Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Gucy1b2'

604326

Institutional Source

Beutler Lab

Gene Symbol

Gucy1b2

Ensembl Gene

ENSMUSG00000021933

Gene Name

guanylate cyclase 1, soluble, beta 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

RF030 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

62630125-62693738 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

CACACACACACACACACTTAC to CAC at 62646090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022501] [ENSMUST00000165651]

AlphaFold

Q8BXH3

Predicted Effect

probably benign
Transcript: ENSMUST00000022501

SMART Domains

Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933

Domain	Start	End	E-Value	Type
Pfam:HNOB	83	244	6e-60	PFAM
Blast:CYCc	263	362	3e-24	BLAST
PDB:4GJ4\|D	350	471	4e-8	PDB
CYCc	513	712	1.11e-108	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165651

SMART Domains

Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933

Domain	Start	End	E-Value	Type
Pfam:HNOB	82	250	1.1e-53	PFAM
Blast:CYCc	263	347	6e-25	BLAST
PDB:4GJ4\|D	335	456	5e-8	PDB
CYCc	498	697	1.11e-108	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal hyperventilation response to a 10% oxygen environment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,475,254 (GRCm39)		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,475,263 (GRCm39)		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,693,966 (GRCm39)		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,693,980 (GRCm39)		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 21,433,916 (GRCm39)		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,523,384 (GRCm39)		probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,129,692 (GRCm39)		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,810,151 (GRCm39)		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,811,795 (GRCm39)		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,466,607 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eed	C	A	7: 89,604,240 (GRCm39)	A411S	probably benign	Het
Fer1l4	GGTC	G	2: 155,887,449 (GRCm39)		probably benign	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)		probably benign	Het
Gab3	CTTTT	CT	X: 74,043,583 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,632 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,631 (GRCm39)		probably benign	Het
Gab3	TCT	TCTCCT	X: 74,043,614 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,611 (GRCm39)		probably benign	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,037 (GRCm39)		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,755,850 (GRCm39)		probably null	Het
Gucy2d	C	CTGGGGCCTG	7: 98,108,241 (GRCm39)		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647 (GRCm39)		probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Irag2	ATTG	ATTGAGCACGTTG	6: 145,119,514 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,285,802 (GRCm39)		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 92,925,448 (GRCm39)		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 92,925,651 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGTAG	X: 70,162,434 (GRCm39)		probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,136,792 (GRCm39)		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,136,798 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Pdik1l	C	CCACCAA	4: 134,006,827 (GRCm39)		probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,421,898 (GRCm39)		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,473 (GRCm39)		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,384,483 (GRCm39)		probably benign	Het
Six5	CGGA	C	7: 18,828,725 (GRCm39)		probably benign	Het
Spmap2l	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,164,248 (GRCm39)		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,968,795 (GRCm39)		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,966,640 (GRCm39)		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,966,646 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,038 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,037 (GRCm39)		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,593,019 (GRCm39)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,673,174 (GRCm39)		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,537,028 (GRCm39)		probably benign	Het
Wdr97	AGGAGGAGG	AG	15: 76,247,365 (GRCm39)		probably null	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)		probably benign	Het

Other mutations in Gucy1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Gucy1b2	APN	14	62,643,694 (GRCm39)	missense	probably damaging	1.00
IGL00465:Gucy1b2	APN	14	62,640,649 (GRCm39)	missense	probably benign
IGL00756:Gucy1b2	APN	14	62,640,658 (GRCm39)	missense	probably benign
IGL01800:Gucy1b2	APN	14	62,649,104 (GRCm39)	missense	probably benign	0.03
IGL01875:Gucy1b2	APN	14	62,657,595 (GRCm39)	missense	probably damaging	1.00
IGL03033:Gucy1b2	APN	14	62,653,393 (GRCm39)	missense	probably benign	0.00
IGL03110:Gucy1b2	APN	14	62,671,283 (GRCm39)	splice site	probably benign
IGL02796:Gucy1b2	UTSW	14	62,645,143 (GRCm39)	missense	probably benign	0.42
R0183:Gucy1b2	UTSW	14	62,656,589 (GRCm39)	missense	probably damaging	1.00
R0605:Gucy1b2	UTSW	14	62,640,608 (GRCm39)	splice site	probably benign
R0815:Gucy1b2	UTSW	14	62,656,511 (GRCm39)	missense	probably benign	0.00
R0863:Gucy1b2	UTSW	14	62,656,511 (GRCm39)	missense	probably benign	0.00
R0972:Gucy1b2	UTSW	14	62,651,818 (GRCm39)	missense	possibly damaging	0.61
R0972:Gucy1b2	UTSW	14	62,646,127 (GRCm39)	missense	possibly damaging	0.88
R1438:Gucy1b2	UTSW	14	62,651,770 (GRCm39)	missense	probably damaging	0.98
R2011:Gucy1b2	UTSW	14	62,646,207 (GRCm39)	missense	probably damaging	0.99
R2409:Gucy1b2	UTSW	14	62,643,628 (GRCm39)	frame shift	probably null
R3692:Gucy1b2	UTSW	14	62,642,076 (GRCm39)	missense	probably damaging	1.00
R4484:Gucy1b2	UTSW	14	62,649,038 (GRCm39)	missense	possibly damaging	0.88
R4715:Gucy1b2	UTSW	14	62,660,466 (GRCm39)	missense	possibly damaging	0.95
R4730:Gucy1b2	UTSW	14	62,645,208 (GRCm39)	missense	probably damaging	1.00
R4812:Gucy1b2	UTSW	14	62,653,346 (GRCm39)	splice site	probably null
R4839:Gucy1b2	UTSW	14	62,685,695 (GRCm39)	missense	probably damaging	1.00
R5261:Gucy1b2	UTSW	14	62,642,028 (GRCm39)	missense	probably damaging	1.00
R5326:Gucy1b2	UTSW	14	62,690,779 (GRCm39)	critical splice donor site	probably null
R5656:Gucy1b2	UTSW	14	62,660,430 (GRCm39)	missense	probably damaging	1.00
R5779:Gucy1b2	UTSW	14	62,651,750 (GRCm39)	missense	possibly damaging	0.82
R6000:Gucy1b2	UTSW	14	62,656,499 (GRCm39)	missense	probably benign	0.00
R6274:Gucy1b2	UTSW	14	62,653,388 (GRCm39)	missense	probably damaging	1.00
R7457:Gucy1b2	UTSW	14	62,630,401 (GRCm39)	missense	probably benign	0.08
R7487:Gucy1b2	UTSW	14	62,685,672 (GRCm39)	missense	probably damaging	0.97
R7607:Gucy1b2	UTSW	14	62,656,626 (GRCm39)	missense	probably damaging	1.00
R8030:Gucy1b2	UTSW	14	62,630,319 (GRCm39)	missense	probably benign
R8285:Gucy1b2	UTSW	14	62,657,556 (GRCm39)	missense	probably damaging	0.98
R8287:Gucy1b2	UTSW	14	62,649,265 (GRCm39)	missense	probably damaging	1.00
R8970:Gucy1b2	UTSW	14	62,656,664 (GRCm39)	missense	possibly damaging	0.95
RF035:Gucy1b2	UTSW	14	62,646,090 (GRCm39)	critical splice donor site	probably benign
Z1177:Gucy1b2	UTSW	14	62,690,902 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGATTCTAGAAGCAGGCCACATC -3'
(R):5'- GTATCCTTGGCTACCACTGAC -3'

Sequencing Primer
(F):5'- TTCTAGAAGCAGGCCACATCATACC -3'
(R):5'- CACTGACATGGTTCCTGTTGCAG -3'

Posted On

2019-12-04