Mutagenetix > Incidental Mutation

Incidental Mutation 'R6168:Hoxa2'

490245

Institutional Source

Beutler Lab

Gene Symbol

Hoxa2

Ensembl Gene

ENSMUSG00000014704

Gene Name

homeobox A2

Synonyms

Hox-1.11

MMRRC Submission

044430-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6168 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52139397-52141811 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52140461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 175 (L175P)

Ref Sequence

ENSEMBL: ENSMUSP00000014848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014848] [ENSMUST00000128102]

AlphaFold

P31245

Predicted Effect

probably damaging
Transcript: ENSMUST00000014848
AA Change: L175P

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

SMART Domains

Protein: ENSMUSP00000014848
Gene: ENSMUSG00000014704
AA Change: L175P

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
HOX	139	201	2.37e-28	SMART
low complexity region	214	227	N/A	INTRINSIC
low complexity region	332	367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184778

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is located in a cluster of developmentally and temporally regulated genes on chromosome 6 encoding proteins involved in pattern formation. These proteins contain a characteristic DNA-binding motif called a homeodomain and function in transcriptional regulation. There are four distinct clusters of related genes on chromosomes 2, 6, 11, and 15. The protein encoded by this gene is expressed in rhombomere 2 and is important for hindbrain formation in the early embryo. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutant homozygotes lack skeletal elements normally derived from the second branchial arch and show duplication of elements derived from the first branchial arch, such as ossification centers of the middle ear. Mutants die perinatally with cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,571,827 (GRCm39)	L568F	possibly damaging	Het
Adam3	A	T	8: 25,171,630 (GRCm39)		probably null	Het
Adamts13	G	T	2: 26,894,898 (GRCm39)	A1069S	probably benign	Het
Adarb1	A	G	10: 77,158,153 (GRCm39)	L98P	probably damaging	Het
Ahnak2	T	C	12: 112,747,750 (GRCm39)	E1035G	probably benign	Het
Alox12b	T	A	11: 69,060,460 (GRCm39)	I672N	probably damaging	Het
Ark2n	A	G	18: 77,761,653 (GRCm39)	S220P	probably damaging	Het
Ash1l	C	T	3: 88,960,080 (GRCm39)	R2271*	probably null	Het
Atf7ip	A	G	6: 136,536,817 (GRCm39)	T17A	probably damaging	Het
Col6a5	A	G	9: 105,752,986 (GRCm39)		probably null	Het
Crcp	A	G	5: 130,066,737 (GRCm39)	N41S	probably damaging	Het
Defb15	A	C	8: 22,420,069 (GRCm39)	N19K	possibly damaging	Het
Dnah7a	T	A	1: 53,450,727 (GRCm39)	D3901V	probably damaging	Het
Dnah7b	A	C	1: 46,329,863 (GRCm39)	T3236P	probably damaging	Het
Dnmbp	A	G	19: 43,838,679 (GRCm39)	S608P	probably damaging	Het
Efcab12	T	C	6: 115,791,577 (GRCm39)	K532E	probably damaging	Het
Fbrsl1	C	T	5: 110,543,922 (GRCm39)	V54M	probably damaging	Het
Gm14496	T	A	2: 181,642,750 (GRCm39)	V807E	probably damaging	Het
Igkv4-58	A	C	6: 69,477,281 (GRCm39)	D105E	probably damaging	Het
Igkv8-27	A	T	6: 70,148,880 (GRCm39)	S91R	probably benign	Het
Itgax	T	C	7: 127,732,269 (GRCm39)	V175A	probably damaging	Het
Kcnc2	A	G	10: 112,291,661 (GRCm39)	D283G	probably benign	Het
Lepr	G	A	4: 101,592,789 (GRCm39)	G135R	probably damaging	Het
Mcf2l	A	G	8: 13,051,823 (GRCm39)	S378G	probably benign	Het
Mta1	T	A	12: 113,086,739 (GRCm39)	D145E	probably damaging	Het
Nkd1	T	A	8: 89,311,859 (GRCm39)	N44K	probably damaging	Het
Notch2	A	G	3: 98,052,533 (GRCm39)	K2010E	probably damaging	Het
Nsd3	G	A	8: 26,181,188 (GRCm39)	G930S	probably null	Het
Or2w1	T	G	13: 21,317,399 (GRCm39)	I151M	possibly damaging	Het
Or6c203	A	G	10: 129,010,035 (GRCm39)	F285S	probably damaging	Het
Or8g35	A	G	9: 39,381,953 (GRCm39)	L23P	probably damaging	Het
Or8k3	T	G	2: 86,058,938 (GRCm39)	I126L	probably damaging	Het
Or8u8	T	C	2: 86,012,309 (GRCm39)	I49V	probably damaging	Het
Pde4c	G	A	8: 71,202,688 (GRCm39)	E625K	probably benign	Het
Pdgfb	T	C	15: 79,884,587 (GRCm39)	T151A	probably benign	Het
Pik3r5	T	C	11: 68,383,501 (GRCm39)	V440A	probably benign	Het
Piwil2	T	C	14: 70,632,800 (GRCm39)	T591A	probably benign	Het
Ppm1l	A	G	3: 69,456,740 (GRCm39)	D219G	probably damaging	Het
Psmc6	T	C	14: 45,581,140 (GRCm39)	I312T	probably damaging	Het
Rasl10a	T	C	11: 5,008,442 (GRCm39)	V46A	possibly damaging	Het
Rhov	T	C	2: 119,101,453 (GRCm39)	Y51C	probably damaging	Het
S100a16	C	T	3: 90,449,879 (GRCm39)	Q121*	probably null	Het
Slc5a12	T	C	2: 110,447,089 (GRCm39)	V199A	probably damaging	Het
Slc6a7	A	T	18: 61,134,734 (GRCm39)	M447K	probably benign	Het
Tarbp1	A	G	8: 127,175,144 (GRCm39)	V764A	possibly damaging	Het
Vmn1r197	T	C	13: 22,512,678 (GRCm39)	Y200H	possibly damaging	Het
Vmn2r102	G	A	17: 19,914,402 (GRCm39)	A656T	possibly damaging	Het
Vmn2r49	G	T	7: 9,718,713 (GRCm39)	D450E	probably benign	Het
Wdr7	T	A	18: 63,911,048 (GRCm39)	N813K	probably damaging	Het
Yeats2	T	C	16: 19,998,308 (GRCm39)	S288P	probably benign	Het
Zfta	T	C	19: 7,400,305 (GRCm39)	V257A	probably benign	Het
Zswim6	G	A	13: 107,924,299 (GRCm39)		noncoding transcript	Het

Other mutations in Hoxa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Hoxa2	APN	6	52,140,497 (GRCm39)	missense	probably damaging	1.00
R0111:Hoxa2	UTSW	6	52,141,467 (GRCm39)	splice site	probably null
R0612:Hoxa2	UTSW	6	52,140,540 (GRCm39)	missense	probably damaging	1.00
R1479:Hoxa2	UTSW	6	52,140,320 (GRCm39)	missense	probably damaging	0.97
R1992:Hoxa2	UTSW	6	52,141,576 (GRCm39)	missense	probably damaging	0.97
R2315:Hoxa2	UTSW	6	52,139,871 (GRCm39)	unclassified	probably benign
R5703:Hoxa2	UTSW	6	52,140,243 (GRCm39)	missense	probably damaging	0.98
R5994:Hoxa2	UTSW	6	52,141,372 (GRCm39)	missense	possibly damaging	0.73
R7483:Hoxa2	UTSW	6	52,141,279 (GRCm39)	missense	probably benign	0.01
R7573:Hoxa2	UTSW	6	52,140,283 (GRCm39)	missense	probably benign	0.25
R7708:Hoxa2	UTSW	6	52,141,542 (GRCm39)	missense	probably damaging	0.99
R8215:Hoxa2	UTSW	6	52,140,041 (GRCm39)	missense	probably damaging	1.00
R8548:Hoxa2	UTSW	6	52,140,098 (GRCm39)	missense	probably damaging	1.00
R8683:Hoxa2	UTSW	6	52,141,540 (GRCm39)	missense	possibly damaging	0.46
R8936:Hoxa2	UTSW	6	52,140,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGAGGGCTTGCTCAAAG -3'
(R):5'- TCCAATGGAATAACCCTGCTCG -3'

Sequencing Primer
(F):5'- GCTTGCTCAAAGAGTGACTTC -3'
(R):5'- GAATAACCCTGCTCGGACCCTTC -3'

Posted On

2017-10-10