Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Hormad2'

589768

Institutional Source

Beutler Lab

Gene Symbol

Hormad2

Ensembl Gene

ENSMUSG00000020419

Gene Name

HORMA domain containing 2

Synonyms

4930529M09Rik

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

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

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4295814-4391105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4296662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 274 (Q274R)

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: Q274R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105574
Gene: ENSMUSG00000020419
AA Change: Q274R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109949
AA Change: Q274R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105575
Gene: ENSMUSG00000020419
AA Change: Q274R

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: 99.0%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dcxr	A	C	11: 120,617,279 (GRCm39)	L88R	probably benign	Het
Dedd	C	T	1: 171,166,478 (GRCm39)	P138L	probably benign	Het
Degs1	A	G	1: 182,107,263 (GRCm39)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Nup155	C	G	15: 8,138,937 (GRCm39)	S3W	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trim59	T	A	3: 68,945,259 (GRCm39)	H27L	probably damaging	Het
Trpv2	G	A	11: 62,481,832 (GRCm39)		probably null	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het
Zfp954	A	T	7: 7,118,823 (GRCm39)	F240L	possibly 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
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
R8306:Hormad2	UTSW	11	4,358,714 (GRCm39)	missense	probably benign	0.32
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'- CCTTTCACAGACTGAGGAGAG -3'
(R):5'- GCTCCTGAAACTTGGAATGC -3'

Sequencing Primer
(F):5'- GAAGAAAGAAGGCTTGGTCATTATCC -3'
(R):5'- GAATGCCAGATTCTGATACTGGC -3'

Posted On

2019-10-24