Mutagenetix > Incidental Mutation

Incidental Mutation 'R5195:Hook2'

400108

Institutional Source

Beutler Lab

Gene Symbol

Hook2

Ensembl Gene

ENSMUSG00000052566

Gene Name

hook microtubule tethering protein 2

Synonyms

A630054I03Rik

MMRRC Submission

042771-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R5195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85717232-85729978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85721405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 252 (N252I)

Ref Sequence

ENSEMBL: ENSMUSP00000148078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064495] [ENSMUST00000209764] [ENSMUST00000210326]

AlphaFold

Q7TMK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064495
AA Change: N252I

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
AA Change: N252I

Domain	Start	End	E-Value	Type
Pfam:HOOK	8	703	2.3e-277	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209652

Predicted Effect

probably damaging
Transcript: ENSMUST00000209764
AA Change: N252I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210326
AA Change: N252I

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

Meta Mutation Damage Score

0.1966

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	T	C	13: 107,551,053 (GRCm39)		noncoding transcript	Het
Arhgef40	T	A	14: 52,227,269 (GRCm39)	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,601,305 (GRCm39)	L358P	possibly damaging	Het
Bicra	G	A	7: 15,713,878 (GRCm39)	P775S	possibly damaging	Het
Ccdc78	T	A	17: 26,008,962 (GRCm39)		probably null	Het
Ccnb1-ps	T	A	7: 41,755,522 (GRCm39)		noncoding transcript	Het
Cct6a	A	T	5: 129,871,718 (GRCm39)		noncoding transcript	Het
Cep120	T	A	18: 53,854,770 (GRCm39)	H455L	probably damaging	Het
Cobl	C	T	11: 12,203,565 (GRCm39)	V964I	probably benign	Het
Cpt1a	A	T	19: 3,433,800 (GRCm39)	I761F	possibly damaging	Het
Crk	T	A	11: 75,570,289 (GRCm39)	Y14N	probably damaging	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Fanca	A	G	8: 124,030,684 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,267,398 (GRCm39)	D507V	probably benign	Het
Gtf2i	A	T	5: 134,273,686 (GRCm39)	L740*	probably null	Het
Hmgn2	C	A	4: 133,694,597 (GRCm39)	A8S	probably benign	Het
Igkv19-93	T	A	6: 68,713,510 (GRCm39)	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,449,889 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,486,145 (GRCm39)	F469I	probably damaging	Het
Kbtbd3	G	C	9: 4,316,905 (GRCm39)	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,677 (GRCm39)	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,557,572 (GRCm39)	E96G	possibly damaging	Het
Kptn	A	G	7: 15,857,028 (GRCm39)	Y172C	probably damaging	Het
Krt86	T	A	15: 101,374,814 (GRCm39)	M328K	probably benign	Het
Lama1	A	G	17: 68,071,795 (GRCm39)	D894G	probably benign	Het
Lars2	T	C	9: 123,282,375 (GRCm39)	V653A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lhcgr	A	T	17: 89,050,374 (GRCm39)	V384D	probably damaging	Het
Malrd1	C	T	2: 16,155,621 (GRCm39)	T2010M	unknown	Het
Maml2	T	A	9: 13,532,410 (GRCm39)	N541K	probably damaging	Het
Med24	T	C	11: 98,601,107 (GRCm39)	K585R	possibly damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Mylk	T	A	16: 34,799,585 (GRCm39)	F1658L	probably damaging	Het
Obscn	C	T	11: 58,951,676 (GRCm39)	V4392I	possibly damaging	Het
Or10d5	A	G	9: 39,861,975 (GRCm39)	S31P	probably benign	Het
Or11g2	T	C	14: 50,856,243 (GRCm39)	L188P	probably damaging	Het
Pcnx2	A	T	8: 126,528,288 (GRCm39)	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,974 (GRCm39)	L521P	probably damaging	Het
Pde4a	A	G	9: 21,115,629 (GRCm39)	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,413,854 (GRCm39)	L103*	probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Polr2a	T	C	11: 69,634,905 (GRCm39)	Y618C	probably damaging	Het
Pramel16	T	A	4: 143,677,450 (GRCm39)	E43V	probably damaging	Het
Pramel5	T	A	4: 143,998,311 (GRCm39)	M311L	probably benign	Het
Rbbp8	T	C	18: 11,855,208 (GRCm39)	F478L	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryk	T	C	9: 102,744,812 (GRCm39)	V122A	probably benign	Het
Sik3	G	T	9: 46,120,142 (GRCm39)		probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc35e4	T	A	11: 3,862,872 (GRCm39)	I106F	possibly damaging	Het
Slc41a3	T	C	6: 90,610,653 (GRCm39)	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,044,134 (GRCm39)	K32N	probably damaging	Het
Spag17	T	C	3: 100,008,704 (GRCm39)	Y1945H	probably benign	Het
St7	A	G	6: 17,743,636 (GRCm39)		probably benign	Het
Stab1	C	A	14: 30,862,478 (GRCm39)		probably benign	Het
Taf13	G	A	3: 108,488,390 (GRCm39)	R91Q	probably damaging	Het
Tmem200a	T	C	10: 25,954,854 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,885,489 (GRCm39)	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,661,852 (GRCm39)	H439R	probably damaging	Het
Trpm1	T	C	7: 63,887,441 (GRCm39)	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,786,378 (GRCm39)	A831T	probably benign	Het
Wdr89	C	T	12: 75,680,062 (GRCm39)	R64Q	probably benign	Het
Zbed5	G	T	5: 129,931,019 (GRCm39)	V323F	probably benign	Het
Zeb2	T	C	2: 44,891,647 (GRCm39)	R287G	probably damaging	Het

Other mutations in Hook2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Hook2	APN	8	85,729,126 (GRCm39)	unclassified	probably benign
IGL01161:Hook2	APN	8	85,721,560 (GRCm39)	missense	probably benign	0.05
IGL01535:Hook2	APN	8	85,729,618 (GRCm39)	missense	probably benign	0.00
IGL01668:Hook2	APN	8	85,720,207 (GRCm39)	missense	possibly damaging	0.88
IGL01749:Hook2	APN	8	85,719,865 (GRCm39)	critical splice donor site	probably null
IGL01750:Hook2	APN	8	85,719,865 (GRCm39)	critical splice donor site	probably null
IGL01753:Hook2	APN	8	85,719,865 (GRCm39)	critical splice donor site	probably null
IGL01900:Hook2	APN	8	85,727,940 (GRCm39)	unclassified	probably benign
IGL02157:Hook2	APN	8	85,727,779 (GRCm39)	unclassified	probably benign
IGL02175:Hook2	APN	8	85,718,031 (GRCm39)	missense	probably damaging	1.00
IGL02350:Hook2	APN	8	85,721,614 (GRCm39)	nonsense	probably null
IGL02357:Hook2	APN	8	85,721,614 (GRCm39)	nonsense	probably null
IGL03377:Hook2	APN	8	85,727,964 (GRCm39)	nonsense	probably null
R0399:Hook2	UTSW	8	85,720,196 (GRCm39)	splice site	probably benign
R1133:Hook2	UTSW	8	85,722,433 (GRCm39)	missense	probably damaging	1.00
R2087:Hook2	UTSW	8	85,729,320 (GRCm39)	missense	probably damaging	0.98
R2277:Hook2	UTSW	8	85,729,560 (GRCm39)	nonsense	probably null
R2398:Hook2	UTSW	8	85,717,928 (GRCm39)	missense	probably damaging	0.98
R3406:Hook2	UTSW	8	85,720,613 (GRCm39)	splice site	probably benign
R4752:Hook2	UTSW	8	85,729,349 (GRCm39)	nonsense	probably null
R5014:Hook2	UTSW	8	85,718,006 (GRCm39)	missense	probably damaging	1.00
R5068:Hook2	UTSW	8	85,720,028 (GRCm39)	missense	possibly damaging	0.81
R5360:Hook2	UTSW	8	85,728,033 (GRCm39)	missense	probably damaging	1.00
R5597:Hook2	UTSW	8	85,720,657 (GRCm39)	missense	probably benign	0.00
R5614:Hook2	UTSW	8	85,729,137 (GRCm39)	missense	probably damaging	1.00
R5843:Hook2	UTSW	8	85,717,912 (GRCm39)	missense	probably damaging	0.99
R5931:Hook2	UTSW	8	85,722,375 (GRCm39)	nonsense	probably null
R5942:Hook2	UTSW	8	85,721,409 (GRCm39)	splice site	probably null
R6120:Hook2	UTSW	8	85,724,754 (GRCm39)	missense	probably damaging	1.00
R6167:Hook2	UTSW	8	85,721,642 (GRCm39)	missense	probably damaging	1.00
R6936:Hook2	UTSW	8	85,729,627 (GRCm39)	missense	probably benign	0.04
R6992:Hook2	UTSW	8	85,729,185 (GRCm39)	missense	probably damaging	1.00
R7058:Hook2	UTSW	8	85,724,040 (GRCm39)	missense	possibly damaging	0.89
R7101:Hook2	UTSW	8	85,723,680 (GRCm39)	missense	probably benign
R7177:Hook2	UTSW	8	85,718,046 (GRCm39)	missense	probably benign	0.07
R8072:Hook2	UTSW	8	85,721,120 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCTTGCGTAAATCCTATCTGTG -3'
(R):5'- GTTCCGTTGTTGCAGCTCAG -3'

Sequencing Primer
(F):5'- GCGTAAATCCTATCTGTGTAAGACC -3'
(R):5'- TTGTTGCAGCTCAGCGACC -3'

Posted On

2016-07-06