Mutagenetix > Incidental Mutation

Incidental Mutation 'R8306:Hormad2'

641086

Institutional Source

Beutler Lab

Gene Symbol

Hormad2

Ensembl Gene

ENSMUSG00000020419

Gene Name

HORMA domain containing 2

Synonyms

4930529M09Rik

MMRRC Submission

067792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8306 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4295814-4391105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4358714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 231 (K231R)

Ref Sequence

ENSEMBL: ENSMUSP00000105575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020689] [ENSMUST00000109948] [ENSMUST00000109949]

AlphaFold

Q5SQP1

Predicted Effect

probably benign
Transcript: ENSMUST00000020689

SMART Domains

Protein: ENSMUSP00000020689
Gene: ENSMUSG00000020419

Domain	Start	End	E-Value	Type
Pfam:HORMA	27	65	1.9e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109948
AA Change: K231R

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105574
Gene: ENSMUSG00000020419
AA Change: K231R

Domain	Start	End	E-Value	Type
Pfam:HORMA	28	226	8.3e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109949
AA Change: K231R

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105575
Gene: ENSMUSG00000020419
AA Change: K231R

Domain	Start	End	E-Value	Type
Pfam:HORMA	27	226	6.4e-60	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene leads to arrest of spermatogenesis, male infertility, and abnormalities in male and female meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,302,194 (GRCm39)	V158F	probably damaging	Het
Abtb3	T	A	10: 85,434,409 (GRCm39)	C22*	probably null	Het
Adam1b	T	C	5: 121,641,212 (GRCm39)		probably benign	Het
Ambn	G	A	5: 88,607,281 (GRCm39)	E50K	possibly damaging	Het
Ash1l	A	G	3: 88,873,259 (GRCm39)	D14G	probably benign	Het
Asphd1	C	T	7: 126,547,784 (GRCm39)	R173H	probably damaging	Het
Atr	A	T	9: 95,802,423 (GRCm39)	T1772S		Het
Best3	T	C	10: 116,838,515 (GRCm39)	L191P	probably damaging	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Borcs6	T	C	11: 68,950,646 (GRCm39)	L8P	probably benign	Het
Brca1	T	G	11: 101,416,463 (GRCm39)	Q557P	probably damaging	Het
Brca2	G	A	5: 150,460,128 (GRCm39)	E468K	possibly damaging	Het
Capza2	T	A	6: 17,637,131 (GRCm39)	L4Q	probably benign	Het
Cc2d2b	T	A	19: 40,804,228 (GRCm39)	Y918*	probably null	Het
Ccdc163	T	C	4: 116,567,472 (GRCm39)	L67P	probably damaging	Het
Ccdc172	C	A	19: 58,525,022 (GRCm39)	Q160K	probably damaging	Het
Ccp110	T	A	7: 118,321,903 (GRCm39)	D519E	probably benign	Het
Cd300ld2	T	C	11: 114,904,648 (GRCm39)	Q73R	probably benign	Het
Cfap46	T	A	7: 139,236,496 (GRCm39)	D608V		Het
Cfap69	T	G	5: 5,654,287 (GRCm39)	Y549S	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clu	A	C	14: 66,217,211 (GRCm39)	Q348P	probably damaging	Het
Cnot1	A	T	8: 96,473,649 (GRCm39)	N1153K	probably benign	Het
Col2a1	T	C	15: 97,888,849 (GRCm39)		probably null	Het
Col6a6	A	T	9: 105,661,272 (GRCm39)	I279N	probably damaging	Het
Dop1a	A	G	9: 86,402,259 (GRCm39)	D1153G	possibly damaging	Het
Dpyd	A	G	3: 119,205,822 (GRCm39)	K888E	probably benign	Het
Eif2ak4	T	C	2: 118,287,656 (GRCm39)	I1208T	possibly damaging	Het
Epha1	T	C	6: 42,335,722 (GRCm39)	I972V	probably damaging	Het
Fam13c	C	T	10: 70,388,983 (GRCm39)	T503I	probably benign	Het
Fbxo43	T	A	15: 36,162,013 (GRCm39)	Q398L	probably benign	Het
Fbxo44	A	G	4: 148,243,089 (GRCm39)	I57T	probably benign	Het
Flnc	T	C	6: 29,449,369 (GRCm39)	I1422T	probably benign	Het
Flrt2	T	C	12: 95,746,076 (GRCm39)	L138P	probably damaging	Het
Frem3	A	G	8: 81,338,840 (GRCm39)	K378E	possibly damaging	Het
Ganc	T	A	2: 120,252,560 (GRCm39)	D128E	probably benign	Het
Gm19965	T	C	1: 116,749,515 (GRCm39)	S399P		Het
H2-Q1	A	T	17: 35,539,997 (GRCm39)	K89*	probably null	Het
H2-Q2	A	T	17: 35,561,301 (GRCm39)		probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Homer2	T	A	7: 81,274,014 (GRCm39)	S125C	possibly damaging	Het
Kif17	A	C	4: 138,005,220 (GRCm39)	K262Q	probably damaging	Het
Kif20a	G	A	18: 34,761,444 (GRCm39)	S279N	probably benign	Het
Lrp12	T	C	15: 39,741,450 (GRCm39)	N441D	probably damaging	Het
Lta4h	G	T	10: 93,318,126 (GRCm39)	L515F	possibly damaging	Het
Mavs	T	C	2: 131,088,470 (GRCm39)	S425P	probably benign	Het
Mcat	A	C	15: 83,439,592 (GRCm39)	D99E	probably damaging	Het
Nav2	C	A	7: 49,195,765 (GRCm39)	T1047K	probably benign	Het
Neb	T	A	2: 52,099,657 (GRCm39)	Y4731F	probably damaging	Het
Nectin4	G	C	1: 171,211,325 (GRCm39)	R283P	probably null	Het
Notch3	G	A	17: 32,377,086 (GRCm39)	T273I	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or5i1	A	T	2: 87,613,830 (GRCm39)	*317C	probably null	Het
Or6b2b	T	G	1: 92,419,247 (GRCm39)	I77L	possibly damaging	Het
Or6z7	T	A	7: 6,483,868 (GRCm39)	I96F	possibly damaging	Het
Pcdha12	A	T	18: 37,155,638 (GRCm39)	T786S	probably benign	Het
Pde9a	A	G	17: 31,692,186 (GRCm39)	K520E	probably benign	Het
Piezo2	A	C	18: 63,208,801 (GRCm39)	L1404R	probably damaging	Het
Rrbp1	T	C	2: 143,792,416 (GRCm39)	S1321G	probably benign	Het
Rtkn	T	C	6: 83,128,897 (GRCm39)	V464A	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,147 (GRCm39)	F193S	probably damaging	Het
Samd4	G	A	14: 47,122,374 (GRCm39)	V33I	probably damaging	Het
Scn5a	A	G	9: 119,350,357 (GRCm39)	L839P	probably damaging	Het
Slc6a17	C	A	3: 107,380,985 (GRCm39)	V507L	probably benign	Het
Stradb	C	A	1: 59,030,356 (GRCm39)	N203K	unknown	Het
Tenm2	T	C	11: 35,960,196 (GRCm39)	T1044A	possibly damaging	Het
Tmem245	A	C	4: 56,886,037 (GRCm39)	W860G	probably damaging	Het
Tpst2	G	A	5: 112,455,803 (GRCm39)	R114H	probably damaging	Het
Trappc10	C	T	10: 78,036,460 (GRCm39)	D920N	possibly damaging	Het
Vmn1r59	T	A	7: 5,456,966 (GRCm39)	I265L	probably benign	Het
Zbtb20	A	C	16: 43,439,100 (GRCm39)	D667A	probably damaging	Het
Zbtb4	T	A	11: 69,668,309 (GRCm39)	I344N	probably damaging	Het
Zdbf2	T	A	1: 63,343,234 (GRCm39)	C538S	possibly damaging	Het
Zmym6	A	T	4: 127,016,355 (GRCm39)	H712L	probably damaging	Het

Other mutations in Hormad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02245:Hormad2	APN	11	4,358,580 (GRCm39)	splice site	probably benign
R0116:Hormad2	UTSW	11	4,362,206 (GRCm39)	splice site	probably benign
R0504:Hormad2	UTSW	11	4,358,833 (GRCm39)	missense	possibly damaging	0.78
R0925:Hormad2	UTSW	11	4,377,297 (GRCm39)	missense	probably damaging	1.00
R1344:Hormad2	UTSW	11	4,359,005 (GRCm39)	critical splice donor site	probably null
R1418:Hormad2	UTSW	11	4,359,005 (GRCm39)	critical splice donor site	probably null
R1512:Hormad2	UTSW	11	4,374,788 (GRCm39)	missense	probably damaging	1.00
R1562:Hormad2	UTSW	11	4,358,848 (GRCm39)	splice site	probably null
R2158:Hormad2	UTSW	11	4,374,808 (GRCm39)	nonsense	probably null
R3405:Hormad2	UTSW	11	4,374,302 (GRCm39)	missense	probably damaging	1.00
R3727:Hormad2	UTSW	11	4,358,598 (GRCm39)	missense	probably benign
R3903:Hormad2	UTSW	11	4,377,237 (GRCm39)	splice site	probably benign
R6277:Hormad2	UTSW	11	4,371,583 (GRCm39)	splice site	probably null
R7468:Hormad2	UTSW	11	4,362,245 (GRCm39)	nonsense	probably null
R7633:Hormad2	UTSW	11	4,296,662 (GRCm39)	missense	probably benign	0.00
R7912:Hormad2	UTSW	11	4,358,841 (GRCm39)	missense	probably damaging	1.00
R8129:Hormad2	UTSW	11	4,296,648 (GRCm39)	missense	probably benign	0.02
R9625:Hormad2	UTSW	11	4,377,372 (GRCm39)	missense	probably damaging	1.00
R9626:Hormad2	UTSW	11	4,377,372 (GRCm39)	missense	probably damaging	1.00
R9628:Hormad2	UTSW	11	4,377,372 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGAAATGTCACCTGTGTTTAAG -3'
(R):5'- TTCCCTGTTAAGTGCGCAGG -3'

Sequencing Primer
(F):5'- GTTTAAGTAAAACAATGAAGGGTCAC -3'
(R):5'- CTGTACATGAAGTAGTTATGTCACG -3'

Posted On

2020-07-28