Mutagenetix > Incidental Mutation

Incidental Mutation 'R1619:Intu'

174497

Institutional Source

Beutler Lab

Gene Symbol

Intu

Ensembl Gene

ENSMUSG00000060798

Gene Name

inturned planar cell polarity protein

Synonyms

Pdzk6, 9230116I04Rik, Pdzd6, 9430087H23Rik

MMRRC Submission

039656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1619 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40585559-40659206 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 40652061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 839 (C839*)

Ref Sequence

ENSEMBL: ENSMUSP00000088725 (fasta)

Gene Model

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

AlphaFold

Q059U7

Predicted Effect

probably null
Transcript: ENSMUST00000091186
AA Change: C839*

SMART Domains

Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: C839*

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,844,889 (GRCm39)	H1537L	probably damaging	Het
Actg2	T	A	6: 83,500,169 (GRCm39)	N116I	probably damaging	Het
Actn1	G	A	12: 80,219,796 (GRCm39)	H692Y	probably damaging	Het
Adamts6	C	T	13: 104,449,285 (GRCm39)	P36S	probably benign	Het
Agr3	G	A	12: 35,997,858 (GRCm39)		probably null	Het
Ank3	T	C	10: 69,715,805 (GRCm39)	V500A	probably damaging	Het
BC051019	T	A	7: 109,317,269 (GRCm39)	D141V	probably damaging	Het
Bco1	T	C	8: 117,835,454 (GRCm39)	F135S	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccdc42	A	G	11: 68,485,115 (GRCm39)	K210E	probably damaging	Het
Cckar	A	T	5: 53,857,409 (GRCm39)	W263R	probably damaging	Het
Cela2a	A	G	4: 141,553,252 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,748,159 (GRCm39)	N90K	probably damaging	Het
Ces2g	A	T	8: 105,693,984 (GRCm39)	Q440L	probably damaging	Het
Chchd6	G	T	6: 89,396,736 (GRCm39)	T225K	possibly damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Chrna5	A	G	9: 54,911,649 (GRCm39)	T46A	probably benign	Het
Col16a1	G	A	4: 129,992,733 (GRCm39)	G1531S	probably damaging	Het
Col19a1	A	T	1: 24,573,172 (GRCm39)	V200E	unknown	Het
Csf2rb	A	G	15: 78,219,411 (GRCm39)	D2G	probably damaging	Het
Csmd3	G	A	15: 47,813,346 (GRCm39)	S1062L	probably damaging	Het
Cul5	G	T	9: 53,569,893 (GRCm39)	Q113K	probably benign	Het
Dmwd	TAGCCTGGGAA	TAGCCTGGGAAGCCTGGGAA	7: 18,814,959 (GRCm39)		probably benign	Het
Dse	T	C	10: 34,029,230 (GRCm39)	D620G	probably damaging	Het
Dsg1c	A	G	18: 20,397,899 (GRCm39)	N33S	probably benign	Het
Epc2	G	A	2: 49,439,990 (GRCm39)	V803I	probably damaging	Het
Erap1	T	A	13: 74,819,500 (GRCm39)	H171Q	probably damaging	Het
Esrrb	T	C	12: 86,561,274 (GRCm39)	V336A	possibly damaging	Het
Fech	A	T	18: 64,595,189 (GRCm39)	W300R	probably damaging	Het
Fgd4	T	C	16: 16,241,920 (GRCm39)	I635V	possibly damaging	Het
Galc	A	T	12: 98,200,563 (GRCm39)	N282K	probably benign	Het
Gpat2	A	G	2: 127,270,637 (GRCm39)	Y95C	probably benign	Het
Grm2	T	A	9: 106,524,670 (GRCm39)	I682F	probably damaging	Het
Hdac10	G	T	15: 89,010,878 (GRCm39)	A241D	probably damaging	Het
Helz	T	A	11: 107,527,105 (GRCm39)	C182*	probably null	Het
Ift140	A	G	17: 25,307,839 (GRCm39)	Y978C	probably damaging	Het
Jmjd1c	T	C	10: 67,055,654 (GRCm39)	V358A	probably benign	Het
Kif26b	A	G	1: 178,744,043 (GRCm39)	S1380G	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Lrrc2	T	A	9: 110,790,041 (GRCm39)	S99R	probably benign	Het
Mrpl48	G	A	7: 100,195,482 (GRCm39)		probably benign	Het
Mup9	A	G	4: 60,377,878 (GRCm39)		probably benign	Het
Nap1l1	G	A	10: 111,329,240 (GRCm39)	V285I	possibly damaging	Het
Nepro	A	G	16: 44,547,391 (GRCm39)	D36G	probably benign	Het
Nkain4	A	G	2: 180,577,794 (GRCm39)	F187L	probably damaging	Het
Nobox	A	T	6: 43,284,401 (GRCm39)	C82S	possibly damaging	Het
Ntn4	C	A	10: 93,480,596 (GRCm39)	Q70K	probably damaging	Het
Or13j1	A	G	4: 43,706,292 (GRCm39)	I92T	probably damaging	Het
Or1e26	A	T	11: 73,480,118 (GRCm39)	W149R	probably damaging	Het
Or4k37	A	G	2: 111,159,306 (GRCm39)	I181V	probably benign	Het
Or51a43	T	C	7: 103,717,738 (GRCm39)	R167G	probably damaging	Het
Or5b122	T	A	19: 13,562,978 (GRCm39)	F103L	probably benign	Het
Or9r3	A	G	10: 129,948,548 (GRCm39)	I37T	possibly damaging	Het
Pappa	A	G	4: 65,094,466 (GRCm39)	E497G	probably damaging	Het
Pard3	C	A	8: 128,106,983 (GRCm39)	T569K	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcdh10	A	G	3: 45,334,747 (GRCm39)	N354D	possibly damaging	Het
Pdgfc	T	C	3: 81,082,194 (GRCm39)	V129A	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Phf20l1	A	T	15: 66,487,108 (GRCm39)	H407L	possibly damaging	Het
Phip	A	T	9: 82,753,502 (GRCm39)	D1747E	probably benign	Het
Pkd1l1	A	G	11: 8,900,413 (GRCm39)	S43P	probably damaging	Het
Plekhg2	T	C	7: 28,067,846 (GRCm39)	E202G	probably damaging	Het
Rapsn	A	G	2: 90,873,504 (GRCm39)	D270G	possibly damaging	Het
Rims2	A	C	15: 39,370,382 (GRCm39)	S939R	probably damaging	Het
Ripor3	T	C	2: 167,822,765 (GRCm39)	D932G	probably damaging	Het
Rtp2	A	T	16: 23,749,421 (GRCm39)	W30R	probably damaging	Het
Scgb2b27	A	T	7: 33,711,557 (GRCm39)	D97E	probably benign	Het
Slc25a46	T	C	18: 31,716,542 (GRCm39)	N320S	probably benign	Het
Slc9b1	A	G	3: 135,060,765 (GRCm39)		probably null	Het
Socs4	T	A	14: 47,527,740 (GRCm39)	M225K	possibly damaging	Het
Spata31d1a	A	T	13: 59,850,247 (GRCm39)	L627*	probably null	Het
Srcin1	A	G	11: 97,416,307 (GRCm39)	L975P	probably damaging	Het
Stard3	T	A	11: 98,267,435 (GRCm39)		probably null	Het
Susd2	G	T	10: 75,473,878 (GRCm39)	S572R	possibly damaging	Het
Tll1	C	A	8: 64,509,307 (GRCm39)	A568S	probably benign	Het
Tmem132a	C	G	19: 10,839,062 (GRCm39)	G460A	probably damaging	Het
Trim62	A	G	4: 128,803,281 (GRCm39)	K444E	probably damaging	Het
Trpm3	A	G	19: 22,689,271 (GRCm39)	T67A	probably damaging	Het
Ttc6	T	C	12: 57,784,454 (GRCm39)	M1841T	possibly damaging	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Vmn2r38	C	A	7: 9,078,532 (GRCm39)	V617L	probably damaging	Het
Xkr6	G	A	14: 64,056,766 (GRCm39)	V226M	probably benign	Het
Zfp940	G	A	7: 29,544,962 (GRCm39)	A315V	possibly damaging	Het
Zfr	C	A	15: 12,150,473 (GRCm39)	T480K	possibly damaging	Het

Other mutations in Intu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Intu	APN	3	40,618,696 (GRCm39)	missense	probably benign	0.12
IGL01386:Intu	APN	3	40,647,017 (GRCm39)	missense	probably damaging	1.00
IGL02645:Intu	APN	3	40,655,702 (GRCm39)	missense	probably benign	0.01
IGL02869:Intu	APN	3	40,642,216 (GRCm39)	missense	probably damaging	1.00
IGL03263:Intu	APN	3	40,627,027 (GRCm39)	nonsense	probably null
H8562:Intu	UTSW	3	40,647,103 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Intu	UTSW	3	40,652,033 (GRCm39)	missense	probably benign	0.07
R0010:Intu	UTSW	3	40,608,702 (GRCm39)	intron	probably benign
R0173:Intu	UTSW	3	40,629,776 (GRCm39)	critical splice donor site	probably null
R0426:Intu	UTSW	3	40,629,735 (GRCm39)	missense	probably damaging	0.97
R1566:Intu	UTSW	3	40,647,008 (GRCm39)	missense	probably damaging	0.99
R1658:Intu	UTSW	3	40,647,211 (GRCm39)	missense	probably benign	0.20
R1701:Intu	UTSW	3	40,618,694 (GRCm39)	missense	probably damaging	1.00
R1707:Intu	UTSW	3	40,637,931 (GRCm39)	missense	possibly damaging	0.69
R1707:Intu	UTSW	3	40,595,073 (GRCm39)	missense	probably benign	0.03
R1867:Intu	UTSW	3	40,618,765 (GRCm39)	missense	probably damaging	1.00
R1868:Intu	UTSW	3	40,618,765 (GRCm39)	missense	probably damaging	1.00
R2090:Intu	UTSW	3	40,637,966 (GRCm39)	missense	probably benign	0.00
R2310:Intu	UTSW	3	40,608,243 (GRCm39)	missense	probably benign
R2989:Intu	UTSW	3	40,647,140 (GRCm39)	missense	probably benign	0.11
R4168:Intu	UTSW	3	40,627,053 (GRCm39)	missense	probably benign	0.00
R4530:Intu	UTSW	3	40,637,794 (GRCm39)	missense	possibly damaging	0.95
R5093:Intu	UTSW	3	40,647,347 (GRCm39)	missense	probably benign	0.00
R5541:Intu	UTSW	3	40,647,017 (GRCm39)	splice site	probably null
R5587:Intu	UTSW	3	40,629,738 (GRCm39)	missense	probably damaging	0.99
R5745:Intu	UTSW	3	40,647,402 (GRCm39)	splice site	probably null
R5809:Intu	UTSW	3	40,634,020 (GRCm39)	missense	probably damaging	0.99
R5939:Intu	UTSW	3	40,647,014 (GRCm39)	missense	probably damaging	1.00
R5953:Intu	UTSW	3	40,633,980 (GRCm39)	missense	probably damaging	1.00
R6000:Intu	UTSW	3	40,608,578 (GRCm39)	nonsense	probably null
R6063:Intu	UTSW	3	40,608,524 (GRCm39)	missense	probably damaging	0.97
R6245:Intu	UTSW	3	40,629,756 (GRCm39)	missense	probably damaging	0.98
R6310:Intu	UTSW	3	40,655,721 (GRCm39)	nonsense	probably null
R6353:Intu	UTSW	3	40,608,138 (GRCm39)	missense	probably damaging	1.00
R6451:Intu	UTSW	3	40,655,723 (GRCm39)	missense	possibly damaging	0.94
R6660:Intu	UTSW	3	40,586,100 (GRCm39)	missense	probably benign	0.00
R6848:Intu	UTSW	3	40,648,685 (GRCm39)	missense	probably benign	0.00
R7440:Intu	UTSW	3	40,651,981 (GRCm39)	missense	probably benign	0.04
R7625:Intu	UTSW	3	40,652,029 (GRCm39)	missense	probably benign
R7633:Intu	UTSW	3	40,608,683 (GRCm39)	missense	probably damaging	1.00
R7798:Intu	UTSW	3	40,646,359 (GRCm39)	missense	probably damaging	1.00
R7877:Intu	UTSW	3	40,654,222 (GRCm39)	missense	probably benign	0.07
R7978:Intu	UTSW	3	40,652,069 (GRCm39)	missense	probably damaging	1.00
R8319:Intu	UTSW	3	40,608,202 (GRCm39)	missense	probably damaging	1.00
R8332:Intu	UTSW	3	40,629,719 (GRCm39)	missense	probably benign	0.35
R8860:Intu	UTSW	3	40,627,162 (GRCm39)	missense	probably benign	0.07
R8926:Intu	UTSW	3	40,608,139 (GRCm39)	missense	possibly damaging	0.69
R8946:Intu	UTSW	3	40,637,789 (GRCm39)	missense	possibly damaging	0.93
R9164:Intu	UTSW	3	40,645,133 (GRCm39)	missense	probably damaging	1.00
R9191:Intu	UTSW	3	40,646,941 (GRCm39)	missense	probably damaging	0.99
R9547:Intu	UTSW	3	40,608,536 (GRCm39)	missense	probably benign
Z1177:Intu	UTSW	3	40,651,946 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GATTGACCTCCGGTCCTGAGAATACAC -3'
(R):5'- TTCAGCCCAGATTGAAACAGTATCCAC -3'

Sequencing Primer
(F):5'- GAGAATACACTCTTCCACTATGTTGC -3'
(R):5'- AGTATCCACCAACTTACACATGG -3'

Posted On

2014-04-24