Mutagenetix > Incidental Mutation

Incidental Mutation 'R4168:Intu'

320647

Institutional Source

Beutler Lab

Gene Symbol

Intu

Ensembl Gene

ENSMUSG00000060798

Gene Name

inturned planar cell polarity protein

Synonyms

Pdzd6, Pdzk6, 9430087H23Rik, 9230116I04Rik

MMRRC Submission

041009-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40531286-40704774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40672623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 278 (P278L)

Ref Sequence

ENSEMBL: ENSMUSP00000088725 (fasta)

Gene Model

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

AlphaFold

Q059U7

Predicted Effect

probably benign
Transcript: ENSMUST00000091186
AA Change: P278L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: P278L

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: P1L

Meta Mutation Damage Score

0.0716

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (39/40)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	C	7: 28,137,109	L151P	probably benign	Het
C3	A	T	17: 57,218,608	F883I	probably benign	Het
Cbr4	T	A	8: 61,491,521		probably benign	Het
Cd200r3	T	A	16: 44,954,189	D188E	probably benign	Het
Chpf2	T	C	5: 24,591,790	V578A	possibly damaging	Het
Clasrp	A	G	7: 19,581,154		probably benign	Het
Cmip	A	T	8: 117,456,917	N743I	probably damaging	Het
Ctif	A	C	18: 75,637,215	L33R	probably damaging	Het
Dmap1	T	A	4: 117,681,310	H54L	possibly damaging	Het
Elk3	A	G	10: 93,265,335		probably null	Het
Flt4	G	A	11: 49,630,573	R440H	probably benign	Het
Gabrb2	A	T	11: 42,421,328		probably benign	Het
Gm12789	A	G	4: 101,989,962	Y148C	possibly damaging	Het
Gm5724	T	C	6: 141,738,947	I261V	probably benign	Het
Haspin	A	G	11: 73,136,022	L747P	probably damaging	Het
Kif27	A	G	13: 58,345,748	I127T	probably benign	Het
Mogat1	T	C	1: 78,512,035	V25A	possibly damaging	Het
Nop14	A	G	5: 34,656,744	S157P	probably damaging	Het
Olfr1040	A	G	2: 86,146,179	I185T	probably benign	Het
Olfr1167	T	C	2: 88,149,845	H58R	probably damaging	Het
Olfr195	A	T	16: 59,149,000	Y50F	probably benign	Het
Oxct2b	T	C	4: 123,117,685	L466P	probably damaging	Het
Padi6	A	G	4: 140,741,934	C32R	probably damaging	Het
Pla2r1	A	T	2: 60,497,614	Y501*	probably null	Het
Rb1cc1	G	A	1: 6,230,024	V8I	probably damaging	Het
Rexo5	A	G	7: 119,827,398		probably benign	Het
Tmem119	T	C	5: 113,794,987	E251G	probably benign	Het
Vmn2r112	T	A	17: 22,603,088	M249K	probably benign	Het
Zc2hc1a	A	G	3: 7,518,391	T41A	probably benign	Het
Zfp128	A	G	7: 12,890,362	D219G	probably benign	Het
Znrf2	T	C	6: 54,863,960	V173A	possibly 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
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
R5809:Intu	UTSW	3	40679590	missense	probably damaging	0.99
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'- TCAGGGCATGTCTTCCTTTG -3'
(R):5'- CGGCATATGTGAGCAGACAC -3'

Sequencing Primer
(F):5'- ATTTCTGAGTTCGAGGCCAGCC -3'
(R):5'- TGAGCAGACACTCACCTCCTC -3'

Posted On

2015-06-12