Incidental Mutation 'R2907:Gucy2c'
ID 261690
Institutional Source Beutler Lab
Gene Symbol Gucy2c
Ensembl Gene ENSMUSG00000042638
Gene Name guanylate cyclase 2c
Synonyms GC-C
MMRRC Submission 040494-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2907 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 136674282-136758740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136685385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 852 (V852E)
Ref Sequence ENSEMBL: ENSMUSP00000077236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032338] [ENSMUST00000078095]
AlphaFold Q3UWA6
Predicted Effect probably damaging
Transcript: ENSMUST00000032338
AA Change: V876E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032338
Gene: ENSMUSG00000042638
AA Change: V876E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ANF_receptor 113 384 3.7e-8 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Pfam:Pkinase_Tyr 498 744 3.4e-33 PFAM
Pfam:Pkinase 499 744 1e-26 PFAM
CYCc 787 982 2.68e-107 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078095
AA Change: V852E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077236
Gene: ENSMUSG00000042638
AA Change: V852E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ANF_receptor 53 385 2.7e-41 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Pfam:Pkinase_Tyr 475 720 6.5e-32 PFAM
Pfam:Pkinase 480 720 7.2e-25 PFAM
CYCc 763 958 2.68e-107 SMART
Meta Mutation Damage Score 0.9521 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous null mice are viable and have an increased resistance to heat-stable enterotoxins. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,559 (GRCm39) E385G probably damaging Het
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Arap3 G A 18: 38,123,580 (GRCm39) P452L possibly damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Asns A G 6: 7,675,506 (GRCm39) S499P probably benign Het
Aspn G T 13: 49,705,374 (GRCm39) V79F probably damaging Het
Astn2 A G 4: 65,563,093 (GRCm39) I844T possibly damaging Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bcl6 G A 16: 23,786,869 (GRCm39) R641W probably damaging Het
Csmd3 T A 15: 47,874,449 (GRCm39) I612F probably damaging Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
H2-T3 G A 17: 36,498,347 (GRCm39) R233C possibly damaging Het
Igfbp4 A G 11: 98,932,377 (GRCm39) probably benign Het
Igkv16-104 T C 6: 68,402,911 (GRCm39) I68T probably damaging Het
Kansl1 T A 11: 104,315,286 (GRCm39) S251C possibly damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Mcpt1 T C 14: 56,257,580 (GRCm39) V242A probably damaging Het
Nek10 C A 14: 14,980,613 (GRCm38) Q990K possibly damaging Het
Nlrp4d A T 7: 10,112,354 (GRCm39) V605E probably benign Het
Or10w1 C T 19: 13,632,611 (GRCm39) P268S possibly damaging Het
Or5an1b T C 19: 12,300,032 (GRCm39) D53G probably damaging Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Osbpl1a A G 18: 13,004,129 (GRCm39) probably benign Het
Otud4 T A 8: 80,399,697 (GRCm39) S803T probably benign Het
Pax9 C T 12: 56,756,529 (GRCm39) T289I probably benign Het
Pcdha5 A C 18: 37,093,868 (GRCm39) I126L possibly damaging Het
Psmd4 G T 3: 94,941,273 (GRCm39) A55E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Sdr42e1 G A 8: 118,389,511 (GRCm39) L377F probably damaging Het
Setdb1 T C 3: 95,234,512 (GRCm39) probably benign Het
Uba3 T C 6: 97,180,514 (GRCm39) E21G probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp113 T C 5: 138,143,219 (GRCm39) N344D probably benign Het
Zfp738 T C 13: 67,818,231 (GRCm39) I587V probably benign Het
Other mutations in Gucy2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Gucy2c APN 6 136,742,612 (GRCm39) missense probably benign 0.01
IGL01081:Gucy2c APN 6 136,679,737 (GRCm39) missense probably damaging 1.00
IGL01285:Gucy2c APN 6 136,686,739 (GRCm39) missense probably damaging 1.00
IGL01395:Gucy2c APN 6 136,675,027 (GRCm39) missense probably damaging 1.00
IGL01408:Gucy2c APN 6 136,675,009 (GRCm39) missense probably benign 0.19
IGL01752:Gucy2c APN 6 136,747,106 (GRCm39) missense probably benign 0.10
IGL01766:Gucy2c APN 6 136,692,971 (GRCm39) missense probably benign 0.43
IGL02245:Gucy2c APN 6 136,706,201 (GRCm39) missense probably benign 0.00
IGL02648:Gucy2c APN 6 136,706,211 (GRCm39) nonsense probably null
IGL02794:Gucy2c APN 6 136,690,146 (GRCm39) missense probably damaging 1.00
IGL03023:Gucy2c APN 6 136,679,794 (GRCm39) splice site probably null
IGL03178:Gucy2c APN 6 136,706,237 (GRCm39) splice site probably benign
IGL03310:Gucy2c APN 6 136,728,044 (GRCm39) missense probably benign
IGL03374:Gucy2c APN 6 136,742,628 (GRCm39) missense probably benign 0.00
IGL03393:Gucy2c APN 6 136,696,665 (GRCm39) missense probably benign 0.04
BB001:Gucy2c UTSW 6 136,740,053 (GRCm39) missense probably benign 0.35
BB011:Gucy2c UTSW 6 136,740,053 (GRCm39) missense probably benign 0.35
R0031:Gucy2c UTSW 6 136,674,997 (GRCm39) missense probably damaging 0.99
R0128:Gucy2c UTSW 6 136,681,247 (GRCm39) missense probably damaging 1.00
R0377:Gucy2c UTSW 6 136,727,915 (GRCm39) critical splice donor site probably null
R0593:Gucy2c UTSW 6 136,705,333 (GRCm39) missense probably damaging 0.99
R0613:Gucy2c UTSW 6 136,737,721 (GRCm39) missense probably damaging 1.00
R0723:Gucy2c UTSW 6 136,704,799 (GRCm39) splice site probably null
R0828:Gucy2c UTSW 6 136,686,746 (GRCm39) missense probably damaging 1.00
R0837:Gucy2c UTSW 6 136,699,418 (GRCm39) missense probably damaging 0.99
R0880:Gucy2c UTSW 6 136,686,830 (GRCm39) critical splice acceptor site probably null
R1350:Gucy2c UTSW 6 136,720,912 (GRCm39) critical splice donor site probably null
R1487:Gucy2c UTSW 6 136,725,824 (GRCm39) missense possibly damaging 0.79
R1680:Gucy2c UTSW 6 136,699,491 (GRCm39) missense probably damaging 1.00
R1751:Gucy2c UTSW 6 136,725,773 (GRCm39) splice site probably benign
R1791:Gucy2c UTSW 6 136,721,025 (GRCm39) missense probably damaging 1.00
R1953:Gucy2c UTSW 6 136,681,291 (GRCm39) missense probably damaging 1.00
R2135:Gucy2c UTSW 6 136,700,726 (GRCm39) missense probably damaging 1.00
R2227:Gucy2c UTSW 6 136,679,758 (GRCm39) missense probably damaging 1.00
R2350:Gucy2c UTSW 6 136,740,072 (GRCm39) missense probably damaging 0.98
R2906:Gucy2c UTSW 6 136,685,385 (GRCm39) missense probably damaging 1.00
R3699:Gucy2c UTSW 6 136,747,109 (GRCm39) missense probably damaging 1.00
R3972:Gucy2c UTSW 6 136,685,364 (GRCm39) missense probably damaging 1.00
R4613:Gucy2c UTSW 6 136,685,319 (GRCm39) missense probably damaging 1.00
R4732:Gucy2c UTSW 6 136,744,150 (GRCm39) missense probably damaging 1.00
R4733:Gucy2c UTSW 6 136,744,150 (GRCm39) missense probably damaging 1.00
R4776:Gucy2c UTSW 6 136,699,512 (GRCm39) missense probably damaging 1.00
R5087:Gucy2c UTSW 6 136,744,033 (GRCm39) missense possibly damaging 0.69
R5284:Gucy2c UTSW 6 136,740,041 (GRCm39) missense possibly damaging 0.56
R5366:Gucy2c UTSW 6 136,697,739 (GRCm39) missense probably damaging 0.99
R5466:Gucy2c UTSW 6 136,758,463 (GRCm39) nonsense probably null
R5911:Gucy2c UTSW 6 136,699,440 (GRCm39) missense probably damaging 1.00
R6160:Gucy2c UTSW 6 136,717,684 (GRCm39) nonsense probably null
R6367:Gucy2c UTSW 6 136,686,776 (GRCm39) missense probably damaging 1.00
R6441:Gucy2c UTSW 6 136,700,759 (GRCm39) missense probably damaging 0.98
R6812:Gucy2c UTSW 6 136,674,993 (GRCm39) missense probably benign
R6865:Gucy2c UTSW 6 136,747,127 (GRCm39) missense probably benign 0.13
R7065:Gucy2c UTSW 6 136,697,764 (GRCm39) missense probably damaging 1.00
R7078:Gucy2c UTSW 6 136,674,937 (GRCm39) missense probably benign 0.19
R7096:Gucy2c UTSW 6 136,705,339 (GRCm39) missense probably benign 0.11
R7138:Gucy2c UTSW 6 136,705,342 (GRCm39) missense probably damaging 1.00
R7343:Gucy2c UTSW 6 136,679,746 (GRCm39) missense probably damaging 1.00
R7538:Gucy2c UTSW 6 136,686,742 (GRCm39) missense probably damaging 1.00
R7587:Gucy2c UTSW 6 136,681,288 (GRCm39) missense probably damaging 1.00
R7666:Gucy2c UTSW 6 136,674,966 (GRCm39) missense probably benign
R7675:Gucy2c UTSW 6 136,693,030 (GRCm39) missense possibly damaging 0.91
R7822:Gucy2c UTSW 6 136,685,404 (GRCm39) missense probably damaging 1.00
R7842:Gucy2c UTSW 6 136,746,814 (GRCm39) splice site probably null
R7924:Gucy2c UTSW 6 136,740,053 (GRCm39) missense probably benign 0.35
R8078:Gucy2c UTSW 6 136,674,919 (GRCm39) missense probably damaging 1.00
R8094:Gucy2c UTSW 6 136,714,446 (GRCm39) missense probably benign 0.33
R8391:Gucy2c UTSW 6 136,681,213 (GRCm39) missense probably damaging 1.00
R8428:Gucy2c UTSW 6 136,704,892 (GRCm39) missense probably damaging 0.96
R9188:Gucy2c UTSW 6 136,700,756 (GRCm39) missense probably benign 0.44
R9189:Gucy2c UTSW 6 136,728,045 (GRCm39) missense probably benign
R9325:Gucy2c UTSW 6 136,743,992 (GRCm39) nonsense probably null
R9361:Gucy2c UTSW 6 136,714,429 (GRCm39) missense possibly damaging 0.80
R9413:Gucy2c UTSW 6 136,700,771 (GRCm39) missense possibly damaging 0.94
Z1088:Gucy2c UTSW 6 136,720,979 (GRCm39) missense probably benign
Z1177:Gucy2c UTSW 6 136,744,194 (GRCm39) missense probably benign 0.01
Z1177:Gucy2c UTSW 6 136,696,685 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAACCATGCCCTGTGTGTTTTG -3'
(R):5'- CATAGGATGGGCCCTGAATGAG -3'

Sequencing Primer
(F):5'- GTGACCCCCTCTTGCTAGGATG -3'
(R):5'- GGTAAACAGGACTGCTCGATCTG -3'
Posted On 2015-01-23