Cep89	A	G	7: 35,417,726	Y251C	probably damaging	Het
Cluh	T	C	11: 74,661,700	S524P	probably damaging	Het
Cpeb4	T	C	11: 31,872,801	S172P	probably damaging	Het
Ctnnd2	T	C	15: 30,847,377	S705P	probably damaging	Het
D730048I06Rik	C	T	9: 35,789,001	C96Y	probably damaging	Het
Dock2	T	G	11: 34,262,445	D1232A	probably benign	Het
Donson	T	C	16: 91,687,850	N9S	possibly damaging	Het
Gdf9	T	C	11: 53,433,554	L50P	probably benign	Het
Gm10300	C	T	4: 132,075,147		probably benign	Het
Gm8369	A	G	19: 11,504,884		probably benign	Het
Gm8674	T	A	13: 49,901,888		noncoding transcript	Het
Hepacam	T	A	9: 37,384,805	S417R	possibly damaging	Het
Hibch	T	A	1: 52,853,700	L23Q	probably benign	Het
Hmcn1	G	A	1: 150,649,607	R3389C	probably damaging	Het
Hsp90ab1	G	T	17: 45,570,649		probably benign	Het
Hunk	C	A	16: 90,475,903	T365K	probably damaging	Het
Il12a	A	T	3: 68,695,262		probably benign	Het
Ints13	A	G	6: 146,576,349	V34A	probably benign	Het
Klra9	A	G	6: 130,179,073	S240P	probably damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Ndrg1	A	G	15: 66,930,850		probably benign	Het
Olfr181	T	C	16: 58,926,497	T25A	probably benign	Het
Olfr739	T	C	14: 50,425,448	*310Q	probably null	Het
Pax7	A	G	4: 139,830,371	S30P	probably damaging	Het
Pdcd11	A	T	19: 47,093,808	T54S	probably benign	Het
Pex19	T	C	1: 172,130,739	V95A	probably damaging	Het
Pkhd1l1	A	G	15: 44,519,707	I1121V	probably benign	Het
Pklr	A	T	3: 89,141,784	I146F	probably benign	Het
Plcb1	T	C	2: 135,262,244	Y278H	possibly damaging	Het
Plcl1	T	A	1: 55,696,001	I167N	probably damaging	Het
Plekhh1	A	T	12: 79,078,687	I1241F	probably benign	Het
Plxnb2	G	T	15: 89,167,571	D148E	possibly damaging	Het
Pthlh	T	C	6: 147,257,247	I72V	probably damaging	Het
Ptpru	C	T	4: 131,785,756	R880Q	probably benign	Het
Rrp36	T	C	17: 46,668,006	K209E	probably damaging	Het
Scarb1	A	G	5: 125,304,222	V86A	probably damaging	Het
Sh2d7	A	C	9: 54,539,576	S37R	probably benign	Het
Slc13a2	A	T	11: 78,397,821	V543E	probably damaging	Het
Smarcal1	A	G	1: 72,591,137	T117A	probably benign	Het
Smok2a	A	G	17: 13,226,978	R481G	possibly damaging	Het
Smr2	G	A	5: 88,108,840	A126T	probably benign	Het
Sspo	G	T	6: 48,460,045	W1304C	possibly damaging	Het
Svep1	A	G	4: 58,116,524	S909P	possibly damaging	Het
Tchh	A	T	3: 93,445,573	K773N	unknown	Het
Tmem156	T	C	5: 65,075,607	N140S	possibly damaging	Het
Tmem213	T	C	6: 38,115,654	I107T	possibly damaging	Het
Tpd52l2	A	G	2: 181,511,579	Y161C	probably damaging	Het
Trappc8	C	T	18: 20,818,082	A1436T	probably benign	Het
Ubr3	A	G	2: 69,965,511	Y933C	possibly damaging	Het
Ufm1	A	T	3: 53,857,882		probably benign	Het
Wdr27	A	T	17: 14,883,669	L725Q	probably damaging	Het
Zdbf2	A	G	1: 63,305,876	D1138G	possibly damaging	Het
Zkscan16	G	A	4: 58,946,481	V119M	probably damaging	Het
Zmat5	A	G	11: 4,722,431	D16G	probably damaging	Het

Other mutations in Intu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Intu	APN	3	40664266	missense	probably benign	0.12
IGL01386:Intu	APN	3	40692587	missense	probably damaging	1.00
IGL02645:Intu	APN	3	40701272	missense	probably benign	0.01
IGL02869:Intu	APN	3	40687786	missense	probably damaging	1.00
IGL03263:Intu	APN	3	40672597	nonsense	probably null
H8562:Intu	UTSW	3	40692673	missense	probably damaging	1.00
PIT4495001:Intu	UTSW	3	40697603	missense	probably benign	0.07
R0010:Intu	UTSW	3	40654272	intron	probably benign
R0173:Intu	UTSW	3	40675346	critical splice donor site	probably null
R0426:Intu	UTSW	3	40675305	missense	probably damaging	0.97
R1566:Intu	UTSW	3	40692578	missense	probably damaging	0.99
R1619:Intu	UTSW	3	40697631	nonsense	probably null
R1658:Intu	UTSW	3	40692781	missense	probably benign	0.20
R1701:Intu	UTSW	3	40664264	missense	probably damaging	1.00
R1707:Intu	UTSW	3	40540924	missense	probably benign	0.03
R1707:Intu	UTSW	3	40683501	missense	possibly damaging	0.69
R1867:Intu	UTSW	3	40664335	missense	probably damaging	1.00
R1868:Intu	UTSW	3	40664335	missense	probably damaging	1.00
R2090:Intu	UTSW	3	40683536	missense	probably benign	0.00
R2310:Intu	UTSW	3	40653813	missense	probably benign
R2989:Intu	UTSW	3	40692710	missense	probably benign	0.11
R4168:Intu	UTSW	3	40672623	missense	probably benign	0.00
R4530:Intu	UTSW	3	40683364	missense	possibly damaging	0.95
R5093:Intu	UTSW	3	40692917	missense	probably benign	0.00
R5541:Intu	UTSW	3	40692587	splice site	probably null
R5587:Intu	UTSW	3	40675308	missense	probably damaging	0.99
R5745:Intu	UTSW	3	40692972	splice site	probably null
R5939:Intu	UTSW	3	40692584	missense	probably damaging	1.00
R5953:Intu	UTSW	3	40679550	missense	probably damaging	1.00
R6000:Intu	UTSW	3	40654148	nonsense	probably null
R6063:Intu	UTSW	3	40654094	missense	probably damaging	0.97
R6245:Intu	UTSW	3	40675326	missense	probably damaging	0.98
R6310:Intu	UTSW	3	40701291	nonsense	probably null
R6353:Intu	UTSW	3	40653708	missense	probably damaging	1.00
R6451:Intu	UTSW	3	40701293	missense	possibly damaging	0.94
R6660:Intu	UTSW	3	40531951	missense	probably benign	0.00
R6848:Intu	UTSW	3	40694255	missense	probably benign	0.00
R7440:Intu	UTSW	3	40697551	missense	probably benign	0.04
R7625:Intu	UTSW	3	40697599	missense	probably benign
R7633:Intu	UTSW	3	40654253	missense	probably damaging	1.00
R7798:Intu	UTSW	3	40691929	missense	probably damaging	1.00
R7877:Intu	UTSW	3	40699792	missense	probably benign	0.07
R7978:Intu	UTSW	3	40697639	missense	probably damaging	1.00
R8319:Intu	UTSW	3	40653772	missense	probably damaging	1.00
R8332:Intu	UTSW	3	40675289	missense	probably benign	0.35
R8860:Intu	UTSW	3	40672732	missense	probably benign	0.07
R8926:Intu	UTSW	3	40653709	missense	possibly damaging	0.69
R8946:Intu	UTSW	3	40683359	missense	possibly damaging	0.93
R9164:Intu	UTSW	3	40690703	missense	probably damaging	1.00
R9191:Intu	UTSW	3	40692511	missense	probably damaging	0.99
R9547:Intu	UTSW	3	40654106	missense	probably benign
Z1177:Intu	UTSW	3	40697516	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CTTACTAGTGGGGTAAGCACC -3'
(R):5'- AGAGCATCCCGGGTTCACTAAG -3'

Sequencing Primer
(F):5'- GTAAGCACCCTTTACAGCCCTG -3'
(R):5'- TCACTAAGATCCAGGTGTGGC -3'

Posted On

2016-12-15